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Trait

Biliary cirrhosis

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.

HPO HP:0002613

Summary

Body system
Abnormality of the digestive system

20 genes linked to Biliary cirrhosis

Changes in these genes cause rare conditions in which Biliary cirrhosis 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.

GeneHow often it is seenConditions
PSKH1protein serine kinase H1AlwaysIn 1 condition
IL12Ainterleukin 12AVery often (80–99%)In 1 condition
IL12RB1interleukin 12 receptor subunit beta 1Very often (80–99%)In 1 condition
IRF5interferon regulatory factor 5Very often (80–99%)In 1 condition
MMEL1membrane metalloendopeptidase like 1Very often (80–99%)In 1 condition
POU2AF1POU class 2 homeobox associating factor 1Very often (80–99%)In 1 condition
SPIBSpi-B transcription factorVery often (80–99%)In 1 condition
TNFSF15TNF superfamily member 15Very often (80–99%)In 1 condition
TNPO3transportin 3Very often (80–99%)In 1 condition
NPHP3nephrocystin 3Often (30–79%)In 2 conditions
IFT56intraflagellar transport 56Sometimes (5–29%)In 1 condition
KRT18keratin 18Sometimes (5–29%)In 1 condition
ABCB4ATP binding cassette subfamily B member 4Rarely (1–4%)In 1 condition
PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductinRarely (1–4%)In 1 condition
CFTRCF transmembrane conductance regulatorNot recordedIn 1 condition
DCDC2doublecortin domain containing 2Not recordedIn 1 condition
FCGR2AFc gamma receptor IIaNot recordedIn 1 condition
LBRlamin B receptorNot recordedIn 1 condition
TGFB1transforming growth factor beta 1Not recordedIn 1 condition
WDR35WD repeat domain 35Not recordedIn 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

Abnormal biliary tract morphology

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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