Mitochondrial Dna Depletion Syndrome 7 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:
Orphanet epidemiological data:51
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:49 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 mitochondrial recessive ataxia syndrome and spinocerebellar ataxia 8, and has symptoms including abnormality of movement, incoordination and reduced tendon reflexes. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (Chromosome 10 Open Reading Frame 2). Affiliated tissues include brain, liver and cerebellum.
Genetics Home Reference:23 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.
UniProtKB/Swiss-Prot:67 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.
GeneReviews summary for NBK3795
Symptoms by clinical synopsis from OMIM:271245
Clinical features from OMIM:271245
Symptoms:51 (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:clumsiness, muscle weakness, ophthalmoplegia, athetosis, ataxia, pyramidal sign, tremor, muscle spasticity
MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:33
Brain, Liver, Cerebellum, Spinal cord, Eye, Lung
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:67
Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:5
Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 7.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet