Patent ductus arteriosus - bicuspid aortic valve - hand anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Patent arterial duct - bicuspid aortic valve - hand anomalies
Number of Symptoms 10
OrphanetNr: 228190
OMIM Id: 604381
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Heart-hand syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009381) Short finger 45 / 7739
2
 (HPO:0001831) Short toe 52 / 7739
3
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
4
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
5
 (HPO:0010047) Short 5th metacarpal 8 / 7739
6
 (HPO:0005295) Pseudocoarctation of the aorta 1 / 7739
7
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
8
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
9
 (MedDRA:10072883) Brachydactyly 153 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: