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

Charcot-Marie-Tooth disease type 2H

Atypical Gaucher disease due to saposin C deficiency


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

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 2H		Atypical Gaucher disease due to saposin C deficiency
	Synonym(s): - AR-CMT2C - Autosomal recessive axonal CMT4C2 - Axonal Charcot-Marie-Tooth disease with pyramidal involvement		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic 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: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535415		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.