Trait

Sclerosing cholangitis

Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.

HPO HP:0030991

Also called: Fibrous cholangitis
Body system: Abnormality of the digestive system Abnormality of the immune system

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14 genes linked to Sclerosing cholangitis

Changes in these genes cause rare conditions in which Sclerosing cholangitis 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
CLDN1claudin 1	Always	In 1 condition
DCDC2doublecortin domain containing 2	Always	In 1 condition
RELREL proto-oncogene, NF-kB subunit	Always	In 1 condition
CIITAclass II major histocompatibility complex transactivator	Often (30–79%)	In 1 condition
ITGAVintegrin subunit alpha V	Often (30–79%)	In 1 condition
RFX5regulatory factor X5	Often (30–79%)	In 1 condition
RFXANKregulatory factor X associated ankyrin containing protein	Often (30–79%)	In 2 conditions
RFXAPregulatory factor X associated protein	Often (30–79%)	In 1 condition
CD40LGCD40 ligand	Sometimes (5–29%)	In 1 condition
DOCK8dedicator of cytokinesis 8	Sometimes (5–29%)	In 1 condition
KIF12kinesin family member 12	Sometimes (5–29%)	In 1 condition
ABCB4ATP binding cassette subfamily B member 4	Rarely (1–4%)	In 1 condition
MAP2K1mitogen-activated protein kinase kinase 1	Rarely (1–4%)	In 1 condition
NRASNRAS proto-oncogene, GTPase	Rarely (1–4%)	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

Bile duct inflammation

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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