TAC
MCID: DBL002
MIFTS: 58

Double Outlet Right Ventricle (TAC) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Double Outlet Right Ventricle

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Wikipedia:65 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

MalaCards based summary: Double Outlet Right Ventricle, also known as double outlet right ventricle with subpulmonary ventricular septal defect, is related to ventricular septal defect and persistent truncus arteriosus, and has symptoms including An important gene associated with Double Outlet Right Ventricle is GDF1 (growth differentiation factor 1), and among its related pathways are Signaling by NODAL and Notch-mediated HES/HEY network. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:46 217095

Aliases & Classifications for Double Outlet Right Ventricle

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 46OMIM, 62UMLS, 57SNOMED-CT, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet, 25ICD10
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Double Outlet Right Ventricle, Aliases & Descriptions:

Name: Double Outlet Right Ventricle 8 42 10 48
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 8 48
Taussig-Bing Syndrome 8 48
Cluster Headaches and Other Trigeminal Autonomic Cephalgias 62
Double Outlet Right Ventricle, Unspecified 8
Double Outlet Right Ventricle Nos 8
Common Aortico-Pulmonary Trunk 48
 
Double-Outlet Right Ventricle 46
Dextrotransposition of Aorta 8
Common Arterial Trunk 48
Binge Eating Disorder 62
Truncus Arteriosus 48
Dorv 48
Tac 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
common aortico-pulmonary trunk:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
double outlet right ventricle:
Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:6406
MeSH34 D004310
ICD9CM27 745.11
OMIM46 217095
ICD10 via Orphanet26 Q20.0, Q20.1
MESH via Orphanet35 D004310
UMLS via Orphanet63 C0013069
ICD1025 Q20.0

Related Diseases for Double Outlet Right Ventricle

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

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect32.2GATA4, NKX2-5
2persistent truncus arteriosus31.9GATA6, NKX2-6
3atrioventricular septal defect31.6NKX2-5, GATA4
4situs inversus31.3ZIC3, GDF1
5congenital heart disease31.2ZIC3, GATA4
6holt-oram syndrome31.0TBX1
7tetralogy of fallot30.9GATA4, GATA6, NKX2-5, ZFPM2, GDF1
8velocardiofacial syndrome30.5NKX2-6, TBX1
9congenital diaphragmatic hernia30.4GATA4, ZFPM2
10transposition of the great arteries11.0
11pulmonic stenosis10.8
12complete atrioventricular canal10.8
13dextrocardia10.8
14double outlet right ventricle with subaortic ventricular septal defect10.8
15cor triatriatum10.7
16double outlet right ventricle with doubly committed ventricular septal defect10.7
17aortopulmonary window10.6
18pentalogy of cantrell10.6
19left ventricular outflow tract obstruction10.6
20aneurysm10.6
21double outlet right ventricle, fallot type10.6
22heterotaxy10.6
23double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.6
24digeorge syndrome10.5
25aortic arch interruption10.5
26mitral atresia10.5
27criss-cross heart10.5
28tetrology of fallot10.5NKX2-5
29diaphragmatic hernia 310.4ZFPM2
30ebstein anomaly10.4TBX1
31eisenmenger syndrome10.3
32univentricular heart10.3
33leukemia10.3
34congestive heart failure10.3
35coronary artery anomaly10.3
36hydrocephalus10.3
37hypertension10.3
38phenylketonuria10.3
39thrombocytopenia10.3
40down syndrome10.3
41discrete subaortic stenosis10.3
42cornelia de lange syndrome10.3
43hypertrophic cardiomyopathy10.3
44tracheal stenosis10.3
45arteriovenous malformation10.3
46aortic aneurysm10.3
47endocarditis10.3
48infective endocarditis10.3
49pulmonary embolism10.3
50subvalvular aortic stenosis10.3

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



Diseases related to double outlet right ventricle

Symptoms for Double Outlet Right Ventricle

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Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

HPO human phenotypes related to Double Outlet Right Ventricle:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 truncus arteriosus HP:0001660
3 transposition of the great arteries HP:0001669
4 double outlet right ventricle HP:0001719
5 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Double Outlet Right Ventricle

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Drug clinical trials:

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Genetic Tests for Double Outlet Right Ventricle

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Anatomical Context for Double Outlet Right Ventricle

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MalaCards organs/tissues related to Double Outlet Right Ventricle:

32
Heart, Bone

Animal Models for Double Outlet Right Ventricle or affiliated genes

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MGI Mouse Phenotypes related to Double Outlet Right Ventricle:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7DVL2, ISL1, ZIC3, TBX1
2MP:00053718.4DVL2, ISL1, PLXND1, ZIC3, TBX1, GATA6
3MP:00053818.2GDF1, CFC1, ISL1, ZIC3, TBX1, GATA4
4MP:00053828.1GDF1, DVL2, ISL1, PLXND1, ZIC3, NKX2-5
5MP:00053708.0GDF1, CFC1, ZFPM2, ZIC3, GATA6, GATA4
6MP:00053877.8GDF1, CFC1, ISL1, MYL12B, ZIC3, NKX2-5
7MP:00107717.7GATA4, TBX1, NKX2-5, ZFPM2, ISL1
8MP:00053907.7GDF1, CFC1, DVL2, ISL1, PLXND1, ZIC3
9MP:00053797.6GDF1, ISL1, ZFPM2, TBX1, GATA4
10MP:00053977.5GDF1, CFC1, MYL12B, ZIC3, NKX2-5, TBX1
11MP:00053697.3ISL1, ZFPM2, PLXND1, NKX2-5, TBX1, GATA6
12MP:00036317.3GDF1, DVL2, ISL1, PLXND1, ZIC3, NKX2-5
13MP:00053887.1GDF1, CFC1, ZFPM2, ZIC3, NKX2-6, NKX2-5
14MP:00053846.8GDF1, ISL1, ZFPM2, PLXND1, NKX2-6, NKX2-5
15MP:00053806.7ISL1, DVL2, CFC1, GDF1, PLXND1, ZIC3
16MP:00053786.6GDF1, CFC1, DVL2, ISL1, PLXND1, ZIC3
17MP:00053766.6DVL2, ZFPM2, MYL12B, PLXND1, NKX2-6, NKX2-5
18MP:00028736.1ZFPM2, ISL1, DVL2, GDF1, PLXND1, ZIC3
19MP:00053855.9GATA4, GDF1, CFC1, DVL2, ISL1, ZFPM2
20MP:00107685.8ZFPM2, ISL1, DVL2, CFC1, GDF1, PLXND1

Publications for Double Outlet Right Ventricle

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Articles related to Double Outlet Right Ventricle:

