MCID: CNT061
MIFTS: 62

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:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 52 48 70 27 68
Conotruncal Anomaly Face Syndrome 52 24 70 27 12 68
Double Outlet Right Ventricle 11 48 54 27 39 13
Persistent Truncus Arteriosus 52 35 48 70
Double-Outlet Right Ventricle 52 24 70
Tac 54 70 2
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 11 54
Conotruncal Heart Malformations, Variable 52 24
Common Arterial Trunk 54 70
Truncus Arteriosus 54 27
Dorv 54 70
Cthm 48 70
Double Outlet Right Ventricle with Transposition of the Great Arteries 54
Double Outlet Right Ventricle, Unspecified 11
Double Outlet Right Ventricle Nos 11
 
Dorv, Truncus Arteriosus Communis 24
Taussig-Bing Syndrome or Defect 11
Truncus Arteriosus, Persistent 39
Common Aortico-Pulmonary Trunk 54
Dextrotransposition of Aorta 11
Truncus Arteriosus Communis 70
Conotruncal Cardiac Defects 48
Dorv with Subpulmonary Vsd 54
Conotruncal Heart Defects 70
Taussig-Bing Syndrome 54
Dorv-Tga 54
Cthd 70
Cafs 70
Ctaf 24
Pta 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
conotruncal heart malformations:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 217095
Disease Ontology11 DOID:6406
ICD9CM32 745.11
NCIt45 C98916
ICD10 via Orphanet31 Q20.0, Q20.1
UMLS via Orphanet69 C0013069
MESH via Orphanet40 D004310

Summaries for Conotruncal Heart Malformations

About this section
UniProtKB/Swiss-Prot:70 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 GDF1 (Growth Differentiation Factor 1), and among its related pathways are HOP Signaling and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, skin and bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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:52 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 132)
idRelated DiseaseScoreTop Affiliating Genes
1double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis12.5
2double outlet right ventricle with non-committed subpulmonary ventricular septal defect12.5
3double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy12.3
4sacral meningocele conotruncal heart defects12.2
5cfc1-related conotruncal heart malformations12.1
6velocardiofacial syndrome11.7
7cor triatriatum11.6
8digeorge syndrome11.4
9beemer ertbruggen syndrome11.3
10microphthalmia microtia fetal akinesia11.1
11factor xi deficiency, autosomal recessive11.1
12pancreatic agenesis and congenital heart defects11.1
13emanuel syndrome10.9
14ventricular septal defect10.8
15undifferentiated carcinoma of the corpus uteri10.6CFC1, GDF1
16univentricular heart with single atrio-ventricular valve10.6CRELD1, GATA4
17azygos continuation of the inferior vena cava10.6CRELD1, GATA4
18straddling and/or overriding mitral valve10.5CRELD1, GATA4, GATA6
19transposition of the great arteries10.5
20drug-induced vasculitis10.5GATA4, ZFPM2
21cervical adenoid basal carcinoma10.5CRELD1, GATA4, NKX2-6
22suppurative cholangitis10.5GDF1, NKX2-6
23partial duplication of the short arm of chromosome x10.5CRELD1, GATA4, GATA6
24tetralogy of fallot10.5
25huriez syndrome10.4CRELD1, NKX2-6
26pericardium disease10.4CRELD1, GATA6, GDF1, NKX2-6
27pituitary adenoma10.4GATA4, GATA6, ZFPM2
28pancreatic serous cystadenocarcinoma10.4CRELD1, GATA4, GATA6, NKX2-6
29pulmonic stenosis10.4
30complete atrioventricular canal10.3
31atrioventricular septal defect10.3
32dextrocardia10.3
33macroglossia10.3CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
34cataract 17, multiple types10.3GDF1, NKX2-6, TBX1
35aortopulmonary window10.2
36pentalogy of cantrell10.2
376-phosphogluconate dehydrogenase deficiency10.2CITED2, GATA4, GATA5, NKX2-5, NKX2-6
38fetal alcohol syndrome10.2CRELD1, GATA4, GATA6, GDF1, NKX2-5, NKX2-6
39left ventricular outflow tract obstruction10.2
40aneurysm10.2
41ectopia cordis10.2
42heart disease10.1
43heterotaxy10.1
44viral hepatitis10.1CRELD1, GATA4, GDF1, NKX2-5, NKX2-6, TBX20
45photokeratitis10.1CITED2, GATA4, GATA6, NKX2-5, NKX2-6, TBX20
46axial osteomalacia10.1MEF2A, MEF2C
47mitral atresia10.0
48criss-cross heart10.0
49pyelonephritis10.0CFC1, GATA4, GATA5, MEF2A, NKX2-5, NKX2-6
50leukemia9.9

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



Diseases related to conotruncal heart malformations

Symptoms & Phenotypes for Conotruncal Heart Malformations

About this section

Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

Human phenotypes related to Conotruncal Heart Malformations:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 tetralogy of fallot64 hallmark (90%) HP:0001636
2 transposition of the great arteries64 hallmark (90%) HP:0001669
3 patent ductus arteriosus64 typical (50%) HP:0001643
4 abnormality of the aorta64 typical (50%) HP:0001679
5 abnormality of the pulmonary artery64 typical (50%) HP:0004414
6 hypertelorism64 rare (5%) HP:0000316
7 truncus arteriosus64 HP:0001660
8 complete atrioventricular canal defect64 HP:0001674
9 coarctation of aorta64 HP:0001680
10 double outlet right ventricle64 HP:0001719
11 abnormality of metabolism/homeostasis64 HP:0001939
12 broad hallux64 HP:0010055
13 postaxial polydactyly64 HP:0100259

MGI Mouse Phenotypes related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.0CITED2, GDF1, ISL1, MEF2C, NKX2-5, PITX2
2MP:00053719.9CITED2, GATA4, GATA6, ISL1, MEF2C, PITX2
3MP:00053819.9CITED2, GATA4, GATA5, GDF1, ISL1, PITX2
4MP:00053679.8CITED2, GATA5, GDF1, ISL1, MEF2C, PLXND1
5MP:00053799.6CITED2, GATA4, GATA5, GDF1, ISL1, NKX2-5
6MP:00053809.2CITED2, GATA4, GATA6, GDF1, ISL1, MEF2C
7MP:00036319.2CITED2, GATA4, GDF1, ISL1, MEF2A, MEF2C
8MP:00053769.2CITED2, GATA4, GATA5, GATA6, ISL1, NKX2-5
9MP:00053889.1CITED2, GATA4, GATA6, GDF1, MEF2A, MEF2C
10MP:00053699.0GATA4, GATA5, GATA6, ISL1, MEF2A, MEF2C
11MP:00028738.8CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
12MP:00053788.7CITED2, GATA4, GATA6, GDF1, ISL1, MEF2A
13MP:00053858.6CITED2, GATA4, GATA5, GATA6, GDF1, ISL1
14MP:00053848.6CITED2, GATA4, GATA5, GATA6, GDF1, ISL1
15MP:00053908.5CITED2, GATA4, GATA5, GDF1, ISL1, MEF2C
16MP:00107688.3CITED2, GATA4, GATA5, GATA6, GDF1, ISL1

Drugs & Therapeutics for Conotruncal Heart Malformations

About this section

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydroxocobalaminapproved24813422-51-011953898, 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
2
Mechlorethamineapproved37751-75-24033
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
3
Cyanocobalaminapproved, nutraceutical24968-19-944176380
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
4
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
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
5Bone Density Conservation Agents3266
6Anticoagulants2516
7Chelating Agents1365
8Hormones13979
9Calcium, Dietary5525
10Vitamin B 12249
11Vitamin B Complex4229
12Antithrombins672
13Antithrombin III665
14CitrateNutraceutical1106
15
Citric Acidnutraceutical, vet_approved110677-92-9311
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
16Vitamin B9Nutraceutical4279
17FolateNutraceutical4279
18Folinic AcidNutraceutical3150
19
Methylcobalaminexperimental, Nutraceutical24813422-55-4
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
20Vitamin B12Nutraceutical249
21
CobalaminNutraceutical24913408-78-16438156
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

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionRecruitingNCT02744677Phase 3
2Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial SyndromeUnknown statusNCT00005102
3Conotruncal Cardiac Defects and Nutrigenetic EtiopathogenyCompletedNCT01460316
4Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
5A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal DefectCompletedNCT02361008
6Genes Causing Ebstein's AnomalyCompletedNCT00497705
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 ReconstructionActive, not recruitingNCT02700100
12Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility StudyNot yet recruitingNCT03022708
13Adult 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

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Genetic tests related to Conotruncal Heart Malformations:

id Genetic test Affiliating Genes
1 Conotruncal Anomaly Face Syndrome27 24
2 Conotruncal Heart Malformations27
3 Double Outlet Right Ventricle27
4 Truncus Arteriosus27
5 Conotruncal Heart Malformations, Variable24 NKX2-5
6 Double-Outlet Right Ventricle24 GDF1

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

36
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:
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

Publications for Conotruncal Heart Malformations

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Articles related to Conotruncal Heart Malformations:

idTitleAuthorsYear
1
Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations? (27751200)
2016

Variations for Conotruncal Heart Malformations

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

70
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
2NKX2-5NKX2-5, 3-BP DEL, 871AACdeletionPathogenicChr na, -1: -1
3ZFPM2NM_012082.3(ZFPM2): c.681T> G (p.Ile227Met)SNVPathogenicrs397514520GRCh37Chr 8, 106801094: 106801094
4ZFPM2NM_012082.3(ZFPM2): c.2209A> G (p.Lys737Glu)SNVPathogenicrs397514521GRCh37Chr 8, 106814519: 106814519
5ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)SNVPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
6ZFPM2NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)SNVPathogenicrs121908603GRCh37Chr 8, 106814417: 106814417
7GDF1NM_001492.5(GDF1): c.800G> A (p.Cys267Tyr)SNVPathogenicrs121434423GRCh37Chr 19, 18979725: 18979725

Expression for genes affiliated with Conotruncal Heart Malformations

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

Pathways for genes affiliated with Conotruncal Heart Malformations

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GO Terms for genes affiliated with Conotruncal Heart Malformations

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.5GATA5, GATA6, MEF2A, NKX2-5, PITX2
2nucleusGO:00056348.3CITED2, GATA4, GATA5, GATA6, ISL1, MEF2A

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

(show top 50)    (show all 56)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:005501411.0NKX2-5, NKX2-6
2embryonic heart tube left/right pattern formationGO:006097111.0CITED2, NKX2-5
3cardiac ventricle morphogenesisGO:000320811.0GATA4, NKX2-5
4positive regulation of male gonad developmentGO:200002010.9CITED2, ZFPM2
5cardiac ventricle formationGO:000321110.9MEF2C, NKX2-5
6embryonic viscerocranium morphogenesisGO:004870310.9MEF2C, TBX1
7cardiac muscle hypertrophy in response to stressGO:001489810.9GATA6, MEF2C
8pulmonary myocardium developmentGO:000335010.9NKX2-5, PITX2
9cardiac muscle tissue morphogenesisGO:005500810.9NKX2-5, TBX20
10left/right axis specificationGO:007098610.9CITED2, PITX2
11right ventricular cardiac muscle tissue morphogenesisGO:000322110.9NKX2-5, ZFPM2
12endocardial cushion morphogenesisGO:000320310.9ISL1, TBX20
13anatomical structure formation involved in morphogenesisGO:004864610.8GATA4, GATA5
14pulmonary vein morphogenesisGO:006057710.8PITX2, TBX20
15heart morphogenesisGO:000300710.8ISL1, NKX2-5, TBX1
16positive regulation of cardioblast differentiationGO:005189110.8GATA4, GATA6, NKX2-5
17smooth muscle cell differentiationGO:005114510.8GATA6, MEF2C
18embryonic heart tube developmentGO:003505010.8NKX2-5, NKX2-6, TBX20
19endocardial cushion developmentGO:000319710.8CITED2, CRELD1, GATA4
20blood vessel developmentGO:000156810.7CITED2, MEF2C, TBX1
21positive regulation of angiogenesisGO:004576610.7GATA4, GATA6, ISL1
22secondary heart field specificationGO:000313910.7ISL1, MEF2C
23cardiac septum developmentGO:000327910.7CRELD1, PLXND1, TBX20
24muscle organ developmentGO:000751710.7MEF2A, MEF2C, TBX1
25intestinal epithelial cell differentiationGO:006057510.7GATA4, GATA5, GATA6
26cardiac right ventricle morphogenesisGO:000321510.7GATA4, ISL1, TBX20
27pharyngeal system developmentGO:006003710.7ISL1, NKX2-5, NKX2-6, TBX1
28cardiac muscle tissue developmentGO:004873810.6GATA6, NKX2-5, PITX2, ZFPM2
29spleen developmentGO:004853610.6CITED2, NKX2-5, PITX2
30neuron migrationGO:000176410.6MEF2C, PITX2, TBX20
31determination of left/right symmetryGO:000736810.6CFC1, CITED2, PITX2, TBX1
32transdifferentiationGO:006029010.6GATA4, MEF2C
33in utero embryonic developmentGO:000170110.6CITED2, GATA6, PITX2, ZFPM2
34male gonad developmentGO:000858410.6CITED2, GATA4, GATA6, PITX2
35cell developmentGO:004846810.6GATA4, GATA5, GATA6, GDF1
36blood coagulationGO:000759610.5GATA4, GATA5, GATA6, ZFPM2
37atrial septum morphogenesisGO:006041310.5GATA4, ISL1, NKX2-5, TBX20
38ventricular cardiac myofibril assemblyGO:005500510.5MEF2A, NKX2-5
39positive regulation of cardiac muscle cell proliferationGO:006004510.5GATA6, MEF2C, TBX20, ZFPM2
40cell fate commitmentGO:004516510.5GATA4, GATA5, GATA6, MEF2C
41ventricular cardiac muscle cell developmentGO:005501510.4NKX2-5, NKX2-6, PITX2
42negative regulation of transcription, DNA-templatedGO:004589210.4CITED2, GATA6, NKX2-5, TBX20, ZFPM2
43cardiac muscle cell differentiationGO:005500710.4GATA4, GATA6, MEF2C, NKX2-5, PITX2
44regulation of transcription from RNA polymerase II promoterGO:000635710.4CITED2, ISL1, NKX2-5, PITX2, TBX1
45heart loopingGO:000194710.3CITED2, GATA4, MEF2C, NKX2-5, TBX20
46vasculogenesisGO:000157010.2CITED2, NKX2-5, PITX2, ZFPM2
47outflow tract septum morphogenesisGO:000314810.2GATA6, ISL1, NKX2-5, TBX1, TBX20, ZFPM2
48visceral motor neuron differentiationGO:002152410.0ISL1, TBX20
49outflow tract morphogenesisGO:000315110.0CITED2, ISL1, MEF2C, NKX2-5, PLXND1, TBX1
50ventricular septum morphogenesisGO:00604129.8CITED2, NKX2-5, PITX2, ZFPM2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1activating transcription factor bindingGO:003361310.6GATA4, MEF2A, MEF2C
2enhancer sequence-specific DNA bindingGO:000115810.6GATA4, GATA5, ISL1
3RNA polymerase II activating transcription factor bindingGO:000110210.4CITED2, ISL1, PITX2, TBX20
4transcription factor bindingGO:000813410.3GATA4, GATA6, NKX2-5, PITX2, ZFPM2
5RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.2GATA4, GATA6, MEF2A, MEF2C, PITX2
6transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.2GATA5, GATA6, MEF2A, MEF2C, NKX2-5
7transcription regulatory region DNA bindingGO:004421210.1GATA4, GATA5, GATA6, MEF2C, NKX2-5
8RNA polymerase II transcription coactivator activityGO:000110510.0CITED2, ISL1, MEF2A, PITX2, TBX20, ZFPM2
9RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:000097810.0ISL1, MEF2A, MEF2C, NKX2-5, PITX2, TBX20
10RNA polymerase II transcription factor bindingGO:000108510.0GATA4, GATA5, GATA6, MEF2A, TBX20, ZFPM2
11RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.9GATA4, GATA5, GATA6, MEF2A, MEF2C, TBX20
12transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.8ISL1, MEF2A, MEF2C, NKX2-5, PITX2, TBX20
13transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.7GATA4, GATA5, GATA6, NKX2-5
14chromatin bindingGO:00036829.5CITED2, GATA4, GATA5, GATA6, ISL1, MEF2A
15sequence-specific DNA bindingGO:00435659.3GATA4, GATA6, ISL1, MEF2A, MEF2C, NKX2-5
16transcription factor activity, sequence-specific DNA bindingGO:00037009.1CITED2, GATA4, GATA5, GATA6, MEF2A, MEF2C
17DNA bindingGO:00036779.0AHDC1, GATA4, GATA5, GATA6, ISL1, MEF2A

Sources for Conotruncal Heart Malformations

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet