Mitochondrial Dna Depletion Syndrome 7 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases
50OMIM, 11Disease Ontology, 13DISEASES, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 46NIH Rare Diseases, 66UMLS, 23GeneTests, 52Orphanet, 24Genetics Home Reference, 22GeneReviews, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:
Orphanet epidemiological data:52
infantile onset spinocerebellar ataxia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,early childhood,infantile,late childhood,young Adult
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases
OMIM:50 Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized... (271245) more...
MalaCards based summary: Mitochondrial Dna Depletion Syndrome 7, also known as infantile onset spinocerebellar ataxia, is related to spinocerebellar ataxia 8 and spinocerebellar ataxia 31, and has symptoms including hearing impairment, ophthalmoparesis and optic atrophy. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (Chromosome 10 Open Reading Frame 2). Affiliated tissues include liver, brain and spinal cord.
UniProtKB/Swiss-Prot:68 Mitochondrial DNA depletion syndrome 7: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.
Genetics Home Reference:24 Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.
GeneReviews summary for NBK3795
Symptoms by clinical synopsis from OMIM:271245
Clinical features from OMIM:271245
Symptoms:52 (show all 7)
HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:(show all 30)
UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:muscle spasticity, tremor, pyramidal sign, ataxia, athetosis, ophthalmoplegia, muscle weakness, clumsiness
MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:34
Liver, Brain, Spinal cord, Cerebellum, Eye
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:68
Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:5
Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 7.
Cellular components related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:
Molecular functions related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet