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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Infantile onset spinocerebellar ataxia
Adrenocortical carcinoma

C10ORF2 TP53


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
Adrenocortical carcinoma
TP53



Infantile onset spinocerebellar ataxia
Adrenocortical carcinoma

Synonym(s):
- IOSCA
- Ohaha syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare infertility
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535523
External references:
1 OMIM reference -
1 MeSH reference: D018268

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



Adrenocortical carcinoma

(no data available)