Trait

Intractable diarrhea

HPO HP:0002041

Also called: Intractable diarrhoea
Body system: Abnormality of the digestive system

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

Read the genes linked to Intractable diarrhea, and the rest of your genome, with one test.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test

13 genes linked to Intractable diarrhea

Changes in these genes cause rare conditions in which Intractable diarrhea 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
DCLRE1CDNA cross-link repair 1C	Always	In 2 conditions
EPCAMepithelial cell adhesion molecule	Always	In 1 condition
RAG1recombination activating 1	Always	In 1 condition
RAG2recombination activating 2	Always	In 1 condition
SKIC3SKI3 subunit of superkiller complex	Always	In 2 conditions
SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2	Always	In 1 condition
SKIC2SKI2 subunit of superkiller complex	Very often (80–99%)	In 1 condition
NEUROG3neurogenin 3	Often (30–79%)	In 1 condition
SYKspleen associated tyrosine kinase	Sometimes (5–29%)	In 1 condition
C5complement C5	Not recorded	In 1 condition
ITGA6integrin subunit alpha 6	Not recorded	In 1 condition
ITGB4integrin subunit beta 4	Not recorded	In 1 condition
PLECplectin	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

Diarrhea

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.

One test. A lifetime of answers.