ODCs

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

PROTEIN INTERACTIONS: 1

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

Atypical Gaucher disease due to saposin C deficiency

Charcot-Marie-Tooth disease type 4A


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.49)	GDAP1

Citations in the biomedical literature:

Atypical Gaucher disease due to saposin C deficiency		Charcot-Marie-Tooth disease type 4A
	Synonym(s): (no synonyms)		Synonym(s): - CMT4A

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic 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: (no data available)		Epidemiological data: Class of prevalence: unknown 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 - 1 MeSH reference: C535419

No signs/symptoms info available.