4123
(4.0%)

HSD10 mitochondrial disease

Sensorineural hearing impairment

X-linked dominant inheritance

HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.

4123
(4.0%)

biotin-responsive basal ganglia disease

Ptosis

Autosomal recessive inheritance

4123
(4.0%)

vitamin B12-responsive methylmalonic acidemia type cblA

Seizure

Autosomal recessive inheritance

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 8

Optic disc pallor

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.

4123
(4.0%)

multiple system atrophy

Urinary urgency

Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.

4123
(4.0%)

neuronal ceroid lipofuscinosis 3

Glaucoma

Autosomal recessive inheritance

A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

4123
(4.0%)

EAST syndrome

Polyuria

Autosomal recessive inheritance

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

4123
(4.0%)

renal hypomagnesemia 3

Recurrent urinary tract infections

Autosomal recessive inheritance

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

4123
(4.0%)

infantile onset spinocerebellar ataxia

Hearing impairment

Autosomal recessive inheritance

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

4123
(4.0%)

Bartter disease type 4a

Renal insufficiency

Autosomal recessive inheritance Heterogeneous

Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.

4123
(4.0%)

mitochondrial DNA depletion syndrome 1

Sensorineural hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

coenzyme Q10 deficiency, primary, 1

Glomerular sclerosis

Autosomal recessive inheritance

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.

4123
(4.0%)

succinic semialdehyde dehydrogenase deficiency

Abnormality of eye movement

Autosomal recessive inheritance

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

4123
(4.0%)

ornithine translocase deficiency

Chorioretinal atrophy

Autosomal recessive inheritance

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.

4123
(4.0%)

Niemann-Pick disease, type C1

Vertical supranuclear gaze palsy

Autosomal recessive inheritance Heterogeneous

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

4123
(4.0%)

X-linked spinocerebellar ataxia type 3

Sensorineural hearing impairment

X-linked recessive inheritance

X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.

4123
(4.0%)

metachromatic leukodystrophy, juvenile form

Urinary incontinence

Autosomal recessive inheritance

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 2

Hearing impairment

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.

4123
(4.0%)

immunodeficiency due to CD25 deficiency

Diabetes mellitus

Autosomal recessive inheritance

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 3

Nephrotic syndrome

Autosomal recessive inheritance

A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.

4123
(4.0%)

hereditary fructose intolerance

Proximal tubulopathy

Autosomal recessive inheritance

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

4123
(4.0%)

Niemann-Pick disease, type C2

Vertical supranuclear gaze palsy

Autosomal recessive inheritance Heterogeneous

Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.

4123
(4.0%)

Leigh syndrome

Sensorineural hearing impairment

Autosomal recessive inheritance Heterogeneous Mitochondrial inheritance

Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

4123
(4.0%)

familial amyloid neuropathy

Urinary incontinence

Autosomal dominant inheritance

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

4123
(4.0%)

spinocerebellar ataxia type 2

Rod-cone dystrophy

Autosomal dominant inheritance Autosomal recessive inheritance Genetic anticipation

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

4123
(4.0%)

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Visual impairment

Autosomal recessive inheritance

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

4123
(4.0%)

spinocerebellar ataxia type 17

Urinary incontinence

Autosomal dominant inheritance

Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

4123
(4.0%)

mitochondrial DNA depletion syndrome 4a

Visual loss

Autosomal recessive inheritance

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 2A

Nephrotic syndrome

Autosomal dominant inheritance

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.

4123
(4.0%)

cytochrome-c oxidase deficiency disease

Proteinuria

Autosomal recessive inheritance Heterogeneous Mitochondrial inheritance

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis type 1

Irritability

Autosomal recessive inheritance

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.

4123
(4.0%)

mitochondrial DNA depletion syndrome 9

Hearing impairment

Autosomal recessive inheritance

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

4123
(4.0%)

spinocerebellar ataxia type 1

Slow saccadic eye movements

Autosomal dominant inheritance Genetic anticipation with paternal anticipation bias

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 1

Hearing impairment

Autosomal recessive inheritance Mitochondrial inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.

4123
(4.0%)

congenital alveolar capillary dysplasia

Hydroureter

Autosomal dominant inheritance

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 2

Irritability

Autosomal recessive inheritance

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.