inflammatory bowel disease 30
Findings
No curated finding names inflammatory bowel disease 30 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
Definition from the Mondo Disease Ontology (MONDO:0033643), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- 3 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 3 of 3 reported patients
- Bloody diarrheaHPOHP:0025085
- 1 of 3 reported patients
- Ileal strictureHPOHP:0020002
- 1 of 3 reported patients
- Protein-losing enteropathyHPOHP:0002243
- 1 of 3 reported patients
- VomitingHPOHP:0002013
- 1 of 3 reported patients
- DuodenitisHPOHP:0033117
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CARD8HGNC:17057
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: inflammatory bowel disease 30
- Also called
- IBD30inflammatory bowel disease (Crohn disease) 30