Patent arterial duct

General Information (adopted from Orphanet):

Synonyms, Signs: PDA
PDA1
PAD
Persistent patency of the arterial duct
Patent ductus arteriosus
Number of Symptoms 17
OrphanetNr: 706
OMIM Id: 607411
ICD-10: Q25.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Multifactorial
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Arterial duct anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
2
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
3
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
4
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
5
 (HPO:0100760) Clubbing of toes Occasional [Orphanet] 24 / 7739
6
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
9
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
10
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
11
 (HPO:0001635) Congestive heart failure Frequent [Orphanet] 232 / 7739
12
 (HPO:0001643) Patent ductus arteriosus Very frequent [Orphanet] 228 / 7739
13
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
14
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
15
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
16
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
17
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, ...
Population genetics OMIM A possible explanation for the genetics of many sporadic diseases is the contribution of recessive loci with reduced penetrance. Mani et al. (2002) first searched for diseases with higher prevalence in populations with high rates of consanguinity, then ...