Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: CNT061
MIFTS: 61

Conotruncal Heart Malformations

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

Aliases & Classifications for Conotruncal Heart Malformations

About this section

MalaCards integrated aliases for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 57 53 75 29 6 73
Persistent Truncus Arteriosus 57 38 76 53 75 37 6
Conotruncal Anomaly Face Syndrome 57 75 29 13 73
Truncus Arteriosus 59 29 6
Cthm 57 53 75
Tac 59 75 3
Double-Outlet Right Ventricle 75 37
Truncus Arteriosus Communis 75 29
Common Arterial Trunk 59 75
Dorv 59 75
Conotruncal Heart Malformations, Variable 57
Heart Malformations,conotruncal 40
Truncus Arteriosus, Persistent 44
Double Outlet Right Ventricle 59
Common Aorticopulmonary Trunk 59
Conotruncal Cardiac Defects 53
Conotruncal Heart Defects 75
Cafs 75
Cthd 75
Pta 75

Characteristics:

Orphanet epidemiological data:

59
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:

32
conotruncal heart malformations:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Caf
Orphanet: 59  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 217095
UMLS via Orphanet 74 C0041207 C0013069
ICD10 via Orphanet 34 Q20.0 Q20.1
MESH via Orphanet 45 D004310
ICD10 33 L81.3 Q20.0
Sources

Summaries for Conotruncal Heart Malformations

About this section
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2445Disease definitionConotruncal heart malformations are 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) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletionsyndrome (see this term). 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 double outlet right ventricle and transposition of the great arteries. An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 Homeobox 6), and among its related pathways/superpathways are Signaling by NODAL and Heart Development. The drugs Hydroxocobalamin and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include Neural Crest and Head Mesenchyme, and related phenotypes are hypertelorism and truncus arteriosus

UniProtKB/Swiss-Prot : 75 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.

CDC : 3 Summer 2018 CDC/ATSDR Tribal Advisory Committee Meeting

Wikipedia : 76 Persistent truncus arteriosus (or patent truncus arteriosus or common arterial trunk), is a rare form of... more...

Description from OMIM: 217095
Sources

Related Diseases for Conotruncal Heart Malformations

About this section

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

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 double outlet right ventricle 30.8 CFC1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
2 transposition of the great arteries 29.6 GDF1 NKX2-5 ZFPM2
3 tricuspid atresia 29.2 GDF1 NKX2-5 NKX2-6 ZFPM2
4 ventricular septal defect 28.0 GATA6 GDF1 NKX2-5 NKX2-6 ZFPM2
5 atrioventricular septal defect 28.0 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
6 atrial heart septal defect 27.3 CFC1 GATA6 GDF1 NKX2-5 NKX2-6
7 tetralogy of fallot 27.1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
8 heart disease 27.0 CFC1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
9 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.7
10 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.5
11 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.4
12 sacral meningocele conotruncal heart defects 12.3
13 velocardiofacial syndrome 11.8
14 beemer ertbruggen syndrome 11.7
15 factor xi deficiency 11.6
16 genitopalatocardiac syndrome 11.5
17 aortopulmonary window 11.4
18 ritscher-schinzel syndrome 1 11.3
19 congenital heart defects, multiple types, 6 11.3
20 sunct headache 11.1
21 isotretinoin embryopathy-like syndrome 11.0
22 emanuel syndrome 11.0
23 pulmonary valve disease 10.4 GATA6 NKX2-6
24 diaphragmatic eventration 10.3 NKX2-6 ZFPM2
25 esophageal atresia/tracheoesophageal fistula 10.2 NKX2-6 TBX1
26 aging 10.2
27 bladder cancer 10.2
28 atrial septal defect 4 10.2 GATA6 NKX2-5
29 chromosomal deletion syndrome 10.1 NKX2-6 TBX1
30 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 10.1
31 hypoplastic left heart syndrome 10.1 NKX2-5 NKX2-6
32 right aortic arch 10.1
33 total anomalous pulmonary venous return 1 10.1 GDF1 NKX2-6
34 breast cancer 10.0
35 ischemia 10.0
36 leukemia 10.0
37 lymphoma 10.0
38 rheumatoid arthritis 10.0
39 arthritis 10.0
40 juvenile rheumatoid arthritis 10.0
41 critical limb ischemia 10.0
42 limb ischemia 10.0
43 polydactyly 9.9
44 pulmonary hypertension 9.9
45 aortic arch interruption 9.9
46 infective endocarditis 9.9
47 endocarditis 9.9
48 cardiac tamponade 9.9
49 central retinal artery occlusion 9.9
50 patent foramen ovale 9.9

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

About this section

Clinical features from OMIM:

217095

Human phenotypes related to Conotruncal Heart Malformations:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 truncus arteriosus 32 HP:0001660
3 transposition of the great arteries 32 hallmark (90%) HP:0001669
4 complete atrioventricular canal defect 32 HP:0001674
5 coarctation of aorta 32 HP:0001680
6 double outlet right ventricle 32 HP:0001719
7 abnormality of metabolism/homeostasis 32 HP:0001939
8 broad hallux 32 HP:0010055
9 postaxial polydactyly 32 HP:0100259
10 tetralogy of fallot 32 hallmark (90%) HP:0001636
11 patent ductus arteriosus 32 frequent (33%) HP:0001643
12 pulmonary artery atresia 32 frequent (33%) HP:0004935
13 abnormal aortic arch morphology 32 frequent (33%) HP:0012303

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
2 cellular MP:0005384 9.91 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
3 embryo MP:0005380 9.8 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1 GATA6
4 mortality/aging MP:0010768 9.8 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
5 muscle MP:0005369 9.55 GATA6 NKX2-5 PLXND1 TBX1 ZFPM2
6 normal MP:0002873 9.5 GATA6 GDF1 NKX2-5 NKX2-6 PLXND1 TBX1
7 respiratory system MP:0005388 9.1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
Sources

Drugs & Therapeutics for Conotruncal Heart Malformations

About this section

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved 13422-51-0 11953898 44475014
2
Mechlorethamine Approved, Investigational 51-75-2 4033
3
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
4
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5
leucovorin Approved, Nutraceutical 58-05-9 143 6006
6
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4
7
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
8 Vitamin B 12
9 Vitamin B Complex
10 Anticoagulants
11 Bone Density Conservation Agents
12 Calcium, Dietary
13 Chelating Agents
14 Hormones
15
Cobalamin Nutraceutical 13408-78-1 6438156
16 Folate Nutraceutical
17 Vitamin B12 Nutraceutical
18 Vitamin B9 Nutraceutical
19 Citrate Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
2 Conotruncal Cardiac Defects and Nutrigenetic Etiopathogeny Completed NCT01460316
3 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
4 Genes Causing Ebstein's Anomaly Completed NCT00497705
5 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
6 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
7 National Congenital Heart Disease Audit Recruiting NCT02303535
8 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
9 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

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 Anomaly Face Syndrome 29
2 Conotruncal Heart Malformations 29 CFC1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
3 Truncus Arteriosus 29
4 Truncus Arteriosus Communis 29
Sources

Anatomical Context for Conotruncal Heart Malformations

About this section

MalaCards organs/tissues related to Conotruncal Heart Malformations:

41
Heart, Skin, Bone
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 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
2 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
3 Heart Outflow Tract Neural Crest Outflow Tract Cells Potential therapeutic candidate, affected by disease
4 Heart Aorticopulmonary Septum Affected by disease
5 Heart Outflow Tract Cushion Affected by disease
Sources

Publications for Conotruncal Heart Malformations

About this section

Articles related to Conotruncal Heart Malformations:

(show top 50) (show all 126)
# Title Authors Year
1
TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus. ( 28553164 )
2017
2
Outcomes of Surgical Repair for Persistent Truncus Arteriosus from Neonates to Adults: A Single Center's Experience. ( 26752522 )
2016
3
Crossed Pulmonary Arteries in a Patient With Persistent Truncus Arteriosus. ( 27211951 )
2016
4
Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band. ( 27025216 )
2016
5
Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations? ( 27751200 )
2016
6
Central retinal artery occlusion associated with persistent truncus arteriosus and single atrium: a case report. ( 26481874 )
2015
7
Unrepaired persistent truncus arteriosus in a 38-year-old woman with an uneventful pregnancy. ( 26407331 )
2015
8
Persistent truncus arteriosus with aortic dominance in female adult patient. ( 25883754 )
2015
9
Persistent Truncus Arteriosus With Intact Ventricular Septum: Clinical, Hemodynamic and Short-term Surgical Outcome. ( 26495090 )
2015
10
Persistent truncus arteriosus: a rare survival beyond the first decade. ( 24632284 )
2014
11
50 years ago in the journal of pediatrics: pulmonary artery banding for persistent truncus arteriosus. ( 24742651 )
2014
12
An unrepaired persistent truncus arteriosus in a 62-year-old adult. ( 25010508 )
2014
13
Persistent truncus arteriosus with double aortic arch and mitral stenosis. ( 23143310 )
2013
14
Multimodality imaging of type 4 persistent truncus arteriosus in an adult patient. ( 24172814 )
2013
15
Crossed pulmonary arteries associated with persistent truncus arteriosus and right aortic arch on the three-dimensional computed tomographic imaging. ( 23728269 )
2013
16
Mid-term results after correction of type I and type II persistent truncus arteriosus in older patients. ( 22458281 )
2012
17
A unique association with persistent truncus arteriosus and partial midline chest wall defect. ( 22608911 )
2012
18
Long-term follow-up of persistent truncus arteriosus: Kuwait experience. ( 22205122 )
2012
19
Repair of persistent truncus arteriosus without a conduit: sleeve resection of the pulmonary trunk from the aorta and direct right ventricle-pulmonary artery anastomosis. ( 21237668 )
2011
20
eComment: Re: Staged biventricular repair for persistent truncus arteriosus with aortic arch obstruction following bilateral pulmonary artery banding. ( 21257956 )
2011
21
Staged biventricular repair for persistent truncus arteriosus with aortic arch obstruction following bilateral pulmonary artery banding. ( 21047826 )
2011
22
Long-term results after correction of persistent truncus arteriosus in 83 patients. ( 20137966 )
2010
23
Absent ductus venosus associated with persistent truncus arteriosus: prenatal diagnosis. ( 20420741 )
2010
24
Newborn with persistent truncus arteriosus and interrupted aortic arch demonstrating reverse left subclavian artery flow. ( 20957476 )
2010
25
Persistent truncus arteriosus with intact ventricular septum diagnosed by echocardiography. ( 19951618 )
2009
26
Ante-mortem diagnosis of persistent truncus arteriosus in an 8-year-old asymptomatic dog. ( 19446515 )
2009
27
Persistent truncus arteriosus with dissecting aneurysm and subsequent cardiac tamponade in a lamb. ( 19564508 )
2009
28
Cardiovascular flashlight. Persistent truncus arteriosus: a rare finding in adults. ( 19224931 )
2009
29
Pulmonary atresia or persistent truncus arteriosus: is it important to make the distinction and how do we do it? ( 18703785 )
2008
30
Single ventricle with persistent truncus arteriosus as two rare entities in an adult patient: a case report. ( 18513397 )
2008
31
Persistent truncus arteriosus in a cat. ( 17689468 )
2007
32
Right ventricular outflow tract reconstruction in patients with persistent truncus arteriosus: a 15-year experience in a single Japanese center. ( 17965501 )
2007
33
Repair of persistent truncus arteriosus with interrupted aortic arch: what did we learn? ( 16476547 )
2006
34
Persistent truncus arteriosus with double aortic arch. ( 16565901 )
2006
35
Persistent truncus arteriosus: twenty years experience in a tertiary care center in Taiwan. ( 16302570 )
2005
36
Persistent truncus arteriosus in a 6-year-old cat. ( 16109102 )
2005
37
Repair of persistent truncus arteriosus with interrupted aortic arch. ( 16194613 )
2005
38
Adult survival of persistent truncus arteriosus type IV. ( 12714220 )
2003
39
Persistent truncus arteriosus with absence of right pulmonary artery. ( 12695462 )
2003
40
Persistent truncus arteriosus and patent foramen ovale in a Simmentaler x Braunvieh calf. ( 12665146 )
2003
41
Persistent Truncus Arteriosus. ( 12941211 )
2003
42
Persistent truncus arteriosus in a rhesus monkey (Macaca mulatta). ( 12102574 )
2002
43
Persistent truncus arteriosus type 4 with survival to the age of 54 years. ( 11786164 )
2002
44
Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. ( 11688556 )
2001
45
Persistent truncus arteriosus in monozygotic twins: case report and literature review. ( 9934979 )
1999
46
Factors associated with outcomes of persistent truncus arteriosus. ( 10440171 )
1999
47
Tricuspid atresia with persistent truncus arteriosus. ( 10389376 )
1999
48
Successful reoperation for severe left bronchus compression after repair of persistent truncus arteriosus with interrupted aortic arch. ( 9628382 )
1998
49
Excitation-contraction coupling in the day 15 embryonic chick heart with persistent truncus arteriosus. ( 9396550 )
1997
50
A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago. ( 9193040 )
1997
Sources

Variations for Conotruncal Heart Malformations

About this section

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

75
# 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

ClinVar genetic disease variations for Conotruncal Heart Malformations:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-6 NM_001136271.2(NKX2-6): c.451T> C (p.Phe151Leu) single nucleotide variant Pathogenic rs267606914 GRCh37 Chromosome 8, 23560419: 23560419
2 NKX2-6 NM_001136271.2(NKX2-6): c.451T> C (p.Phe151Leu) single nucleotide variant Pathogenic rs267606914 GRCh38 Chromosome 8, 23702906: 23702906
3 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh37 Chromosome 8, 106814417: 106814417
4 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh38 Chromosome 8, 105802189: 105802189
5 GDF1 NM_001492.5(GDF1): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs121434423 GRCh37 Chromosome 19, 18979725: 18979725
6 GDF1 NM_001492.5(GDF1): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs121434423 GRCh38 Chromosome 19, 18868916: 18868916
7 NKX2-5 NKX2-5, 3-BP DEL, 871AAC deletion Pathogenic
8 GATA6 GATA6, 2-BP DEL, 1456GA deletion Pathogenic
9 GATA6 NM_005257.5(GATA6): c.1396A> C (p.Asn466His) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
10 GATA6 NM_005257.5(GATA6): c.1396A> C (p.Asn466His) single nucleotide variant Pathogenic rs387906813 GRCh38 Chromosome 18, 22181546: 22181546
11 ZFPM2 NM_012082.3(ZFPM2): c.681T> G (p.Ile227Met) single nucleotide variant Pathogenic rs397514520 GRCh37 Chromosome 8, 106801094: 106801094
12 ZFPM2 NM_012082.3(ZFPM2): c.681T> G (p.Ile227Met) single nucleotide variant Pathogenic rs397514520 GRCh38 Chromosome 8, 105788866: 105788866
13 ZFPM2 NM_012082.3(ZFPM2): c.2209A> G (p.Lys737Glu) single nucleotide variant Pathogenic rs397514521 GRCh37 Chromosome 8, 106814519: 106814519
14 ZFPM2 NM_012082.3(ZFPM2): c.2209A> G (p.Lys737Glu) single nucleotide variant Pathogenic rs397514521 GRCh38 Chromosome 8, 105802291: 105802291
15 NKX2-6 NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs) insertion Pathogenic rs587777422 GRCh37 Chromosome 8, 23560416: 23560417
16 NKX2-6 NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs) insertion Pathogenic rs587777422 GRCh38 Chromosome 8, 23702903: 23702904
17 NKX2-6 NM_001136271.2(NKX2-6): c.274C> A (p.Gln92Lys) single nucleotide variant Uncertain significance rs530501230 GRCh38 Chromosome 8, 23706325: 23706325
18 NKX2-6 NM_001136271.2(NKX2-6): c.274C> A (p.Gln92Lys) single nucleotide variant Uncertain significance rs530501230 GRCh37 Chromosome 8, 23563838: 23563838
19 NKX2-6 NM_001136271.2(NKX2-6): c.386C> A (p.Ala129Glu) single nucleotide variant Benign rs143039156 GRCh38 Chromosome 8, 23702971: 23702971
20 NKX2-6 NM_001136271.2(NKX2-6): c.386C> A (p.Ala129Glu) single nucleotide variant Benign rs143039156 GRCh37 Chromosome 8, 23560484: 23560484
21 NKX2-6 NM_001136271.2(NKX2-6): c.183C> T (p.Gly61=) single nucleotide variant Benign rs139466287 GRCh38 Chromosome 8, 23706416: 23706416
22 NKX2-6 NM_001136271.2(NKX2-6): c.183C> T (p.Gly61=) single nucleotide variant Benign rs139466287 GRCh37 Chromosome 8, 23563929: 23563929
23 NKX2-6 NM_001136271.2(NKX2-6): c.180C> T (p.Gly60=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 23706419: 23706419
24 NKX2-6 NM_001136271.2(NKX2-6): c.180C> T (p.Gly60=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 23563932: 23563932
25 NKX2-6 NM_001136271.2(NKX2-6): c.340_348dup (p.Gly116_Asp117insAsnSerGly) duplication Uncertain significance GRCh38 Chromosome 8, 23703009: 23703017
26 NKX2-6 NM_001136271.2(NKX2-6): c.340_348dup (p.Gly116_Asp117insAsnSerGly) duplication Uncertain significance GRCh37 Chromosome 8, 23560522: 23560530
27 NKX2-6 NM_001136271.2(NKX2-6): c.29C> G (p.Pro10Arg) single nucleotide variant Likely benign rs747477274 GRCh38 Chromosome 8, 23706570: 23706570
28 NKX2-6 NM_001136271.2(NKX2-6): c.29C> G (p.Pro10Arg) single nucleotide variant Likely benign rs747477274 GRCh37 Chromosome 8, 23564083: 23564083
29 NKX2-6 NM_001136271.2(NKX2-6): c.359G> C (p.Arg120Pro) single nucleotide variant Likely benign rs61743032 GRCh37 Chromosome 8, 23560511: 23560511
30 NKX2-6 NM_001136271.2(NKX2-6): c.359G> C (p.Arg120Pro) single nucleotide variant Likely benign rs61743032 GRCh38 Chromosome 8, 23702998: 23702998
31 NKX2-6 NM_001136271.2(NKX2-6): c.121T> A (p.Phe41Ile) single nucleotide variant Uncertain significance rs576577900 GRCh37 Chromosome 8, 23563991: 23563991
32 NKX2-6 NM_001136271.2(NKX2-6): c.121T> A (p.Phe41Ile) single nucleotide variant Uncertain significance rs576577900 GRCh38 Chromosome 8, 23706478: 23706478
33 NKX2-6 NM_001136271.2(NKX2-6): c.786C> G (p.Gly262=) single nucleotide variant Benign rs61749320 GRCh38 Chromosome 8, 23702571: 23702571
34 NKX2-6 NM_001136271.2(NKX2-6): c.786C> G (p.Gly262=) single nucleotide variant Benign rs61749320 GRCh37 Chromosome 8, 23560084: 23560084
35 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 16086050: 16086050
36 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 15945928: 15945928
37 NKX2-6 NM_001136271.2(NKX2-6): c.826G> T (p.Ala276Ser) single nucleotide variant Uncertain significance rs959054178 GRCh37 Chromosome 8, 23560044: 23560044
38 NKX2-6 NM_001136271.2(NKX2-6): c.826G> T (p.Ala276Ser) single nucleotide variant Uncertain significance rs959054178 GRCh38 Chromosome 8, 23702531: 23702531
39 NKX2-6 NM_001136271.2(NKX2-6): c.745G> A (p.Gly249Arg) single nucleotide variant Uncertain significance rs752427485 GRCh37 Chromosome 8, 23560125: 23560125
40 NKX2-6 NM_001136271.2(NKX2-6): c.745G> A (p.Gly249Arg) single nucleotide variant Uncertain significance rs752427485 GRCh38 Chromosome 8, 23702612: 23702612
41 NKX2-6 NM_001136271.2(NKX2-6): c.276G> A (p.Gln92=) single nucleotide variant Likely benign rs768775204 GRCh38 Chromosome 8, 23703081: 23703081
42 NKX2-6 NM_001136271.2(NKX2-6): c.276G> A (p.Gln92=) single nucleotide variant Likely benign rs768775204 GRCh37 Chromosome 8, 23560594: 23560594
43 NKX2-6 NM_001136271.2(NKX2-6): c.867C> T (p.Gly289=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 23560003: 23560003
44 NKX2-6 NM_001136271.2(NKX2-6): c.867C> T (p.Gly289=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 23702490: 23702490
Sources

Expression for Conotruncal Heart Malformations

About this section
Search GEO for disease gene expression data for Conotruncal Heart Malformations.
Sources

Pathways for Conotruncal Heart Malformations

About this section

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

# Super pathways Score Top Affiliating Genes
1
Signaling by NODAL 66
Show member pathways
 10.65 CFC1 GDF1
2
Heart Development 1
10.46 GATA6 NKX2-5 TBX1
Sources

GO Terms for Conotruncal Heart Malformations

About this section

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 GATA6 NKX2-5 TBX1 ZFPM2
2 multicellular organism development GO:0007275 9.91 CFC1 NKX2-5 NKX2-6 PLXND1 TBX1
3 positive regulation of transcription, DNA-templated GO:0045893 9.84 GATA6 NKX2-5 TBX1 ZFPM2
4 BMP signaling pathway GO:0030509 9.63 CFC1 GDF1 NKX2-5
5 epithelial cell differentiation GO:0030855 9.62 GATA6 TBX1
6 determination of left/right symmetry GO:0007368 9.61 CFC1 TBX1
7 vasculogenesis GO:0001570 9.61 NKX2-5 ZFPM2
8 cell development GO:0048468 9.6 GATA6 GDF1
9 blood vessel development GO:0001568 9.59 CFC1 TBX1
10 heart morphogenesis GO:0003007 9.58 NKX2-5 TBX1
11 digestive tract development GO:0048565 9.58 GATA6 NKX2-6
12 outflow tract morphogenesis GO:0003151 9.58 NKX2-5 PLXND1 TBX1
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.57 GATA6 ZFPM2
14 ventricular septum morphogenesis GO:0060412 9.56 NKX2-5 ZFPM2
15 cardiac muscle cell differentiation GO:0055007 9.55 GATA6 NKX2-5
16 thyroid gland development GO:0030878 9.52 NKX2-5 TBX1
17 embryonic heart tube development GO:0035050 9.49 NKX2-5 NKX2-6
18 ventricular cardiac muscle cell development GO:0055015 9.48 NKX2-5 NKX2-6
19 positive regulation of cardioblast differentiation GO:0051891 9.43 GATA6 NKX2-5
20 cardiac muscle tissue development GO:0048738 9.43 GATA6 NKX2-5 ZFPM2
21 atrial cardiac muscle cell development GO:0055014 9.37 NKX2-5 NKX2-6
22 pharyngeal system development GO:0060037 9.33 NKX2-5 NKX2-6 TBX1
23 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.32 NKX2-5 ZFPM2
24 outflow tract septum morphogenesis GO:0003148 9.26 GATA6 NKX2-5 TBX1 ZFPM2
25 heart development GO:0007507 9.1 CFC1 GATA6 NKX2-5 NKX2-6 TBX1 ZFPM2

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.43 GATA6 NKX2-5 ZFPM2
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.35 GATA6 NKX2-5 NKX2-6 TBX1 ZFPM2
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.32 GATA6 NKX2-5
4 RNA polymerase II transcription factor binding GO:0001085 9.16 GATA6 ZFPM2
5 sequence-specific DNA binding GO:0043565 8.92 GATA6 NKX2-5 NKX2-6 TBX1
Sources

Sources for Conotruncal Heart Malformations

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....