Urea Cycle Disorder
Disease synonyms
Urea cycle disorders, UCD
Inheritance pattern
Autosomal recessive, X-linked for OTC
Clinical features
The urea cycle is a cycle of biochemical reactions which produce urea ((NH2)2CO) from ammonia (NH3), e.g. converts highly toxic ammonia to urea for excretion.
Urea cycle disorders (UCD) result from inherited deficiencies in the six enzymes of the urea cycle pathway (CPS1, OTC, ASS1, ASL, ARG, and NAGS) 1. These enzymes can be classified as follows:
Five catalytic enzymes:
- Carbamoylphosphate synthetase I (CPS1)
- Ornithine transcarbamylase (OTC)
- Argininosuccinic acid synthetase (ASS1)
- Argininosuccinic acid lyase (ASL)
- Arginase (ARG)
A cofactor-producing enzyme:
- N-acetyl glutamate synthetase (NAGS)
Urea cycle disorders are a group of genetic disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle (Table). The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. In urea cycle disorders, where the crucial enzymes of the urea cycle are deficient or absent, the nitrogen accumulates in the form of highly toxic ammonia resulting in the state of hyperammonemia. Increased levels of blood ammonia can cause irreversible brain damage, coma, and death.
Figure: The urea cycle is a complex biochemical reaction that produces urea from the highly toxic ammonia and is performed in the five following consecutive biochemical steps:
Step 1: HCO3 + NH4 + 2ATP = Carbamyl phosphate + 2ADP + Pi
Step 2: Carbamyl phosphate + Ornithine = citruline + Pi
Step 3: Citruline + Aspartate + ATP = Argininosuccinate + AMP + PPi
Step 4: Argininosuccinate = Arginine + Fumarate
Step 5: Arginin + H2O = Ornithine + Urea
Severe deficiency or absence of activity of any of the first four enzymes (CPS1, OTC, ASS, ASL) in the urea cycle or the cofactor producer (NAGS) results in the accumulation of ammonia and other precursor metabolites during the first few days of life 1. Infants with a severe urea cycle disorder, normal at birth, rapidly develop cerebral edema and the related signs of lethargy, anorexia, respiratory distress, seizures, neurologic abnormalities, and finally coma. Some forms of urea cycle disorders have a milder phenotype, due to the milder deficiencies of related enzymes. In arginase deficiency (ARG), ammonia accumulation may be triggered by illness or stress at any time of life.
Children with severe urea cycle disorders typically show symptoms after the first hours of life. Major clinical features in affected infants are vomiting, problems with feeding, and increasing lethargy. Very soon after birth affected infants show signs of seizures, hypotonia, and respiratory distress. Later symptoms may include frequent episodes of vomiting, especially following high-protein meals, lethargy and delirium, and finally, if the condition is undiagnosed and untreated, hyperammonemic coma or death may occur.
Arginase deficiency (hyperargininemia, ARG deficiency) is not typically characterized by rapid-onset hyperammonemia, however, some individuals present earlier with more severe symptoms. Affected individuals develop progressive spasticity and can also develop tremor, ataxia, and choreoathetosis. Growth is also affected. The ARG gene is an oncogene, related to ABL (protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase) in DNA sequences from human plasma. The ARG/ABL1 genes are implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Among the 44 disease-causing mutations identified in the ARG gene so far, the majority are missense mutations such as: homozygous c.612C>T (R21X); c.703G>A (G235R), small deletions (c.262del4bp) and insertions (IVS4-2A>G; c.647_648ins32 exon 6), as well as many others.
Argininosuccinate lyase deficiency (ASL deficiency) can also present with rapid-onset hyperammonemia in the neonatal period indistinguishable from other urea cycle disorders. The major presenting symptoms are vomiting, lethargy, hypothermia, and poor feeding. The estimated incidence of ASL deficiency is 1:70,000 newborns 5. ASL enzyme cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle (Figure). Among more than 140 disease-causing mutations, the majority are missense, and some large deletions and insertions have also been reported. Some of the mutations include: the IVS5+1G-A splice site mutation, missense mutations R385C, V178M, R379C, Q286R and others. Variant c.1153C>T is associated with residual ASL enzyme activity and accounts for approximately 60% of pathogenic variants in the Finnish population 9. Two founder variants are present in people of Arab ancestry from the Kingdom of Saudi Arabia: the c.1060C>T change that results in a premature stop codon is responsible for approximately 50% of the ASL pathogenic variants in this population 10 and the c.346C>T variant.
Citrullinemia type I (ASS1 deficiency) is characterized by severe hyperammonemia, progressive lethargy, poor feeding, vomiting and signs of increased intracranial pressure, with variable time of onset, from neonatal to later stages of life. Citrullinemia type I has been estimated to occur in 1:57,000 births 5. Citrullinemia type I results from a deficiency of the enzyme argininosuccinate synthase, the third step in the urea cycle (Figure), in which citrulline is condensed with aspartate to form arginosuccinic acid.
Affected individuals are able to incorporate some waste nitrogen into urea cycle intermediates, which makes treatment slightly easier than in the other UCDs. The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic urea cycle enzyme mainly expressed in hepatocytes, but also in most other body tissues. More than 110 mutations are distributed throughout the ASS1 gene, and it is usually difficult to predict the phenotype based on genotype. Seven variants are associated with severe disease; three of them (p.Arg304Trp, c.421-2A>G, and p.Gly390Arg) account for the majority of citrullinemia type I 6. In the homozygous state p.Gly362Val is associated with mild or no clinical symptoms, as is compound heterozygosity for c.[323G>T];[970+5G>A] 7. Fifty percent of individuals with non-classic presentations were found to be homozygous for one of the following three missense variants: p.Trp179Arg, p.Val263Met, or p.Gly362Val 8.
Carbamoylphosphate synthetase I deficiency (CPS1 deficiency) is the most severe of the urea cycle disorders, with an estimated incidence of 1 in 1,300,000 2, 3, 1. Individuals with complete CPS1 deficiency rapidly develop life-threatening hyperammonemia in the newborn period. Carbamoyl phosphate synthetase I is the rate-limiting enzyme that catalyzes the first committed step of the hepatic urea cycle by synthesizing carbamoyl phosphate from ammonia, bicarbonate, and 2 molecules of ATP. CPS1 is expressed in the liver and in epithelial cells of the intestinal mucosa. More than 250 mutations causing urea cycle disorders have been reported in the CPT1 gene. The majority of these mutations are missense, splicing, small deletions and insertions, but a few large deletions/duplications have also been reported 4.
Ornithine transcarbamylase deficiency (OTC deficiency) is a severe neonatal-onset urea cycle disorder that affects mostly males. Affected boys are normal at birth but soon after birth they develop acute neonatal encephalopathy with hyperventilation and hypothermia. OTC deficiency is thought to be the most common urea cycle defect with the estimated prevalence of OTC deficiency was one in 14,000 live births 11. Ornithine carbamoyltransferase is a nuclear-encoded mitochondrial matrix enzyme that catalyzes the second step of the urea cycle (Figure). More than 450 mutations were reported for the OTC gene, and more than half of these are missense mutations (55%) 12. About 13% of reported pathogenic variants affect splicing of OTC, and an additional 12% of reported variants are structural rearrangements 12, 13.
NAGS deficiency is characterized by symptoms which mimic those of CPS1 deficiency, as CPS1 is rendered inactive in the absence of NAGS (Figure). N-acetylglutamate synthase is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG), an essential allosteric activator of carbamoyl phosphate synthase I, the first and rate-limiting enzyme in the urea cycle 1. Patients with NAGS deficiency develop hyperammonemia because CPS1 is inactive without NAGS. Mutations in the NAGS gene are distributed throughout the reading frame of the gene, and so far more than 25 missense, splicing mutations and small deletions have been reported as disease-causing mutations in the NAGS gene.
Early diagnosis of urea cycle disorders is essential for successful patient outcome. Treatment should include dialysis and hemofiltration for the acute severe hyperammonemia, intravenous administration of arginine hydrochloride and nitrogen scavenger drugs in order to allow alternative pathway excretion of excess nitrogen. Restriction of protein intake can reduce the amount of nitrogen. In addition, clinical trials are in progress, with the aim to test the new potential therapeutics for the treatment of urea cycle disorders (trials with developing drugs such as HPN-100; BUPHENYL®; NaPBA; Sodium [1,2-13C]-Acetate and many others 1).
CENTOGENE offers sequencing and deletion/duplication analysis for the Urea cycle disorder panel (genes: ARG1, ASL, ASS1, CPS1, NAGS, OTC).
