Disease #05339 (CHTD (disease, heart, congenital (CHTD)))

Official abbreviation CHTD
Name disease, heart, congenital (CHTD)
OMIM ID -
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 33
Associated with 3 genes NR2F2, SMAD2, TAB2
Associated tissues -
Disease features -
Remarks -
Date created 2017-11-05 11:35:27 +01:00 (CET)
Date last edited N/A


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00132767 Patients Patients - - no China - - - - - CHTD congenital heart defect; double outlet right ventricle and ventricular septal defect NR2F2 NR2F2 1 1 Yi-Qing Yang
00271328 Patient 1 PubMed: Seo 2016 information on family not known M ? Korea, South (Republic) - 01y08m - - - CHTD, CLP, EVR5, EVR;FEVR, ID familial exudative vitreoretinopathy (HP:0030490) TSPAN12 - - 1 Jasmine Chen
00372043 PatA1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Cafe-au-lait spot (HP:0000957), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Abnormal tricuspid valve morphology (HP:0001702), Thoracic aortic aneurysm (HP:0012727), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), no Pectus excavatum (-HP:0000767), Short palm (HP:0004279), Tapered finger (HP:0001182), Sandal gap (HP:0001852), Hypotonia unknown (?HP:0001252), Hearing impairment unknown (?HP:0000365), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372044 PatB1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected parents M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372045 PatC1 Journal: Engwerda 2021 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 3 Aafke Engwerda
00372046 PatC2 Journal: Engwerda 2021 son M - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372047 PatC3 Journal: Engwerda 2021 daughter F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hypotonia (HP:0001252), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372048 PatD1 Journal: Engwerda 2021 family, 6 affected (4F, 2M), unaffected heterozygous carrier parents F - Netherlands - 46y - - - CHTD 46y-deceased (cause unknown); small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), Hypertelorism unknown (?HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position unknown (?HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Bicuspid aortic valve (HP:0001647), Pulmonic stenosis (HP:0001642), Arrhythmia (HP:0011675), Atrial flutter (HP:0004749), Hearing impairment (HP:0000365), Neurodevelopmental delay unknown (?HP:0012758) TAB2 TAB2 1 6 Aafke Engwerda
00372049 PatD2 Journal: Engwerda 2021 - M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372050 PatD3 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Mitral valve prolapse (HP:0001634), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Arrhythmia (HP:0011675), Supraventricular tachycardia (HP:0004755), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Swan neck-like deformities of the fingers (HP:0006150), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372051 PatD4 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372052 PatD5 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372053 PatD6 Journal: Engwerda 2021 - M - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372054 PatE1 Journal: Engwerda 2021 2-generation family, affected mother/son, unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), no Broad forehead (-HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Joint hypermobility (HP:0001382), Brachydactyly (HP:0001156), Lunate-triquetral fusion (HP:0004251), Abnormality of the os naviculare pedis (HP:0100339), Short toe (HP:0001831), Broad hallux (HP:0010055), Hypotonia (HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 2 Aafke Engwerda
00372055 PatE2 Journal: Engwerda 2021 son M - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral valve prolapse (HP:0001634), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Broad foot (HP:0001769), Hypotonia unknown (?HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00372056 PatF1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Synophrys (HP:0000664), Abnormal heart morphology unknown (?HP:0001627), Cardiomyopathy unknown (?HP:0001638), Arrhythmia unknown (?HP:0011675), Joint hypermobility (HP:0001382), Pes planus unknown (?HP:0001763), Pectus excavatum unknown (?HP:0000767), Feeding difficulties (HP:0011968), no Hypotonia (-HP:0001252), no Hearing impairment (-HP:0000365), Neurodevelopmental delay (HP:0012758) TAB2 TAB2 1 1 Aafke Engwerda
00377319 patient - - F no Finland - - - - - CHTD - - TAB2 1 1 Maria K Haanpää
00385427 FamPatIII1 PubMed: Weiss 2015 3-generation family, 3 affected (3F) F - United States - - - - - CHTD see paper; ..., tetralogy of Fallot, pulmonary atresia, myxomatous and prolapsed mitral and tricuspid valves, supraventricular tachycardia TAB2 TAB2 1 3 Johan den Dunnen
00385428 FamPatII3 PubMed: Weiss 2015 mother F - United States - - - - - CHTD see paper; ..., icuspid aortic valve, ventricular septal defect, myxomatous and prolapsed mitral, and tricuspid valves - TAB2 1 1 Johan den Dunnen
00385429 FamPatI1 PubMed: Weiss 2015 grandmother F - United States - - - - - CHTD see paper; ..., mitral valve regurgitation, myxomatous and prolapsed mitral and tricuspid valves, SVT, atrial fibrillation TAB2 TAB2 1 1 Johan den Dunnen
00385431 FamA PubMed: Thienpont 2010 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives - - - - - - - - CHTD, NS hypoplastic aortic arch, coarctation aorta, ventricular septal defect; mild-moderate developmental dealy; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; strabism; hypospadias, epicantic folds, micrognathia, small ears TAB2 TAB2 1 1 Johan den Dunnen
00385432 FamBPatI1 PubMed: Thienpont 2010 - - - - - - - - - CHTD tricuspid and pulmonic valve dysplasia, mitral valve prolapse, premature ventricular contractions; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; astigmatism; frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, hooded eyelids, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, fetal pads (hands), low set dysplastic ears TAB2 TAB2 1 1 Johan den Dunnen
00385433 FamCPatI2 PubMed: Thienpont 2010 - - - - - - - - - CHTD atrial septal defect typeII; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; retinal pigment changes, minimal optic nerve hypoplasia; sacral dimple, narrow thorax, frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, flat long philtrum, low posterior hair line, low set dysplastic ears TAB2 TAB2 1 1 Johan den Dunnen
00385434 FamDPatII PubMed: Thienpont 2010 - - - - - - - - - CHTD tricuspid insufficiency, atrial septal defect, patent ductus arteriosus; mild developmental dealy; no microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; high palate; normal eyes; no hearing loss; facial asymmetry, short palpebral fissures, medial flare eyebrows, anteverted nares, thin upper lip, long and smooth philtrum, sandal gap, cupshaped left ear TAB2 TAB2 1 1 Johan den Dunnen
00385435 FamEPatIII1 PubMed: Thienpont 2010 - - - - - - - - - CHTD ventricular septal defect; mild developmental dealy; no intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; short nose, full cheeks, smooth philtrum, thin upper lip, almond eyes, low set protruding ears, dyspl astic left ear TAB2 TAB2 1 1 Johan den Dunnen
00385436 FamFp PubMed: Thienpont 2010 2-generation family, affected patient/mother - - - - - - - - CHTD centrovalvular insufficiency of aortic and pulmonic valve; no developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; phimosis; high forehead; almond‐shaped, upslanting palpebral fissures; midface hypoplasia; micrognathia; large, normally placed ears TAB2 TAB2 1 2 Johan den Dunnen
00385437 FamFm PubMed: Thienpont 2010 mother - - - - - - - - CHTD mild aortic and mitral valve stenosis, sinus tachycardia; no developmental dealy; post‐natal growth retardation; facial features similar to her son TAB2 TAB2 1 1 Johan den Dunnen
00385443 FamNPatIII2 PubMed: Thienpont 2010 4-generation family, 3 affected (mother, daughter/son); son M - - - - - - - CHTD aortic stenosis, atrial fibrillation, required an aortic valve replacement TAB2 TAB2 2 3 Johan den Dunnen
00385451 patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - CHTD see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism TAB2 ALMS1, ARHGEF12, BPTF, CCBL2, KDM6B, NCOR1, PTPN21, RYR1, SNED1, TAB2 14 1 Johan den Dunnen
00385549 Fam1Pat1 PubMed: Ritelli 2018 3-generation family, 3 affected (2F, M) F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short limbs; lumbar/sacral anomalies; joint contractures/limitations TAB2 TAB2 1 3 Johan den Dunnen
00385550 Fam1Pat2 PubMed: Ritelli 2018 - F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies TAB2 TAB2 1 1 Johan den Dunnen
00385551 Fam1Pat3 PubMed: Ritelli 2018 - M - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; aortic valve dystrophy/insufficiency; aortic root dilatation; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; mild joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; joint contractures/limitations TAB2 TAB2 1 1 Johan den Dunnen
00385552 Fam2Pat4 PubMed: Ritelli 2018 - F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma TAB2 MYH2, PLCB3, SMC4, TAB2 5 1 Johan den Dunnen
00385648 FamPatII5 PubMed: Chen 2020 3-generation family, 8 affected (6F, M, fetus) F - China - - - - - CHTD see paper; ..., mild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitation TAB2 TAB2 1 8 Johan den Dunnen
00423232 - - - - - - - - - - - CHTD patent ductus arteriosus, bicuspid aortic valve and ventricular septal defect as well as hereditary hemorrhagic telangiectasia syndrome and Juvenile polyposis syndrome. SMAD4 SMAD4 1 1 Yi-Qing Yang
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