Mitochondrial Dna Depletion Syndrome 7 malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases categories
Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,early childhood,infantile,late childhood,young Adult
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 ohaha syndrome, is related to mitochondrial recessive ataxia syndrome and spinocerebellar ataxia, 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), and among its related pathways is Proteolysis_Putative ubiquitin pathway. Affiliated tissues include liver, brain and spinal cord.
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 sca-io
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 32)
MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:33
Liver, Brain, Spinal cord, Cerebellum, Eye
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.
Cellular components related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:
Biological processes 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:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet