Hirschsprung disease, cardiac defects, and autonomic dysfunction

Preferred Label : Hirschsprung disease, cardiac defects, and autonomic dysfunction;

Symbol : HCAD;

CISMeF acronym : HCAD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the endothelin-converting enzyme 1 (ECE1, 600423.0001);

Prefixed ID : #613870;

Details

Origin ID

613870;

UMLS CUI

C3151237;

Automatic exact mappings (from CISMeF team)
- CALD1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- hirschsprung disease, cardiac defects, and autonomic dysfunction [MeSH concept]
- hirschsprung disease, cardiac defects, and autonomic dysfunction [MeSH Supplementary Concept]
Genes related to phenotype
- Endothelin-converting enzyme 1 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Aganglionic megacolon [HPO term]
- Agitation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Contractures of the interphalangeal joint of the thumb [HPO term]
- Cupped ear [HPO term]
- Hyperconvex nail [HPO term]
- Hypertension [HPO term]
- Micropenis [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Short nose [HPO term]
- Status epilepticus [HPO term]
- Tachycardia [HPO term]
- Tapered finger [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hirschsprung disease, cardiac defects, and autonomic dysfunction [MeSH Supplementary Concept]
- hirschsprung disease, cardiac defects, and autonomic dysfunction [MeSH concept]

Keyword's position in hierarchy(ies) :

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