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Atypical Gaucher disease due to saposin C deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
2 OMIM references -
1 associated gene
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

PSAP
(UniProt - OMIM)
 GDAP1
(UniProt - OMIM)

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
PSAP
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
GDAP1



Atypical Gaucher disease due to saposin C deficiency
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Synonym(s):
(no synonyms)

Synonym(s):
- ARCMT2K
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
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:
2 OMIM references -
No MeSH references
No signs/symptoms info available.