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CTHM
MCID: CNT061
MIFTS: 63

Conotruncal Heart Malformations (CTHM)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Conotruncal Heart Malformations

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MalaCards integrated aliases for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 56 52 58 73 29 6 71
Persistent Truncus Arteriosus 56 74 52 73 36 6
Conotruncal Anomaly Face Syndrome 56 73 71
Common Arterial Trunk 58 73 32
Truncus Arteriosus 58 29 6
Cthm 56 52 73
Double-Outlet Right Ventricle 73 36
Truncus Arteriosus Communis 73 29
Dorv 58 73
Tac 58 73
Conotruncal Heart Malformations, Variable 56
Heart Malformations,conotruncal 39
Truncus Arteriosus, Persistent 43
Double Outlet Right Ventricle 58
Common Aorticopulmonary Trunk 58
Conotruncal Cardiac Defects 52
Conotruncal Heart Defects 73
Cafs 73
Cthd 73
Pta 73

Characteristics:

Orphanet epidemiological data:

58
truncus arteriosus
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal;
double outlet right ventricle
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000 (Germany); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

31
conotruncal heart malformations:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 217095
ICD10 32 Q20.0
MESH via Orphanet 44 D004310
ICD10 via Orphanet 33 Q20.0 Q20.1
UMLS via Orphanet 72 C0013069 C0041207 C1857586
UMLS 71 C0795907 C1857586
Sources

Summaries for Conotruncal Heart Malformations

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2445 Definition A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). Visit the Orphanet disease page for more resources.

MalaCards based summary : Conotruncal Heart Malformations, also known as persistent truncus arteriosus, is related to diaphragmatic hernia, congenital and tricuspid atresia. An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 Homeobox 6), and among its related pathways/superpathways is Heart Development. The drugs Simendan and Phosphodiesterase 3 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Heart, and related phenotypes are tetralogy of fallot and transposition of the great arteries

KEGG : 36 Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.

UniProtKB/Swiss-Prot : 73 Conotruncal heart malformations: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.

Wikipedia : 74 Persistent truncus arteriosus (PTA) is a rare form of congenital heart disease that presents at birth.... more...

More information from OMIM: 217095
Sources

Related Diseases for Conotruncal Heart Malformations

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

(show top 50) (show all 595)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.0 ZFPM2 GATA6
2 tricuspid atresia 29.8 ZFPM2 NKX2-5 GATA6
3 right atrial isomerism 29.8 NKX2-5 GDF1
4 heart septal defect 29.7 ZFPM2 TBX1 NKX2-5 GATA6
5 hypoparathyroidism 29.7 ZFPM2 TBX1
6 dextro-looped transposition of the great arteries 29.6 NKX2-5 GDF1
7 patent foramen ovale 29.6 TBX1 NKX2-5 GATA6
8 patent ductus arteriosus 1 29.4 TBX1 NKX2-5 GATA6
9 digeorge syndrome 29.3 TBX1 NKX2-6 NKX2-5
10 hypoplastic left heart syndrome 29.2 ZFPM2 TBX1 NKX2-5 GATA6
11 aortic valve disease 1 29.1 TBX1 NKX2-5 GATA6
12 ventricular septal defect 29.0 ZFPM2 NKX2-6 NKX2-5 GDF1 GATA6
13 atrial heart septal defect 29.0 ZFPM2 TBX1 NKX2-5 GATA6
14 charge syndrome 29.0 TBX1 NKX2-5
15 atrioventricular septal defect 29.0 ZFPM2 TBX1 NKX2-5 GDF1 GATA6
16 holt-oram syndrome 28.9 TBX1 NKX2-6 NKX2-5 GATA6
17 tetralogy of fallot 28.1 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1 GATA6
18 double outlet right ventricle 27.7 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1 GATA6
19 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 13.0
20 double outlet right ventricle with subaortic or doubly committed ventricular septal defect 12.9
21 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.9
22 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.7
23 sacral meningocele conotruncal heart defects 12.6
24 beemer lethal malformation syndrome 12.0
25 factor xi deficiency 11.9
26 velocardiofacial syndrome 11.9
27 microphthalmia microtia fetal akinesia 11.8
28 genitopalatocardiac syndrome 11.8
29 spondylocostal dysostosis 5 11.7
30 ritscher-schinzel syndrome 1 11.7
31 congenital heart defects, multiple types, 6 11.7
32 aortopulmonary window 11.6
33 cluster headache 11.6
34 congenital heart defects, multiple types, 4 11.6
35 cardiac, facial, and digital anomalies with developmental delay 11.6
36 vertebral anomalies and variable endocrine and t-cell dysfunction 11.6
37 critical congenital heart disease 11.6
38 sunct headache 11.4
39 takayasu arteritis 11.4
40 cleft-limb-heart malformation syndrome 11.4
41 heart defects, congenital, and other congenital anomalies 11.4
42 structural heart defects and renal anomalies syndrome 11.4
43 isotretinoin embryopathy-like syndrome 11.3
44 emanuel syndrome 11.3
45 dextrocardia 10.7
46 pulmonic stenosis 10.7
47 subvalvular aortic stenosis 10.7
48 complete atrioventricular canal 10.7
49 aortic arch interruption 10.7
50 situs inversus 10.6

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



Diseases related to Conotruncal Heart Malformations
Sources

Symptoms & Phenotypes for Conotruncal Heart Malformations

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Human phenotypes related to Conotruncal Heart Malformations:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tetralogy of fallot 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001636
2 transposition of the great arteries 58 31 hallmark (90%) Very frequent (99-80%) HP:0001669
3 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
4 pulmonary artery atresia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0004935
5 abnormal aortic arch morphology 31 frequent (33%) HP:0012303
6 hypertelorism 58 31 occasional (7.5%) Frequent (79-30%) HP:0000316
7 coarctation of aorta 58 31 Occasional (29-5%) HP:0001680
8 truncus arteriosus 58 31 Occasional (29-5%) HP:0001660
9 double outlet right ventricle 58 31 Obligate (100%) HP:0001719
10 depressed nasal bridge 58 Frequent (79-30%)
11 short stature 58 Frequent (79-30%)
12 failure to thrive 58 Frequent (79-30%)
13 intellectual disability, mild 58 Frequent (79-30%)
14 abnormality of metabolism/homeostasis 31 HP:0001939
15 feeding difficulties 58 Frequent (79-30%)
16 cleft palate 58 Frequent (79-30%)
17 narrow mouth 58 Frequent (79-30%)
18 hypoplastic left heart 58 Frequent (79-30%)
19 aplasia/hypoplasia of the thymus 58 Occasional (29-5%)
20 hypoparathyroidism 58 Occasional (29-5%)
21 ventricular septal defect 58 Frequent (79-30%)
22 intestinal malrotation 58 Occasional (29-5%)
23 hypocalcemia 58 Occasional (29-5%)
24 abnormality of the aortic arch 58 Frequent (79-30%)
25 pulmonic stenosis 58 Frequent (79-30%)
26 abnormality of the pulmonary artery 58 Frequent (79-30%)
27 abnormal aortic morphology 58 Frequent (79-30%)
28 tachycardia 58 Frequent (79-30%)
29 submucous cleft hard palate 58 Frequent (79-30%)
30 tachypnea 58 Frequent (79-30%)
31 cyanosis 58 Very frequent (99-80%)
32 narrow palpebral fissure 58 Frequent (79-30%)
33 heart murmur 58 Frequent (79-30%)
34 broad hallux 31 HP:0010055
35 postaxial polydactyly 31 HP:0100259
36 heterotaxy 58 Occasional (29-5%)
37 abnormality of cartilage of external ear 58 Frequent (79-30%)
38 complete atrioventricular canal defect 31 HP:0001674

Clinical features from OMIM:

217095

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
2 cellular MP:0005384 10.02 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
3 embryo MP:0005380 9.88 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
4 growth/size/body region MP:0005378 9.8 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
5 mortality/aging MP:0010768 9.8 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
6 endocrine/exocrine gland MP:0005379 9.77 GDF1 NKX2-5 PLXND1 TBX1 ZFPM2
7 craniofacial MP:0005382 9.76 GDF1 NKX2-5 PLXND1 TBX1
8 digestive/alimentary MP:0005381 9.73 GDF1 NKX2-5 PLXND1 TBX1
9 muscle MP:0005369 9.55 GATA6 NKX2-5 PLXND1 TBX1 ZFPM2
10 normal MP:0002873 9.5 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
11 respiratory system MP:0005388 9.1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
Sources

Drugs & Therapeutics for Conotruncal Heart Malformations

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Drugs for Conotruncal Heart Malformations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simendan Investigational Phase 3 131741-08-7
2 Phosphodiesterase 3 Inhibitors Phase 3
3 Cardiotonic Agents Phase 3
4 Phosphodiesterase Inhibitors Phase 3
5 Vasodilator Agents Phase 3
6 Protective Agents Phase 3
7
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
8
Nintedanib Approved Phase 2 656247-17-5 56843413
9
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
10
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
11 Antineoplastic Agents, Immunological Phase 1, Phase 2
12 Antimetabolites Phase 2
13 Interleukin-12 Phase 1
14 Mitogens Phase 1
15
leucovorin Approved 58-05-9 6006 143
16
Methylcobalamin Approved, Investigational 13422-55-4
17
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
18
Sodium citrate Approved, Investigational 68-04-2
19
Parathyroid hormone Approved, Investigational 9002-64-6
20
Milrinone Approved 78415-72-2 4197
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Racepinephrine Approved 329-65-7 838
23
Dobutamine Approved 34368-04-2 36811
24
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
25
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
26
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
27
Cobalamin Experimental 13408-78-1 6857388
28 Vitamin B Complex
29 Vitamin B 12
30 Folate
31 Vitamin B12
32 Vitamin B9
33 Citrate
34 Chelating Agents
35 Calcium, Dietary
36 Anticoagulants
37 Hormones
38 Nutrients
39 Adrenergic alpha-Agonists
40 Adrenergic beta-Agonists
41 Respiratory System Agents
42 Vasoconstrictor Agents
43 Adrenergic Agents
44 Epinephryl borate
45 Platelet Aggregation Inhibitors
46 Adrenergic Agonists
47 Sympathomimetics
48 Neurotransmitter Agents
49 Anti-Asthmatic Agents
50 Bronchodilator Agents

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Comparison of Fibrinogen Concentrate and Cryoprecipitate in Pediatric Cardiac Surgery Patients Not yet recruiting NCT04376762 Phase 4 Fibrinogen;Cryoprecipitate
2 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Active, not recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
3 A Phase I/IIA Study to Assess Safety, Tolerability and Preliminary Activity of the Combination of FAK (Defactinib) and PD-1 (Pembrolizumab) Inhibition in Patients With Advanced Solid Malignancies (FAK-PD1) Recruiting NCT02758587 Phase 1, Phase 2 Defactinib;Pembrolizumab
4 A Phase I/II Study of Nintedanib and Capecitabine in Refractory Metastatic Colorectal Cancer Active, not recruiting NCT02393755 Phase 2 Capecitabine;Nintedanib
5 Clinical Trial Study of Interventional Therapy Sequential With the Fourth-generation CAR-T Cells (IL7 and CCL19 or / and IL12) Targeting Nectin4/FAP in the Treatment of Advanced Malignant Solid Tumors With Nectin4-positive Recruiting NCT03932565 Phase 1
6 A Phase 1 Cohort Dose-Escalation Trial of AVID200, a Transforming Growth Factor β (TGFβ) Inhibitor, in Patients With Advanced or Metastatic Solid Tumor Malignancies Active, not recruiting NCT03834662 Phase 1 AVID200
7 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
8 Incision Type for Lateral Internal Sphincterotomy Unknown status NCT00980369
9 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
10 Pulmonic SAPIEN XTâ„¢ THV A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Completed NCT02302131
11 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442
12 Conotruncal Cardiac Defects and Metabolism, Nutrigenetic Factors of Etiopathogeny of Conotruncal Cardiac Defects Completed NCT01460316
13 TEE-guided Perventricular Device Closure Through Minithoracotomy vs Traditional Surgery Repair Via CBP in Treatment of Infundibular Ventricular Septal Defect：A Two-center Clinical Randomized Controlled Trial Completed NCT02361008
14 Computer Modeling of Congenital Heart Disease Completed NCT00366847
15 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
16 Gene and Nutrient Etiologies of Human Heart Defects Completed NCT00368732
17 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
18 Oxygen Saturation and Perfusion Index Screening ın Neonates at High Altitude Completed NCT04290481
19 Does the Choice of Perioperative Inotropes Has Influence on the Morbidity and Mortality of Infants Operated for Complex Heart Defects? Completed NCT04380181 dobu
20 Kaohsiung Medical University Chung-Ho Memorial Hospital Completed NCT02587793
21 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Completed NCT04029064
22 The Impact of Lung Cancer-derived Fibroblasts on Mast Cells Activation Completed NCT02161523
23 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
24 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
25 COngenital Multicenter Trial of Pulmonic vAlve Dysfunction Studying the SAPIEN 3 interventIONal THV Recruiting NCT02744677
26 Role of the Peritoneal Microenvironment in the Pathogenesis and Spread of Colorectal Carcinomatosis Recruiting NCT03777943
27 Monitor Faecal Calprotectin Concentration in Infants With Heart Defects Recruiting NCT03255564
28 Pulmonic SAPIEN S3â„¢ THV Registry A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Active, not recruiting NCT02777892
29 Prospective, Non-randomised, Open Label Clinical Study to Assess the Safety of the Bioabsorbable Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract (RVOT) Reconstruction Active, not recruiting NCT02700100
30 New Designed ePTFE Valved Conduits for Surgical Reconstruction of Right-ventricular Outflow Tract: A Multi-centre Clinical Research Not yet recruiting NCT04152967
31 Characterization of Fibrotic Focus as a Prognostic Marker in Breast Cancer Not yet recruiting NCT04122131
32 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163
33 Percutaneous Interventions in Adults With Complex Cyanotic Congenital Heart Disease Terminated NCT00266916
34 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Conotruncal Heart Malformations

Cochrane evidence based reviews: truncus arteriosus, persistent

Sources

Genetic Tests for Conotruncal Heart Malformations

About this section

Genetic tests related to Conotruncal Heart Malformations:

# Genetic test Affiliating Genes
1 Conotruncal Heart Malformations 29 GATA6 NKX2-5 NKX2-6 TBX1
2 Truncus Arteriosus 29
3 Truncus Arteriosus Communis 29
Sources

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

40
Heart, Thymus, Liver, Lung, Breast, T Cells, Smooth Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Conotruncal Heart Malformations:
# Tissue Anatomical CompartmentCell Relevance
1 Heart Aorticopulmonary Septum Affected by disease
2 Heart Outflow Tract Cushion Affected by disease
3 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Affected by disease, potential therapeutic candidate
4 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells Affected by disease, potential therapeutic candidate
5 Heart Outflow Tract Neural Crest Outflow Tract Cells Affected by disease, potential therapeutic candidate
Sources

Publications for Conotruncal Heart Malformations

About this section

Articles related to Conotruncal Heart Malformations:

(show top 50) (show all 397)
# Title Authors PMID Year
1
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 61 56 6
19666519 2009
2
Common arterial trunk associated with a homeodomain mutation of NKX2.6. 61 56 6
15649947 2005
3
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. 56 6
24421281 2014
4
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 6 56
21919901 2012
5
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6 56
20807224 2011
6
NKX2.5 mutations in patients with congenital heart disease. 56 6
14607454 2003
7
A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs. 56 61
8430699 1993
8
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 6
24702427 2015
9
Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene. 56
24254849 2013
10
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6
20456451 2010
11
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
12
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 6
17924340 2007
13
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. 6
17568391 2007
14
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
15
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 6
14517948 2003
16
Role of TBX1 in human del22q11.2 syndrome. 56
14585638 2003
17
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
18
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
19
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999
20
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. 56
10417299 1999
21
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. 56
9737780 1998
22
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. 56
8839734 1996
23
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. 56
8566942 1996
24
Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. 56
8582397 1995
25
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. 56
7856665 1994
26
Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. 56
8042678 1994
27
Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations. 56
2194395 1990
28
[Truncus arteriosus: an autosomal recessive disease?]. 56
2625625 1989
29
Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. 56
3341225 1988
30
Contrast enhanced computed tomography findings of persistent truncus arteriosus; A rare congenital heart disease. 61
32346456 2020
31
Surgical repair for persistent truncus arteriosus in neonates and older children. 61
32393289 2020
32
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. 61
31625560 2020
33
Reprogramming Axial Level Identity to Rescue Neural-Crest-Related Congenital Heart Defects. 61
32369742 2020
34
Conditional inactivation of Foxc1 and Foxc2 in neural crest cells leads to cardiac abnormalities. 61
32259372 2020
35
Is two-staged repair for truncus arteriosus type A3 unpractical? 61
32115762 2020
36
Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development. 61
31758944 2020
37
Partially Penetrant Cardiac Neural Crest Defects in Hand1 Phosphomutant Mice: Dimer Choice That Is Not So Critical. 61
31338559 2019
38
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. 61
31301121 2019
39
Successful Truncal Valve Replacement After Truncal Valve Repairs. 61
31152185 2019
40
Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development. 61
31120883 2019
41
Persistent truncus arteriosus with absent semilunar valve in first trimester. 61
30637595 2019
42
Challenges with Managing Delayed Presentation of Persistent Truncus Arteriosus with Torrential Pulmonary Blood Flow in a Resource-Limited Setting. 61
31392125 2019
43
Anomalous origin of left vertebral artery from ascending aorta associated with interrupted aortic arch and persistent truncus arteriosus. 61
30714544 2019
44
Foxc2 is required for proper cardiac neural crest cell migration, outflow tract septation, and ventricle expansion. 61
30376688 2018
45
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. 61
29509905 2018
46
Outcomes of Right Ventricular Outflow Tract Reconstruction for Children with Persistent Truncus Arteriosus: A 10-Year Single-Center Experience. 61
29255914 2018
47
Mutations in Hnrnpa1 cause congenital heart defects. 61
29367466 2018
48
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects. 61
29101065 2018
49
Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy. 61
28814167 2017
50
Landmark lecture: Perloff lecture: Tribute to Professor Joseph Kayle Perloff and lessons learned from him: aortopathy in adults with CHD. 61
29286269 2017
Sources

Variations for Conotruncal Heart Malformations

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ClinVar genetic disease variations for Conotruncal Heart Malformations:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-6 NM_001136271.2(NKX2-6):c.451T>C (p.Phe151Leu)SNV Pathogenic 791 rs267606914 8:23560419-23560419 8:23702906-23702906
2 GATA6 NM_005257.5(GATA6):c.1455_1456AG[1] (p.Glu486fs)short repeat Pathogenic 30206 18:19762744-19762745 18:22182783-22182784
3 GATA6 NM_005257.5(GATA6):c.1396A>C (p.Asn466His)SNV Pathogenic 30207 rs387906813 18:19761507-19761507 18:22181546-22181546
4 ZFPM2 NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)SNV Pathogenic 39517 rs397514520 8:106801094-106801094 8:105788866-105788866
5 ZFPM2 NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu)SNV Pathogenic 39519 rs397514521 8:106814519-106814519 8:105802291-105802291
6 GDF1 NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)SNV Pathogenic 6748 rs121434423 19:18979725-18979725 19:18868916-18868916
7 NKX2-6 NM_001136271.2(NKX2-6):c.453_454insT (p.Lys152Ter)insertion Likely pathogenic 133345 rs587777422 8:23560416-23560417 8:23702903-23702904
8 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)SNV Conflicting interpretations of pathogenicity 9008 rs28936670 5:172662014-172662014 5:173235011-173235011
9 TBX1 NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp)SNV Conflicting interpretations of pathogenicity 518715 rs781731042 22:19753951-19753951 22:19766428-19766428
10 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)SNV Uncertain significance 523483 rs1553371013 2:16086050-16086050 2:15945928-15945928
11 NKX2-6 NM_001136271.2(NKX2-6):c.826G>T (p.Ala276Ser)SNV Uncertain significance 534673 rs959054178 8:23560044-23560044 8:23702531-23702531
12 NKX2-6 NM_001136271.2(NKX2-6):c.745G>A (p.Gly249Arg)SNV Uncertain significance 534672 rs752427485 8:23560125-23560125 8:23702612-23702612
13 NKX2-6 NM_001136271.2(NKX2-6):c.673C>T (p.Pro225Ser)SNV Uncertain significance 849923 8:23560197-23560197 8:23702684-23702684
14 NKX2-6 NM_001136271.2(NKX2-6):c.649G>T (p.Gly217Cys)SNV Uncertain significance 849922 8:23560221-23560221 8:23702708-23702708
15 NKX2-6 NM_001136271.2(NKX2-6):c.434T>C (p.Leu145Pro)SNV Uncertain significance 864172 8:23560436-23560436 8:23702923-23702923
16 NKX2-5 NM_004387.4(NKX2-5):c.865_867AAC[2] (p.Asn291del)short repeat Uncertain significance 410969 rs756974215 5:172659674-172659676 5:173232671-173232673
17 NKX2-6 NM_001136271.2(NKX2-6):c.274C>A (p.Gln92Lys)SNV Uncertain significance 423840 rs530501230 8:23563838-23563838 8:23706325-23706325
18 NKX2-6 NM_001136271.2(NKX2-6):c.340_348dup (p.Asn114_Gly116dup)duplication Uncertain significance 466316 rs780012501 8:23560521-23560522 8:23703008-23703009
19 NKX2-6 NM_001136271.2(NKX2-6):c.121T>A (p.Phe41Ile)SNV Uncertain significance 466312 rs576577900 8:23563991-23563991 8:23706478-23706478
20 GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro)SNV Uncertain significance 540134 rs1253034411 18:19751338-19751338 18:22171377-22171377
21 GATA6 NM_005257.5(GATA6):c.839G>C (p.Gly280Ala)SNV Uncertain significance 540131 rs904519303 18:19751944-19751944 18:22171983-22171983
22 NKX2-6 NM_001136271.2(NKX2-6):c.464G>T (p.Arg155Leu)SNV Uncertain significance 570512 rs534202593 8:23560406-23560406 8:23702893-23702893
23 NKX2-6 NM_001136271.2(NKX2-6):c.686C>T (p.Ala229Val)SNV Uncertain significance 573392 rs1563303655 8:23560184-23560184 8:23702671-23702671
24 TBX1 NM_080647.1(TBX1):c.324C>T (p.Ala108=)SNV Uncertain significance 626178 rs757290764 22:19748717-19748717 22:19761194-19761194
25 NKX2-6 NM_001136271.2(NKX2-6):c.895A>G (p.Arg299Gly)SNV Uncertain significance 653156 8:23559975-23559975 8:23702462-23702462
26 NKX2-6 NM_001136271.2(NKX2-6):c.150G>T (p.Pro50=)SNV Likely benign 696313 8:23563962-23563962 8:23706449-23706449
27 NKX2-6 NM_001136271.2(NKX2-6):c.468C>T (p.Tyr156=)SNV Likely benign 701675 8:23560402-23560402 8:23702889-23702889
28 NKX2-6 NM_001136271.2(NKX2-6):c.29C>G (p.Pro10Arg)SNV Likely benign 466315 rs747477274 8:23564083-23564083 8:23706570-23706570
29 NKX2-6 NM_001136271.2(NKX2-6):c.359G>C (p.Arg120Pro)SNV Likely benign 466317 rs61743032 8:23560511-23560511 8:23702998-23702998
30 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)SNV Likely benign 6128 rs121908601 8:106431420-106431420 8:105419192-105419192
31 NKX2-6 NM_001136271.2(NKX2-6):c.276G>A (p.Gln92=)SNV Likely benign 534674 rs768775204 8:23560594-23560594 8:23703081-23703081
32 NKX2-6 NM_001136271.2(NKX2-6):c.867C>T (p.Gly289=)SNV Likely benign 534675 rs1554510734 8:23560003-23560003 8:23702490-23702490
33 NKX2-6 NM_001136271.2(NKX2-6):c.180C>T (p.Gly60=)SNV Likely benign 466313 rs1356335573 8:23563932-23563932 8:23706419-23706419
34 GATA6 NM_005257.5(GATA6):c.969_971CCA[9] (p.His333del)short repeat Benign 129132 rs562588574 18:19752073-19752075 18:22172112-22172114
35 ZFPM2 NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)SNV Benign 6130 rs121908603 8:106814417-106814417 8:105802189-105802189
36 NKX2-6 NM_001136271.2(NKX2-6):c.786C>G (p.Gly262=)SNV Benign 466319 rs61749320 8:23560084-23560084 8:23702571-23702571
37 NKX2-6 NM_001136271.2(NKX2-6):c.386C>A (p.Ala129Glu)SNV Benign 466318 rs143039156 8:23560484-23560484 8:23702971-23702971
38 NKX2-6 NM_001136271.2(NKX2-6):c.183C>T (p.Gly61=)SNV Benign 466314 rs139466287 8:23563929-23563929 8:23706416-23706416

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

73
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Asn466His VAR_067388 rs387906813
2 GDF1 p.Cys267Tyr VAR_065335 rs121434423
3 NKX2-6 p.Phe151Leu VAR_063278 rs267606914
4 NKX2-6 p.Lys152Gln VAR_073164
5 NKX2-6 p.Val176Ala VAR_073165
6 TBX1 p.Phe148Tyr VAR_035025 rs28939675
7 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
8 ZFPM2 p.Ile227Val VAR_072074 rs202204708

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Expression for Conotruncal Heart Malformations

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

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

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.46 TBX1 NKX2-5 GATA6
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GO Terms for Conotruncal Heart Malformations

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Cellular components related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.89 TBX1 PLXND1 NKX2-6 NKX2-5
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 ZFPM2 TBX1 NKX2-5 GATA6
4 positive regulation of transcription, DNA-templated GO:0045893 9.81 ZFPM2 TBX1 NKX2-5 GATA6
5 negative regulation of transcription, DNA-templated GO:0045892 9.8 ZFPM2 NKX2-5 GATA6
6 positive regulation of cell proliferation GO:0008284 9.79 TBX1 NKX2-6 NKX2-5
7 negative regulation of apoptotic process GO:0043066 9.79 NKX2-6 NKX2-5 GATA6
8 heart development GO:0007507 9.67 ZFPM2 TBX1 NKX2-6 NKX2-5
9 epithelial cell differentiation GO:0030855 9.61 TBX1 GATA6
10 heart looping GO:0001947 9.6 TBX1 NKX2-5
11 vasculogenesis GO:0001570 9.58 ZFPM2 NKX2-5
12 heart morphogenesis GO:0003007 9.58 TBX1 NKX2-5
13 outflow tract morphogenesis GO:0003151 9.58 TBX1 PLXND1 NKX2-5
14 ventricular septum morphogenesis GO:0060412 9.57 ZFPM2 NKX2-5
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 ZFPM2 GATA6
16 cardiac muscle cell differentiation GO:0055007 9.54 NKX2-5 GATA6
17 thyroid gland development GO:0030878 9.52 TBX1 NKX2-5
18 embryonic heart tube development GO:0035050 9.49 NKX2-6 NKX2-5
19 ventricular cardiac muscle cell development GO:0055015 9.46 NKX2-6 NKX2-5
20 positive regulation of cardioblast differentiation GO:0051891 9.43 NKX2-5 GATA6
21 cardiac muscle tissue development GO:0048738 9.33 ZFPM2 NKX2-5 GATA6
22 atrial cardiac muscle cell development GO:0055014 9.32 NKX2-6 NKX2-5
23 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.26 ZFPM2 NKX2-5
24 pharyngeal system development GO:0060037 9.13 TBX1 NKX2-6 NKX2-5
25 outflow tract septum morphogenesis GO:0003148 8.92 ZFPM2 TBX1 NKX2-5 GATA6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 TBX1 NKX2-6 NKX2-5
3 transcription factor binding GO:0008134 9.5 ZFPM2 NKX2-5 GATA6
4 DNA-binding transcription factor activity GO:0003700 9.46 TBX1 NKX2-6 NKX2-5 GATA6
5 sequence-specific DNA binding GO:0043565 9.26 TBX1 NKX2-6 NKX2-5 GATA6
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
Sources

Sources for Conotruncal Heart Malformations

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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