MCID: CNT061
MIFTS: 61

Conotruncal Heart Malformations malady

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

Aliases & Classifications for Conotruncal Heart Malformations

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 25GTR, 33LifeMap Discovery®, 66UMLS, 23GeneTests, 12diseasecard, 11Disease Ontology, 13DISEASES, 52Orphanet, 37MeSH, 2CDC, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 50 46 68 25 33 66
Conotruncal Anomaly Face Syndrome 50 23 68 25 12 66
Double Outlet Right Ventricle 11 46 13 52 25 37
Persistent Truncus Arteriosus 50 33 46 68
Double-Outlet Right Ventricle 50 23 68
Tac 52 68 2
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 11 52
Conotruncal Heart Malformations, Variable 50 23
Common Arterial Trunk 52 68
Truncus Arteriosus 52 25
Dorv 52 68
Cthm 46 68
Double Outlet Right Ventricle with Transposition of the Great Arteries 52
Double Outlet Right Ventricle, Unspecified 11
Double Outlet Right Ventricle Nos 11
 
Dorv, Truncus Arteriosus Communis 23
Taussig-Bing Syndrome or Defect 11
Truncus Arteriosus, Persistent 37
Common Aortico-Pulmonary Trunk 52
Dextrotransposition of Aorta 11
Truncus Arteriosus Communis 68
Conotruncal Cardiac Defects 46
Dorv with Subpulmonary Vsd 52
Conotruncal Heart Defects 68
Taussig-Bing Syndrome 52
Dorv-Tga 52
Cthd 68
Cafs 68
Ctaf 23
Pta 68

Characteristics:

Orphanet epidemiological data:

52
tac:
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:

62
conotruncal heart malformations:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 217095
Disease Ontology11 DOID:6406
ICD9CM30 745.11
NCIt43 C98916
ICD10 via Orphanet29 Q20.0, Q20.1
UMLS via Orphanet67 C0013069
MESH via Orphanet38 D004310

Summaries for Conotruncal Heart Malformations

About this section
UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Conotruncal Heart Malformations, also known as conotruncal anomaly face syndrome, is related to double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis and double outlet right ventricle with non-committed subpulmonary ventricular septal defect, and has symptoms including tetralogy of fallot, transposition of the great arteries and patent ductus arteriosus. An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 Homeobox 6), and among its related pathways are HOP Signaling and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart and skin, and related mouse phenotypes are no phenotypic analysis and craniofacial.

CDC:2 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.

Description from OMIM:50 217095

Related Diseases for Conotruncal Heart Malformations

About this section

Diseases in the Conotruncal Heart Malformations family:

Cfc1-Related Conotruncal Heart Malformations

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis12.6
2double outlet right ventricle with non-committed subpulmonary ventricular septal defect12.6
3double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy12.4
4sacral meningocele conotruncal heart defects12.3
5cfc1-related conotruncal heart malformations12.2
6velocardiofacial syndrome12.0
7beemer ertbruggen syndrome11.5
8factor xi deficiency, autosomal recessive11.2
9microphthalmia microtia fetal akinesia11.2
10cor triatriatum10.9
11ventricular septal defect10.9
12digeorge syndrome10.8
13univentricular heart with single atrio-ventricular valve10.7CRELD1, GATA4
14undifferentiated carcinoma of the corpus uteri10.7CFC1, GDF1
15azygos continuation of the inferior vena cava10.7CRELD1, GATA4
16straddling and/or overriding mitral valve10.7CRELD1, GATA4, GATA6
17partial duplication of the short arm of chromosome x10.7CRELD1, GATA4, GATA6
18cervical adenoid basal carcinoma10.6CRELD1, GATA4, NKX2-6
19transposition of the great arteries10.6
20pericardium disease10.6CRELD1, GATA6, GDF1, NKX2-6
21tetralogy of fallot10.6
226-phosphogluconate dehydrogenase deficiency10.6CITED2, GATA4, NKX2-5, NKX2-6
23pancreatic serous cystadenocarcinoma10.6CRELD1, GATA4, GATA6, NKX2-6
24huriez syndrome10.6CRELD1, NKX2-6
25drug-induced vasculitis10.5GATA4, ZFPM2
26suppurative cholangitis10.5GDF1, NKX2-6
27pulmonic stenosis10.5
28hereditary sensory neuropathy10.5CFC1, GDF1, PITX2
29pituitary adenoma10.5GATA4, GATA6, ZFPM2
30complete atrioventricular canal10.5
31beta-ureidopropionase deficiency10.5CTHM, DGCR, GDF1, TBX1
32macroglossia10.5CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
33cataract 17, multiple types10.4CTHM, DGCR, GDF1, NKX2-6, TBX1
34atrioventricular septal defect10.4
35dextrocardia10.4
36vitelliform macular dystrophy10.4GATA4, GATA6, NKX2-5, NKX2-6, PITX2
37fetal alcohol syndrome10.3CRELD1, GATA4, GATA6, GDF1, NKX2-5, NKX2-6
38aortopulmonary window10.3
39pentalogy of cantrell10.3
40pyelonephritis10.3CFC1, GATA4, MEF2A, NKX2-5, NKX2-6
41situs inversus10.3
42left ventricular outflow tract obstruction10.3
43aneurysm10.3
44ectopia cordis10.3
45viral hepatitis10.3CRELD1, GATA4, GDF1, NKX2-5, NKX2-6, TBX20
46heart disease10.2
47congenital heart disease10.2
48heterotaxy10.2
49photokeratitis10.2CITED2, GATA4, GATA6, NKX2-5, NKX2-6, TBX20
50mitral atresia10.1

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



Diseases related to conotruncal heart malformations

Symptoms for Conotruncal Heart Malformations

About this section

Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

HPO human phenotypes related to Conotruncal Heart Malformations:

(show all 14)
id Description Frequency HPO Source Accession
1 tetralogy of fallot hallmark (90%) HP:0001636
2 transposition of the great arteries hallmark (90%) HP:0001669
3 patent ductus arteriosus typical (50%) HP:0001643
4 abnormality of the aorta typical (50%) HP:0001679
5 abnormality of the pulmonary artery typical (50%) HP:0004414
6 hypertelorism rare (5%) HP:0000316
7 truncus arteriosus HP:0001660
8 transposition of the great arteries HP:0001669
9 complete atrioventricular canal defect HP:0001674
10 coarctation of aorta HP:0001680
11 double outlet right ventricle HP:0001719
12 abnormality of metabolism/homeostasis HP:0001939
13 broad hallux HP:0010055
14 postaxial polydactyly HP:0100259

Drugs & Therapeutics for Conotruncal Heart Malformations

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Citric Acid106377-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
2
Hydroxocobalamin23613422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
3
Mechlorethamine36351-75-24033
Synonyms:
.Beta.,.beta.'-Dichlorodiethyl-N-methylamine
1, 5-Dichloro-3-methyl-3-azapentane hydrochloride
126-85-2 (N-oxide)
2,2'-Dichloro-N-me
2,2'-Dichloro-N-methyldiethylamine
2,2'-Dichlorodiethyl-methylamine
2,2'-dichloro-N-methyldiethylamine
2-Chloro-N-(2-chloroethyl)-N-methylethanamine
302-70-5 (N-oxide, hydrochloride)
51-75-2
55-86-7 (HYDROCHLORIDE)
AC1L1H9H
Antimit
BRN 0605323
BSPBio_001947
Bis(2-chloroethyl)methylamine
Bis(beta-chloroethyl) methylamine
Bis(beta-chloroethyl)methylamine
C07115
C5H11Cl2N
CCRIS 447
CHEBI:28925
CHEMBL427
CID4033
Carolysine
Caryolysin
Caryolysine
Chloramine (the nitrogen mustard)
Chlorethazine
Chlormethine
Chlormethine (INN)
Chlormethine [INN:BAN]
Chlormethinum [INN-Latin]
Cloramin
Clormetina
Clormetina [INN-Spanish]
D07671
DB00888
Di(2-chloroethyl)methylamine
Dichlor amine
Dichloren
DivK1c_000759
EINECS 200-120-5
ENT-25294
Embechine
Embichin
HMS1920J15
HMS2091B04
HMS502F21
HN-2
HN2
HSDB 5083
I14-8708
IBS-L0033631
IDI1_000759
KBio1_000759
KBio2_001369
KBio2_003937
KBio2_006505
KBio3_001447
 
KBioGR_001448
KBioSS_001369
LS-7559
MBA
Me chloroethamine
Mebichloramine
Mechlorethamine
Mechlorethanamine
Mechloroethamine
Mecloretamina
Mecloretamina [Italian]
Methylbis(2-chloroethyl)amine
Methylbis(beta-chloroethyl)amine
Methyldi(2-chloroethyl)amine
Mitoxine (*Hydrochloride*)
MolPort-001-785-592
Mustargen
Mustine
Mustine note
Mutagen
N,N-Bis(2-chloroethyl)-N-methylamine
N,N-Bis(2-chloroethyl)methylamine
N,N-Di(chloroethyl)methylamine
N-Lost
N-Methyl lost
N-Methyl-2,2'-dichlorodiethylamine
N-Methyl-bis(2-chloroethyl)amine
N-Methyl-bis(beta-chloroethyl)amine
N-Methyl-bis-chloraethylamin
N-Methyl-bis-chloraethylamin [German]
N-Methyl-lost
N-Methyl-lost [German]
N-methyl-bis(2-chloroethyl)amine
NCGC00091835-02
NCGC00091835-03
NCGC00091835-04
NCGC00091835-05
NCI60_041682
NINDS_000759
NSC762
Nitol (*Hydrochloride*)
Nitrogen mustard
Nitrogen mustard (HN-2)
Nitrogranulogen
SPBio_000496
SPECTRUM1500375
Spectrum2_000448
Spectrum3_000484
Spectrum4_000924
Spectrum5_001702
Spectrum_000889
Stickstofflost (*Hydrochloride*)
Stickstofflost (ebewe)
T 1024
T-1024
TL 146
UNII-50D9XSG0VR
beta,Beta'-dichlorodiethyl-N-methylamine
beta,beta'-Dichlorodiethyl-N-methylamine
mechlorethamine
thyldiethylamine
β,β'-dichlorodiethyl-N-methylamine
4CitrateNutraceutical1063
5
CyanocobalaminNutraceutical23768-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
6Vitamin B12Nutraceutical237
7
MethylcobalaminNutraceutical23713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
8
Folic AcidNutraceutical414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
9
cobalaminNutraceutical23713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
10FolateNutraceutical4143

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionRecruitingNCT02744677Phase 3
2Conotruncal Cardiac Defects and Nutrigenetic EtiopathogenyCompletedNCT01460316
3Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
4Genes Causing Ebstein's AnomalyCompletedNCT00497705
5A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal DefectCompletedNCT02361008
6Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial SyndromeRecruitingNCT00005102
7"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"RecruitingNCT02503267
8Non-Invasive Chromosomal Evaluation of 22q11.2RecruitingNCT02541058
9Surgical Planning for Reconstruction of Complex Heart DefectsRecruitingNCT00972608
10National Congenital Heart Disease AuditRecruitingNCT02303535
11Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionRecruitingNCT02700100
12Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

Search NIH Clinical Center for Conotruncal Heart Malformations


Cochrane evidence based reviews: truncus arteriosus, persistent

Genetic Tests for Conotruncal Heart Malformations

About this section

Genetic tests related to Conotruncal Heart Malformations:

id Genetic test Affiliating Genes
1 Conotruncal Anomaly Face Syndrome25 23
2 Conotruncal Heart Malformations25
3 Double Outlet Right Ventricle25
4 Truncus Arteriosus25
5 Conotruncal Heart Malformations, Variable23 NKX2-5
6 Double-Outlet Right Ventricle23 GDF1

Anatomical Context for Conotruncal Heart Malformations

About this section

MalaCards organs/tissues related to Conotruncal Heart Malformations:

34
Heart, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Conotruncal Heart Malformations:
id TissueAnatomical CompartmentCell Relevance
1 Neural CrestCardiac Neural CrestCardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
2 Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
3 HeartOutflow TractNeural Crest Outflow Tract Cells Potential therapeutic candidate, affected by disease
4 HeartAorticopulmonary Septum  Affected by disease
5 HeartOutflow Tract Cushion  Affected by disease

Animal Models for Conotruncal Heart Malformations or affiliated genes

About this section

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

39 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.5GATA4, ISL1, NKX2-5, PITX2, TBX20, VANGL2
2MP:00053829.5CITED2, GDF1, ISL1, MEF2C, NKX2-5, PITX2
3MP:00053819.4CITED2, GATA4, GDF1, ISL1, PITX2, PLXND1
4MP:00053799.1CITED2, GATA4, GDF1, ISL1, NKX2-5, PITX2
5MP:00053908.9CITED2, GATA4, GDF1, ISL1, MEF2C, PITX2
6MP:00053698.9GATA4, GATA6, ISL1, MEF2A, MEF2C, NKX2-5
7MP:00053888.9CITED2, GATA4, GATA6, GDF1, MEF2A, MEF2C
8MP:00036318.7CITED2, GATA4, GDF1, ISL1, MEF2A, MEF2C
9MP:00053808.6CITED2, GATA4, GATA6, GDF1, ISL1, MEF2C
10MP:00053718.6CITED2, GATA4, GATA6, ISL1, MEF2C, PITX2
11MP:00053848.3CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
12MP:00107688.1CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
13MP:00028738.1CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
14MP:00053858.0CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
15MP:00053788.0CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A

Publications for Conotruncal Heart Malformations

About this section

Variations for Conotruncal Heart Malformations

About this section

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

68
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388rs387906813
2GDF1p.Cys267TyrVAR_065335rs121434423
3NKX2-6p.Phe151LeuVAR_063278rs267606914
4NKX2-6p.Lys152GlnVAR_073164
5NKX2-6p.Val176AlaVAR_073165
6TBX1p.Phe148TyrVAR_035025rs28939675
7ZFPM2p.Glu30GlyVAR_017942rs121908601
8ZFPM2p.Ile227ValVAR_072074rs202204708

Clinvar genetic disease variations for Conotruncal Heart Malformations:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NKX2-6NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs)insertionPathogenicrs587777422GRCh37Chr 8, 23560416: 23560417

Expression for genes affiliated with Conotruncal Heart Malformations

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

Pathways for genes affiliated with Conotruncal Heart Malformations

About this section

GO Terms for genes affiliated with Conotruncal Heart Malformations

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.8GATA6, MEF2A, NKX2-5, PITX2

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

(show top 50)    (show all 54)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:005501411.0NKX2-5, NKX2-6
2cardiac ventricle formationGO:000321110.9MEF2C, NKX2-5
3pulmonary myocardium developmentGO:000335010.9NKX2-5, PITX2
4right ventricular cardiac muscle tissue morphogenesisGO:000322110.9NKX2-5, ZFPM2
5ventricular cardiac myofibril assemblyGO:005500510.9MEF2A, NKX2-5
6intestinal epithelial cell differentiationGO:006057510.8GATA4, GATA6
7visceral motor neuron differentiationGO:002152410.8ISL1, TBX20
8embryonic heart tube left/right pattern formationGO:006097110.8CITED2, NKX2-5
9cardiac muscle tissue morphogenesisGO:005500810.8NKX2-5, TBX20
10pulmonary vein morphogenesisGO:006057710.8PITX2, TBX20
11positive regulation of cardioblast differentiationGO:005189110.8GATA4, GATA6, NKX2-5
12embryonic viscerocranium morphogenesisGO:004870310.8MEF2C, TBX1
13secondary heart field specificationGO:000313910.7ISL1, MEF2C
14transdifferentiationGO:006029010.7GATA4, MEF2C
15smooth muscle cell differentiationGO:005114510.7GATA6, MEF2C
16ventricular cardiac muscle cell developmentGO:005501510.7NKX2-5, NKX2-6, PITX2
17pharyngeal system developmentGO:006003710.6ISL1, NKX2-5, NKX2-6, TBX1
18cardiac ventricle morphogenesisGO:000320810.6GATA4, NKX2-5
19cell fate commitmentGO:004516510.6GATA4, GATA6, MEF2C
20left/right axis specificationGO:007098610.6CITED2, PITX2
21cell developmentGO:004846810.6GATA4, GATA6, GDF1
22endocardial cushion developmentGO:000319710.6CITED2, CRELD1, GATA4
23spleen developmentGO:004853610.6CITED2, NKX2-5, PITX2
24cardiac right ventricle morphogenesisGO:000321510.5GATA4, ISL1, TBX20
25embryonic heart tube developmentGO:003505010.5NKX2-5, NKX2-6, TBX20
26cardiac septum developmentGO:000327910.5CRELD1, PLXND1, TBX20
27heart morphogenesisGO:000300710.5ISL1, NKX2-5, TBX1
28positive regulation of male gonad developmentGO:200002010.5CITED2, ZFPM2
29cardiac muscle tissue developmentGO:004873810.5GATA6, NKX2-5, PITX2, ZFPM2
30ventricular septum morphogenesisGO:006041210.4CITED2, NKX2-5, PITX2, ZFPM2
31blood vessel developmentGO:000156810.4CITED2, MEF2C, TBX1
32positive regulation of cardiac muscle cell proliferationGO:006004510.4GATA6, MEF2C, TBX20, ZFPM2
33vasculogenesisGO:000157010.4CITED2, NKX2-5, PITX2, ZFPM2
34in utero embryonic developmentGO:000170110.4CITED2, GATA6, PITX2, ZFPM2
35patterning of blood vesselsGO:000156910.4PITX2, PLXND1, TBX20
36muscle organ developmentGO:000751710.3MEF2A, MEF2C, TBX1
37atrial septum morphogenesisGO:006041310.3GATA4, ISL1, NKX2-5, TBX20
38cardiac muscle cell differentiationGO:005500710.3GATA4, GATA6, MEF2C, NKX2-5, PITX2
39outflow tract septum morphogenesisGO:000314810.2GATA6, ISL1, NKX2-5, TBX1, TBX20, ZFPM2
40regulation of transcription from RNA polymerase II promoterGO:000635710.1CITED2, ISL1, NKX2-5, PITX2, TBX1
41male gonad developmentGO:000858410.1CITED2, GATA4, GATA6, PITX2
42determination of left/right symmetryGO:00073689.9CFC1, CITED2, PITX2, TBX1
43negative regulation of transcription, DNA-templatedGO:00458929.8CITED2, GATA6, NKX2-5, TBX20, ZFPM2
44heart loopingGO:00019479.8CITED2, GATA4, MEF2C, NKX2-5, TBX20, VANGL2
45outflow tract morphogenesisGO:00031519.8CITED2, ISL1, MEF2C, NKX2-5, PLXND1, TBX1
46transcription from RNA polymerase II promoterGO:00063669.3GATA4, GATA6, ISL1, MEF2A, MEF2C, NKX2-5
47positive regulation of transcription, DNA-templatedGO:00458939.1CITED2, GATA4, GATA6, MEF2A, MEF2C, NKX2-5
48heart developmentGO:00075079.1CITED2, ISL1, MEF2A, MEF2C, NKX2-5, NKX2-6
49negative regulation of transcription from RNA polymerase II promoterGO:00001228.7CITED2, GATA6, ISL1, MEF2A, MEF2C, NKX2-5
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.6CITED2, GATA4, GATA6, ISL1, MEF2A, MEF2C

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:000115810.8GATA4, ISL1
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.4GATA4, GATA6, NKX2-5
3transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.4GATA6, MEF2A, MEF2C, NKX2-5
4activating transcription factor bindingGO:003361310.3GATA4, MEF2A, MEF2C
5transcription regulatory region DNA bindingGO:004421210.2GATA4, GATA6, MEF2C, NKX2-5
6RNA polymerase II activating transcription factor bindingGO:000110210.2CITED2, ISL1, PITX2, TBX20
7RNA polymerase II transcription factor bindingGO:000108510.1GATA4, GATA6, MEF2A, TBX20, ZFPM2
8RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.0GATA4, GATA6, MEF2A, MEF2C, PITX2
9RNA polymerase II transcription coactivator activityGO:00011059.9CITED2, ISL1, MEF2A, PITX2, TBX20, ZFPM2
10RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.8GATA4, GATA6, MEF2A, MEF2C, TBX20
11transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.7ISL1, MEF2A, MEF2C, NKX2-5, PITX2, TBX20
12RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7ISL1, MEF2A, MEF2C, NKX2-5, PITX2, TBX20
13transcription factor bindingGO:00081349.6GATA4, GATA6, NKX2-5, PITX2, ZFPM2
14chromatin bindingGO:00036829.2CITED2, GATA4, GATA6, ISL1, MEF2A, MEF2C
15transcription factor activity, sequence-specific DNA bindingGO:00037009.1CITED2, GATA4, GATA6, MEF2A, MEF2C, NKX2-5
16sequence-specific DNA bindingGO:00435659.0GATA4, GATA6, ISL1, MEF2A, MEF2C, NKX2-5
17DNA bindingGO:00036778.4AHDC1, GATA4, GATA6, ISL1, MEF2A, MEF2C

Sources for Conotruncal Heart Malformations

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet