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Articles tagged with Autosomal-dominant

  • Pancreatic cancer

    Pancreatic cancer is one of the world’s most lethal malignant neoplasms, with a 5-year survival rate of about 5-7%. Pancreatic cancer now represents the fourth to fifth most frequent cause of cancer mortality in North America, Europe, and Japan. The incidence of pancreatic cancer varies greatly…

  • Breast cancer

    Breast cancer is the most common cancer among women and it is the third leading cause of cancer death. Approximately 1 in 8 women (12%) will develop breast cancer in their lifetime. The risk factors include increasing age, inheritance susceptibility, alcohol intake, breast tissue density, estrogen,…

  • Gastric cancer

    Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma localized in the stomach wall. Gastric cancer is one of the most common cancers in the world, with the highest incidence rates in Japan (80 cases per…

  • Ovarian cancer

    Ovarian cancer is the most lethal of all gynecological cancers, and the annual incidence of ovarian cancer is 12.1 per 100,000 women. Familial ovarian carcinoma has been described in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Inherited in an autosomal dominant fashion, HBOC…

  • Periodic fever syndrome

    Periodic fever syndrome is a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The main inherited periodic fever syndromes are familial Mediterranean fever (FMF) caused by pathogenic variants in MEFV, periodic fever, familial caused by pathogenic…

  • Generalized epilepsy with febrile seizures

    Epilepsy (generalized) with febrile seizures is a complex autosomal dominant disorder characterized by generalized febrile convulsions. Febrile seizures are the most common convulsive event occurring in 2-6% of the population. The lifetime prevalence of febrile seizures is estimated at 3-4% of all…

  • Thrombocytopenia

    Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are…

  • Flecked retina

    Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like…

  • Myofibrillar myopathy

    Myofibrillar myopathies (MFM) are group of neuromuscular diseases characterized by slowly progressive weakness that can involve both proximal and distal muscles. MFM primarily affects skeletal muscles and in some cases cardiac muscle. The signs and symptoms of MFM vary widely among affected…

  • Kallmann syndrome and hypogonadotropic hypogonadism

    Kallmann syndrome is a developmental genetic disorder characterized by delayed or absent puberty and impaired sense of smell and it belongs to isolated gonadotropin-releasing hormone deficiencies. Deficient hypothalamic gonadotropin-releasing hormone (GnRH) secretion underlies the markedly abnormal…

  • Optic atrophy

    Optic atrophy (OPA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing severe visual loss, typically starting during the first decade of life. The disease affects primarily the retinal ganglion neurons and their axons forming the optic nerve, which…

  • Muscular dystrophy

    Muscular dystrophies are inherited neuromuscular diseases characterized by weakness and wasting due to muscle dysfunction. Age of onset, severity, progression and histopathological findings are variable between different subtypes of muscular dystrophies. Muscular dystrophies include a heterogeneous…

  • Childhood absence epilepsy

    Childhood absence epilepsy (CAE) is a form of hereditary pediatric epilepsy, characterized by very frequent absence seizures. This formusually soccurs in children between the ages of 4 and 10 years and in most cases has a good prognosis. CAE accounts for 10-17% of all cases of epilepsy diagnosed in…

  • Arthrogryposis

    Arthrogryposis is a clinical feature of joint contractures and resulting restriction of movements and is characteristic for more than 300 different disorders. Arthrogryposis, e.g. congenital contractures, can be isolated contractures, affecting only a single area of the body, or multiple. The most…

  • Cerebellar ataxia

    Cerebellar ataxias are a highly heterogeneous group of genetic disorders distinguished by abnormal wide-based gait, irregular eye and hand movements, speech difficulties, and morphologically characterized by cerebellar atrophy. Ataxia is a neurological feature of abnormal gait due to the lack of…

  • Early infantile epileptic encephalopathy

    Epileptic encephalopathies represent a group of severe epileptic diseases with an early onset, characterized by severe electroencephalographic abnormalities and resistance to standard anti-epileptic treatment. According to the International League Against Epilepsy (ILAE) epileptic encephalopathies…

  • Microcephaly

    Seckel syndrome is rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. The major feature of Seckel syndrome is associated autosomal recessive primary microcephaly…

  • Mucopolysaccharidoses

    Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…

  • Joubert syndrome

    Joubert syndrome and related disorders (JSRD) are a group of rare autosomal recessive conditions characterized with developmental delay and multiple congenital anomalies. The obligatory hallmark of JRSD is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain…

  • Zellweger syndrome

    Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…

  • Spherocytosis

    Hereditary spherocytosis is a rare inherited disorder characterized by haemolytic anaemia resulting from red blood cell membrane protein anomalies. Hereditary spherocytosis is the most common inherited anemia in individuals of European ancestry, with a prevalence of 1-5 in 10,000 or higher when the…

  • Dravet syndrome

    Dravet syndrome (DS) is a group of early infantile epileptic encephalopathies (EIEE) characterized by early onset, progressive encephalopathy, and severe seizures. DS is characterized by the onset of clonic or tonic-clonic seizures within the first year of life in infants with previously normal…

  • Waardenburg syndrome

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the iris, skin and hair, and with dystopia canthorum. There are four known types of Waardenburg syndrome which are distinguished by their physical…

  • Noonan syndrome

    Noonan syndrome (NS) is a rare autosomal dominant disease characterized by short stature, characteristic facies, congenital heart defect, and developmental delay. NS is one of the most common birth defects, with an estimated incidence of 1 in1,000 to 1 in 2,500 births. Noonan syndrome belongs to the…

  • Pheochromocytoma

    Pheochromocytomas (PCC) and paragangliomas (PGL) are rare catecholamine-secreting tumors that arise from the chromaffin cells of the adrenal medulla and/or from extra-adrenal sympathetic and parasympathetic paraganglia. Approximately 30% of all pheochromocytomas/paragangliomas (PGL/PCC) occur as a…

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP) refers to a group of rare inherited diseases characterized by abnormalities of the photoreceptors of the retina, leading to progressive visual loss. The prevalence of retinitis pigmentosa is 1:3000 to 1:7000 persons, or 14 to 33 per 100,000. Retinitis pigmentosa that does…

  • Spastic paraplegia

    Hereditary Spastic Paraplegia (HSP), also known as SPG (Spastic Paraplegia) is a group of inherited neurological diseases whose main feature is progressive spasticity in the lower limbs as a result of neuronal dysfunction. The condition sometimes also affects the optic nerve and retina or causes…

  • Autoimmune lymphoproliferative syndrome

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disease caused by abnormal lymphocyte homeostasis. ALPS is characterized by non-malignant lymphoproliferation, splenomegaly, and autoimmune cytopenia. ALPS-affected patients have a lifelong increased risk of Hodgkin's and…

  • Tuberous sclerosis

    Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous benign tumors in different body parts, including skin, brain, kidneys, and other organs. The diagnosis of TSC is based on clinical findings, but genetic background of the disease is also very common. Thus,…

  • Alport syndrome

    Alport syndrome (ATS) is a rare disease caused by genetic mutations in one of the type IV collagen genes that encode connective tissue proteins localized within basement membranes of the kidneys, ears, and eyes. Thus, the disease is characterized by renal, cochlear, and ocular involvement.

  • Aicardi-Goutieres syndrome

    Aicardi-Goutieres syndrome is a rare inherited disorder that mainly affects the brain, immune system, and skin. Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy which results in severe intellectual and physical disabilities.

  • Stickler syndrome

    Stickler syndrome is a rare inherited connective tissue disorder characterized by distinctive facial appearance, ocular findings, hearing loss, and mild joint problems. The characteristic flattened facial appearance in Stickler syndrome is a result of underdeveloped bones in the mid-face. Another…

  • Dilated cardiomyopathy

    Cardiomyopathies are disorders with primary abnormalities in the structure and function of the heart. Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and resulting contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal, sarcomere, and…

  • Hypertrophic cardiomyopathy

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both sexes and of various racial and ethnic origins. The incidence of HCM is approximately 1 in 500 in the general population. HCM is most commonly caused by pathogenic variants in one of…

  • Nemaline myopathy

    Nemaline myopathy (NEM, NM) is one of the most common congenital myopathies characterized by hypotonia, weakness, and absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Nemaline myopathies (NEM) include at least six forms…

  • Non-syndromic sensorineural deafness

    Hearing loss, also known as deafness, is the inability of affected person to hear. Hearing loss can be caused by a number of different factors, including genetics, environment, birth complications, trauma, certain medications or toxins, and many others. Hereditary hearing loss (“congenital…

  • Fanconi anemia

    Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…

  • Pancreatitis

    There are a variety of disorders of the pancreas including acute pancreatitis, chronic pancreatitis, hereditary pancreatitis, and pancreatic cancer. Signs and symptoms of pancreatitis may vary, depending on the disease. Hereditary pancreatic diseases are inflamatory diseases of pancreas, most often…

  • Arrhythmia, hereditary

    Sudden unexplained death is a major source of mortality in developed countries; the major causes (in the absence of the structural heart disease) are primary cardiac arrhythmia syndromes or electrical cardiac diseases ('channelopathies').

  • Arrhythmogenic right ventricular cardiomyopathy

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is a heritable heart-muscle disorder which causes progressive replacement of right ventricular myocardium by fibrofatty tissue. ARVD is an important cause of sudden cardiac death (SCD) in young adults, accounting for 22% of cases…

  • Amyotrophic lateral sclerosis (ALS)

    Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterized by progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease. Since the discovery of mutations in gene encoding…

  • Long QT syndrome

    Long QT syndrome (LQTS) is a rare cardiac disease associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. LQTS is a cardiac electrophysiologic disorder, characterized by…

  • Cataract

    Cataracts are a clouding of the lens in the eye, defined as opacification of the normally transparent crystalline lens. It is very common in older people and mostly related to aging. Cataracts can occur in one or both eyes affecting vision, i.e. clouding in the lens results in blurred vision.…

  • Catecholaminergic polymorphic ventricular tachycardia

    Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is a pathological disorder triggered by intense physical exercise or acute emotional stress. These conditions could initiate abnormal heartbeat (ventricular tachycardia) which then leads to dizziness, syncope, and in worst cases sudden…

  • Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

    Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are…


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