MCID: CNT061
MIFTS: 56

Conotruncal Heart Malformations malady

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

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 ventricular septal defect and tetralogy of fallot, 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:47 217095

Aliases & Classifications for Conotruncal Heart Malformations

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Sources:
47OMIM, 43NIH Rare Diseases, 24GTR, 62UMLS, 32LifeMap Discovery®, 11diseasecard, 22GeneTests, 10Disease Ontology, 12DISEASES, 49Orphanet, 57SNOMED-CT, 35MeSH, 29ICD9CM, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Conotruncal Heart Malformations, Aliases & Descriptions:

Name: Conotruncal Heart Malformations 47 43 24 62
Conotruncal Anomaly Face Syndrome 47 11 22 24
Double Outlet Right Ventricle 10 43 12 49
Persistent Truncus Arteriosus 47 32 43
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 10 49
Taussig-Bing Syndrome 10 49
Double Outlet Right Ventricle, Unspecified 10
 
Conotruncal Heart Malformations, Variable 47
Double Outlet Right Ventricle Nos 10
Double-Outlet Right Ventricle 47
Dextrotransposition of Aorta 10
Conotruncal Cardiac Defects 43
Cthm 43
Dorv 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
double outlet right ventricle:
Prevalence: 1-5/10000 (Germany); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM47 217095
Disease Ontology10 DOID:6406
MeSH35 D004310
ICD9CM29 745.11
Orphanet49 3426, 99045, 101042
MESH via Orphanet36 D004310
ICD10 via Orphanet28 Q20.1
UMLS via Orphanet63 C0013069
ICD1027 Q20.1

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/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.7GDF1, CFC1, ZFPM2, NKX2-5, TBX1
2tetralogy of fallot31.5NKX2-5
3atrioventricular septal defect31.2NKX2-5
4velocardiofacial syndrome31.1NKX2-6, TBX1, CTHM
5situs inversus31.0ZIC3, GDF1
6congenital heart disease30.8TBX1, NKX2-5, ZIC3
7digeorge syndrome30.7CTHM, TBX1
8holt-oram syndrome30.5TBX1
9transposition of the great arteries, dextro-looped 230.5CFC1, HTX2
10transposition of the great arteries11.0
11pulmonic stenosis10.8
12dextrocardia10.8
13complete atrioventricular canal10.8
14double outlet right ventricle with subaortic ventricular septal defect10.8
15aortopulmonary window10.7
16cor triatriatum10.6
17pentalogy of cantrell10.6
18left ventricular outflow tract obstruction10.6
19aneurysm10.6
20double outlet right ventricle, fallot type10.6
21double outlet right ventricle with doubly committed ventricular septal defect10.6
22heterotaxy10.6
23double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.6
24mitral atresia10.5
25truncus arteriosus10.5
26criss-cross heart10.5
27cfc1-related conotruncal heart malformations10.4
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 Syndrome22 24
2 Conotruncal Heart Malformations24

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

33
Heart

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

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:

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

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:

64
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:

7
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/GeneDecks:

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:
45Novoseek, 26HMDB
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Compounds related to Conotruncal Heart Malformations according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 269.4GATA6, 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/GeneDecks:

(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:003087810.0TBX1, NKX2-5
6cardiac muscle cell differentiationGO:005500710.0GATA6, NKX2-5
7heart morphogenesisGO:000300710.0TBX1, NKX2-5
8heart loopingGO:00019479.8NKX2-5, ZIC3
9pharyngeal system developmentGO:00600379.8TBX1, NKX2-5, NKX2-6
10right ventricular cardiac muscle tissue morphogenesisGO:00032219.7ZFPM2, NKX2-5
11determination of left/right symmetryGO:00073689.6TBX1, ZIC3, CFC1
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:00099529.5ZIC3, TBX1
16negative regulation of apoptotic processGO:00430669.5GATA6, NKX2-5, NKX2-6
17cell differentiationGO:00301549.5ZIC3, NKX2-6, NKX2-5
18lung developmentGO:00303249.1ZIC3, ZFPM2
19negative regulation of transcription, DNA-templatedGO:00458929.0ZFPM2, NKX2-5, GATA6
20positive regulation of transcription, DNA-templatedGO:00458938.9TBX1, NKX2-5, ZIC3
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.9GATA6, NKX2-5, ZFPM2
22outflow tract septum morphogenesisGO:00031488.9GATA6, TBX1, NKX2-5, ZFPM2
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.3ZFPM2, ZIC3, NKX2-5, TBX1, GATA6

Molecular functions related to Conotruncal Heart Malformations according to GeneCards/GeneDecks:

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

Products for genes affiliated with Conotruncal Heart Malformations

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Sources for Conotruncal Heart Malformations

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet