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Infantile onset spinocerebellar ataxia
1 OMIM reference -
1 associated gene
14 connected diseases
7 signs/symptoms
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
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):
- IOSCA
- Ohaha syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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:
1 OMIM reference -
1 MeSH reference: C535523
Gene symbol UniProt reference OMIM reference
C10ORF2 Q96RR1606075
Very frequent
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Functional anomalies of the nervous system
- Hearing loss / hypoacusia / deafness
- Movement disorder
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla