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Infantile onset spinocerebellar ataxia

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

Infantile onset spinocerebellar ataxia

Li-Fraumeni syndrome

C10ORF2	(UniProt - OMIM)		CHEK2	(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		Li-Fraumeni syndrome
	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 endocrine disease - Rare genetic disease - Rare neurologic 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: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535523		External references: 3 OMIM references - 1 MeSH reference: D016864

Infantile onset spinocerebellar ataxia		Li-Fraumeni syndrome
	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		Very frequent - Acute leukemia - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Breast neoplasm / tumor / carcinoma / cancer - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Colon neoplasm / tumor / carcinoma / cancer - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Lymphoma - Neoplasms / tumors - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Sarcoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Occasional - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Melanoma - Oropharyngeal neoplasm / tumor / carcinoma / cancer