Diseases of the digestive system
Disorders of gallbladder, biliary tract and pancreas
Autosomal recessive
2q31.1
Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 605479.1 | Lebanon | Unknown | Yes | Hepatitis; Cholestasis Hepatitis; Cholestasis  | NM_003742.4:c.487T>G | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |