MCID: CNT061
MIFTS: 59

Conotruncal Heart Malformations malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Conotruncal Heart Malformations

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 49 45 24 65 67
Conotruncal Anomaly Face Syndrome 49 11 22 24 65 67
Double Outlet Right Ventricle 10 45 22 12 51 36
Persistent Truncus Arteriosus 49 32 45 67
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 10 51
Conotruncal Heart Malformations, Variable 49 22
Double-Outlet Right Ventricle 49 67
Taussig-Bing Syndrome 10 51
Cthm 45 67
Dorv 51 67
Double Outlet Right Ventricle with Transposition of the Great Arteries 51
Double Outlet Right Ventricle, Unspecified 10
Dorv, Truncus Arteriosus Communis 22
 
Double Outlet Right Ventricle Nos 10
Dextrotransposition of Aorta 10
Conotruncal Cardiac Defects 45
Truncus Arteriosus Communis 67
Dorv with Subpulmonary Vsd 51
Conotruncal Heart Defects 67
Common Arterial Trunk 67
Dorv-Tga 51
Cafs 67
Ctaf 22
Cthd 67
Tac 67
Pta 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
double outlet right ventricle:
Prevalence: 1-5/10000 (Germany); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 217095
Disease Ontology10 DOID:6406
ICD9CM29 745.11
Orphanet51 3426, 99045
ICD10 via Orphanet28 Q20.1
MESH via Orphanet37 D004310
UMLS via Orphanet66 C0013069
ICD1027 Q20.1

Summaries for Conotruncal Heart Malformations

About this section
UniProtKB/Swiss-Prot:67 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 velocardiofacial syndrome and tetralogy of fallot, 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 SRF and miRs in Smooth Muscle Differentiation and Proliferation. Affiliated tissues include heart, and related mouse phenotypes are liver/biliary system and no phenotypic analysis.

Description from OMIM:49 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 486)
idRelated DiseaseScoreTop Affiliating Genes
1velocardiofacial syndrome31.3CTHM, DGCR, GDF1, TBX1
2tetralogy of fallot31.0CITED2, CRELD1, CTHM, DGCR, GATA4, GATA6
3pulmonary valve stenosis30.7CRELD1, GATA4, GATA6, NKX2-6
4pupil disease30.1CRELD1, GATA4, NKX2-6
5ventricular septal defect11.2
6transposition of the great arteries11.0
7pulmonic stenosis10.8
8atrioventricular septal defect10.8
9dextrocardia10.8
10complete atrioventricular canal10.8
11sacral meningocele conotruncal heart defects10.7
12aortopulmonary window10.7
13pentalogy of cantrell10.7
14double outlet right ventricle with subaortic or doubly commited ventricular septal defect with pulmonary stenosis10.7
15situs inversus10.6
16cor triatriatum10.6
17left ventricular outflow tract obstruction10.6
18aneurysm10.6
19double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.6
20peripheral vascular disease10.6
21congenital heart disease10.6
22heterotaxy10.6
23truncus arteriosus10.6
24double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy10.6
25erythema multiforme10.6
26peripheral artery disease10.5
27arteriosclerosis10.5
28atherosclerosis10.5
29artery disease10.5
30mitral atresia10.5
31criss-cross heart10.5
32vascular disease10.5
33cfc1-related conotruncal heart malformations10.5
34coats disease10.4
35ischemia10.4
36critical limb ischemia10.4
37limb ischemia10.4
38leukemia10.4
39breast cancer10.4
40li-fraumeni syndrome10.4
41breast disease10.4
42hypoparathyroidism10.4
43hepatocellular carcinoma10.4
44intermittent claudication10.4
45hematologic cancer10.3
46transposition of the great arteries, dextro-looped 210.3
47charge syndrome10.3
48ritscher-schinzel syndrome10.3
49phenylketonuria10.3
50holt-oram syndrome10.3

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 15)
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 autosomal recessive inheritance HP:0000007
8 truncus arteriosus HP:0001660
9 transposition of the great arteries HP:0001669
10 complete atrioventricular canal defect HP:0001674
11 coarctation of aorta HP:0001680
12 double outlet right ventricle HP:0001719
13 abnormality of metabolism/homeostasis HP:0001939
14 broad hallux HP:0010055
15 postaxial polydactyly HP:0100259

Drugs & Therapeutics for Conotruncal Heart Malformations

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydroxocobalaminapproved21713422-51-011953898, 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 monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
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
Mechlorethamineapproved41051-75-24033
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
Mechlorethamine hydrochloride
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
Valchlor
beta,Beta'-dichlorodiethyl-N-methylamine
beta,beta'-Dichlorodiethyl-N-methylamine
mechlorethamine
thyldiethylamine
β,β'-dichlorodiethyl-N-methylamine
3
Cyanocobalaminapproved, nutraceutical21768-19-944176380, 44176380, 5462245
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
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, nutraceutical285159-30-36037
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
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
5Vitamin B 12224
6Calcium, Dietary3529
7Vitamin B Complex2775
8Antithrombin III259
9Antithrombins268
10
Citric Acidnutraceutical78477-92-9311
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
11FolateNutraceutical2851
12CitrateNutraceutical784
13Folinic AcidNutraceutical2498
14
CobalaminNutraceutical21713408-78-16438156
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
15Vitamin B12Nutraceutical217
16Vitamin B9Nutraceutical2851
17
MethylcobalaminNutraceutical21713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz

Interventional clinical trials:

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

Search NIH Clinical Center for Conotruncal Heart Malformations


Cochrane evidence based reviews: Double Outlet Right Ventricle

Genetic Tests for Conotruncal Heart Malformations

About this section

Genetic tests related to Conotruncal Heart Malformations:

id Genetic test Affiliating Genes
1 Conotruncal Heart Malformations, Variable22 NKX2-5
2 Double-Outlet Right Ventricle22 GDF1
3 Conotruncal Anomaly Face Syndrome22 24
4 Conotruncal Heart Malformations24

Anatomical Context for Conotruncal Heart Malformations

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MalaCards organs/tissues related to Conotruncal Heart Malformations:

33
Heart

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

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MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7CFC1, GATA4, GATA6, GDF1, PITX2, ZFPM2
2MP:00030129.6GATA4, ISL1, NKX2-5, PITX2, TBX20, VANGL2
3MP:00053719.5CITED2, GATA6, ISL1, MEF2C, PITX2, TBX1
4MP:00053829.4CITED2, GDF1, ISL1, MEF2C, NKX2-5, PITX2
5MP:00053819.3CFC1, CITED2, GATA4, GDF1, ISL1, PITX2
6MP:00053909.2CFC1, CITED2, GATA4, GDF1, ISL1, MEF2C
7MP:00053699.2GATA4, GATA6, ISL1, MEF2C, NKX2-5, PITX2
8MP:00053848.8CITED2, GATA4, GATA6, GDF1, ISL1, MEF2C
9MP:00053978.7CFC1, CITED2, GATA4, GATA6, GDF1, MEF2C
10MP:00028738.6CITED2, GATA4, GATA6, GDF1, ISL1, MEF2C
11MP:00053808.4CFC1, CITED2, GATA4, GATA6, GDF1, ISL1
12MP:00053858.2CFC1, CITED2, GATA4, GATA6, GDF1, ISL1
13MP:00053888.1CFC1, CITED2, GATA4, GATA6, GDF1, MEF2C
14MP:00053788.1CFC1, CITED2, GATA4, GATA6, GDF1, ISL1
15MP:00107688.1CFC1, CITED2, GATA4, GATA6, GDF1, ISL1

Publications for Conotruncal Heart Malformations

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Variations for Conotruncal Heart Malformations

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

67
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4NKX2-6p.Lys152GlnVAR_073164
5NKX2-6p.Val176AlaVAR_073165
6TBX1p.Phe148TyrVAR_035025rs28939675
7ZFPM2p.Glu30GlyVAR_017942rs121908601
8ZFPM2p.Ile227ValVAR_072074

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

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

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:005501411.0NKX2-5, NKX2-6
2right ventricular cardiac muscle tissue morphogenesisGO:000322111.0NKX2-5, ZFPM2
3embryonic heart tube left/right pattern formationGO:006097110.9CITED2, NKX2-5
4cellular response to gonadotropin stimulusGO:007137110.9GATA4, GATA6
5cardiac ventricle morphogenesisGO:000320810.9GATA4, NKX2-5
6regulation of cardiac muscle cell proliferationGO:006004310.9GATA4, NKX2-5
7ventricular cardiac muscle cell developmentGO:005501510.8NKX2-5, NKX2-6
8cardiac ventricle formationGO:000321110.8MEF2C, NKX2-5
9secondary heart field specificationGO:000313910.8ISL1, MEF2C
10visceral motor neuron differentiationGO:002152410.8ISL1, TBX20
11tube morphogenesisGO:003523910.7GATA4, GATA6
12cardiac muscle tissue morphogenesisGO:005500810.7NKX2-5, TBX20
13intestinal epithelial cell differentiationGO:006057510.7GATA4, GATA6
14positive regulation of cardioblast differentiationGO:005189110.7GATA4, GATA6, NKX2-5
15endocardial cushion morphogenesisGO:000320310.7ISL1, TBX20
16ventricular septum morphogenesisGO:006041210.7CITED2, NKX2-5, ZFPM2
17embryonic viscerocranium morphogenesisGO:004870310.7MEF2C, TBX1
18spleen developmentGO:004853610.6CITED2, NKX2-5, PITX2
19pharyngeal system developmentGO:006003710.6ISL1, NKX2-5, NKX2-6, TBX1
20cardiac right ventricle morphogenesisGO:000321510.6GATA4, ISL1, TBX20
21vasculogenesisGO:000157010.6CITED2, NKX2-5, ZFPM2
22cardiac muscle tissue developmentGO:004873810.5GATA4, GATA6, NKX2-5, ZFPM2
23cell fate commitmentGO:004516510.5GATA4, GATA6, MEF2C
24cardiac muscle hypertrophy in response to stressGO:001489810.5GATA4, GATA6, MEF2C
25embryonic heart tube developmentGO:003505010.5GATA4, NKX2-5, NKX2-6, TBX20
26cell developmentGO:004846810.5GATA4, GATA6, GDF1
27endocardial cushion developmentGO:000319710.5CITED2, CRELD1, GATA4
28cardiac septum developmentGO:000327910.4CRELD1, GATA4, TBX20
29positive regulation of cardiac muscle cell proliferationGO:006004510.4GATA4, GATA6, MEF2C, TBX20
30cardiac muscle cell differentiationGO:005500710.4GATA4, GATA6, MEF2C, NKX2-5
31BMP signaling pathwayGO:003050910.4GATA4, GDF1, NKX2-5
32response to estrogenGO:004362710.3CITED2, GATA4, GATA6
33in utero embryonic developmentGO:000170110.3CITED2, GATA4, GATA6, ZFPM2
34outflow tract septum morphogenesisGO:000314810.2GATA6, ISL1, NKX2-5, TBX1, TBX20, ZFPM2
35atrial septum morphogenesisGO:006041310.2GATA4, ISL1, NKX2-5, TBX20
36blood vessel developmentGO:000156810.2CITED2, MEF2C, TBX1
37positive regulation of male gonad developmentGO:200002010.2CITED2, ZFPM2
38cell differentiationGO:003015410.1CITED2, NKX2-5, NKX2-6, ZFPM2, ZIC3
39heart morphogenesisGO:000300710.1GATA4, ISL1, NKX2-5, TBX1
40determination of left/right symmetryGO:00073689.9CFC1, CITED2, PITX2, TBX1, ZIC3
41regulation of transcription from RNA polymerase II promoterGO:00063579.8CITED2, GATA4, NKX2-5, PITX2, TBX1
42outflow tract morphogenesisGO:00031519.8CITED2, ISL1, MEF2C, NKX2-5, TBX1, TBX20
43heart loopingGO:00019479.8CITED2, GATA4, MEF2C, NKX2-5, TBX20, VANGL2
44male gonad developmentGO:00085849.7CITED2, GATA4, GATA6, PITX2
45heart developmentGO:00075079.4CITED2, GATA4, ISL1, MEF2C, NKX2-5, NKX2-6
46positive regulation of transcription, DNA-templatedGO:00458939.4CITED2, GATA4, GATA6, MEF2C, NKX2-5, TBX1
47negative regulation of transcription from RNA polymerase II promoterGO:00001229.2CITED2, GATA6, ISL1, MEF2C, NKX2-5, PITX2
48transcription from RNA polymerase II promoterGO:00063669.1GATA4, GATA6, ISL1, MEF2C, NKX2-5, PITX2
49regulation of transcription, DNA-templatedGO:00063558.9CITED2, GATA4, GATA6, ISL1, MEF2C, NKX2-5
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.3CITED2, GATA4, GATA6, ISL1, MEF2C, NKX2-5

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:000115810.7GATA4, ISL1
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.4GATA4, GATA6, MEF2C, NKX2-5
3RNA polymerase II activating transcription factor bindingGO:000110210.3CITED2, ISL1, PITX2, TBX20
4RNA polymerase II transcription factor bindingGO:000108510.2GATA4, GATA6, PITX2, TBX20, ZFPM2
5transcription regulatory region DNA bindingGO:004421210.2GATA4, GATA6, MEF2C, NKX2-5
6RNA polymerase II transcription coactivator activityGO:000110510.2CITED2, ISL1, PITX2, TBX20, ZFPM2
7activating transcription factor bindingGO:003361310.2GATA4, MEF2C
8transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.0GATA4, GATA6, NKX2-5
9transcription factor bindingGO:00081349.9GATA4, GATA6, NKX2-5, PITX2, ZFPM2
10transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.9ISL1, MEF2C, NKX2-5, PITX2, TBX20, ZIC3
11RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.9GATA4, ISL1, NKX2-5, PITX2, TBX20, ZIC3
12RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.8GATA4, GATA6, MEF2C, TBX20
13chromatin bindingGO:00036829.3CITED2, GATA4, GATA6, ISL1, MEF2C, NKX2-5
14sequence-specific DNA bindingGO:00435659.0GATA4, GATA6, ISL1, MEF2C, NKX2-5, NKX2-6
15DNA bindingGO:00036778.8AHDC1, GATA4, GATA6, ISL1, MEF2C, NKX2-5
16transcription factor activity, sequence-specific DNA bindingGO:00037008.5CITED2, GATA4, GATA6, MEF2C, NKX2-5, NKX2-6

Sources for Conotruncal Heart Malformations

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet