Disease #00152

Official abbreviation CHD
Name heart disease, congenital (CHD)
OMIM ID -
Inheritance -
Individuals reported having this disease 32
Phenotype entries for this disease 29
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00001385 - - Hypoplastic left heart syndrome with mitral atresia and aortic atresia. F - - African American - 0 - - CHD, HLHS-2 - FOXP1 FOXP1 1 1 Vidu Garg
00001386 - - Unbalanced atrioventricular septal defect with pulmonary atresia and single ventricle (heterotaxy) M - - hispanic - 0 - - AVSD, CHD - FOXP1 FOXP1 1 1 Vidu Garg
00019538 - - - M - - - - 0 - - CHD transposition of the great arteries (TGA), ventricular septal defect (VSD), coarctation of the aorta (CoA) SEMA3D SEMA3D 1 1 Marta Sanchez Castro
00019867 - - - F no Italy Caucasian >03y 0 - - CHD, ID Developmental delay, esotropia, Open foramen ovale MED13L MED13L 1 1 Giuseppe Marangi
00029030 - - - F no France European >12y 0 yes - CHD secundum atrial septal defect GATA4, NKX2-5, ZIC3 GATA4 1 1 Patrice Bouvagnet
00029031 - - - M no France European >28y 0 yes pace maker CHD secundum atrial septal defect prolonged PR interval Mobitz II atrioventricular block atrial fibrillation GATA4, NKX2-5, ZIC3 NKX2-5 1 2 Patrice Bouvagnet
00029033 - - - M no France European >10y 0 yes - CHD perimembranous ventricular septal defect first degree atrioventricular block GATA4, NKX2-5, ZIC3 NKX2-5 1 1 Patrice Bouvagnet
00029034 - - - F no France European >54y 0 yes - CHD secundum atrial septal defect third degree atrioventricular block GATA4, NKX2-5, ZIC3 NKX2-5 1 1 Patrice Bouvagnet
00029035 - - - M no France European >41y 0 yes - CHD, CMD, CMH secundum atrial septal defect, ventricular extrasystoles GATA4, HABP2, NKX2-5, ZIC3 NKX2-5 1 1 Patrice Bouvagnet
00029037 - - - F no France European >07y 0 yes - CHD secundum atrial septal defect Mobitz II atrioventricular block GATA4, NKX2-5, ZIC3 NKX2-5 1 1 Patrice Bouvagnet
00029038 - - - M no France European 00y00m 0 yes - CHD left superior vena cava draining to the coronary sinus common atrium complete atrioventricular septal defect pulmonic stenosis transposition of the great arteries with ventricular septal defect abdominal situs inversus right atrial isomerism pulmonary situs ambiguus with bilateral morphologic right lungs asplenia GATA4, NKX2-5, ZIC3 ZIC3 1 1 Patrice Bouvagnet
00029039 - - - M no France gypsy >14y 0 yes liver transplantation CHD interrupted vena cava with azygous continuation polysplenia abdominal situs inversus biliary atresia extrahepatic GATA4, NKX2-5, ZIC3 ZIC3 1 1 Patrice Bouvagnet
00029041 - - - M no France European >30y 0 yes - CHD pulmonary artery stenosis ELN, GATA4, NKX2-5, ZIC3 ELN 1 1 Patrice Bouvagnet
00029042 - - - F no France European >42y 0 yes - CHD hypoplastic aortic arch pulmonary artery stenosis ELN, GATA4, NKX2-5, ZIC3 ELN 1 1 Patrice Bouvagnet
00029043 - - - F no Portugal European >41y 0 yes - CHD pulmonary artery stenosis ELN, GATA4, NKX2-5, ZIC3 ELN 1 1 Patrice Bouvagnet
00029044 - - - M yes Algeria Maghreb >05y 0 yes - CHD pulmonary artery stenosis ELN, GATA4, NKX2-5, ZIC3 ELN 1 1 Patrice Bouvagnet
00032450 - - - M no Lebanon Lebanese >15y 0 yes - CHD Pulmonary valvar stenosis CLTCL1, HIC2, LZTR1, USP18 - 1 1 Patrice Bouvagnet
00032451 - - - M no Lebanon Lebanese >18y 0 yes - CHD - CLTCL1, HIC2, LZTR1, USP18 - 1 1 Patrice Bouvagnet
00032719 - - - M no Lebanon Lebanese 08y 0 - - CHD Atrial septal defect ostium secundum type Valvular aortic stenosis Pulmonary hypertension Hypertelorism Pectus excavatum ACTC1 ACTC1 1 1 Patrice Bouvagnet
00034442 - - registry CARREG at Necker Hospital, Paris, France, patient RECH003865 M yes ? (unknown) - >05y 0 yes - CHD - MMP21 MMP21 1 1 Patrice Bouvagnet
00034498 - - This patient has heterotaxy different from the ones in the diseases lists (another locus) The neonate died at 1 day of life F no France European 00y00m01d 0 y - CHD Interrupted inferior vena cava with azygous continuation, Partial anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Partial atrioventricular canal defect, Hypoplastic left heart, dextrocardia MMP21 MMP21 2 1 Patrice Bouvagnet
00034499 - - Heterotaxy not linked to any known gene yet M yes (France) North Africa >05y 0 yes - CHD interrupted inferior vena cava with azygous continuation, common atrium, common atrium, complete atrioventricular septal defect, transposition of the great arteries, pulmonary stenosis, peripheral pulmonary stenosis, intestinal malrotation, polysplenia MMP21 MMP21 1 1 Patrice Bouvagnet
00034500 - - - M no France carribean island 13y 0 yes - CHD Bilateral superior vena with bridging vein, interrupted inferior vena cava with azygos continuation, hepatic veins to bilateral atriums, mitral atresia, single ventricle Left pulmonary isomerism, left sided liver, right-sided stomach, polysplenia. MMP21 MMP21 2 1 Patrice Bouvagnet
00034501 - - Heterotaxy not linked to any known heterotaxy locus yet M yes Turkey Turkish ? 0 yes - CHD Commun atrium, complete atrioventricular canal defect, dextrocardia Abnormality of abdominal situs MMP21 MMP21 1 1 Patrice Bouvagnet
00034502 - - - M yes Turkey Turkish ? 0 yes - CHD Common atrium, complete atrioventricular canal defect, transposition of the great arteries with ventricular septal defect intestinal malrotation, midline liver MMP21 MMP21 1 1 Patrice Bouvagnet
00034503 - - heterotaxy not linked to any known heterotaxy locus yet F yes Turkey Turkish ? 0 - - CHD Congenitally corrected transposition of the great arteries with ventricular septal defect, pulmonic stenosis Abnormal abdominal situs MMP21 MMP21 1 1 Patrice Bouvagnet
00034504 - - - M yes Algeria North Africa >15y 0 yes - CHD Interrupted inferior vena cava with azygous continuation, partial anomalous pulmonary venous return, patent foramen ovale, inlet ventricular septal defect, perimembranous ventricular septal defect Abnormality of abdominal situs MMP21 MMP21 1 1 Patrice Bouvagnet
00037520 - - - M no Lebanon Maronite Lebanese 10y 0 yes - CHD secundum atrial septal defect, aortic valve stenosis, pectus excavatum, hypertelorism ACTC1 ACTC1 1 1 Patrice Bouvagnet
00043813 - - - F no Germany European >33y 0 - - CHD common atrium, dextrocardia CHRNB3, MMP21, SMAD6 MMP21 2 264 Patrice Bouvagnet
00043822 - - - M no (United States) Hispanic ? 0 - - CHD interrupted vena cava with azygous continuation, transposition of the great arteries, double outlet right ventricle, valvar pulmonary stenosis, dextrocardia - MMP21 2 1 Patrice Bouvagnet
00121860 - - - F yes Lebanon Lebanon - 0 - - CHD - CSRP1, TRPS1 CSRP1, TRPS1 2 4 Georges Nemer
00264087 FamSH1190831 PubMed: Razmara 2018 3-generation family, 2 affected (F, M) and 1 asymptomatic heterozygous carrier F;M - Iran - - 0 - - CHD see paper; ..., familial history atrial septal defect (HP:0001631), thyroglossal sinus, refractive errors eye, mitral stenosis (HP:0001718) MYH6 MYH6 1 1 Ehsan Razmara
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