PDA2
MCID: PTN013
MIFTS: 22

Patent Ductus Arteriosus 2 (PDA2)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Patent Ductus Arteriosus 2

MalaCards integrated aliases for Patent Ductus Arteriosus 2:

Name: Patent Ductus Arteriosus 2 57 74 29 6
Pda2 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
patent ductus arteriosus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D004374

Summaries for Patent Ductus Arteriosus 2

OMIM : 57 The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by Mani et al., 2005). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by Khetyar et al., 2008). For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (607411). (617035)

MalaCards based summary : Patent Ductus Arteriosus 2, also known as pda2, is related to patent ductus arteriosus 1. An important gene associated with Patent Ductus Arteriosus 2 is TFAP2B (Transcription Factor AP-2 Beta). Affiliated tissues include heart, lung and placenta, and related phenotype is patent ductus arteriosus.

UniProtKB/Swiss-Prot : 74 Patent ductus arteriosus 2: A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth.

Related Diseases for Patent Ductus Arteriosus 2

Diseases in the Patent Ductus Arteriosus 1 family:

Patent Ductus Arteriosus 2 Patent Ductus Arteriosus 3

Diseases related to Patent Ductus Arteriosus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 10.4

Symptoms & Phenotypes for Patent Ductus Arteriosus 2

Human phenotypes related to Patent Ductus Arteriosus 2:

32
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 32 HP:0001643

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus

Clinical features from OMIM:

617035

Drugs & Therapeutics for Patent Ductus Arteriosus 2

Search Clinical Trials , NIH Clinical Center for Patent Ductus Arteriosus 2

Genetic Tests for Patent Ductus Arteriosus 2

Genetic tests related to Patent Ductus Arteriosus 2:

# Genetic test Affiliating Genes
1 Patent Ductus Arteriosus 2 29 TFAP2B

Anatomical Context for Patent Ductus Arteriosus 2

MalaCards organs/tissues related to Patent Ductus Arteriosus 2:

41
Heart, Lung, Placenta

Publications for Patent Ductus Arteriosus 2

Articles related to Patent Ductus Arteriosus 2:

(show all 18)
# Title Authors PMID Year
1
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. 8 71
21643846 2011
2
Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. 8 71
18752453 2008
3
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. 8 71
15684060 2005
4
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. 38
27418595 2016
5
Preparative and biosynthetic insights into pdA2E and isopdA2E, retinal-derived fluorophores of retinal pigment epithelial lipofuscin. 38
25414195 2014
6
Pi*-pi* bonding interactions generated by halogen oxidation of zirconium(IV) redox-active ligand complexes. 38
18331029 2008
7
Remote control of pulmonary blood flow: initial clinical experience. 38
14688686 2003
8
A new echocardiographic approach in assessing pulmonary vascular bed in patients with congenital heart disease: pulmonary artery stiffness. 38
12826499 2003
9
[Helical computerized tomography of the thorax in the diagnosis of unresolved chronic pulmonary thromboembolism]. 38
11534096 2000
10
Surgical experience with congenital heart disease in Down's syndrome. 38
11084787 2000
11
Experience with minimally invasive surgery in infants. 38
9926808 1998
12
Epidemiology of rheumatic and congenital heart diseases in school children. 38
1634785 1992
13
Subcloning of bph genes from Pseudomonas testosteroni B-356 in Pseudomonas putida and Escherichia coli: evidence for dehalogenation during initial attack on chlorobiphenyls. 38
1746948 1991
14
Cloning and expression of genes involved in 4-chlorobiphenyl transformation by Pseudomonas testosteroni: homology to polychlorobiphenyl-degrading genes in other bacteria. 38
2311936 1990
15
Palliative surgery for single ventricle heart malformations. 38
6198302 1983
16
[Abnormal pulmonary artery of aortic origin simulating the symptoms of patent ductus arteriosus (2 cases)]. 38
6036819 1967
17
["SEVERE DIASTOLIC VARIETY" OF PATENT DUCTUS ARTERIOSUS (2 CASES)]. 38
14183648 1964
18
[PECULIAR DIASTOLIC MURMUR IN PATENT DUCTUS ARTERIOSUS (2 CASES)]. 38
14197528 1964

Variations for Patent Ductus Arteriosus 2

ClinVar genetic disease variations for Patent Ductus Arteriosus 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2B NM_003221.4(TFAP2B): c.541-2A> T single nucleotide variant Pathogenic rs879253870 6:50796330-50796330 6:50828617-50828617
2 TFAP2B NM_003221.4(TFAP2B): c.435_438CCGG[1] (p.Pro147fs) short repeat Pathogenic rs879253871 6:50791477-50791480 6:50823764-50823767
3 TFAP2B NM_003221.4(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 6:50796397-50796397 6:50828684-50828684

Expression for Patent Ductus Arteriosus 2

Search GEO for disease gene expression data for Patent Ductus Arteriosus 2.

Pathways for Patent Ductus Arteriosus 2

GO Terms for Patent Ductus Arteriosus 2

Sources for Patent Ductus Arteriosus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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