MCID: PRS054
MIFTS: 22

Persistent Truncus Arteriosus malady

Summaries for Persistent Truncus Arteriosus

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Persistent truncus arteriosus (or Truncus arteriosus), also known as Common arterial trunk, is a rare... more...

MalaCards: Persistent Truncus Arteriosus is related to cardiac tamponade and patent foramen ovale. An important gene associated with Persistent Truncus Arteriosus is NKX2-6 (NK2 homeobox 6). Affiliated tissues include heart, and related mouse phenotypes are normal and respiratory system.

Description from OMIM:46 217095

Aliases & Classifications for Persistent Truncus Arteriosus

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Sources:
42NIH Rare Diseases, 46OMIM
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Aliases & Descriptions:

persistent truncus arteriosus 42 46


Related Diseases for Persistent Truncus Arteriosus

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17GeneCards, 18GeneDecks
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Diseases related to Persistent Truncus Arteriosus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiac tamponade10.3
2patent foramen ovale10.3
3polydactyly10.3
4orbital cyst10.3
5endocarditis10.3
6infective endocarditis10.3
7ventricular septal defect10.3
8conotruncal heart malformations10.0NKX2-6, GATA6

Graphical network of diseases related to Persistent Truncus Arteriosus:



Diseases related to persistent truncus arteriosus

Clinical Features for Persistent Truncus Arteriosus

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46OMIM
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Clinical features from OMIM:

217095

Drugs & Therapeutics for Persistent Truncus Arteriosus

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Persistent Truncus Arteriosus

Drug clinical trials:

Search ClinicalTrials for Persistent Truncus Arteriosus

Search NIH Clinical Center for Persistent Truncus Arteriosus

Search CenterWatch for Persistent Truncus Arteriosus

Genetic Tests for Persistent Truncus Arteriosus

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Anatomical Context for Persistent Truncus Arteriosus

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Persistent Truncus Arteriosus:

32
Heart

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Persistent Truncus Arteriosus:
id TissueAnatomical CompartmentCell Relevance
1 Neural CrestCardiac Neural CrestCardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
2 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
3 HeartOutflow TractNeural Crest Outflow Tract Cells Potential therapeutic candidate, affected by disease
4 HeartAorticopulmonary Septum  Affected by disease
5 HeartOutflow Tract Cushion  Affected by disease

Animal Models for Persistent Truncus Arteriosus or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Persistent Truncus Arteriosus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1NKX2-6, GATA6
2MP:00053889.0NKX2-6, GATA6
3MP:00053808.8NKX2-6, GATA6

Publications for Persistent Truncus Arteriosus

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Genetic Variations for Persistent Truncus Arteriosus

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Persistent Truncus Arteriosus:

62
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Expression for genes affiliated with Persistent Truncus Arteriosus

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Persistent Truncus Arteriosus

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Pathways for genes affiliated with Persistent Truncus Arteriosus

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Compounds for genes affiliated with Persistent Truncus Arteriosus

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GO Terms for genes affiliated with Persistent Truncus Arteriosus

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16Gene Ontology
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Biological processes related to Persistent Truncus Arteriosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic processGO:0430669.1NKX2-6, GATA6

Molecular functions related to Persistent Truncus Arteriosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.1NKX2-6, GATA6

Products for genes affiliated with Persistent Truncus Arteriosus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Persistent Truncus Arteriosus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet