Diseases of the digestive system
Disorders of gallbladder, biliary tract and pancreas
Autosomal recessive
7q21.12
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 602347.1 | Lebanon | Unknown | Yes | Pruritus; Hepatic fibrosis; Elevated hep... Pruritus; Hepatic fibrosis; Elevated hepatic transaminase; Increased serum bile acid concentration  | NM_000443.4:c.1768C>T | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |