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Endocrinology

Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. With our extensive data repository of rare diseases, we can provide you with a comprehensive medical report, including recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and treatment decisions.

Diabetes and obesity panel

Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome are not detected wtih this panel.

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included
MLPA: 15q11


Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCA1 600046 Tangier disease; HDL deficiency, type 2 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
ACAT1 607809 alpha-methylacetoacetic aciduria AR
ACSF3 614245 Combined malonic and methylmalonic aciduria
AFF4 604417 CHOPS syndrome AD
AGL 610860 glycogen storage disease type III AR
AKT2 164731 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy AD
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
APOA1 107680 Amyloidosis, familial visceral AD
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
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ATP6V0A2 611716 autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome AR
B4GALT1 137060 congenital disorder of glycosylation type 2d AR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS10 610148 Bardet-Biedl syndrome type 10 AR
BBS12 610683 Bardet-Biedl syndrome type 12 AR
BBS2 606151 Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 AR
BBS4 600374 Bardet-Biedl syndrome 4 AR
BBS5 603650 Bardet-Biedl syndrome 5 AR
BBS7 607590 Bardet-Biedl syndrome type 7 AR
BBS9 607968 Bardet-Biedl syndrome type 9 AR
BDNF 113505
BLK 191305 MODY type 11 AD
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CEL 114840 MODY type 8 AD
CEP164 614848 nephronophthisis 15 AR
CEP290 610142 Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 AR
CHD2 602119 childhood-onset epileptic encephalopathy AD
CISD2 611507 Wolfram syndrome 2 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
CP 117700 aceruloplasminemia AR
CREBBP 600140 Rubinstein-Taybi syndrome 1 AD
CUL4B 300304 MENTAL RETARDATION, X-LINKED 15 XLR
CYP27A1 606530 cerebrotendinous xanthomatosis AR
DDOST 602202 Congenital disorder of glycosylation, type Ir AR
DHDDS 608172 retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities 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
DYRK1B 604556 Abdominal obesity-metabolic syndrome 3 AD
EIF2AK3 604032 Wolcott-Rallison syndrome 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
EPM2A 607566 Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) AR
FBP1 611570 Fructose-1,6-bidphosphatase deficiency AR
FOXP3 300292 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked XLR
G6PC 613742 glycogen storage disease type IA AR
GAA 606800 Pompe disease AR
GATA6 601656 Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9 AD
GBE1 607839 storage disease type 4; Polyglucosan body disease, adult form AR
GCK 138079 MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus AD, AR
GHR 600946 familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone AD, AR
GLI3 165240 Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome AD
GLIS3 610192 Diabetes mellitus, neonatal, with congenital hypothyroidism AR
GLUD1 138130 familial hyperinsulinemic hypoglycemia-6 AD
GMPPA 615495 Alacrima, achalasia, and mental retardation syndrome AR
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GNE 603824 Sialuria; Nonaka myopathy AD, AR
GPIHBP1 612757 Hyperlipoproteinemia, type 1D 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
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
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
IER3IP1 609382 Microcephaly, epilepsy, and diabetes syndrome AR
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
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
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
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
KLF11 603301 MODY type 7
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
LDHA 150000 Glycogen storage disease XI AR
LDLR 606945 familial hypercholesterolemia AD
LDLRAP1 605747 Hypercholesterolemia, Autosomal Recessive AR
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LIPA 613497 Wolman disease / cholesteryl ester storage disease AR
LIPE 151750 Lipodystrophy, familial partial, type 6 AR
LPL 609708 familial combined hyperlipidemia; lipoprotein lipase deficiency AD, AR
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
MAGEL2 605283 Schaaf-Yang syndrome AD
MAN1B1 604346 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 AR
MC4R 155541 AD, AR
MGAT2 602616 Congenital disorder of glycosylation, type IIa AR
MKKS 604896 McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 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
MTTP 157147 Abetalipoproteinemia; protection against metabolic syndrome AD, AR
MYO5A 160777 Griscelli syndrome, type 1 AR
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NDN 602117 Prader-Willi syndrome AD
NEUROD1 601724 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 6 AD
NEUROG3 604882 Diarrhea 4, malabsorptive, congenital AR
NGLY1 610661 Congenital disorder of deglycosylation AR
NHLRC1 608072 Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) AR
NPHP1 607100 nephronophthisis 1; Joubert syndrome 4 AR
NPHP3 608002 Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 AR
NR0B2 604630 OBESITY AD, AR
NTRK2 600456 Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58 AD
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
OXCT1 601424 Succinyl CoA:3-oxoacid CoA transferase deficiency 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
PCK1 614168 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency AR
PCNT 605925 microcephalic osteodysplastic primordial dwarfism type 2 AR
PCSK1 162150 Obesity with impaired prohormone processing AR
PCSK9 607786 hypercholesterolemia-3 AD
PDX1 600733 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4 AD, 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
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
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
PMM2 601785 congenital disorder of glycosylation type 1a AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 AR
POMC 176830 OBESITY; Proopiomelanocortin Deficiency AD, AR
PPARG 601487 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 AD, AR
PRKAG2 602743 Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 AD
PROM1 604365 Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 AD, AR
PRPH2 179605 Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 AD, AR
PTF1A 607194 Pancreatic Agenesis 2 AR
PYGL 613741 glycogen storage disease type 6 AR
PYGM 608455 glycogen storage disease type 5 AR
RAB23 606144 Carpenter syndrome AR
RAI1 607642 Smith-Magenis syndrome AD
RBCK1 610924 Polyglucosan body myopathy 1 with or without immunodeficiency AR
RDH5 601617 Retinitis punctata albescens AD, AR
RFT1 611908 congenital disorder of glycosylation type 1n AR
RFX6 612659 Mitchell-Riley syndrome AR
RHO 180380 Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 AD, AR
RLBP1 180090 Retinitis punctata albescens AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RPS6KA3 300075 MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome XLD
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SIM1 603128
SLC16A1 600682 Monocarboxylate transporter 1 deficiency AD, AR
SLC19A2 603941 Thiamine-responsive megaloblastic anemia syndrome 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
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SRD5A3 611715 congenital disorder of glycosylation type 1q; Kahrizi syndrome AR
SSR4 300090 congenital disorder of glycosylation type 1y XLR
STT3A 601134 congenital disorder of glycosylation type 1w AR
STT3B 608605 Congenital disorder of glycosylation, type Ix AR
TMEM165 614726 Congenital disorder of glycosylation, type IIk AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TTC21B 612014 Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 AD, AR
TTC8 608132 retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 AR
TUSC3 601385 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 AR
UCP2 601693
UCP3 602044 OBESITY AD, AR
VPS13B 607817 Cohen syndrome AR
WDPCP 613580 Bardet-Biedl syndrome 15 AR
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

COMMON SYNDROMES AND DISORDERS COVERED

Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity

Pancreatitis panel

Our pancreatitis panel includes genes associated with chronic pancreatitis and for differential diagnosis, it includes genes associated with pancreatic cancer.

No. of genes:29
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCB4 171060 gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3 AD, AR
APC 611731 colorectal cancer; Hepatocellular Carcinoma; Desmoid disease, hereditary; familial adenomatous polyposis; Gastric Cancer AD
APOA5 606368 HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to AD
APOC2 608083 Apolipoprotein C-Ii Deficiency AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
BMPR1A 601299 Juvenile polyposis syndrome, infantile form AD
BRCA1 113705 familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S AD, AR
BRCA2 600185 familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 AD, AR
CASR 601199 Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 AD, AR
CDKN2A 600160 Malignant melanoma 2; Pancreatic cancer/melanoma syndrome AD
CFTR 602421 hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens AD, AR
CPA1 114850
CTRC 601405 hereditary pancreatitis AD
EPCAM 185535 Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 AR
GPIHBP1 612757 Hyperlipoproteinemia, type 1D AR
LPL 609708 familial combined hyperlipidemia; lipoprotein lipase deficiency AD, AR
MEN1 613733 multiple endocrine neoplasia type 1 AD
MLH1 120436 Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 AD, AR
MSH2 609309 Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome AD, AR
MSH6 600678 mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 AD, AR
PALB2 610355 familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 AD
PMS2 600259 mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 AR
PRSS1 276000 hereditary pancreatitis AD
SMAD4 600993 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SPINK1 167790 hereditary pancreatitis AD, AR
STK11 602216 Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic AD
TP53 191170 familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer AD
UBR1 605981 Johanson-Blizzard syndrome AR
VHL 608537 Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 AD, AR

COMMON SYNDROMES AND DISORDERS COVERED

Pancreatic cancer
Pancreatitis

Congenital adrenal hyperplasia panel

Our congenital adrenal hyperplasia (CAH) panel is designed for patients suspected of having CAH. CAH is a group of inherited disorders characterized by improper functioning of the adrenal glands, leading to abnormal production of steroid hormones, such as a cortisol or aldosterone. Our panel includes the analysis of the CYP21A2 gene, which codes for the enzyme 21-hydroxylase. More than 90% of CAH cases are caused by a deficiency of this enzyme.

No. of genes:8
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included
CYPA21A2 analysis

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
CYP11A1 118485 Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete
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
CYP21A2 613815 congenital adrenal hyperplasia type 1 AR
HSD3B2 613890 3-beta-hydroxysteroid dehydrogenase 2 deficiency AR
POR 124015 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency AR
PRKAR1A 188830 Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 AD
STAR 600617 Lipoid adrenal hyperplasia AR

COMMON SYNDROMES AND DISORDERS COVERED

Congenital adrenal hyperplasia

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