CTHM
MCID: CNT061
MIFTS: 65

Conotruncal Heart Malformations (CTHM)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Conotruncal Heart Malformations

MalaCards integrated aliases for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 57 19 58 73 28 5 71
Conotruncal Anomaly Face Syndrome 57 73 28 12 5 71
Persistent Truncus Arteriosus 57 19 75 73 5 33
Common Arterial Trunk 58 73 31 33
Truncus Arteriosus 58 28 5 33
Cthm 57 19 73
Conotruncal Heart Malformations, Variable 57 28
Truncus Arteriosus Communis 73 33
Tac 58 73
Truncus Arteriosus with Pulmonary Dominance and Interrupted Aortic Arch 33
Common Arterial Trunk with Interrupted Aortic Arch 33
Truncus Arteriosus with Interrupted Aortic Arch 33
Truncus Arteriosus with No Aortic Obstruction 33
Persistent Truncus Arteriosus or Communis 33
Truncus Arteriosus with Aortic Dominance 33
Van Praagh Truncus Arteriosus Type A4 33
Heart Malformations, Conotruncal 38
Common Aortico-Pulmonary Trunk 33
Common Aorticopulmonary Trunk 58
Double-Outlet Right Ventricle 73
Conotruncal Cardiac Defects 19
Conotruncal Heart Defects 73
Common Truncus Arteriosus 33
Truncus Communis 33
Common Truncus 33
Dorv 73
Cafs 73
Cthd 73
Pta 73

Characteristics:


Inheritance:

Truncus Arteriosus: Autosomal recessive 58

Prevelance:

Truncus Arteriosus: 1-9/100000 (Worldwide, Europe, Belgium, France, Germany, Hungary, Ireland, Italy, Netherlands, Norway, Poland, Spain, United Kingdom, Ukraine) 1-5/10000 (Switzerland) 58

Age Of Onset:

Truncus Arteriosus: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Conotruncal Heart Malformations

GARD: 19 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).

MalaCards based summary: Conotruncal Heart Malformations, also known as conotruncal anomaly face syndrome, is related to velocardiofacial syndrome and heart septal defect. 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 Atezolizumab and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include Heart, and related phenotypes are truncus arteriosus and abnormal heart valve morphology

Orphanet 58 Conotruncal heart malformations: 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).

Truncus arteriosus: Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.

UniProtKB/Swiss-Prot: 73 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: 75 Persistent truncus arteriosus (PTA), often referred to simply as truncus arteriosus, is a rare form of... more...

More information from OMIM: 217095

Related Diseases for Conotruncal Heart Malformations

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

(show top 50) (show all 747)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 31.8 TBX1 NKX2-5
2 heart septal defect 30.2 ZFPM2 TBX1 NKX2-5 GATA6
3 patau syndrome 30.1 TBX1 NKX2-5
4 patent foramen ovale 30.0 TBX1 NKX2-5 GATA6
5 right atrial isomerism 29.9 NKX2-5 GDF1
6 holt-oram syndrome 29.9 TBX1 NKX2-5
7 kabuki syndrome 1 29.8 TBX1 NKX2-5
8 tricuspid atresia 29.7 ZFPM2 TBX1 NKX2-5 GATA6
9 ventricular septal defect 29.7 ZFPM2 TBX1 NKX2-5 GDF1 GATA6
10 diaphragmatic hernia, congenital 29.7 ZFPM2 GATA6
11 aortic valve disease 1 29.6 TBX1 NKX2-5 GATA6
12 transposition of the great arteries, dextro-looped 29.6 TBX1 NKX2-6 NKX2-5 GDF1
13 ebstein anomaly 29.5 ZFPM2 NKX2-5
14 atrial heart septal defect 29.4 ZFPM2 TBX1 NKX2-5 GATA6
15 atrioventricular septal defect 29.2 ZFPM2 TBX1 NKX2-5 GDF1 GATA6
16 patent ductus arteriosus 1 29.2 ZFPM2 TBX1 NKX2-5 GATA6
17 hypoplastic left heart syndrome 29.1 ZFPM2 TBX1 NKX2-5 GATA6
18 tetralogy of fallot 28.8 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1 GATA6
19 double outlet right ventricle 28.5 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1 GATA6
20 sacral meningocele conotruncal heart defects 11.8
21 factor xi deficiency 11.6
22 congenital heart defects, multiple types, 8, with or without heterotaxy 11.5
23 beemer lethal malformation syndrome 11.5
24 aortopulmonary window 11.4
25 congenital heart defects, multiple types, 4 11.4
26 cardiac, facial, and digital anomalies with developmental delay 11.4
27 vertebral anomalies and variable endocrine and t-cell dysfunction 11.4
28 kallmann syndrome-heart disease syndrome 11.4
29 straddling or overriding tricuspid valve 11.4
30 straddling and/or overriding mitral valve 11.4
31 traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 11.4
32 congenital unguarded mitral orifice 11.4
33 congenital supravalvular mitral ring 11.4
34 genitopalatocardiac syndrome 11.3
35 cleft-limb-heart malformation syndrome 11.3
36 microphthalmia microtia fetal akinesia 11.3
37 takayasu arteritis 11.2
38 structural heart defects and renal anomalies syndrome 11.2
39 pulmonary artery hypoplasia 11.2
40 hadziselimovic syndrome 11.2
41 emanuel syndrome 11.2
42 isotretinoin syndrome 11.2
43 heart defects, congenital, and other congenital anomalies 11.2
44 critical congenital heart disease 11.2
45 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 11.1
46 congenital heart defects, multiple types, 6 11.0
47 double outlet right ventricle with subaortic or doubly committed ventricular septal defect 11.0
48 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 11.0
49 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 11.0
50 aortic arch interruption 10.6

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



Diseases related to Conotruncal Heart Malformations

Symptoms & Phenotypes for Conotruncal Heart Malformations

Human phenotypes related to Conotruncal Heart Malformations:

58 30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 truncus arteriosus 58 30 Obligate (100%) Obligate (100%)
HP:0001660
2 abnormal heart valve morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001654
3 tachycardia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001649
4 cyanosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000961
5 cardiomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001640
6 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
7 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001629
8 tachypnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002789
9 aortic regurgitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001659
10 right ventricular hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001667
11 right aortic arch 58 30 Frequent (33%) Frequent (79-30%)
HP:0012020
12 anomalous origin of one pulmonary artery from ascending aorta 58 30 Frequent (33%) Frequent (79-30%)
HP:0011660
13 abnormal facial shape 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001999
14 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
15 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
16 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
17 interrupted aortic arch 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011611
18 hypoplasia of the thymus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000778
19 pulmonic stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001642
20 pulmonary artery stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004415
21 abnormal lung lobation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002101
22 pulmonary hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002089
23 pulmonary artery atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004935
24 persistent left superior vena cava 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005301
25 pulmonary edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100598
26 aplasia/hypoplasia involving bones of the extremities 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045060
27 adrenocortical abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000849
28 single coronary artery origin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011640
29 arteria lusoria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031014
30 hypertelorism 30 Occasional (7.5%) HP:0000316
31 transposition of the great arteries 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001669
32 pulmonary artery hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004971
33 anomalous origin of the left common carotid artery from the brachiocephalic artery 58 30 Very rare (1%) Very rare (<4-1%)
HP:0031635
34 coarctation of aorta 30 HP:0001680
35 abnormality of metabolism/homeostasis 30 HP:0001939
36 abnormal heart morphology 58 Very frequent (99-80%)
37 double outlet right ventricle 30 HP:0001719
38 broad hallux 30 HP:0010055
39 postaxial polydactyly 30 HP:0100259
40 abnormal coronary artery morphology 58 Occasional (29-5%)
41 complete atrioventricular canal defect 30 HP:0001674
42 abnormal heart valve physiology 58 Very frequent (99-80%)
43 abnormal superior vena cava morphology 58 Occasional (29-5%)

Clinical features from OMIM®:

217095 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
2 embryo MP:0005380 9.85 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
3 muscle MP:0005369 9.83 GATA6 NKX2-5 PLXND1 TBX1 ZFPM2
4 endocrine/exocrine gland MP:0005379 9.8 GDF1 NKX2-5 PLXND1 TBX1 ZFPM2
5 cellular MP:0005384 9.8 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
6 cardiovascular system MP:0005385 9.7 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
7 craniofacial MP:0005382 9.62 GDF1 NKX2-5 PLXND1 TBX1
8 respiratory system MP:0005388 9.43 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
9 mortality/aging MP:0010768 9.17 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1

Drugs & Therapeutics for Conotruncal Heart Malformations

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
2
Pirfenidone Approved, Investigational Phase 1, Phase 2 53179-13-8 40632
3 Radiopharmaceuticals Phase 2
4 FAPI-46 Phase 2
5 Analgesics Phase 1, Phase 2
6 Antirheumatic Agents Phase 1, Phase 2
7 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
8 Analgesics, Non-Narcotic Phase 1, Phase 2
9 Anti-Inflammatory Agents Phase 1, Phase 2
10
Levoleucovorin Approved, Experimental, Investigational 68538-85-2, 58-05-9, 73951-54-9 149436 6006
11
Mecobalamin Approved, Investigational 13422-55-4
12
Hydroxocobalamin Approved 13422-51-0 15589840 44475014
13
Parathyroid hormone Approved, Investigational 9002-64-6
14
Sodium citrate Approved, Investigational 68-04-2 23431961
15
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
16
Tannic acid Approved 1401-55-4 16129878 16129778
17
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
18
Cyanocobalamin Approved, Nutraceutical 68-19-9 24892734 16212801 44176380
19
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
20
Cobalamin Experimental 13408-78-1 6857388
21 Folate
22 Vitamin B9
23 Vitamin B12
24 Vitamin B Complex
25 Vitamin B 12
26 Hormones
27 Calcium, Dietary
28 Anticoagulants
29 Citrate
30 Chelating Agents
31 Anesthetics
32
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Prospective, Open-labeled, Single-arm Clinical Trial to Evaluate the Safety and Efficacy of the Second-generation Tissue Engineered Vascular Graft as Vascular Conduits for Extracardiac Total Cavopulmonary Connection. Recruiting NCT04467671 Phase 2
2 Quantitative In Vivo 68Ga-Fibroblast-Activation-Protein-Inhibitors (FAPI)-46 PET Imaging of Cancer-Associated Fibroblasts (CAFs) in Pancreatic Ductal Adenocarcinoma (PDA) Not yet recruiting NCT05518903 Phase 2 Gallium Ga 68 FAPi-46
3 CAFs (Combination of Atezolizumab and Pirfenidone in Second-line and Beyond NSCLC): a Phase I/II Study Not yet recruiting NCT04467723 Phase 1, Phase 2 Atezolizumab
4 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
5 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
6 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
7 Surgical Planning for Reconstruction of Complex Heart Defects Completed NCT00972608
8 Conotruncal Cardiac Defects and Metabolism, Nutrigenetic Factors of Etiopathogeny of Conotruncal Cardiac Defects Completed NCT01460316
9 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
10 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
11 MASA Valve Early Feasibility Study Not yet recruiting NCT05452720
12 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082

Search NIH Clinical Center for Conotruncal Heart Malformations

Genetic Tests for Conotruncal Heart Malformations

Genetic tests related to Conotruncal Heart Malformations:

# Genetic test Affiliating Genes
1 Conotruncal Anomaly Face Syndrome 28
2 Conotruncal Heart Malformations 28 GATA6 NKX2-5 NKX2-6 TBX1
3 Truncus Arteriosus 28
4 Conotruncal Heart Malformations, Variable 28

Anatomical Context for Conotruncal Heart Malformations

Organs/tissues related to Conotruncal Heart Malformations:

MalaCards : Heart, Lung, Thymus, Breast, Bone Marrow, Prostate, Lymph Node
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 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells Affected by disease, potential therapeutic candidate
4 Head Mesenchyme Branchial Arch 3,4,6 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

Publications for Conotruncal Heart Malformations

Articles related to Conotruncal Heart Malformations:

(show top 50) (show all 7105)
# Title Authors PMID Year
1
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. 62 57 5
24421281 2014
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 62 57 5
20807224 2011
3
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 62 57 5
19666519 2009
4
Common arterial trunk associated with a homeodomain mutation of NKX2.6. 62 57 5
15649947 2005
5
NKX2.5 mutations in patients with congenital heart disease. 62 57 5
14607454 2003
6
Role of TBX1 in human del22q11.2 syndrome. 62 57 5
14585638 2003
7
Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene. 62 57
24254849 2013
8
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 62 57
21919901 2012
9
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 62 5
10587520 1999
10
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. 62 57
9737780 1998
11
Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. 62 57
8582397 1995
12
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. 62 57
7856665 1994
13
A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs. 62 57
8430699 1993
14
[Truncus arteriosus: an autosomal recessive disease?]. 62 57
2625625 1989
15
Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. 62 57
3341225 1988
16
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 5
20456451 2010
17
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 5
19948535 2010
18
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 5
17273972 2007
19
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 5
16418214 2006
20
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. 5
15703190 2005
21
NKX2.5 mutations in patients with tetralogy of fallot. 5
11714651 2001
22
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 5
10903346 2000
23
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. 57
10417299 1999
24
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. 57
8839734 1996
25
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. 57
8566942 1996
26
Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. 57
8042678 1994
27
Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations. 57
2194395 1990
28
Biomimetic nanoparticles drive the mechanism understanding of shear-wave elasticity stiffness in triple negative breast cancers to predict clinical treatment. 62
36382024 2023
29
Biejiajian pill inhibits progression of hepatocellular carcinoma by downregulating PDGFRβ signaling in cancer-associated fibroblasts. 62
36240978 2023
30
FK866 inhibits colorectal cancer metastasis by reducing NAD+ levels in cancer-associated fibroblasts. 62
36214983 2022
31
Exosomal miR-625-3p secreted by cancer-associated fibroblasts in colorectal cancer promotes EMT and chemotherapeutic resistance by blocking the CELF2/WWOX pathway. 62
36336217 2022
32
Reprogramming of cancer-associated fibroblasts by apoptotic cancer cells inhibits lung metastasis via Notch1-WISP-1 signaling. 62
36241874 2022
33
Comparison of Pre- and Postnatally Diagnosed Coronary Artery Fistulae: Echocardiographic Features and Clinical Outcomes. 62
35940444 2022
34
CAFs-derived small extracellular vesicles circN4BP2L2 promotes proliferation and metastasis of colorectal cancer via miR-664b-3p/HMGB3 pathway. 62
35722996 2022
35
Periostin- and podoplanin-positive cancer-associated fibroblast subtypes cooperate to shape the inflamed tumor microenvironment in aggressive pancreatic adenocarcinoma. 62
36102377 2022
36
Fibroblast heterogeneity in pancreatic ductal adenocarcinoma: Perspectives in immunotherapy. 62
36096869 2022
37
YAP1-TEAD1 mediates the perineural invasion of prostate cancer cells induced by cancer-associated fibroblasts. 62
36100154 2022
38
Cancer-associated fibroblast-released extracellular vesicles carrying miR-199a-5p induces the progression of​ gastric cancer through regulation of FKBP5-mediated AKT1/mTORC1 signaling pathway. 62
36005478 2022
39
A multi-omics signature to predict the prognosis of invasive ductal carcinoma of the breast. 62
36395590 2022
40
Eribulin normalizes pancreatic cancer-associated fibroblasts by simulating selected features of TGFβ inhibition. 62
36461015 2022
41
Monocytes educated by cancer-associated fibroblasts secrete exosomal miR-181a to activate AKT signaling in breast cancer cells. 62
36463188 2022
42
Carcinoma-associated fibroblasts release microRNA-331-3p containing extracellular vesicles to exacerbate the development of pancreatic cancer via the SCARA5-FAK axis. 62
35510828 2022
43
Vocal fold fibroblasts promote angiogenesis in vocal fold leukoplakia by secreting pro-angiogenic factors. 62
35513993 2022
44
Targeting cancer-associated fibroblasts: Challenges, opportunities and future directions. 62
35718294 2022
45
A two-pronged strategy to alleviate tumor hypoxia and potentiate photodynamic therapy by mild hyperthermia. 62
36468355 2022
46
Postpartum left circumflex to left atrial fistula: A rare presentation. 62
36193278 2022
47
Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma. 62
36375776 2022
48
Diverse Transcatheter Closure Strategies in Coronary Artery Fistulas A State-of-the-Art Approach. 62
34599986 2022
49
Combined MEK and STAT3 Inhibition Uncovers Stromal Plasticity by Enriching for Cancer-Associated Fibroblasts With Mesenchymal Stem Cell-Like Features to Overcome Immunotherapy Resistance in Pancreatic Cancer. 62
35948109 2022
50
Tumor-derived IL-8 facilitates lymph node metastasis of gastric cancer via PD-1 up-regulation in CD8+ T cells. 62
35633411 2022

Variations for Conotruncal Heart Malformations

ClinVar genetic disease variations for Conotruncal Heart Malformations:

5 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA6 NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) MICROSAT Pathogenic
30206 rs1598737972 GRCh37: 18:19762744-19762745
GRCh38: 18:22182783-22182784
2 GATA6 NM_005257.6(GATA6):c.1396A>C (p.Asn466His) SNV Pathogenic
30207 rs387906813 GRCh37: 18:19761507-19761507
GRCh38: 18:22181546-22181546
3 NKX2-6 NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu) SNV Pathogenic
791 rs267606914 GRCh37: 8:23560419-23560419
GRCh38: 8:23702906-23702906
4 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Pathogenic
9008 rs28936670 GRCh37: 5:172662014-172662014
GRCh38: 5:173235011-173235011
5 TBX1 NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) SNV Pathogenic
7563 rs28939675 GRCh37: 22:19750796-19750796
GRCh38: 22:19763273-19763273
6 TBX1 NM_001379200.1(TBX1):c.1250del (p.Ser417fs) DEL Pathogenic
7565 rs1601294362 GRCh37: 22:19754125-19754125
GRCh38: 22:19766602-19766602
7 NKX2-6 NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) INSERT Likely Pathogenic
133345 rs587777422 GRCh37: 8:23560416-23560417
GRCh38: 8:23702903-23702904
8 NKX2-6 NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs) DUP Likely Pathogenic
1172828 GRCh37: 8:23560414-23560415
GRCh38: 8:23702901-23702902
9 NKX2-6 NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His) SNV Uncertain Significance
1368828 GRCh37: 8:23560226-23560226
GRCh38: 8:23702713-23702713
10 NKX2-6 NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu) SNV Uncertain Significance
1398180 GRCh37: 8:23560332-23560332
GRCh38: 8:23702819-23702819
11 NKX2-6 NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro) SNV Uncertain Significance
1513585 GRCh37: 8:23560277-23560277
GRCh38: 8:23702764-23702764
12 GATA6 NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) SNV Uncertain Significance
540131 rs904519303 GRCh37: 18:19751944-19751944
GRCh38: 18:22171983-22171983
13 TBX1 NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) SNV Uncertain Significance
934486 rs144848597 GRCh37: 22:19752592-19752592
GRCh38: 22:19765069-19765069
14 NKX2-6 NM_001136271.3(NKX2-6):c.274C>A (p.Gln92Lys) SNV Uncertain Significance
423840 rs530501230 GRCh37: 8:23563838-23563838
GRCh38: 8:23706325-23706325
15 NKX2-6 NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup) DUP Uncertain Significance
466316 rs780012501 GRCh37: 8:23560521-23560522
GRCh38: 8:23703008-23703009
16 NKX2-6 NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile) SNV Uncertain Significance
466312 rs576577900 GRCh37: 8:23563991-23563991
GRCh38: 8:23706478-23706478
17 NKX2-6 NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg) SNV Uncertain Significance
534672 rs752427485 GRCh37: 8:23560125-23560125
GRCh38: 8:23702612-23702612
18 NKX2-6 NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser) SNV Uncertain Significance
534673 rs959054178 GRCh37: 8:23560044-23560044
GRCh38: 8:23702531-23702531
19 NKX2-6 NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu) SNV Uncertain Significance
570512 rs534202593 GRCh37: 8:23560406-23560406
GRCh38: 8:23702893-23702893
20 NKX2-6 NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val) SNV Uncertain Significance
573392 rs1563303655 GRCh37: 8:23560184-23560184
GRCh38: 8:23702671-23702671
21 GATA6 NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) SNV Uncertain Significance
540134 rs1253034411 GRCh37: 18:19751338-19751338
GRCh38: 18:22171377-22171377
22 NKX2-6 NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly) SNV Uncertain Significance
653156 rs564297816 GRCh37: 8:23559975-23559975
GRCh38: 8:23702462-23702462
23 NKX2-6 NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys) SNV Uncertain Significance
849922 rs946224551 GRCh37: 8:23560221-23560221
GRCh38: 8:23702708-23702708
24 NKX2-6 NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser) SNV Uncertain Significance
849923 rs913645847 GRCh37: 8:23560197-23560197
GRCh38: 8:23702684-23702684
25 NKX2-6 NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro) SNV Uncertain Significance
864172 rs1369416257 GRCh37: 8:23560436-23560436
GRCh38: 8:23702923-23702923
26 NKX2-6 NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser) SNV Uncertain Significance
972419 rs774277973 GRCh37: 8:23563931-23563931
GRCh38: 8:23706418-23706418
27 TBX1 NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) SNV Uncertain Significance
992543 rs1452987245 GRCh37: 22:19753948-19753948
GRCh38: 22:19766425-19766425
28 NKX2-6 NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys) SNV Uncertain Significance
1001000 rs558299051 GRCh37: 8:23563941-23563941
GRCh38: 8:23706428-23706428
29 NKX2-6 NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His) SNV Uncertain Significance
1002887 rs1801027083 GRCh37: 8:23560327-23560327
GRCh38: 8:23702814-23702814
30 NKX2-6 NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser) SNV Uncertain Significance
1003022 rs1461236642 GRCh37: 8:23560392-23560392
GRCh38: 8:23702879-23702879
31 NKX2-6 NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln) SNV Uncertain Significance
1008180 rs1801092012 GRCh37: 8:23563944-23563944
GRCh38: 8:23706431-23706431
32 NKX2-6 NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser) SNV Uncertain Significance
1021570 rs941121273 GRCh37: 8:23560245-23560245
GRCh38: 8:23702732-23702732
33 TBX1 NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly) SNV Uncertain Significance
1034215 rs1936812731 GRCh37: 22:19753315-19753315
GRCh38: 22:19765792-19765792
34 NKX2-6 NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys) SNV Uncertain Significance
1041818 rs772831506 GRCh37: 8:23560506-23560506
GRCh38: 8:23702993-23702993
35 NKX2-6 NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro) SNV Uncertain Significance
1046880 rs1197285444 GRCh37: 8:23564062-23564062
GRCh38: 8:23706549-23706549
36 NKX2-6 NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu) SNV Uncertain Significance
1058355 GRCh37: 8:23564077-23564077
GRCh38: 8:23706564-23706564
37 TBX1 NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) INSERT Uncertain Significance
858922 rs1192078635 GRCh37: 22:19754023-19754024
GRCh38: 22:19766500-19766501
38 TBX1 NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) SNV Uncertain Significance
518715 rs781731042 GRCh37: 22:19753951-19753951
GRCh38: 22:19766428-19766428
39 TBX1 NM_001379200.1(TBX1):c.351C>T (p.Ala117=) SNV Uncertain Significance
626178 rs757290764 GRCh37: 22:19748717-19748717
GRCh38: 22:19761194-19761194
40 TBX1 NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn) SNV Uncertain Significance
1030988 rs1937156881 GRCh37: 22:19770537-19770537
GRCh38: 22:19783014-19783014
41 NKX2-6 NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val) SNV Uncertain Significance
1513612 GRCh37: 8:23560589-23560589
GRCh38: 8:23703076-23703076
42 NKX2-6 NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg) SNV Uncertain Significance
1382817 GRCh37: 8:23563987-23563987
GRCh38: 8:23706474-23706474
43 NKX2-6 NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro) SNV Uncertain Significance
1393632 GRCh37: 8:23560406-23560406
GRCh38: 8:23702893-23702893
44 NKX2-6 NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly) SNV Uncertain Significance
1439841 GRCh37: 8:23560503-23560503
GRCh38: 8:23702990-23702990
45 NKX2-6 NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser) SNV Likely Benign
1456828 GRCh37: 8:23560529-23560529
GRCh38: 8:23703016-23703016
46 NKX2-6 NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His) SNV Likely Benign
1311053 GRCh37: 8:23560502-23560502
GRCh38: 8:23702989-23702989
47 NKX2-6 NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro) SNV Likely Benign
466317 rs61743032 GRCh37: 8:23560511-23560511
GRCh38: 8:23702998-23702998
48 NKX2-6 NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=) SNV Likely Benign
466313 rs1356335573 GRCh37: 8:23563932-23563932
GRCh38: 8:23706419-23706419
49 NKX2-6 NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg) SNV Likely Benign
466315 rs747477274 GRCh37: 8:23564083-23564083
GRCh38: 8:23706570-23706570
50 NKX2-6 NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) SNV Likely Benign
534674 rs768775204 GRCh37: 8:23560594-23560594
GRCh38: 8:23703081-23703081

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

Expression for Conotruncal Heart Malformations

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

Pathways for Conotruncal Heart Malformations

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

# Super pathways Score Top Affiliating Genes
1 10.47 TBX1 NKX2-5 GATA6

GO Terms for Conotruncal Heart Malformations

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.32 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.29 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
2 regulation of transcription by RNA polymerase II GO:0006357 10.25 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
3 cell differentiation GO:0030154 10.18 ZFPM2 NKX2-6 NKX2-5 GATA6
4 positive regulation of DNA-templated transcription GO:0045893 10.17 ZFPM2 TBX1 NKX2-5 GATA6
5 positive regulation of epithelial cell proliferation GO:0050679 9.97 TBX1 NKX2-6 NKX2-5
6 epithelial cell proliferation GO:0050673 9.95 NKX2-6 NKX2-5
7 odontogenesis of dentin-containing tooth GO:0042475 9.94 TBX1 GATA6
8 heart morphogenesis GO:0003007 9.93 TBX1 NKX2-5
9 ventricular septum morphogenesis GO:0060412 9.92 NKX2-5 ZFPM2
10 cell population proliferation GO:0008283 9.92 TBX1 NKX2-6 NKX2-5
11 thyroid gland development GO:0030878 9.91 TBX1 NKX2-5
12 heart development GO:0007507 9.91 ZFPM2 TBX1 NKX2-6 NKX2-5
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.9 ZFPM2 GATA6
14 cardiac muscle cell proliferation GO:0060038 9.88 NKX2-5 GATA6
15 cardiac muscle cell differentiation GO:0055007 9.88 NKX2-5 GATA6
16 embryonic heart tube development GO:0035050 9.86 NKX2-5 NKX2-6
17 epithelial cell apoptotic process GO:1904019 9.85 NKX2-6 NKX2-5
18 negative regulation of epithelial cell apoptotic process GO:1904036 9.84 NKX2-6 NKX2-5
19 ventricular cardiac muscle cell development GO:0055015 9.81 NKX2-6 NKX2-5
20 outflow tract morphogenesis GO:0003151 9.8 NKX2-5 PLXND1 TBX1
21 positive regulation of cardioblast differentiation GO:0051891 9.78 NKX2-5 GATA6
22 atrioventricular node development GO:0003162 9.76 NKX2-5 GATA6
23 heart contraction GO:0060047 9.74 NKX2-5 GATA6
24 atrial cardiac muscle cell development GO:0055014 9.67 NKX2-6 NKX2-5
25 pharyngeal system development GO:0060037 9.63 TBX1 NKX2-6 NKX2-5
26 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.62 ZFPM2 NKX2-5
27 animal organ development GO:0048513 9.61 ZFPM2 GATA6
28 epithelial cell differentiation GO:0030855 9.56 TBX1 NKX2-6 NKX2-5 GATA6
29 system development GO:0048731 9.52 ZFPM2 GATA6
30 cardiac muscle tissue development GO:0048738 9.43 ZFPM2 NKX2-5 GATA6
31 outflow tract septum morphogenesis GO:0003148 9.23 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 9.7 ZFPM2 TBX1 NKX2-6 NKX2-5 GATA6
2 DNA-binding transcription factor activity GO:0003700 9.56 TBX1 NKX2-6 NKX2-5 GATA6
3 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.02 ZFPM2 NKX2-5 GATA6

Sources for Conotruncal Heart Malformations

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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