Hirschsprung disease, cardiac defects, and autonomic dysfunction
MONDO:0013473Mondo
Findings
No curated finding names Hirschsprung disease, cardiac defects, and autonomic dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- 1 of 1 reported patient
- Aganglionic megacolonHPOHP:0002251
- 1 of 1 reported patient
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cupped earHPOHP:0000378
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Hyperconvex nailHPOHP:0001795
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Interphalangeal thumb joint contractureHPOHP:0009626
- 1 of 1 reported patient
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
Show the remaining 7
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Prominent nasal bridgeHPOHP:0000426
- 1 of 1 reported patient
- Short noseHPOHP:0003196
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- TachycardiaHPOHP:0001649
- 1 of 1 reported patient
- Tapered fingerHPOHP:0001182
- 1 of 1 reported patient
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.
- ECE1HGNC:3146
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of