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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Progressive familial intrahepatic cholestasis type 3
Low phospholipid associated cholelithiasis

ABCB4 ABCB4


COMMON
GENES
ABCB4



Citations in the biomedical literature:


Progressive familial intrahepatic cholestasis type 3
ABCB4
Low phospholipid associated cholelithiasis



Progressive familial intrahepatic cholestasis type 3
Low phospholipid associated cholelithiasis

Synonym(s):
- PFIC3

Synonym(s):
- ABCB4 gene mutation-associated cholelithiasis
- Cholelithiasis with ABCB4 gene mutation

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535935
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.