(show top 50)    (show all 379)
idTitleAuthorsYear
1
Successful biventricular repair of double-outlet right ventricle with transposition of the great arteries, pulmonary stenosis, and straddling mitral valve. (24694423)
2014
2
Anatomically corrected malposition or double outlet right ventricle? (24668994)
2014
3
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. (23427188)
2013
4
Anatomical repair of double outlet right ventricle associated with complete atrioventricular septal defect and pulmonary stenosis: extending the indications for aortic translocation. (22364399)
2012
5
Anesthetic management of tracheoesophageal fistula repair in a newborn with a double-outlet right ventricle. (22137517)
2011
6
Surgical management of left ventricular outflow tract obstruction after biventricular repair of double outlet right ventricle. (20191035)
2010
7
Double-root translocation for double-outlet right ventricle with noncommitted ventricular septal defect or double-outlet right ventricle with subpulmonary ventricular septal defect associated with pulmonary stenosis: an optimized solution. (20417745)
2010
8
Novel method for delivering the Amplatzer muscular VSD occluder in a patient with double outlet right ventricle after bidirectional Glenn procedure and pulmonary artery band. (19681125)
2009
9
22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization. (20045774)
2009
10
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
11
Giant aortic aneurysm 18 years after repair of double-outlet right ventricle with pulmonary stenosis. (17062204)
2006
12
Optimal surgical repair for double outlet right ventricle and intact ventricular septum. (15854997)
2005
13
Atrial tachycardia ablation in a patient with double outlet right ventricle corrected by surgery. (15116454)
2004
14
The morphologic nature of noncommitted ventricular septal defects in specimens with double-outlet right ventricle. (12407383)
2002
15
Single-stage anatomical repair of complete atrioventricular canal, double-outlet right ventricle, and cor triatriatum using ventricular septal defect translocation. (11996287)
2002
16
Pregnancy after undergoing the Fontan procedure for a double outlet right ventricle: report of a case. (11871820)
2002
17
Double-outlet right ventricle: An echocardiographic approach. (11486183)
2000
18
An unusual case of double outlet right ventricle. (11016186)
2000
19
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
20
Double-outlet right ventricle: an antenatal diagnostic dilemma. (10623990)
1999
21
Intraventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect: advantages of multiple patches. (10595979)
1999
22
Double-outlet right ventricle with nonrelated ventricular septal defect: surgical results using the multiple patches technique. (11276450)
1998
23
Double outlet right ventricle with intact atrial septum and restrictive ventricular septal defect: an analysis of two cases. (9770581)
1998
24
Echocardiography of the right ventricle-to-pulmonary artery homograft conduit of patients with transposition of the great arteries or double outlet right ventricle undergoing the Rastelli procedure. (9294916)
1997
25
Surgical approaches for double-outlet right ventricle or transposition of the great arteries associated with straddling atrioventricular valves. (8601966)
1996
26
Double-outlet right ventricle: morphologic demonstration using nuclear magnetic resonance imaging. (2050920)
1991
27
Oral prostaglandin E1 derivative (OP-1206) in an infant with double outlet right ventricle and pulmonary stenosis. Effect on ductus-dependent pulmonary circulation. (1774835)
1991
28
Mitral atresia with double outlet right ventricle in an asymptomatic adult. (2335403)
1990
29
Sudden death after repair of double-outlet right ventricle. (2297820)
1990
30
MR imaging of double-outlet right ventricle. (2783266)
1989
31
Exclusive double outlet right ventricle with atrioventricular concordance and pulmonary stenosis. Results of reconstructive surgery. (3272219)
1988
32
Modified Fontan procedure for biventricular hearts with complex forms of double-outlet right ventricle. (3180399)
1988
33
Progress in the understanding of congenital heart disease: double-outlet right ventricle {S,D,L}, definition of ventriculoarterial discordance, definition of transposition of the great arteries, and the illusion of crisscross AV relations. (15227249)
1988
34
Double outlet right ventricle with severe left ventricular outflow tract obstruction due to small ventricular septal defect and anomalous adherence of the mitral valve to the ventricular septum. (3437510)
1987
35
Double outlet right ventricle associated with common atrioventricular canal: report of nine anatomic specimens. (3734260)
1986
36
Double outlet right ventricle. Cross sectional echocardiographic findings, their anatomical explanation, and surgical relevance. (6743434)
1984
37
Disadvantageous closure of the interventricular communication in double outlet right ventricle. (6732997)
1984
38
Double-outlet right ventricle. Surgical results, 1970-1980. (6848885)
1983
39
Double outlet right ventricle: experimental morphogenesis in the chick embryo heart. (7155960)
1982
40
Repair of complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle: report of 10 patients. (6987965)
1980
41
Caplike double-horned double-outlet right ventricle. Report of two cases. (154599)
1979
42
Double-outlet right ventricle. Anatomic and angiocardiographic correlations. (682686)
1978
43
Double-outlet right ventricle (S,D,D), VSD related to pulmonary artery, and pulmonic stenosis absent. Correction with an intraventricular conduit in infancy. (875443)
1977
44
Double outlet right ventricle with l-malposition and uncommitted ventricular septal defect. (1183465)
1975
45
Double outlet right ventricle with fibro-muscular obstruction to left ventricular outlet. (4709245)
1973
46
Communication of mitral valve with both ventricles associated with double outlet right ventricle. (4744796)
1973
47
The double-outlet right ventricle. A palliative approach. (5099872)
1971
48
Surgical treatment of dextrocardia with inversion of ventricles and double-outlet right ventricle. (4170429)
1968
49
Double outlet right ventricle with pulmonary stenosis. (6020823)
1967
50
Obstructive ventricular septal defect in double outlet right ventricle. (6020317)
1967

Variations for Double Outlet Right Ventricle

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UniProtKB/Swiss-Prot genetic disease variations for Double Outlet Right Ventricle:

64
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Clinvar genetic disease variations for Double Outlet Right Ventricle:

6
id Gene Name Type Significance SNP ID Assembly Location
1NKX2-6NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs)insertionPathogenicGRCh37Chr 8, 23560416: 23560417

Expression for genes affiliated with Double Outlet Right Ventricle

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Expression patterns in normal tissues for genes affiliated with Double Outlet Right Ventricle

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Pathways for genes affiliated with Double Outlet Right Ventricle

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CFC1, GDF1
29.5GATA6, GATA4
39.4NKX2-5, GATA4
49.4NKX2-5, GATA4
5
Show member pathways
9.3GATA4, ISL1
69.3GATA6, NKX2-5, DVL2
7
Show member pathways
9.2GDF1, CFC1, MYL12B, PLXND1
8
Show member pathways
9.1GATA6, GATA4, NKX2-5
98.9ISL1, NKX2-5, GATA4
108.7ZFPM2, GATA6, GATA4
118.6GATA6, ISL1, GATA4, ZIC3
128.2NKX2-5, GATA6, ISL1, GATA4, TBX1

Compounds for genes affiliated with Double Outlet Right Ventricle

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Sources:
44Novoseek, 24HMDB
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Compounds related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 248.9GATA4, GATA6, NKX2-5, ZIC3, ZFPM2

GO Terms for genes affiliated with Double Outlet Right Ventricle

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Cellular components related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.1GATA4, GATA6, TBX1, NKX2-5, NKX2-6, ZIC3

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:05501410.1NKX2-5, NKX2-6
2ventricular cardiac muscle cell developmentGO:05501510.0NKX2-6, NKX2-5
3embryonic heart tube developmentGO:03505010.0NKX2-5, NKX2-6
4cardiac muscle cell differentiationGO:05500710.0NKX2-5, GATA6
5thyroid gland developmentGO:0308789.9NKX2-5, TBX1
6cochlea morphogenesisGO:0901039.9DVL2, TBX1
7intestinal epithelial cell differentiationGO:0605759.9GATA4, GATA6
8determination of left/right symmetryGO:0073689.9CFC1, ZIC3, TBX1
9cardiac muscle hypertrophy in response to stressGO:0148989.8GATA6, GATA4
10positive regulation of cardiac muscle cell proliferationGO:0600459.8GATA4, GATA6
11cardiac right ventricle morphogenesisGO:0032159.6GATA4, ISL1
12heart morphogenesisGO:0030079.6DVL2, NKX2-5, TBX1
13neural crest cell migrationGO:0017559.6TBX1, ISL1
14right ventricular cardiac muscle tissue morphogenesisGO:0032219.6NKX2-5, ZFPM2
15outflow tract morphogenesisGO:0031519.6TBX1, ISL1, DVL2
16positive regulation vascular endothelial growth factor productionGO:0105759.5ISL1, GATA4
17positive regulation of cardioblast differentiationGO:0518919.5NKX2-5, GATA6, GATA4
18response to estrogenGO:0436279.4GATA4, GATA6
19BMP signaling pathwayGO:0305099.4GATA4, NKX2-5
20ventricular septum morphogenesisGO:0604129.4NKX2-5, ZFPM2
21heart loopingGO:0019479.4GATA4, NKX2-5, ZIC3
22positive regulation of angiogenesisGO:0457669.3GATA4, GATA6, ISL1
23canonical Wnt signaling pathwayGO:0600709.3DVL2, NKX2-5, GATA4
24pharyngeal system developmentGO:0600379.3ISL1, NKX2-6, NKX2-5, TBX1
25atrial septum morphogenesisGO:0604139.3GATA4, NKX2-5, ISL1
26positive regulation of cell proliferationGO:0082849.2ISL1, NKX2-6, NKX2-5, TBX1
27vasculogenesisGO:0015708.9NKX2-5, ZFPM2
28in utero embryonic developmentGO:0017018.8ZFPM2, GATA6, GATA4
29positive regulation of transcription, DNA-templatedGO:0458938.6DVL2, ZIC3, NKX2-5, TBX1, GATA4
30negative regulation of transcription from RNA polymerase II promoterGO:0001228.5GATA6, NKX2-5, ZFPM2, ISL1
31outflow tract septum morphogenesisGO:0031488.4GATA6, TBX1, NKX2-5, ZFPM2, ISL1
32positive regulation of transcription from RNA polymerase II promoterGO:0459447.4ISL1, ZFPM2, ZIC3, NKX2-5, TBX1, GATA6

Molecular functions related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:0011589.3GATA4, ISL1
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.2GATA4, GATA6, NKX2-5
3transcription regulatory region DNA bindingGO:0442129.0GATA4, GATA6, NKX2-5
4RNA polymerase II transcription coactivator activityGO:0011058.8ISL1, ZFPM2
5chromatin bindingGO:0036828.6ISL1, NKX2-5, GATA6, GATA4
6sequence-specific DNA bindingGO:0435658.6ZIC3, NKX2-6, NKX2-5, TBX1, GATA4
7transcription factor bindingGO:0081348.4ZFPM2, NKX2-5, GATA6, GATA4
8sequence-specific DNA binding transcription factor activityGO:0037007.8GATA4, GATA6, TBX1, NKX2-5, NKX2-6, ZIC3
9protein bindingGO:0055156.6GATA4, GATA6, NKX2-5, ZIC3, PLXND1, MYL12B

Products for genes affiliated with Double Outlet Right Ventricle

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Sources for Double Outlet Right Ventricle

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet