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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
Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Male infertility with normal virilization due to meiosis defect

PSAP
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SOHLH1
(UniProt - OMIM)
SYCP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PSAP
(0.72)
CFTR


Citations in the biomedical literature:


Atypical Gaucher disease due to saposin C deficiency
PSAP
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Atypical Gaucher disease due to saposin C deficiency
Male infertility with normal virilization due to meiosis defect

Synonym(s):
(no synonyms)

Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.