MCID: FML336
MIFTS: 9

Familial Patent Arterial Duct

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

Aliases & Classifications for Familial Patent Arterial Duct

MalaCards integrated aliases for Familial Patent Arterial Duct:

Name: Familial Patent Arterial Duct 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA466729

Summaries for Familial Patent Arterial Duct

MalaCards based summary : Familial Patent Arterial Duct is related to patent ductus arteriosus 1. An important gene associated with Familial Patent Arterial Duct is PRDM6 (PR/SET Domain 6). Related phenotype is respiratory system.

Related Diseases for Familial Patent Arterial Duct

Diseases related to Familial Patent Arterial Duct via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 9.2 TFAP2B PRDM6

Symptoms & Phenotypes for Familial Patent Arterial Duct

MGI Mouse Phenotypes related to Familial Patent Arterial Duct:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 PRDM6 TFAP2B

Drugs & Therapeutics for Familial Patent Arterial Duct

Search Clinical Trials , NIH Clinical Center for Familial Patent Arterial Duct

Genetic Tests for Familial Patent Arterial Duct

Anatomical Context for Familial Patent Arterial Duct

Publications for Familial Patent Arterial Duct

Articles related to Familial Patent Arterial Duct:

# Title Authors PMID Year
1
Patent arterial duct. 61
19591690 2009

Variations for Familial Patent Arterial Duct

Expression for Familial Patent Arterial Duct

Search GEO for disease gene expression data for Familial Patent Arterial Duct.

Pathways for Familial Patent Arterial Duct

GO Terms for Familial Patent Arterial Duct

Biological processes related to Familial Patent Arterial Duct according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.96 TFAP2B PRDM6
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 TFAP2B PRDM6

Molecular functions related to Familial Patent Arterial Duct according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.16 TFAP2B PRDM6
2 sequence-specific DNA binding GO:0043565 8.96 TFAP2B PRDM6
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 TFAP2B PRDM6

Sources for Familial Patent Arterial Duct

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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