Autosomal dominant coarctation of aorta

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr: 1455
OMIM Id:
ICD-10: Q25.1
UMLs: C2930803
MeSH: C531623
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Aorta coarctation
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
2
(HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
3
(HPO:0004383) Hypoplastic left heart Frequent [Orphanet] 29 / 7739
4
(HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: