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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Amyotrophic lateral sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Heritable pulmonary arterial hypertension
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- mtDNA depletion syndrome, hepatocerebrorenal form
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
C10ORF2 Q96RR1606075
No signs/symptoms info available.