congenital diarrhea 6
MONDO:0013825Mondo
Findings
No curated finding names congenital diarrhea 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.
Definition from the Mondo Disease Ontology (MONDO:0013825), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 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.
- Chronic diarrheaHPOHP:0002028
- 32 of 32 reported patients
- MeteorismHPOHP:6000319
- 27 of 28 reported patients
- Decreased circulating vitamin B12 concentrationHPOHP:0100502
- 6 of 32 reported patients
- Crohn's diseaseHPOHP:0100280
- 4 of 32 reported patients
- Abdominal painHPOHP:0002027
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.
- GUCY2CHGNC:4688
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
8 names
Resolves to: congenital diarrhea 6
- Also called
- congenital diarrhea caused by mutation in GUCY2Ccongenital diarrhea type 6congenital diarrhoea caused by mutation in GUCY2Ccongenital diarrhoea type 6diarrhea type 6diarrhoea type 6GUCY2C congenital diarrheaGUCY2C congenital diarrhoea