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Infantile onset spinocerebellar ataxia
1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial pancreatic carcinoma
5 OMIM references -
8 associated genes
No signs/symptoms info
Infantile onset spinocerebellar ataxia
Familial pancreatic carcinoma

C10ORF2
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
BRCA2
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MANF
(UniProt - OMIM)
PALB2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
C10ORF2
(0.63)
TP53


Citations in the biomedical literature:


Infantile onset spinocerebellar ataxia
C10ORF2
Familial pancreatic carcinoma
BRCA1 BRCA2 CDKN2A KRAS MANF PALB2
SMAD4 TP53



Infantile onset spinocerebellar ataxia
Familial pancreatic carcinoma

Synonym(s):
- IOSCA
- Ohaha syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Synonym(s):
- Familial pancreatic cancer
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C535523
External references:
5 OMIM references -
1 MeSH reference: C535837
Infantile onset spinocerebellar ataxia

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



Familial pancreatic carcinoma

(no data available)