Trait

Extrahepatic cholestasis

Impairment of bile flow due to obstruction in large bile ducts outside the liver.

HPO HP:0012334

Body system: Abnormality of the digestive system

Reference genomeGRCh38hg38

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10 genes linked to Extrahepatic cholestasis

Changes in these genes cause rare conditions in which Extrahepatic cholestasis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
BRCA1BRCA1 DNA repair associated	Often (30–79%)	In 1 condition
BRCA2BRCA2 DNA repair associated	Often (30–79%)	In 1 condition
CDKN2Acyclin dependent kinase inhibitor 2A	Often (30–79%)	In 1 condition
KRASKRas proto-oncogene, GTPase	Often (30–79%)	In 1 condition
PALB2partner and localizer of BRCA2	Often (30–79%)	In 1 condition
PALLDpalladin, cytoskeletal associated protein	Often (30–79%)	In 1 condition
RABL3RAB, member of RAS oncogene family like 3	Often (30–79%)	In 1 condition
SMAD4SMAD family member 4	Often (30–79%)	In 1 condition
TP53tumor protein p53	Often (30–79%)	In 1 condition
CDKN1Bcyclin dependent kinase inhibitor 1B	Sometimes (5–29%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Slowed or blocked flow of bile from liver

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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