Disease #00152 (CHD (heart disease, congenital (CHD)))

Official abbreviation CHD
Name heart disease, congenital (CHD)
OMIM ID -
Inheritance -
Individuals reported having this disease 68
Phenotype entries for this disease 64
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

68 entries on 1 page. Showing entries 1 - 68.
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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
00001478 - - - F ? ? (unknown) - - 0 - - CHD, IP-2 - IKBKG IKBKG 1 1 Francesca Fusco
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 - PubMed: Cafiero 2015, Journal: Cafiero 2015 - F no Italy Caucasian >03y 0 - - CHD, ID brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, synophrys, epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no motor delay; no severe speech impairment; no hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly, 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 Pulmonary valvar stenosis 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
00266970 - PubMed: Tong 2016 - - - - - - 0 - - CHD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267013 - ClinVar - - - - - - 0 - - CHD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00300267 Patrice BOUVAGNET Submitted to Human Mutation - F yes (France) - 00y 0 no - CHD LSVC, large coronary sinus, posterior VSD, pulmonary atresia, right aortic arch, Right: 4 lobes, left: 5 lobes, asplenia, intestinal malrotation - NEK8 1 1 Patrice Bouvagnet
00300268 Pt5521 Submitted to Human Mutation - F no France - 00y 0 - - CHD, HLHS Hypoplastic mitral valve, hypoplastic left ventricle, hypoplastic aorta HP:0004383 - TAB2 1 4 Patrice Bouvagnet
00300273 Pt6402 Submitted to Human Mutation - M no France - 00y 0 - - CHD, HTX Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVventriculo canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVentricular canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch - ZIC3 1 2 Patrice Bouvagnet
00300274 Pt7146 Submitted to Human Mutation - F no France - 00y 0 - - CHD Muscular Ventricular Septal Defect, Hypoplastic Left Ventricle, Pulmonary Atresia, L-Transposition of the Great Arteries ZIC3 ZIC3 1 1 Patrice Bouvagnet
00300275 Pt7129 Submitted to Human Mutation - M no France - 00y 0 - - CHD, HTX Complete AtrioVentricular canal, double outlet right ventricle, pulmonary trunk hypoplasia, Dextrocardia; stomach on the right; gall bladder of the left, Dextrocardia; stomach on the right; gall bladder of the left; Complete AtrioVentriculo canal, double outlet right ventricle, pulmonary trunk hypoplasia - ZIC3 1 2 Patrice Bouvagnet
00300276 Pt7883 Submitted to Human Mutation - M no France - 00y01m? 0 - - CHD, HTX - ZIC3 ZIC3 1 1 Patrice Bouvagnet
00300277 Pt7479 Submitted to Human Mutation - M no France - 00y 0 - - CHD, HTX , Partial anomalous pulmonary vein return, Ventricular Septal Defect, hypoplastic left ventricle, double outlet right ventricle, TGA, peripheral pulmonary artery stenosis, situs ambiguus, Asplenia, right stomach - GDF1 1 2 Patrice Bouvagnet
00300278 Pt7480 Submitted to Human Mutation - F no - - 00y 0 - - CHD Common atrium, partial atrioventricular canal, transposition of the great arteries, pulmonary atresia GDF1 GDF1 1 1 Patrice Bouvagnet
00300279 Pt7121 Submitted to Human Mutation - M no France - 00y 0 - - CHD, HTX Left Superior Vena Cava, complete AtrioVentricular canal, pulmonary atresia, right pulmonary isomerism, asplenia, intestinal malrotation, left pancreatic head, fused midline suprarenal glands - GDF1 2 1 Patrice Bouvagnet
00300280 Pt7435 Submitted to Human Mutation - F no France - 00y 0 - - CHD, HTX Common atrium, mitral atresia, hypoplastic left ventricle, Ventricular Septal Defect, right pulmonary isomerism, intestinal malrotation - MMP21 2 1 Patrice Bouvagnet
00300281 Pt6428 Submitted to Human Mutation - M no France - 00y 0 - - CHD, HTX Left Superior Vena Cava, single atrium, complete AV canal, double outlet right ventricle, sub-valvar pulmonary stenosis, valvar pulmonary stenosis, right aortic arch, right pulmonary isomerism, intestinal malrotation - DNAI1 2 1 Patrice Bouvagnet
00303392 FamA PubMed: Ta-Shma 2017 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M yes Israel - - 0 - - CHD see paper; ... PLD1 PLD1 1 3 Johan den Dunnen
00303393 FamBPatII1 PubMed: Ta-Shma 2017 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M yes Israel - - 0 - - CHD see paper; ... PLD1 PLD1 1 3 Johan den Dunnen
00303394 FamA Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Netherlands - - 0 - - CHD see paper; ... PLD1 PLD1 1 2 Johan den Dunnen
00303395 FamB Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303396 FamC Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303397 FamD Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 2 Johan den Dunnen
00303398 FamE Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 2 Johan den Dunnen
00303399 FamF Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 2 Johan den Dunnen
00303400 FamG Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes - Ashkenazi Jewish - 0 - - CHD see paper; ... PLD1 PLD1 1 2 Johan den Dunnen
00303401 FamH Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Ashkenazi Jewish - 0 - - CHD see paper; ... PLD1 PLD1 1 1 Johan den Dunnen
00303402 FamI Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Ashkenazi Jewish - 0 - - CHD see paper; ... PLD1 PLD1 1 1 Johan den Dunnen
00303403 FamJ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHD see paper; ... PLD1 PLD1 1 1 Johan den Dunnen
00303404 FamK Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303405 FamL Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303406 FamM Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303407 FamP Lahrouchi ESHG2020 C05.3 2-generation family, 3 affected fetuses, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303408 FamQ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 3 Johan den Dunnen
00303409 FamR Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00303410 FamS Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - CHD see paper; ..., neonatal cardiomyopathy; 3d-died circulatory failure PLD1 PLD1 2 1 Johan den Dunnen
00303411 FamT Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - CHD see paper; ..., neonatal histiocytoid cardiomyopathy; 8d-died PLD1 PLD1 2 1 Johan den Dunnen
00303412 FamBPatII3 PubMed: Ta-Shma 2017 distant relative M - Israel - - 0 - - CHD see paper; ... PLD1 PLD1 2 1 Johan den Dunnen
00307305 - - - - - - - - - - - CHD - KLF13 KLF13 1 1 Yi-Qing Yang
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