Hirschsprung disease, susceptibility to, 4
Findings
No curated finding names Hirschsprung disease, susceptibility to, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013384), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
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.
- Aganglionic megacolonHPOHP:0002251
- 2 of 2 reported patients
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.
- EDN3HGNC:3178
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
Other names
3 names
Resolves to: Hirschsprung disease, susceptibility to, 4
- Also called
- EDN3 Hirschsprung diseaseHirschsprung disease caused by mutation in EDN3Hirschsprung disease, susceptibility to, type 4