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

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Spinocerebellar ataxia type 12


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.56)	PPP2R2B

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Spinocerebellar ataxia type 12
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - SCA12

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.