MCID: PTN013
MIFTS: 15

Patent Ductus Arteriosus 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Patent Ductus Arteriosus 2

MalaCards integrated aliases for Patent Ductus Arteriosus 2:

Name: Patent Ductus Arteriosus 2 57 75 6
Pda2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
patent ductus arteriosus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617035
MeSH 44 D004374
SNOMED-CT via HPO 69 263681008 83330001

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, is also known as pda2. 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 : 75 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

Symptoms & Phenotypes for Patent Ductus Arteriosus 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus


Clinical features from OMIM:

617035

Human phenotypes related to Patent Ductus Arteriosus 2:

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

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

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

Variations for Patent Ductus Arteriosus 2

ClinVar genetic disease variations for Patent Ductus Arteriosus 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh37 Chromosome 6, 50796397: 50796397
2 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh38 Chromosome 6, 50828684: 50828684
3 TFAP2B NM_003221.3(TFAP2B): c.541-2A> T single nucleotide variant Pathogenic rs879253870 GRCh37 Chromosome 6, 50796330: 50796330
4 TFAP2B NM_003221.3(TFAP2B): c.541-2A> T single nucleotide variant Pathogenic rs879253870 GRCh38 Chromosome 6, 50828617: 50828617
5 TFAP2B NM_003221.3(TFAP2B): c.439_442delCCGG (p.Pro147Thrfs) deletion Pathogenic rs879253871 GRCh37 Chromosome 6, 50791477: 50791480
6 TFAP2B NM_003221.3(TFAP2B): c.439_442delCCGG (p.Pro147Thrfs) deletion Pathogenic rs879253871 GRCh38 Chromosome 6, 50823764: 50823767

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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