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Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
1 OMIM reference -
2 associated genes
21 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Alpers syndrome
Autosomal recessive progressive external ophthalmoplegia
Infantile onset spinocerebellar ataxia
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial neurogastrointestinal encephalomyopathy
Recessive mitochondrial ataxia syndrome
Spinocerebellar ataxia with epilepsy
Amyotrophic lateral sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Burkitt lymphoma
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
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- SANDO
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537583
Gene symbol UniProt reference OMIM reference
C10ORF2 Q96RR1606075
POLG P54098174763
No signs/symptoms info available.