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCA1 | 600046 | Tangier disease; HDL deficiency, type 2 | AR |
ABCB4 | 171060 | gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR |
ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ACAD8 | 604773 | AR | |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGL | 610860 | glycogen storage disease type III | AR |
AGPAT2 | 603100 | Lipodystrophy, congenital generalized, type 1 | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AGXT | 604285 | primary hyperoxaluria type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
AKT2 | 164731 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy | AD |
ALAD | 125270 | Acute hepatic porphyria | AR |
ALAS2 | 301300 | X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked | XL, XLR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
AMN | 605799 | AR | |
AMT | 238310 | glycine encephalopathy | AR |
ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
APOA5 | 606368 | HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to | AD |
APOB | 107730 | Hypercholesterolemia, Type B; Hypobetalipoproteinemia | AD, AR |
APOC2 | 608083 | Apolipoprotein C-Ii Deficiency | AR |
APOE | 107741 | Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy | AD, AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASL | 608310 | argininosuccinic aciduria | AR |
ASPA | 608034 | Canavan disease | AR |
ASS1 | 603470 | citrullinemia | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BLK | 191305 | MODY type 11 | AD |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer | AD |
CASP8 | 601763 | familial breast-ovarian cancer type 2; Hepatocellular Carcinoma; Lung Cancer | AD, AR |
CAV1 | 601047 | AD, AR | |
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CBLIF | 609342 | Intrinsic factor deficiency | AR |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CD320 | 606475 | Methylmalonic aciduria due to transcobalamin receptor defect | |
CEL | 114840 | MODY type 8 | AD |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CIDEC | 612120 | Lipodystrophy, familial partial, type 5 | AR |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPB | 616254 | 3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPOX | 612732 | Coproporphyria, hereditary | AD, AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTH | 607657 | Cystathioninuria | AR |
CTLA4 | 123890 | systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome, type V | AD |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CUBN | 602997 | megaloblastic anemia 1 | AR |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP17A1 | 609300 | congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency | AR |
CYP19A1 | 107910 | Aromatase excess syndrome; Aromatase deficiency | AD |
CYP21A2 | 613815 | congenital adrenal hyperplasia type 1 | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DIABLO | 605219 | Deafness, autosomal dominant 64 | AD |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
ENO3 | 131370 | Glycogen storage disease XIII | AR |
ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
EPB42 | 177070 | Spherocytosis, type 5 | |
EPHX2 | 132811 | familial hypercholesterolemia | AD |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FADD | 602457 | recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FAS | 134637 | Autoimmune lymphoproliferative syndrome | AD |
FASLG | 134638 | Lung Cancer; Autoimmune lymphoproliferative syndrome | AD |
FASTKD2 | 612322 | AR | |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBP1 | 611570 | Fructose-1,6-bidphosphatase deficiency | AR |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FECH | 612386 | Protoporphyria, erythropoietic, autosomal recessive | AR |
FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
FOXRED1 | 613622 | AR | |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUCA1 | 612280 | fucosidosis | AR |
G6PC | 613742 | glycogen storage disease type IA | AR |
G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
GAA | 606800 | Pompe disease | AR |
GALC | 606890 | Krabbe disease | AR |
GALE | 606953 | Galactose epimerase deficiency | AR |
GALK1 | 604313 | galactokinase deficiency | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GATA6 | 601656 | Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9 | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
GCSH | 238330 | glycine encephalopathy | AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GHR | 600946 | familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone | AD, AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
GLRX5 | 609588 | Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNMT | 606628 | AR | |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
GYG1 | 603942 | Glycogen storage disease XV; Polyglucosan body myopathy 2 | AR |
GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4 | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HCFC1 | 300019 | mental retardation 3 | XLR |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
HGD | 607474 | Alkaptonuria | AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HJV | 608374 | hemochromatosis type 2A | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMBS | 609806 | acute intermittent porphyria | AD |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNF1A | 142410 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3 | AD, AR |
HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
HNF4A | 600281 | MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
HPD | 609695 | Tyrosinemia, type III | AD, AR |
HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
INS | 176730 | Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10 | AD, AR |
INSR | 147670 | Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans | AD, AR |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ITK | 186973 | Lymphoproliferative syndrome 1 | AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNJ11 | 600937 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13 | AD, AR |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KLF11 | 603301 | MODY type 7 | |
KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LDHA | 150000 | Glycogen storage disease XI | AR |
LDLR | 606945 | familial hypercholesterolemia | AD |
LDLRAP1 | 605747 | Hypercholesterolemia, Autosomal Recessive | AR |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPE | 151750 | Lipodystrophy, familial partial, type 6 | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
LPL | 609708 | familial combined hyperlipidemia; lipoprotein lipase deficiency | AD, AR |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MARS2 | 609728 | AR | |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MTRR | 602568 | Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NEU1 | 608272 | neuraminidase deficiency | AR |
NEUROD1 | 601724 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 6 | AD |
NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
PAH | 612349 | phenylketonuria | AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PAX4 | 167413 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Maturity-onset diabetes of the young, type IX | AD, AR |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCK1 | 614168 | Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency | AR |
PCSK9 | 607786 | hypercholesterolemia-3 | AD |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4 | AD, AR |
PEPD | 613230 | Prolidase deficiency | AR |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PFKM | 610681 | Glycogen storage disease type VII | AR |
PGAM2 | 612931 | Glycogen storage disease X | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHKA1 | 311870 | Muscle glycogenosis | XLR |
PHKA2 | 300798 | glycogen storage disease type IX | XLR |
PHKB | 172490 | Glycogen storage disease IXb; Phosphorylase kinase deficiency of liver and muscle | AR |
PHKG2 | 172471 | Glycogen storage disease IXc | AR |
PHYH | 602026 | Refsum disease | AR |
PIK3R1 | 171833 | SHORT syndrome; Immunodeficiency 36 | AD, AR |
PKLR | 609712 | pyruvate kinase deficiency | AD, AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLIN1 | 170290 | Lipodystrophy, familial partial, type 4 | AD |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
POR | 124015 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency | AR |
PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
PPOX | 600923 | variegate porphyria | AD |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRF1 | 170280 | familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin; Aplastic Anemia | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
PRKCD | 176977 | Autoimmune lymphoproliferative syndrome, type III | AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PTF1A | 607194 | Pancreatic Agenesis 2 | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
PYGL | 613741 | glycogen storage disease type 6 | AR |
PYGM | 608455 | glycogen storage disease type 5 | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RFX6 | 612659 | Mitchell-Riley syndrome | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RPIA | 180430 | AR | |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC2A2 | 138160 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC3A1 | 104614 | cystinuria | AD, AR |
SLC40A1 | 604653 | Hemochromatosis, type 4 | AD |
SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC6A9 | 601019 | Glycine encephalopathy with normal serum glycine | AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC7A9 | 604144 | cystinuria | AD, AR |
SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SPART | 607111 | spastic paraplegia 20 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPTA1 | 182860 | Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3 | AD, AR |
SPTB | 182870 | Spherocytosis, type 2; Elliptocytosis 3 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STX11 | 605014 | Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
STXBP2 | 601717 | Hemophagocytic lymphohistiocytosis, familial, 5 | |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUGCT | 609187 | AR | |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TAT | 613018 | Tyrosinemia type II | AR |
TAZ | 300394 | Barth syndrome | XLR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TCN2 | 613441 | Transcobalamin II deficiency | AR |
TFR2 | 604720 | hemochromatosis type 3 | AR |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UCP2 | 601693 | ||
UGT1A1 | 191740 | Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II | AR |
UMPS | 613891 | Orotic aciduria | AR |
UNC13D | 608897 | familial hemophagocytic lymphohistiocytosis 3 | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
UROD | 613521 | hepatoerythropoietic porphyria | AD, AR |
UROS | 606938 | Porphyria, congenital erythropoietic | AR |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
ZFP57 | 612192 | Diabetes mellitus, transient neonatal, 1 | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARV1 | 611647 | early infantile epileptic encephalopathy type 38 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASL | 608310 | argininosuccinic aciduria | AR |
ASPA | 608034 | Canavan disease | AR |
ASS1 | 603470 | citrullinemia | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A2 | 182340 | familial hemiplegic migraine type 2 | AD |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CAV1 | 601047 | AD, AR | |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHRNA2 | 118502 | Epilepsy, Nocturnal Frontal Lobe, 4 | AD |
CHRNA4 | 118504 | Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 | AD, AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFHC1 | 608815 | Epilepsy, myoclonic juvenile | AD |
EGF | 131530 | Hypomagnesemia 4, renal | |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF12 | 601513 | AD | |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXRED1 | 613622 | AR | |
FRRS1L | 604574 | Epileptic encephalopathy, early infantile, 37 | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUCA1 | 612280 | fucosidosis | AR |
FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
GAA | 606800 | Pompe disease | AR |
GABRA1 | 137160 | Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 | AD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GABRD | 137163 | Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 | AD |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCSH | 238330 | glycine encephalopathy | AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | early infantile epileptic encephalopathy, 40 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ITPA | 147520 | Epileptic encephalopathy, early infantile, 35 | AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Epileptic encephalopathy, early infantile, 32 | AD |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MARS2 | 609728 | AR | |
MBD5 | 611472 | mental retardation-1 | AD |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NECAP1 | 611623 | early infantile epileptic encephalopathy 21 | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEU1 | 608272 | neuraminidase deficiency | AR |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAH | 612349 | phenylketonuria | AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHYH | 602026 | Refsum disease | AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBFOX1 | 605104 | ||
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
RPIA | 180430 | AR | |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 | AD |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SEC23B | 610512 | congenital dyserythropoietic anemia 2; Cowden syndrome 7 | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SGCE | 604149 | myoclonus-dystonia | AD |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SIK1 | 605705 | Epileptic encephalopathy, early infantile, 30 | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC13A5 | 608305 | early infantile epileptic encephalopathy 25 | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC1A2 | 600300 | early infantile epileptic encephalopathy type 41 | AD |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SPART | 607111 | spastic paraplegia 20 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STX1B | 601485 | generalized epilepsy with febrile seizures plus-9 | AD |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SZT2 | 615463 | Epileptic encephalopathy, early infantile, 18 | AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBE3A | 601623 | Angelman syndrome | AD |
UMPS | 613891 | Orotic aciduria | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Differential diagnosis
The differential diagnosis of urea cycle-related disorders – depending on the major symptoms in the initial case – includes the following diseases:
Inborn errors of metabolism:
- Organic acidemias (propionic acidemia and methylmalonic acidemia)
- Tyrosinemia type 1
- Galactosemia
- Mitochondrial disorders
- Fatty acid oxidation disorders
Diseases of the liver and biliary tract:
- Herpes simplex virus infection
- Vascular bypass of the liver
- Biliary atresia
- Acute liver failure
Effect of medications:
- Valproic acid
- Cyclophosphamide
- 5-pentanoic acid
Testing strategy
CENTOGENE offers an advanced, fast and cost-effective strategy to test large NGS panels and diagnose complex phenotypes based on PCR-free whole genome sequencing and NGS technology. This approach offers an unparalleled advantage by reducing amplification/capture biases and providing sequencing of the entire gene with more uniform coverage.
To confirm/establish the diagnosis, CENTOGENE offers the following testing strategy for urea cycle disorders using NGS Panel Genomic targeted towards this specific phenotype:
Step 1: Whole genome sequencing from a single filter card. The sequencing covers the entire gene (coding region, exon/intron boundaries, intronic and promoter) for all the genes included in the Urea cycle disorders panel. Copy Number Variants analysis derived from NGS data is also included.
Step 2: If no mutation is identified after analysis of the Urea cycle disorders panel, we further recommend continuing the bioinformatics analysis of the data using whole genome sequencing to cover those genes which are either implicated in an overlapping phenotype or could be involved in a similar pathway but are not strongly clinically implicated based on the current information in literature.
Referral reasons
The following individuals are candidates for urea cycle disorders testing:
- Individuals with a family history of urea cycle disorders and presentation of the most common symptoms
- Individuals without a positive family history, but with symptoms resembling urea cycle disorders
- Individuals with a negative but suspected family history of urea cycle disorders, in order to perform proper genetic counseling.
Test utility
Sequencing, deletion/duplication of the panel genes should be performed in all individuals suspected of having urea cycle disorders and suspected phenotypes. In parallel, other genes reported to be related with this clinical phenotype should also be analyzed for the presence of mutations, due to the overlap in many clinical features caused by those particular genes.
Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the urea cycle disorders and related disorders identify at-risk family members, provide disease risks as well as appropriate referral for patient support and/or resources.