Hirschsprung disease
Findings
No curated finding names Hirschsprung disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Definition from the Mondo Disease Ontology (MONDO:0018309), read 2026-09-29. CC BY 4.0.
Features
19 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
- Very frequent (80% to 99% of cases)
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Functional abnormality of the gastrointestinal tractHPOHP:0012719
- Very frequent (80% to 99% of cases)
- Intestinal obstructionHPOHP:0005214
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Bilious emesisHPOHP:0034754
- Frequent (30% to 79% of cases)
- Delayed passage of meconiumHPOHP:6000224
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Colon perforationHPOHP:0031369
- Occasional (5% to 29% of cases)
Show the remaining 7
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
- EnterocolitisHPOHP:0004387
- Occasional (5% to 29% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- PolyhydramniosHPOHP:0001561
- Occasional (5% to 29% of cases)
- SepsisHPOHP:0100806
- Occasional (5% to 29% of cases)
Genes
8 genes
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.
- NRG1HGNC:7997
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ABCD1HGNC:61
- Supportive · Orphanet · Autosomal dominant · 2021
- ATP7AHGNC:869
- Supportive · Orphanet · Autosomal dominant · 2021
- ERBB2HGNC:3430
- Supportive · Orphanet · Autosomal dominant · 2021
- ERBB3HGNC:3431
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Hirschsprung disease
- Also called
- aganglionic megacoloncongenital intestinal aganglionosiscongenital megacolonHirschsprung disease susceptibilityHirschsprung's diseaseHSCRpelvirectal achalasia