TAC
MCID: DBL002
MIFTS: 36

Double Outlet Right Ventricle (TAC) malady

Cardiovascular, Fetal categories

Summaries for Double Outlet Right Ventricle

Sources:
3CDC, 64Wikipedia, 47OMIM, 33MalaCards
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CDC:3 The CDC/ATSDR TAC currently has 11 vacancies for membership. Information about the vacant seats, eligibility, selection criteria, and nomination procedures is posted below. DEADLINE EXTENDED – Nominations due January 17, 2014. 

MalaCards: Double Outlet Right Ventricle, also known as double outlet right ventricle with subpulmonary ventricular septal defect, is related to ventricular septal defect and situs inversus, and has symptoms including patent ductus arteriosus, insterstitial/subtelomeric microdeletion/deletion and hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption. An important gene associated with Double Outlet Right Ventricle is HTX2 (heterotaxy 2 (autosomal dominant)), and among its related pathways is Signaling by NODAL. Affiliated tissues include heart, and related mouse phenotypes are skeleton and digestive/alimentary.

Wikipedia:64 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

Description from OMIM:47 217095

Aliases & Classifications for Double Outlet Right Ventricle

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH, 62UMLS via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular


Characteristics (Orphanet epidemiological data):

49
common aortico-pulmonary trunk:
Age of onset: Neonatal/infancy
double outlet right ventricle:
Age of onset: Childhood


Aliases & Descriptions:

double outlet right ventricle 8 43 10 49
double outlet right ventricle with subpulmonary ventricular septal defect 8 49
conotruncal heart malformations 49 61
taussig-bing syndrome 8 49
cluster headaches and other trigeminal autonomic cephalgias 61
double outlet right ventricle, unspecified 8
double outlet right ventricle nos 8
common aortico-pulmonary trunk 49
double-outlet right ventricle 47
dextrotransposition of aorta 8
common arterial trunk 49
binge eating disorder 61
truncus arteriosus 49
dorv 49
tac 49


External Ids:

Disease Ontology8 DOID:6406
ICD9CM27 745.11
MeSH35 D004310
OMIM47 217095
UMLS via Orphanet62 C1857586, C0013069
ICD10 via Orphanet26 Q20.0, Q20.1
MESH via Orphanet36 D004310
SNOMED-CT via Orphanet58 204299009, 7484005
ICD1025 Q20.0

Related Diseases for Double Outlet Right Ventricle

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Double Outlet Right Ventricle via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.7TBX1, CFC1, GDF1
2situs inversus30.9GDF1
3conotruncal heart malformations30.7NKX2-6, GDF1, TBX1
4digeorge syndrome30.7TBX1
5velocardiofacial syndrome30.2NKX2-6, TBX1
6persistent truncus arteriosus11.2
7bulimia nervosa11.1
8double outlet left ventricle11.1
9atrioventricular septal defect10.8
10pulmonic stenosis10.8
11complete atrioventricular canal10.8
12dextrocardia10.8
13mitral atresia10.7
14anorexia nervosa10.7
15left ventricular outflow tract obstruction10.6
16aortopulmonary window10.5
17heterotaxy10.5
18obsessive-compulsive disorder10.5
19obsessive-compulsive personality disorder10.5
20anxiety disorder10.5
21bipolar disorder10.5
22aortic arch interruption10.5
23aortic aneurysm10.5
24vascular disease10.5
25tricuspid atresia10.5
26subpulmonary stenosis10.5
27tau syndrome10.5
28criss-cross heart10.5
29complete atrioventricular canal - fallot tetralogy10.5
30double outlet right ventricle, fallot type10.5
31double outlet right ventricle with subaortic ventricular septal defect10.5
32double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.5
33double outlet right ventricle with doubly committed ventricular septal defect10.5
34attention deficit hyperactivity disorder10.4
35alexithymia10.4
36morbid obesity10.4
37cfc1-related conotruncal heart malformations10.4
38conotruncal heart malformations, variable10.4
39adult syndrome10.3
40eisenmenger syndrome10.3
41microphthalmia microtia fetal akinesia10.3
42univentricular heart10.3
43tracheal stenosis10.3
44coronary aneurysm10.3
45discrete subaortic stenosis10.3
46phenylketonuria10.3
47hypertrophic cardiomyopathy10.3
48n syndrome10.3
49subvalvular aortic stenosis10.3
50thrombocytopenia10.3

Graphical network of the top 20 diseases related to Double Outlet Right Ventricle:



Diseases related to double outlet right ventricle

Clinical Features for Double Outlet Right Ventricle

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

217095

Clinical synopsis from OMIM:

217095

Symptoms:

49 (show all 6)
  • patent ductus arteriosus
  • insterstitial/subtelomeric microdeletion/deletion
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • transposition of great vessels

Drugs & Therapeutics for Double Outlet Right Ventricle

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Double Outlet Right Ventricle

Drug clinical trials:

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Search NIH Clinical Center for Double Outlet Right Ventricle

Search CenterWatch for Double Outlet Right Ventricle

Genetic Tests for Double Outlet Right Ventricle

Anatomical Context for Double Outlet Right Ventricle

Sources:
33MalaCards
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MalaCards organs/tissues related to Double Outlet Right Ventricle:

33
Heart

Animal Models for Double Outlet Right Ventricle or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Double Outlet Right Ventricle:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8TBX1, GDF1, CFC1
2MP:00053818.7GDF1, TBX1, CFC1
3MP:00053888.1NKX2-6, TBX1, GDF1, CFC1
4MP:00053808.1NKX2-6, TBX1, GDF1, CFC1
5MP:00053858.0CFC1, GDF1, TBX1, NKX2-6
6MP:00053787.7CFC1, GDF1, TBX1, NKX2-6

Publications for Double Outlet Right Ventricle

Genetic Variations for Double Outlet Right Ventricle

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Double Outlet Right Ventricle:

63
id Symbol AA change Variation SNP ID
1p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Expression for genes affiliated with Double Outlet Right Ventricle

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Double Outlet Right Ventricle

Search GEO for disease gene expression data for Double Outlet Right Ventricle.

Pathways for genes affiliated with Double Outlet Right Ventricle

Sources:
54Reactome
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Pathways related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3CFC1, GDF1

Compounds for genes affiliated with Double Outlet Right Ventricle

GO Terms for genes affiliated with Double Outlet Right Ventricle

Sources:
16Gene Ontology
See all sources

Biological processes related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1determination of left/right symmetryGO:0073689.3CFC1, TBX1
2pharyngeal system developmentGO:0600378.8TBX1, NKX2-6

Products for genes affiliated with Double Outlet Right Ventricle

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Double Outlet Right Ventricle

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet