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Atypical Gaucher disease due to saposin C deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Metachromatic leukodystrophy, adult form
2 associated genes
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, adult form

PSAP
(UniProt - OMIM)
 ARSA
(UniProt - OMIM)
PSAP
(UniProt - OMIM)

COMMON
GENES 		PSAP


Citations in the biomedical literature:


Atypical Gaucher disease due to saposin C deficiency
PSAP
Metachromatic leukodystrophy, adult form
ARSA



Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, adult form

Synonym(s):
(no synonyms)

Synonym(s):
- Arylsulfatase A deficiency, adult form
- MLD, adult form
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.