GenTIGSA Gene Database on Rare Genetic Disorders
Progressive Familial Intrahepatic Cholestasis Type 2  
Disease Aliases (22)

Abcb11 progressive familial intrahepatic cholestasis

Bric type 2

Bric2

Bsep deficiency

Benign recurrent intrahepatic cholestasis 2

Benign recurrent intrahepatic cholestasis 2 (bric2)

Cholestasis, benign recurrent intrahepatic, 2

Cholestasis, benign recurrent intrahepatic 2

Mild abcb11 deficiency

Pfic2

Pfic2 progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis 2

Progressive familial intrahepatic cholestasis type 2

Recurrent familial intrahepatic cholestasis 2

Severe abcb11 deficiency

Benign recurrent intrahepatic cholestasis type 2

Cholestasis, benign recurrent intrahepatic, 2; bric2

Cholestasis, benign recurrent intrahepatic, type 2

Cholestasis, progressive familial intrahepatic, 2

Cholestasis, progressive familial intrahepatic, 2; pfic2

Cholestasis, progressive familial intrahepatic, type 2

Progressive familial intrahepatic cholestasis caused by mutation in abcb11

Associated Genes (1)
 

NCBI-RefSeq:  ABCB11   (ATP binding cassette subfamily B member 11)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Progressive familial intrahepatic cholestasis type 2 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations