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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Tetralogy of Fallot (D013771)
Child Nodes:
........Fallot complex with severe mental and growth retardation (C536608)
........Hypertelorism and tetralogy of Fallot (C538386)
........Tetralogy of fallot and glaucoma (C536501)
........Tetralogy Of Fallot Syndrome, Autosomal Recessive (C565314)
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10944

Name:

Tetralogy of Fallot

Definition:

A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.

Alternative IDs:

OMIM:187500

ParentIDs:

MESH:D006330

TreeNumbers:

C14.240.400.849 |C14.280.400.849 |C16.131.240.400.849

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: D013771
MeSH: D013771
OMIM: 187500;

Genes: GATA4; GATA6; GDF1; JAG1; NKX2-5; TBX1; ZFPM2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000337	Broad forehead
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0004467	Preauricular pit
5	HP:0000520	Proptosis
6	HP:0001636	Tetralogy of Fallot

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001492.5(GDF1):c.485G>A (p.Gly162Asp)	-1	-	Pathogenic;Uncertain significance	121434424	RCV000007141; RCV000180221;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:CN221809	19	18980040	18980040	NM_001492.5:c.485G>A	NP_001483.3:p.Gly162Asp	NC_000019.9:g.18980040C>T	OMIM Allelic Variant:602880.0003	CN221809 not provided; C0039685 187500 Tetralogy of Fallot
NM_012082.3(ZFPM2):c.1632G>A (p.Met544Ile)	-1	-	Pathogenic	187043152	RCV000032716; RCV000144723;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:CN220529,OMIM:616067	8	106813942	106813942	NM_012082.3:c.1632G>A	NP_036214.2:p.Met544Ile	NC_000008.10:g.106813942G>A	OMIM Allelic Variant:603693.0007	CN220529 616067 46,XY sex reversal 9; C0039685 187500 Tetralogy of Fallot
NM_012082.3(ZFPM2):c.1969A>G (p.Ser657Gly)	-1	-	Pathogenic	28374544	RCV000006501;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006	8	106814279	106814279	NM_012082.3:c.1969A>G	NP_036214.2:p.Ser657Gly	NC_000008.10:g.106814279A>G	OMIM Allelic Variant:603693.0001	C0039685 187500 Tetralogy of Fallot
NM_002052.4(GATA4):c.487C>T (p.Pro163Ser)	2626	GATA4	Pathogenic	387906769	RCV000023004; RCV000023003; RCV000023002;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:614429; MedGen:C3280781,OMIM:614430	8	11566308	11566308	NM_002052.4:c.487C>T	NP_002043.2:p.Pro163Ser	NC_000008.10:g.11566308C>T	OMIM Allelic Variant:600576.0007	C3280781 614430 Atrioventricular septal defect 4; C0039685 187500 Tetralogy of Fallot; C3280777 614429 Ventricular septal defect 1
NM_002052.4(GATA4):c.1220C>A (p.Pro407Gln)	2626	GATA4	Pathogenic	115099192	RCV000023008; RCV000030949;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:614429	8	11615875	11615875	NM_002052.4:c.1220C>A	NP_002043.2:p.Pro407Gln	NC_000008.10:g.11615875C>A	OMIM Allelic Variant:600576.0011,OMIM Allelic Variant:600576.0013	C0039685 187500 Tetralogy of Fallot; C3280777 614429 Ventricular septal defect 1
NM_002052.4(GATA4):c.1273G>A (p.Asp425Asn)	2626	GATA4	Pathogenic;Uncertain significance	56208331	RCV000009601; RCV000009600; RCV000190715;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C0950123; MedGen:C1842778,OMIM:607941	8	11615928	11615928	NM_002052.4:c.1273G>A	NP_002043.2:p.Asp425Asn	NC_000008.10:g.11615928G>A	OMIM Allelic Variant:600576.0005	C1842778 607941 Atrial septal defect 2; C0950123 Inborn genetic diseases; C0039685 187500 Tetralogy of Fallot
NM_005257.5(GATA6):c.551G>A (p.Ser184Asn)	2627	GATA6	Pathogenic	387906816	RCV000023132; RCV000023131;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C3280943,OMIM:614475	18	19751656	19751656	NM_005257.5:c.551G>A	NP_005248.2:p.Ser184Asn	NC_000018.9:g.19751656G>A	OMIM Allelic Variant:601656.0005	C3280943 614475 Atrial septal defect 9; C0039685 187500 Tetralogy of Fallot
NM_005257.5(GATA6):c.592C>G (p.Leu198Val)	2627	GATA6	Pathogenic	387906814	RCV000023129;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006	18	19751697	19751697	NM_005257.5:c.592C>G	NP_005248.2:p.Leu198Val	NC_000018.9:g.19751697C>G	OMIM Allelic Variant:601656.0003	C0039685 187500 Tetralogy of Fallot
NM_000214.2(JAG1):c.821G>A (p.Gly274Asp)	182	JAG1	Pathogenic	28939668	RCV000008063;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006	20	10633181	10633181	NM_000214.2:c.821G>A	NP_000205.1:p.Gly274Asp	NC_000020.10:g.10633181C>T	OMIM Allelic Variant:601920.0010	C0039685 187500 Tetralogy of Fallot
NM_004387.3(NKX2-5):c.656C>T (p.Ala219Val)	1482	NKX2-5	Pathogenic	104893902	RCV000009576;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006	5	172659891	172659891	NM_004387.3:c.656C>T	NP_004378.1:p.Ala219Val	NC_000005.9:g.172659891G>A	OMIM Allelic Variant:600584.0008	C0039685 187500 Tetralogy of Fallot
NM_004387.3(NKX2-5):c.646C>T (p.Arg216Cys)	1482	NKX2-5	Pathogenic	104893905	RCV000009575;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006	5	172659901	172659901	NM_004387.3:c.646C>T	NP_004378.1:p.Arg216Cys	NC_000005.9:g.172659901G>A	OMIM Allelic Variant:600584.0007	C0039685 187500 Tetralogy of Fallot
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys)	1482	NKX2-5	Benign;Likely benign;Pathogenic	28936670	RCV000009572; RCV000206285; RCV000009573; RCV000023019; RCV000023017; RCV000023018; RCV000030339; RCV000171008; RCV000037968; RCV000146755;	N	Human Phenotype Ontology:HP:0001660,MedGen:CN001511; MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C0152021,SNOMED CT:13213009; MedGen:C0152419; MedGen:C1862388,OMIM:108900; MedGen:C2673630,OMIM:225250; MedGen:C3280795,OMIM:614435; MedGen:C	5	172662014	172662014	NM_004387.3:c.73C>T	NP_004378.1:p.Arg25Cys	NC_000005.9:g.172662014G>A	OMIM Allelic Variant:600584.0004	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects; C0152021 Congenital heart disease; C3280795 614435 Hypoplastic left heart syndrome 2; C2673630 225250 Hypothyroidism, congenital, nongoitrous, 5; C0152419 Inter
NM_004387.3(NKX2-5):c.61G>C (p.Glu21Gln)	1482	NKX2-5	Likely benign;Uncertain significance	104893904	RCV000009574; RCV000030618; RCV000171013;	N	MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C0152021,SNOMED CT:13213009; MedGen:CN169374	5	172662026	172662026	NM_004387.3:c.61G>C	NP_004378.1:p.Glu21Gln	NC_000005.9:g.172662026C>G	OMIM Allelic Variant:600584.0006	C0152021 Congenital heart disease; CN169374 not specified; C0039685 187500 Tetralogy of Fallot
NM_012082.3(ZFPM2):c.89A>G (p.Glu30Gly)	23414	ZFPM2	Pathogenic	121908601	RCV000032713; RCV000006502; RCV000172841;	N	MedGen:C0013069,ORPHA:3426,SNOMED CT:7484005; MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C1857781,OMIM:610187	8	106431420	106431420	NM_012082.3:c.89A>G	NP_036214.2:p.Glu30Gly	NC_000008.10:g.106431420A>G	OMIM Allelic Variant:603693.0002	C1857781 610187 Diaphragmatic hernia 3; C0013069 Double outlet right ventricle; C0039685 187500 Tetralogy of Fallot