HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 613870
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis 257 / 7739
2
(HPO:0000414) Bulbous nose 63 / 7739
3
(HPO:0003196) Short nose 264 / 7739
4
(HPO:0000378) Cupped ear 34 / 7739
5
(HPO:0000358) Posteriorly rotated ears 163 / 7739
6
(HPO:0002251) Aganglionic megacolon 78 / 7739
7
(HPO:0002459) Dysautonomia 34 / 7739
8
(HPO:0001182) Tapered finger 93 / 7739
9
(HPO:0009626) Contractures of the interphalangeal joint of the thumb 2 / 7739
10
(HPO:0001795) Hyperconvex nail 13 / 7739
11
(HPO:0001629) Ventricular septal defect 316 / 7739
12
(HPO:0001631) Atria septal defect 274 / 7739
13
(HPO:0001643) Patent ductus arteriosus 228 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hofstra et al. (1999) described a patient with skip-lesions Hirschsprung disease, cardiac defects (ductus arteriosus, small subaortic ventricular septal defect, and small atrial septal defect), craniofacial abnormalities (cupped ears which were immature and posteriorly rotated and small nose ...
Molecular genetics OMIM By screening all 19 exons of the ECE1 gene in a patient with Hirschsprung disease, cardiac defects, and autonomic dysfunction, Hofstra et al. (1999) identified a heterozygous C-to-T transition, resulting in the substitution of cysteine for arginine at ...