ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Congenital myopathy with excess of thin filaments

Spectrin-associated autosomal recessive cerebellar ataxia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTA1	(0.52)	SPTBN2

Citations in the biomedical literature:

Congenital myopathy with excess of thin filaments		Spectrin-associated autosomal recessive cerebellar ataxia
	Synonym(s): - Actin myopathy		Synonym(s): - Autosomal recessive cerebellar ataxia - cognitive defect - Autosomal recessive spinocerebellar ataxia type 14 - SCAR14 - SPARCA - SPARCA1 - Spectrin-associated autosomal recessive cerebellar ataxia type 1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.