CTHM
MCID: CNT061
MIFTS: 34

Conotruncal Heart Malformations (CTHM) malady

Genetic diseases, Rare diseases categories
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Summaries for Conotruncal Heart Malformations

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MalaCards based summary: Conotruncal Heart Malformations, also known as conotruncal cardiac defects, is related to velocardiofacial syndrome and persistent truncus arteriosus, and has symptoms including An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 homeobox 6), and among its related pathways are DREAM Repression and Dynorphin Expression and Wnt / Hedgehog / Notch. Affiliated tissues include heart, and related mouse phenotypes are craniofacial and liver/biliary system.

Description from OMIM:46 217095

Aliases & Classifications for Conotruncal Heart Malformations

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Conotruncal Heart Malformations, Aliases & Descriptions:

Name: Conotruncal Heart Malformations 42 22 46 62
Conotruncal Cardiac Defects 42
 
Cthm 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Conotruncal Heart Malformations

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Graphical network of diseases related to Conotruncal Heart Malformations:



Diseases related to conotruncal heart malformations

Symptoms for Conotruncal Heart Malformations

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Clinical features from OMIM:

217095

HPO human phenotypes related to Conotruncal Heart Malformations:

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

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 Heart Malformations22

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

32
Heart

Animal Models for Conotruncal Heart Malformations or affiliated genes

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MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9GDF1, NKX2-5, TBX1
2MP:00053708.3CFC1, GATA6, GDF1
3MP:00053878.2TBX1, NKX2-5, CFC1, GDF1
4MP:00028738.1TBX1, NKX2-5, NKX2-6, GDF1, GATA6
5MP:00053848.0TBX1, GATA6, NKX2-5, NKX2-6, GDF1
6MP:00053977.6TBX1, GDF1, CFC1, NKX2-5, GATA6
7MP:00053887.4NKX2-5, TBX1, GDF1, CFC1, GATA6, NKX2-6
8MP:00053807.4NKX2-5, GATA6, TBX1, NKX2-6, CFC1, GDF1
9MP:00053857.4GDF1, CFC1, NKX2-6, NKX2-5, TBX1, GATA6
10MP:00053787.3TBX1, CFC1, GDF1, GATA6, NKX2-6, NKX2-5
11MP:00107687.3GATA6, GDF1, CFC1, NKX2-6, NKX2-5, TBX1

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

Clinvar genetic disease variations for Conotruncal Heart Malformations:

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 Conotruncal Heart Malformations

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Expression patterns in normal tissues for genes affiliated with Conotruncal Heart Malformations

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Pathways for genes affiliated with Conotruncal Heart Malformations

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Compounds for genes affiliated with Conotruncal Heart Malformations

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GO Terms for genes affiliated with Conotruncal Heart Malformations

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Cellular components related to Conotruncal Heart Malformations according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.3GATA6, NKX2-5

Biological processes related to Conotruncal Heart Malformations according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:0550149.8NKX2-6, NKX2-5
2ventricular cardiac muscle cell developmentGO:0550159.8NKX2-5, NKX2-6
3embryonic heart tube developmentGO:0350509.8NKX2-5, NKX2-6
4positive regulation of cardioblast differentiationGO:0518919.6GATA6, NKX2-5
5thyroid gland developmentGO:0308789.5TBX1, NKX2-5
6heart morphogenesisGO:0030079.5TBX1, NKX2-5
7cardiac muscle cell differentiationGO:0550079.5NKX2-5, GATA6
8pharyngeal system developmentGO:0600379.3TBX1, NKX2-5, NKX2-6
9determination of left/right symmetryGO:0073689.1TBX1, CFC1
10outflow tract septum morphogenesisGO:0031489.1GATA6, TBX1, NKX2-5
11positive regulation of cell proliferationGO:0082849.0NKX2-6, NKX2-5, TBX1
12positive regulation of transcription from RNA polymerase II promoterGO:0459448.8GATA6, TBX1, NKX2-5
13negative regulation of apoptotic processGO:0430668.7GATA6, NKX2-5, NKX2-6

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.3GATA6, NKX2-5
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.0GATA6, NKX2-5
3sequence-specific DNA bindingGO:0435659.0NKX2-6, NKX2-5, TBX1
4sequence-specific DNA binding transcription factor activityGO:0037008.4GATA6, TBX1, NKX2-5, NKX2-6

Products for genes affiliated with Conotruncal Heart Malformations

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Sources for Conotruncal Heart Malformations

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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