MCID: CNT061
MIFTS: 70

Conotruncal Heart Malformations

Categories: Genetic diseases, Rare diseases, Skin diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Conotruncal Heart Malformations

MalaCards integrated aliases for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 53 49 71 36 28 69
Double Outlet Right Ventricle 12 72 49 55 28 41 14
Persistent Truncus Arteriosus 53 37 72 49 71 36
Conotruncal Anomaly Face Syndrome 53 71 28 13 69
Cthm 53 49 71
Tac 55 71 3
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 12 55
Double-Outlet Right Ventricle 53 71
Truncus Arteriosus Communis 71 28
Common Arterial Trunk 55 71
Truncus Arteriosus 55 28
Dorv 55 71
Double Outlet Right Ventricle with Transposition of the Great Arteries 55
Double Outlet Right Ventricle, Unspecified 12
Conotruncal Heart Malformations, Variable 53
Double Outlet Right Ventricle Nos 12
Taussig-Bing Syndrome or Defect 12
Truncus Arteriosus, Persistent 41
Common Aorticopulmonary Trunk 55
Dextrotransposition of Aorta 12
Conotruncal Cardiac Defects 49
Dorv with Subpulmonary Vsd 55
Conotruncal Heart Defects 71
Taussig-Bing Syndrome 55
Dorv-Tga 55
Cafs 71
Cthd 71
Pta 71

Characteristics:

Orphanet epidemiological data:

55
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:



External Ids:

OMIM 53 217095
Disease Ontology 12 DOID:6406
ICD9CM 34 745.11
NCIt 46 C98916
UMLS via Orphanet 70 C0041207 C0013069 C1956412 more
ICD10 via Orphanet 33 Q20.0 Q20.1
MESH via Orphanet 42 D004310

Summaries for Conotruncal Heart Malformations

NIH Rare Diseases : 49 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. Last updated: 4/13/2015

MalaCards based summary : Conotruncal Heart Malformations, also known as double outlet right ventricle, is related to velocardiofacial syndrome and tricuspid atresia, and has symptoms including hypertelorism, abnormality of metabolism/homeostasis and patent ductus arteriosus. An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 Homeobox 6), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Mesodermal Commitment Pathway. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include Neural Crest and Head Mesenchyme, and related phenotypes are cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 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 The Tribal Advisory Committee (TAC) advises CDC/ATSDR on policy issues and broad strategies that may significantly affect American Indian/Alaska Native communities. The TAC will assist CDC/ATSDR in fulfilling its mission to promote health and quality of life by preventing and controlling disease, injury, and disability through established and ongoing relationships and consultation sessions.

Wikipedia : 72 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

Description 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 109)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 33.1 CFC1 NKX2-6 TBX1
2 tricuspid atresia 30.6 CRELD1 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
3 atrioventricular septal defect 30.4 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
4 patent foramen ovale 30.2 CITED2 GATA4 GATA6 NKX2-5 TBX20
5 ventricular septal defect 29.8 CITED2 GATA4 GATA6 GDF1 ISL1 NKX2-5
6 transposition of the great arteries 29.8 CFC1 CRELD1 GATA4 GATA6 GDF1 NKX2-5
7 heart disease 29.1 CFC1 CITED2 CRELD1 GATA4 GDF1 ISL1
8 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.7
9 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.6
10 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.4
11 sacral meningocele conotruncal heart defects 12.3
12 beemer ertbruggen syndrome 11.8
13 factor xi deficiency 11.6
14 genitopalatocardiac syndrome 11.5
15 aortopulmonary window 11.4
16 ritscher-schinzel syndrome 1 11.3
17 sunct headache 11.1
18 isotretinoin embryopathy-like syndrome 11.0
19 emanuel syndrome 11.0
20 chromosome 10p deletion 11.0
21 complete atrioventricular canal-tetralogy of fallot syndrome 10.5 CRELD1 GATA4
22 complete atrioventricular canal-left heart obstruction syndrome 10.5 CRELD1 GATA4
23 dextro-looped transposition of the great arteries 10.5 CFC1 GDF1 NKX2-6
24 partial atrioventricular canal 10.5 CRELD1 GATA4 GATA6
25 complete atrioventricular canal-ventricle hypoplasia syndrome 10.4 CRELD1 GATA4 GATA6
26 pulmonary valve stenosis 10.4 CRELD1 GATA4 NKX2-6
27 46,xy partial gonadal dysgenesis 10.4 GATA4 ZFPM2
28 patent ductus arteriosus 1 10.4 CRELD1 GATA6 GDF1 NKX2-6
29 pulmonary valve disease 10.4 CRELD1 GATA4 GATA6 NKX2-6
30 diaphragmatic hernia, congenital 10.4 GATA4 GATA6 ZFPM2
31 arrhythmogenic right ventricular dysplasia, familial, 5 10.3 MEF2A MEF2C NKX2-5
32 esophageal atresia/tracheoesophageal fistula 10.3 NKX2-6 TBX1
33 tricuspid valve disease 10.3 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
34 visceral heterotaxy 10.3 CFC1 GDF1 PITX2
35 ebstein anomaly 10.3 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
36 cardiomyopathy, dilated, 1e 10.3 MEF2A MEF2C NKX2-5
37 aging 10.2
38 bladder cancer 10.2
39 familial atrial fibrillation 10.2 GATA4 GATA6 NKX2-5 NKX2-6 PITX2
40 total anomalous pulmonary venous return 1 10.1 CRELD1 NKX2-6
41 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 10.1
42 atrial heart septal defect 10.1 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX20
43 right aortic arch 10.1
44 ischemia 10.1
45 leukemia 10.0
46 rheumatoid arthritis 10.0
47 arthritis 10.0
48 juvenile rheumatoid arthritis 10.0
49 critical limb ischemia 10.0
50 limb ischemia 10.0

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



Diseases related to Conotruncal Heart Malformations

Symptoms & Phenotypes for Conotruncal Heart Malformations

Clinical features from OMIM:

217095

Human phenotypes related to Conotruncal Heart Malformations:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 patent ductus arteriosus 31 frequent (33%) HP:0001643
4 coarctation of aorta 31 HP:0001680
5 tetralogy of fallot 31 hallmark (90%) HP:0001636
6 truncus arteriosus 31 HP:0001660
7 transposition of the great arteries 31 hallmark (90%) HP:0001669
8 pulmonary artery atresia 31 frequent (33%) HP:0004935
9 broad hallux 31 HP:0010055
10 double outlet right ventricle 31 HP:0001719
11 postaxial polydactyly 31 HP:0100259
12 complete atrioventricular canal defect 31 HP:0001674
13 abnormal aortic arch morphology 31 frequent (33%) HP:0012303

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.46 ISL1 MEF2A MEF2C MESP1 NKX2-5 NKX2-6
2 cellular MP:0005384 10.42 CRELD1 GATA4 GATA6 GDF1 ISL1 MEF2A
3 embryo MP:0005380 10.36 GDF1 ISL1 MEF2C MESP1 NKX2-5 NKX2-6
4 growth/size/body region MP:0005378 10.35 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2A
5 mortality/aging MP:0010768 10.3 MEF2A MEF2C MESP1 NKX2-5 NKX2-6 PITX2
6 craniofacial MP:0005382 10.24 ISL1 MEF2C MESP1 NKX2-5 PITX2 PLXND1
7 homeostasis/metabolism MP:0005376 10.21 CITED2 GATA4 GATA6 ISL1 MESP1 NKX2-5
8 endocrine/exocrine gland MP:0005379 10.19 ISL1 MESP1 NKX2-5 PITX2 PLXND1 TBX1
9 hematopoietic system MP:0005397 10.16 GATA4 GATA6 GDF1 MEF2C MESP1 NKX2-5
10 digestive/alimentary MP:0005381 10.13 CITED2 GATA4 GDF1 ISL1 NKX2-5 PITX2
11 muscle MP:0005369 10.1 GATA4 GATA6 ISL1 MEF2A MEF2C MESP1
12 nervous system MP:0003631 10.07 CITED2 CRELD1 GATA4 GDF1 ISL1 MEF2A
13 normal MP:0002873 10.03 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2A
14 limbs/digits/tail MP:0005371 10.01 CITED2 GATA4 GATA6 ISL1 MEF2C PITX2
15 respiratory system MP:0005388 9.77 CITED2 GATA4 GATA6 GDF1 MEF2A MEF2C
16 skeleton MP:0005390 9.36 MOSPD1 PITX2 PLXND1 TBX1 UNCX CITED2

Drugs & Therapeutics for Conotruncal Heart Malformations

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved 13422-51-0 5460373 44475014 11953898
2
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
3
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4
leucovorin Approved, Nutraceutical 58-05-9 143 6006
5
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4
6
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
7 Vitamin B 12
8 Vitamin B Complex
9 Anticoagulants
10 Bone Density Conservation Agents
11 Calcium, Dietary
12 Chelating Agents
13 Hormones
14
Cobalamin Nutraceutical 13408-78-1 6438156
15 Folate Nutraceutical
16 Vitamin B12 Nutraceutical
17 Vitamin B9 Nutraceutical
18 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

Search NIH Clinical Center for Conotruncal Heart Malformations

Cochrane evidence based reviews: double outlet right ventricle

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 CFC1 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
3 Double Outlet Right Ventricle 28
4 Truncus Arteriosus 28
5 Truncus Arteriosus Communis 28

Anatomical Context for Conotruncal Heart Malformations

MalaCards organs/tissues related to Conotruncal Heart Malformations:

38
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

Publications for Conotruncal Heart Malformations

Articles related to Conotruncal Heart Malformations:

(show top 50) (show all 400)
# Title Authors Year
1
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. ( 28254208 )
2017
2
Surgical management of double outlet right ventricle with aortopulmonary window. ( 28247470 )
2017
3
HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle. ( 28112363 )
2017
4
Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle. ( 28636109 )
2017
5
Double Outlet Right Ventricle with Noncommitted Ventricular Septal Defect and Two Adequate Ventricles: is Anatomical Repair Advantageous? ( 27568140 )
2016
6
Clinical Application and Multidisciplinary Assessment of Three Dimensional Printing in Double Outlet Right Ventricle With Remote Ventricular Septal Defect. ( 27142402 )
2016
7
Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations? ( 27751200 )
2016
8
Double-Outlet Right Ventricle With Noncommitted Ventricular Septal Defect and 2 Adequate Ventricles: Is Anatomical Repair Advantageous? ( 27568139 )
2016
9
The Triply Twisted Heart: Cyanosis in an Adult With Situs Inversus, Levocardia, Double Outlet Right Ventricle, and Malposition of the Great Arteries. ( 28197259 )
2015
10
Persistent 5th aortic arch with coexisting discontinuous pulmonary arteries, double-outlet right ventricle, and complete atrioventricular septal defect. ( 25873812 )
2015
11
TBX20 loss-of-function mutation contributes to double outlet right ventricle. ( 25625280 )
2015
12
Surgical approach to a rare case of double-outlet right ventricle and aortopulmonary window. ( 25737002 )
2015
13
Perioperative management of combined surgery for phaeochromocytoma and double outlet right ventricle: A rare combination. ( 26195836 )
2015
14
Use of 3-dimensional printing to demonstrate complex intracardiac relationships in double-outlet right ventricle for surgical planning. ( 25904574 )
2015
15
De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay. ( 25810372 )
2015
16
A case of pentalogy of Cantrell with double outlet right ventricle. ( 26458354 )
2015
17
Biventricular repair for double outlet right ventricle with non-committed ventricular septal defecta8 ( 25612745 )
2015
18
Biventricular repair of double-outlet right ventricle and closing ventricular septal defect. ( 25555952 )
2015
19
Ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia. ( 25409882 )
2015
20
Accessory tricuspid valve leaflet and an anomalous muscle bundle in the right ventricular outflow tract in a patient with double-outlet right ventricle: a rare case report. ( 24646094 )
2014
21
Reply: Anatomically corrected malposition or double outlet right ventricle? ( 24668995 )
2014
22
Double outlet right ventricle, atrioventricular canal defect with severe pulmonary artery stenosis: a rare cyanotic congenital heart disease. ( 25252539 )
2014
23
Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic Tetralogy of Fallot and double outlet right ventricle in a Chinese Han population. ( 24469719 )
2014
24
Aortopulmonary window and double outlet right ventricle: a rare combination. ( 24994739 )
2014
25
Double outlet right ventricle with intact ventricular septum. ( 24643154 )
2014
26
Case of double-outlet right ventricle after repair with pulmonary arteriovenous malformations using cardiac CT. ( 24998091 )
2014
27
Surgical outcomes of 380 patients with double outlet right ventricle who underwent biventricular repair. ( 24997522 )
2014
28
Successful biventricular repair of double-outlet right ventricle with transposition of the great arteries, pulmonary stenosis, and straddling mitral valve. ( 24694423 )
2014
29
Abnormal origin of the left subclavian artery from the left pulmonary artery in a patient with double outlet right ventricle. ( 24570863 )
2014
30
Challenges of classifying double outlet right ventricle: importance for genotype-phenotype analyses. ( 24664979 )
2014
31
Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle. ( 25385246 )
2014
32
From Marfan's Syndrome to Double Outlet Right Ventricle-And Everything in Between. ( 25104837 )
2014
33
Anatomically corrected malposition or double outlet right ventricle? ( 24668994 )
2014
34
Absent Aortic Valve Associated with Double Outlet Right Ventricle and Aortopulmonary Window: Physiologic Implications of a Rare Malformation in both the Fetus and Neonate. ( 23701730 )
2013
35
Percutaneous right ventricle outflow tract stenting in a patient with trisomy 18 associated with double outlet right ventricle. ( 23917009 )
2013
36
How best can we define double outlet right ventricle when describing congenitally malformed hearts? ( 23674328 )
2013
37
Double outlet right ventricle versus aortic dextroposition: morphologically distinct defects. ( 23401466 )
2013
38
Combined obstructive hypertrophic cardiomyopathy and double outlet right ventricle in an infant with Down syndrome. ( 24222815 )
2013
39
Holt-oram syndrome associated with double outlet right ventricle: A rare association. ( 23626447 )
2013
40
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. ( 23427188 )
2013
41
Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. ( 23404713 )
2013
42
A systematic three-dimensional echocardiographic approach to assist surgical planning in double outlet right ventricle. ( 23167820 )
2013
43
Surgical strategy for atrioventricular septal defect and tetralogy of Fallot or double-outlet right ventricle. ( 23602064 )
2013
44
Transcatheter Aortic Valve Implantation in Surgically Repaired Double Outlet Right Ventricle. ( 23865720 )
2013
45
Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report. ( 24551981 )
2013
46
Double-outlet right ventricle with an intact ventricular septum: a unique stage 1 palliation. ( 23843101 )
2013
47
Echocardiographic recognition of a criss-cross heart with double outlet right ventricle. ( 23847656 )
2013
48
Double outlet right ventricle with unilateral absence of left pulmonary artery. ( 22995573 )
2013
49
Three-dimensional fetal echocardiography for prediction of postnatal surgical approach in double outlet right ventricle: a pilot study. ( 23681839 )
2013
50
Double outlet right ventricle with single coronary artery. ( 22554787 )
2013

Variations for Conotruncal Heart Malformations

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NKX2-5, 3-BP DEL, 871AAC deletion Pathogenic
2 GATA6 GATA6, 2-BP DEL, 1456GA deletion Pathogenic
3 GATA6 NM_005257.5(GATA6): c.1396A> C (p.Asn466His) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
4 ZFPM2 NM_012082.3(ZFPM2): c.681T> G (p.Ile227Met) single nucleotide variant Pathogenic rs397514520 GRCh37 Chromosome 8, 106801094: 106801094
5 ZFPM2 NM_012082.3(ZFPM2): c.2209A> G (p.Lys737Glu) single nucleotide variant Pathogenic rs397514521 GRCh37 Chromosome 8, 106814519: 106814519
6 NKX2-6 NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs) insertion Pathogenic rs587777422 GRCh37 Chromosome 8, 23560416: 23560417
7 NKX2-6 NM_001136271.2(NKX2-6): c.451T> C (p.Phe151Leu) single nucleotide variant Pathogenic rs267606914 GRCh37 Chromosome 8, 23560419: 23560419
8 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh37 Chromosome 8, 106814417: 106814417
9 GDF1 NM_001492.5(GDF1): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs121434423 GRCh37 Chromosome 19, 18979725: 18979725

Expression for Conotruncal Heart Malformations

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

Pathways for Conotruncal Heart Malformations

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 nucleus GO:0005634 9.5 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
2 transcription factor complex GO:0005667 9.26 GATA6 MEF2A NKX2-5 PITX2

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.96 CITED2 GATA4 GATA6 PITX2
2 determination of left/right symmetry GO:0007368 9.94 CFC1 CITED2 PITX2 TBX1
3 vasculogenesis GO:0001570 9.93 CITED2 NKX2-5 PITX2 ZFPM2
4 heart looping GO:0001947 9.93 CITED2 GATA4 MEF2C MESP1 NKX2-5 TBX20
5 heart morphogenesis GO:0003007 9.91 ISL1 MESP1 NKX2-5 TBX1
6 neuron migration GO:0001764 9.9 MEF2C PITX2 TBX20
7 muscle organ development GO:0007517 9.89 MEF2A MEF2C TBX1
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 GATA6 MEF2C TBX20 ZFPM2
9 blood vessel development GO:0001568 9.87 CITED2 MEF2C TBX1
10 ventricular septum morphogenesis GO:0060412 9.87 CITED2 NKX2-5 PITX2 ZFPM2
11 spleen development GO:0048536 9.86 CITED2 NKX2-5 PITX2
12 branching involved in blood vessel morphogenesis GO:0001569 9.83 PITX2 PLXND1 TBX20
13 cardiac muscle tissue development GO:0048738 9.83 GATA6 NKX2-5 PITX2 ZFPM2
14 embryonic heart tube development GO:0035050 9.82 NKX2-5 NKX2-6 TBX20
15 pharyngeal system development GO:0060037 9.81 ISL1 NKX2-5 NKX2-6 TBX1
16 heart development GO:0007507 9.81 CITED2 ISL1 MEF2A MEF2C NKX2-5 NKX2-6
17 cardiac right ventricle morphogenesis GO:0003215 9.8 GATA4 ISL1 TBX20
18 cardiac septum development GO:0003279 9.8 CRELD1 PLXND1 TBX20
19 endocardial cushion development GO:0003197 9.79 CITED2 CRELD1 GATA4
20 ventricular cardiac muscle cell development GO:0055015 9.78 NKX2-5 NKX2-6 PITX2
21 atrial septum morphogenesis GO:0060413 9.78 GATA4 ISL1 NKX2-5 TBX20
22 secondary heart field specification GO:0003139 9.77 ISL1 MEF2C MESP1
23 cardiac ventricle formation GO:0003211 9.73 MEF2C MESP1 NKX2-5
24 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 PITX2
25 response to vitamin A GO:0033189 9.72 GATA4 PITX2
26 endocardial cushion morphogenesis GO:0003203 9.72 ISL1 TBX20
27 positive regulation of cardioblast differentiation GO:0051891 9.72 GATA4 GATA6 NKX2-5
28 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MEF2C
29 smooth muscle cell differentiation GO:0051145 9.71 GATA6 MEF2C
30 left/right axis specification GO:0070986 9.71 CITED2 PITX2
31 cardiac muscle tissue morphogenesis GO:0055008 9.71 NKX2-5 TBX20
32 embryonic viscerocranium morphogenesis GO:0048703 9.71 MEF2C TBX1
33 cardiac ventricle morphogenesis GO:0003208 9.7 GATA4 NKX2-5
34 embryonic heart tube morphogenesis GO:0003143 9.7 MESP1 TBX20
35 positive regulation of male gonad development GO:2000020 9.7 CITED2 ZFPM2
36 intestinal epithelial cell differentiation GO:0060575 9.69 GATA4 GATA6
37 embryonic heart tube left/right pattern formation GO:0060971 9.69 CITED2 NKX2-5
38 cardiac cell fate determination GO:0060913 9.68 ISL1 MESP1
39 cardiac vascular smooth muscle cell differentiation GO:0060947 9.68 GATA6 MESP1
40 pulmonary myocardium development GO:0003350 9.67 NKX2-5 PITX2
41 atrial cardiac muscle cell development GO:0055014 9.67 NKX2-5 NKX2-6
42 ventricular cardiac myofibril assembly GO:0055005 9.67 MEF2A NKX2-5
43 visceral motor neuron differentiation GO:0021524 9.66 ISL1 TBX20
44 pulmonary vein morphogenesis GO:0060577 9.65 PITX2 TBX20
45 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.65 NKX2-5 ZFPM2
46 outflow tract septum morphogenesis GO:0003148 9.43 GATA6 ISL1 NKX2-5 TBX1 TBX20 ZFPM2
47 outflow tract morphogenesis GO:0003151 9.17 CITED2 ISL1 MEF2C NKX2-5 PLXND1 TBX1
48 transcription, DNA-templated GO:0006351 10.38 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
49 regulation of transcription, DNA-templated GO:0006355 10.34 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
50 cell differentiation GO:0030154 10.23 CITED2 ISL1 MEF2A MEF2C MOSPD1 NKX2-5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.98 ISL1 MEF2A MEF2C MESP1 NKX2-5 PITX2
2 transcription factor binding GO:0008134 9.95 GATA4 GATA6 NKX2-5 PITX2 ZFPM2
3 transcription regulatory region DNA binding GO:0044212 9.92 GATA4 GATA6 MEF2C MESP1 NKX2-5
4 chromatin binding GO:0003682 9.92 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.91 GATA4 GATA6 MEF2A MEF2C TBX20
6 DNA binding transcription factor activity GO:0003700 9.9 CITED2 GATA4 GATA6 MEF2A MEF2C MESP1
7 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.89 GATA4 GATA6 MEF2A MEF2C PITX2
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.86 GATA6 ISL1 MEF2A MEF2C MESP1 NKX2-5
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.78 GATA6 MEF2A MEF2C NKX2-5
10 RNA polymerase II transcription factor binding GO:0001085 9.77 GATA4 GATA6 MEF2A TBX20 ZFPM2
11 RNA polymerase II activating transcription factor binding GO:0001102 9.76 CITED2 ISL1 PITX2 TBX20
12 activating transcription factor binding GO:0033613 9.71 GATA4 MEF2A MEF2C
13 sequence-specific DNA binding GO:0043565 9.65 GATA4 GATA6 ISL1 MEF2A MEF2C NKX2-5
14 RNA polymerase II transcription coactivator activity GO:0001105 9.1 CITED2 ISL1 MEF2A PITX2 TBX20 ZFPM2
15 DNA binding GO:0003677 10.22 AHDC1 GATA4 GATA6 ISL1 MEF2A MEF2C

Sources for Conotruncal Heart Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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