GenTIGSA Gene Database on Rare Genetic Disorders
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Progressive Familial Intrahepatic Cholestasis Type 1  
Disease Aliases (18)

Byler disease

Byler's disease

Cholestasis, benign recurrent intrahepatic, 1

Cholestasis, progressive familial intrahepatic, 1

Cholestasis, benign recurrent intrahepatic 1

Cholestasis, fatal intrahepatic

Fic1 deficiency

Pfic1

Pfic1 progressive familial intrahepatic cholestasis type 1

Progressive familial intrahepatic cholestasis 1

Progressive familial intrahepatic cholestasis type 1 (pfic 1)

Progressive familial intrahepatic cholestasis type 1 (pfic1)

Severe atp8b1 deficiency

Summerskill syndrome

Cholestasis, progressive familial intrahepatic, 1; pfic1

Cholestasis, progressive familial intrahepatic, type 1

Progressive familial intrahepatic cholestasis type 1

Associated Genes (2)
 

NCBI-RefSeq:  ATP8B1   (ATPase phospholipid transporting 8B1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MYO5B   (Myosin VB)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Progressive familial intrahepatic cholestasis type 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations