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Progressive familial intrahepatic cholestasis type 3
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Intrahepatic cholestasis of pregnancy
Low phospholipid associated cholelithiasis
Kostmann syndrome
Synonym(s):
- PFIC3
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535935
Gene symbol UniProt reference OMIM reference
ABCB4 P21439171060
No signs/symptoms info available.