MCID: CNT061
MIFTS: 49

Conotruncal Heart Malformations malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Conotruncal Heart Malformations

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Sources:
46OMIM, 30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 46 42 22 61
Conotruncal Anomaly Face Syndrome 46 9 20 22 61
Double Outlet Right Ventricle 8 42 10 48
Persistent Truncus Arteriosus 46 30 42
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 8 48
Taussig-Bing Syndrome 8 48
Double Outlet Right Ventricle, Unspecified 8
 
Conotruncal Heart Malformations, Variable 46
Double Outlet Right Ventricle Nos 8
Double-Outlet Right Ventricle 46
Dextrotransposition of Aorta 8
Conotruncal Cardiac Defects 42
Cthm 42
Dorv 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
double outlet right ventricle:
Prevalence: 1-5/10000 (Germany); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM46 217095
Disease Ontology8 DOID:6406
MeSH33 D004310
ICD9CM27 745.11
Orphanet48 3426, 99045, 101042
MESH via Orphanet34 D004310
ICD10 via Orphanet26 Q20.1
UMLS via Orphanet62 C0013069
ICD1025 Q20.1

Summaries for Conotruncal Heart Malformations

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MalaCards based summary: Conotruncal Heart Malformations, also known as conotruncal anomaly face syndrome, is related to tetralogy of fallot and atrioventricular septal defect, and has symptoms including tetralogy of fallot, transposition of the great arteries and patent ductus arteriosus. An important gene associated with Conotruncal Heart Malformations is GDF1 (growth differentiation factor 1), and among its related pathways are Signaling by NODAL and Transcriptional Regulatory Network in Embryonic Stem Cell. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are craniofacial and digestive/alimentary.

Description from OMIM:46 217095

Related Diseases for Conotruncal Heart Malformations

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Diseases in the Conotruncal Heart Malformations family:

Cfc1-Related Conotruncal Heart Malformations

Diseases related to Conotruncal Heart Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot32.0NKX2-5
2atrioventricular septal defect31.4NKX2-5
3ventricular septal defect31.3GDF1, CFC1, ZFPM2, NKX2-5, TBX1
4velocardiofacial syndrome31.2NKX2-6, TBX1, CTHM
5situs inversus31.1ZIC3, GDF1
6holt-oram syndrome30.9TBX1
7congenital heart disease30.8TBX1, NKX2-5, ZIC3
8digeorge syndrome30.7CTHM, TBX1
9transposition of the great arteries, dextro-looped 230.7CFC1, HTX2
10transposition of the great arteries11.0
11pulmonic stenosis10.8
12double outlet right ventricle with subaortic ventricular septal defect10.8
13dextrocardia10.8
14complete atrioventricular canal10.8
15aortopulmonary window10.7
16double outlet right ventricle, fallot type10.7
17double outlet right ventricle with doubly committed ventricular septal defect10.7
18cor triatriatum10.6
19pentalogy of cantrell10.6
20left ventricular outflow tract obstruction10.6
21aneurysm10.6
22double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.6
23heterotaxy10.6
24mitral atresia10.5
25truncus arteriosus10.5
26criss-cross heart10.5
27cfc1-related conotruncal heart malformations10.5
28charge syndrome10.3
29ritscher-schinzel syndrome10.3
30phenylketonuria10.3
31moebius syndrome10.3
32right atrial isomerism10.3
33total anomalous pulmonary venous return10.3
34congestive heart failure10.3
35hydrocephalus10.3
36thrombocytopenia10.3
37microcephaly10.3
38cornelia de lange syndrome10.3
39hypertrophic cardiomyopathy10.3
40tracheal stenosis10.3
41arteriovenous malformation10.3
42discrete subaortic stenosis10.3
43down syndrome10.3
44aortic aneurysm10.3
45endocarditis10.3
46infective endocarditis10.3
47pulmonary embolism10.3
48subvalvular aortic stenosis10.3
49visceral heterotaxy10.3
50myotonic dystrophy10.3

Graphical network of the top 20 diseases related to Conotruncal Heart Malformations:



Diseases related to conotruncal heart malformations

Symptoms for Conotruncal Heart Malformations

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Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

HPO human phenotypes related to Conotruncal Heart Malformations:

(show all 10)
id Description Frequency HPO Source Accession
1 tetralogy of fallot hallmark (90%) HP:0001636
2 transposition of the great arteries hallmark (90%) HP:0001669
3 patent ductus arteriosus typical (50%) HP:0001643
4 abnormality of the aorta typical (50%) HP:0001679
5 abnormality of the pulmonary artery typical (50%) HP:0004414
6 autosomal recessive inheritance HP:0000007
7 truncus arteriosus HP:0001660
8 transposition of the great arteries HP:0001669
9 double outlet right ventricle HP:0001719
10 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Conotruncal Heart Malformations

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Drug clinical trials:

Search ClinicalTrials for Conotruncal Heart Malformations

Search NIH Clinical Center for Conotruncal Heart Malformations

Genetic Tests for Conotruncal Heart Malformations

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Genetic tests related to Conotruncal Heart Malformations:

id Genetic test Affiliating Genes
1 Conotruncal Anomaly Face Syndrome20 22
2 Conotruncal Heart Malformations22

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

31
Heart

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Conotruncal Heart Malformations:
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 Conotruncal Heart Malformations or affiliated genes

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MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0TBX1, ZIC3, GDF1, NKX2-5
2MP:00053818.9GDF1, ZIC3, TBX1, CFC1
3MP:00053878.7TBX1, NKX2-5, ZIC3, CFC1, GDF1
4MP:00053978.4CFC1, ZIC3, NKX2-5, TBX1, GATA6, GDF1
5MP:00053708.3CFC1, ZIC3, ZFPM2, GATA6, GDF1
6MP:00053698.2ZFPM2, NKX2-5, TBX1, GATA6
7MP:00053808.2GDF1, NKX2-5, CFC1, GATA6, TBX1, NKX2-6
8MP:00053788.1ZIC3, NKX2-6, NKX2-5, TBX1, CFC1, GDF1
9MP:00053848.0GATA6, TBX1, NKX2-5, NKX2-6, ZFPM2, GDF1
10MP:00028737.6ZIC3, NKX2-5, TBX1, GATA6, ZFPM2, GDF1
11MP:00053887.4TBX1, GDF1, GATA6, ZFPM2, CFC1, ZIC3
12MP:00053857.4GDF1, CFC1, ZFPM2, NKX2-6, NKX2-5, TBX1
13MP:00107687.3GDF1, TBX1, NKX2-5, NKX2-6, ZFPM2, GATA6

Publications for Conotruncal Heart Malformations

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Variations for Conotruncal Heart Malformations

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UniProtKB/Swiss-Prot genetic disease variations for Conotruncal Heart Malformations:

63
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675
5ZFPM2p.Glu30GlyVAR_017942rs121908601
6ZFPM2p.Ile227ValVAR_072074

Clinvar genetic disease variations for Conotruncal Heart Malformations:

5
id Gene Variation 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 Conotruncal Heart Malformations

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Search GEO for disease gene expression data for Conotruncal Heart Malformations.

Pathways for genes affiliated with Conotruncal Heart Malformations

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Pathways related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9CFC1, GDF1
29.5GATA6, ZIC3
39.3GATA6, TBX1, NKX2-5

Compounds for genes affiliated with Conotruncal Heart Malformations

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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1zinc44 249.4GATA6, NKX2-5, ZIC3, ZFPM2

GO Terms for genes affiliated with Conotruncal Heart Malformations

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Biological processes related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:005501410.1NKX2-5, NKX2-6
2ventricular cardiac muscle cell developmentGO:005501510.1NKX2-5, NKX2-6
3embryonic heart tube developmentGO:003505010.1NKX2-6, NKX2-5
4positive regulation of cardioblast differentiationGO:005189110.0GATA6, NKX2-5
5thyroid gland developmentGO:003087810.0NKX2-5, TBX1
6cardiac muscle cell differentiationGO:005500710.0GATA6, NKX2-5
7heart morphogenesisGO:000300710.0TBX1, NKX2-5
8heart loopingGO:00019479.8NKX2-5, ZIC3
9pharyngeal system developmentGO:00600379.8NKX2-6, NKX2-5, TBX1
10right ventricular cardiac muscle tissue morphogenesisGO:00032219.7NKX2-5, ZFPM2
11determination of left/right symmetryGO:00073689.6ZIC3, CFC1, TBX1
12positive regulation of cell proliferationGO:00082849.6TBX1, NKX2-5, NKX2-6
13ventricular septum morphogenesisGO:00604129.6ZFPM2, NKX2-5
14vasculogenesisGO:00015709.5NKX2-5, ZFPM2
15anterior/posterior pattern specificationGO:00099529.5TBX1, ZIC3
16negative regulation of apoptotic processGO:00430669.5NKX2-5, GATA6, NKX2-6
17cell differentiationGO:00301549.5NKX2-5, NKX2-6, ZIC3
18lung developmentGO:00303249.1ZIC3, ZFPM2
19negative regulation of transcription, DNA-templatedGO:00458929.0NKX2-5, ZFPM2, GATA6
20positive regulation of transcription, DNA-templatedGO:00458938.9ZIC3, TBX1, NKX2-5
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.9GATA6, ZFPM2, NKX2-5
22outflow tract septum morphogenesisGO:00031488.9NKX2-5, TBX1, GATA6, ZFPM2
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.3ZIC3, GATA6, TBX1, NKX2-5, ZFPM2

Molecular functions related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.7GATA6, NKX2-5
2sequence-specific DNA bindingGO:00435658.8ZIC3, NKX2-6, NKX2-5, TBX1
3transcription factor bindingGO:00081348.6GATA6, NKX2-5, ZFPM2
4sequence-specific DNA binding transcription factor activityGO:00037008.5GATA6, TBX1, NKX2-5, NKX2-6, ZIC3

Sources for Conotruncal Heart Malformations

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet