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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
Hereditary chronic pancreatitis
1 OMIM reference -
5 associated genes
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Hereditary chronic pancreatitis

PSAP
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
CTRC
(UniProt - OMIM)
PRSS1
(UniProt - OMIM)
PRSS2
(UniProt - OMIM)
SPINK1
(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
Hereditary chronic pancreatitis
CFTR CTRC PRSS1 PRSS2 SPINK1



Atypical Gaucher disease due to saposin C deficiency
Hereditary chronic pancreatitis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.