PDA3
MCID: PTN012
MIFTS: 21

Patent Ductus Arteriosus 3 (PDA3)

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

Aliases & Classifications for Patent Ductus Arteriosus 3

MalaCards integrated aliases for Patent Ductus Arteriosus 3:

Name: Patent Ductus Arteriosus 3 57 72 29 6
Pda3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
patent ductus arteriosus 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617039
OMIM Phenotypic Series 57 PS607411
MeSH 44 D004374
SNOMED-CT via HPO 68 263681008 83330001

Summaries for Patent Ductus Arteriosus 3

OMIM® : 57 The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by Hajj and Dagle, 2012). For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (607411). (617039) (Updated 20-May-2021)

MalaCards based summary : Patent Ductus Arteriosus 3, is also known as pda3. An important gene associated with Patent Ductus Arteriosus 3 is PRDM6 (PR/SET Domain 6). Affiliated tissues include placenta and heart, and related phenotype is patent ductus arteriosus.

UniProtKB/Swiss-Prot : 72 Patent ductus arteriosus 3: 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 3

Diseases in the Patent Ductus Arteriosus 1 family:

Patent Ductus Arteriosus 2 Patent Ductus Arteriosus 3

Symptoms & Phenotypes for Patent Ductus Arteriosus 3

Human phenotypes related to Patent Ductus Arteriosus 3:

31
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 31 HP:0001643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
patent ductus arteriosus

Clinical features from OMIM®:

617039 (Updated 20-May-2021)

Drugs & Therapeutics for Patent Ductus Arteriosus 3

Search Clinical Trials , NIH Clinical Center for Patent Ductus Arteriosus 3

Genetic Tests for Patent Ductus Arteriosus 3

Genetic tests related to Patent Ductus Arteriosus 3:

# Genetic test Affiliating Genes
1 Patent Ductus Arteriosus 3 29 PRDM6

Anatomical Context for Patent Ductus Arteriosus 3

MalaCards organs/tissues related to Patent Ductus Arteriosus 3:

40
Placenta, Heart

Publications for Patent Ductus Arteriosus 3

Articles related to Patent Ductus Arteriosus 3:

(show all 21)
# Title Authors PMID Year
1
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. 6 57
27181681 2016
2
Genetics of patent ductus arteriosus susceptibility and treatment. 57
22414880 2012
3
Patent ductus arteriosus. Study of two families. 57
5897316 1965
4
Congenital heart defects in cats: A retrospective study of 162 cats (1996-2013). 61
26776580 2015
5
[Congenital mitral valve anomalies in adults. Clinical and echocardiographic study]. 61
21147575 2010
6
Acute peritoneal dialysis in very low birth weight neonates using a vascular catheter. 61
19885681 2010
7
Ibuprofen for the treatment of patent ductus arteriosus in preterm and/or low birth weight infants. 61
18254020 2008
8
Cri-du-chat syndrome. 61
18437967 2007
9
Diprosopus with multiple craniofacial, musculoskeletal, and cardiac defects in a purebred Suffolk lamb. 61
17987971 2007
10
Gel-based proteomics of unilateral irradiated striatum after gamma knife surgery. 61
17564426 2007
11
Morbidity and mortality of infants with very low birth weight in Japan: center variation. 61
16950943 2006
12
Covered stents in patients with congenital heart defects. 61
16502401 2006
13
Prevalence of congenital heart diseases in oral cleft patients. 61
12522651 2003
14
Proteomic analysis of rat heart in ischemia and ischemia-reperfusion using fluorescence two-dimensional difference gel electrophoresis. 61
12872233 2003
15
Expression of prostanoid receptors in human ductus arteriosus. 61
12598419 2003
16
Results of surgical treatment of congenital heart defects in children with Down's syndrome. 61
10441690 1999
17
Repair of congenital tracheal stenosis with a free tracheal autograft. 61
9576223 1998
18
Constriction of the fetal ductus arteriosus during prenatal betamethasone therapy. 61
7724144 1995
19
Aortopulmonary septal defects. A review of the literature and report of ten cases. 61
8040168 1994
20
Early experience in the surgical treatment of the univentricular heart. 61
8138278 1993
21
Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. 61
2395741 1990

Variations for Patent Ductus Arteriosus 3

ClinVar genetic disease variations for Patent Ductus Arteriosus 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRDM6 NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln) SNV Pathogenic 243049 rs879255278 GRCh37: 5:122515990-122515990
GRCh38: 5:123180296-123180296
2 PRDM6 NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser) SNV Pathogenic 243050 rs879255279 GRCh37: 5:122435544-122435544
GRCh38: 5:123099849-123099849
3 PRDM6 NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg) SNV Pathogenic 243051 rs879253872 GRCh37: 5:122506691-122506691
GRCh38: 5:123170997-123170997
4 PRDM6 NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly) SNV Uncertain significance 1031874 GRCh37: 5:122522888-122522888
GRCh38: 5:123187194-123187194

UniProtKB/Swiss-Prot genetic disease variations for Patent Ductus Arteriosus 3:

72
# Symbol AA change Variation ID SNP ID
1 PRDM6 p.Gln462Arg VAR_077015 rs879253872
2 PRDM6 p.Arg549Gln VAR_077016 rs879255278

Expression for Patent Ductus Arteriosus 3

Search GEO for disease gene expression data for Patent Ductus Arteriosus 3.

Pathways for Patent Ductus Arteriosus 3

GO Terms for Patent Ductus Arteriosus 3

Sources for Patent Ductus Arteriosus 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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