Trait

Hepatic encephalopathy

Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.

HPO HP:0002480

Body system: Abnormality of the nervous system

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24 genes linked to Hepatic encephalopathy

Changes in these genes cause rare conditions in which Hepatic encephalopathy 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
DLDdihydrolipoamide dehydrogenase	Often (30–79%)	In 1 condition
CALRcalreticulin	Sometimes (5–29%)	In 1 condition
F5coagulation factor V	Sometimes (5–29%)	In 1 condition
FOCADfocadhesin	Sometimes (5–29%)	In 1 condition
IL12Ainterleukin 12A	Sometimes (5–29%)	In 1 condition
IL12RB1interleukin 12 receptor subunit beta 1	Sometimes (5–29%)	In 1 condition
IRF5interferon regulatory factor 5	Sometimes (5–29%)	In 1 condition
JAK2Janus kinase 2	Sometimes (5–29%)	In 1 condition
MMEL1membrane metalloendopeptidase like 1	Sometimes (5–29%)	In 1 condition
POU2AF1POU class 2 homeobox associating factor 1	Sometimes (5–29%)	In 1 condition
SLC25A13solute carrier family 25 member 13	Sometimes (5–29%)	In 1 condition
SPIBSpi-B transcription factor	Sometimes (5–29%)	In 1 condition
TNFSF15TNF superfamily member 15	Sometimes (5–29%)	In 1 condition
TNPO3transportin 3	Sometimes (5–29%)	In 1 condition
TULP3TUB like protein 3	Sometimes (5–29%)	In 1 condition
ZNFX1zinc finger NFX1-type containing 1	Sometimes (5–29%)	In 1 condition
ALMS1ALMS1 centrosome and basal body associated protein	Rarely (1–4%)	In 1 condition
EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3	Rarely (1–4%)	In 1 condition
RYR1ryanodine receptor 1	Rarely (1–4%)	In 1 condition
NBASNBAS subunit of NRZ tethering complex	Not recorded	In 1 condition
PCK1phosphoenolpyruvate carboxykinase 1	Not recorded	In 1 condition
RINT1RAD50 interactor 1	Not recorded	In 1 condition
SH2D1ASH2 domain containing 1A	Not recorded	In 1 condition
XIAPX-linked inhibitor of apoptosis	Not recorded	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

Encephalopathy

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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