Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cardiovascular system (HP:0001626)help
Parent Node:
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Abnormal cardiovascular system physiology (HP:0011025)help
..Starting node
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Syncope (HP:0001279)help
Term ID: 1279
Name: Syncope
Synonym: Fainting spell
Definition: Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Comments:
Reference: HP:0001279
Genes and Diseases:
 
       Child Nodes:
........expandVasovagal syncope (HP:0012668) help
........expandCarotid sinus syncope (HP:0012669) help
........expandOrthostatic syncope (HP:0012670) help

 Sister Nodes: 
..expandAbnormal cardiac atrial physiology (HP:0025443) help
..expandAbnormal cardiac ventricular function (HP:0030872) help
..expandAbnormal echocardiogram (HP:0003116) help
..expandAbnormal heart sound (HP:0031657) help
..expandAbnormal heart valve physiology (HP:0031653) help
..expandAbnormal systemic blood pressure (HP:0030972) help
..expandAbnormal vascular physiology (HP:0030163) help
..expandAbnormality of blood circulation (HP:0011028) help
..expandAbnormality of cardiovascular system electrophysiology (HP:0030956) help
..expandAngina pectoris (HP:0001681) help
..expandCongestive heart failure (HP:0001635) help
..expandMyocardial infarction (HP:0001658) help
..expandShock (HP:0031273) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001279HP:0001279Syncope0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM139626379604001
HP:0001279HP:0001279Syncope0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM175933493106410
HP:0001279HP:0001279Syncope0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM12221152604577
HP:0001279HP:0001279Syncope0CACNA1C CL E G H775611875Brugada syndrome 3611875C2678478OMIM17410431390114205
HP:0001279HP:0001279Syncope0CACNB2 CL E G H783611876Brugada syndrome 4611876C2678477OMIM1243261402600003
HP:0001279HP:0001279Syncope0CALM1 CL E G H801614916Ventricular tachycardia, catecholaminergic polymorphic, 4614916C3554047OMIM112591442114180
HP:0001279HP:0001279Syncope0CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1352591513114251
HP:0001279HP:0001279Syncope0CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM1352591513114251
HP:0001279HP:0001279Syncope0DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM1884943036125645
HP:0001279HP:0001279Syncope0GPD1L CL E G H23171611777Brugada syndrome 2611777C2673193OMIM11317528956611778
HP:0001279HP:0001279Syncope0JUP CL E G H3728611528Arrhythmogenic right ventricular cardiomyopathy, type 12611528C1969081OMIM1483676207173325
HP:0001279HP:0001279Syncope0KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM1492526240176261
HP:0001279HP:0001279Syncope0KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM1492526240176261
HP:0001279HP:0001279Syncope0KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM1251256242603796
HP:0001279HP:0001279Syncope0KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM194713166251152427
HP:0001279HP:0001279Syncope0KCNH2 CL E G H3757609620Short QT syndrome 1609620C1865020OMIM194713166251152427
HP:0001279HP:0001279Syncope0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1942706263600681
HP:0001279HP:0001279Syncope0KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM1162356266600734
HP:0001279HP:0001279Syncope0KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM16439716294607542
HP:0001279HP:0001279Syncope0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM16439716294607542
HP:0001279HP:0001279Syncope0KCNQ1 CL E G H3784609621Short QT syndrome 2609621C1865019OMIM16439716294607542
HP:0001279HP:0001279Syncope0LMNA CL E G H4000264ORPHA15749186636150330
HP:0001279HP:0001279Syncope0PKP2 CL E G H5318609040Arrhythmogenic right ventricular cardiomyopathy, type 9609040C1836906OMIM12926799024602861
HP:0001279HP:0001279Syncope0PSEN1 CL E G H5663613694Cardiomyopathy, dilated, 1u613694C3160720OMIM13202919508104311
HP:0001279HP:0001279Syncope0PSEN2 CL E G H5664613697Dilated cardiomyopathy 1V613697C3150958OMIM1681039509600759
HP:0001279HP:0001279Syncope0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM144821150610432
HP:0001279HP:0001279Syncope0RYR2 CL E G H6262604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1394213210484180902
HP:0001279HP:0001279Syncope0SCN5A CL E G H6331601154Dilated cardiomyopathy 1E601154C1832680OMIM1914162410593600163
HP:0001279HP:0001279Syncope0SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1914162410593600163
HP:0001279HP:0001279Syncope0SCN5A CL E G H6331603829Paroxysmal familial ventricular fibrillation 1603829C2751898OMIM1914162410593600163
HP:0001279HP:0001279Syncope0SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1914162410593600163
HP:0001279HP:0001279Syncope0SNTA1 CL E G H6640612955Long QT syndrome 12612955C2751830OMIM11819911167601017
HP:0001279HP:0001279Syncope0TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM132427365617242
HP:0001279HP:0001279Syncope0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM12511811943191040
HP:0001279HP:0001279Syncope0TRDN CL E G H10345604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1636612261603283
HP:0001279HP:0001279Syncope0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM1636612261603283
HP:0001279HP:0001279Syncope0TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM13628817993606936
HP:0001279HP:0001279Syncope1AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM139626379604001
HP:0001279HP:0001279Syncope1ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM175933493106410
HP:0001279HP:0001279Syncope1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM12221152604577
HP:0001279HP:0001279Syncope1CACNA1C CL E G H775611875Brugada syndrome 3611875C2678478OMIM17410431390114205
HP:0001279HP:0001279Syncope1CACNB2 CL E G H783611876Brugada syndrome 4611876C2678477OMIM1243261402600003
HP:0001279HP:0001279Syncope1CALM1 CL E G H801614916Ventricular tachycardia, catecholaminergic polymorphic, 4614916C3554047OMIM112591442114180
HP:0001279HP:0001279Syncope1CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1352591513114251
HP:0001279HP:0001279Syncope1CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM1352591513114251
HP:0001279HP:0001279Syncope1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM1884943036125645
HP:0001279HP:0001279Syncope1GPD1L CL E G H23171611777Brugada syndrome 2611777C2673193OMIM11317528956611778
HP:0001279HP:0001279Syncope1JUP CL E G H3728611528Arrhythmogenic right ventricular cardiomyopathy, type 12611528C1969081OMIM1483676207173325
HP:0001279HP:0001279Syncope1KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM1492526240176261
HP:0001279HP:0001279Syncope1KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM1492526240176261
HP:0001279HP:0001279Syncope1KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM1251256242603796
HP:0001279HP:0001279Syncope1KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM194713166251152427
HP:0001279HP:0001279Syncope1KCNH2 CL E G H3757609620Short QT syndrome 1609620C1865020OMIM194713166251152427
HP:0001279HP:0001279Syncope1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1942706263600681
HP:0001279HP:0001279Syncope1KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM1162356266600734
HP:0001279HP:0001279Syncope1KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM16439716294607542
HP:0001279HP:0001279Syncope1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM16439716294607542
HP:0001279HP:0001279Syncope1KCNQ1 CL E G H3784609621Short QT syndrome 2609621C1865019OMIM16439716294607542
HP:0001279HP:0001279Syncope1LMNA CL E G H4000264ORPHA15749186636150330
HP:0001279HP:0001279Syncope1PKP2 CL E G H5318609040Arrhythmogenic right ventricular cardiomyopathy, type 9609040C1836906OMIM12926799024602861
HP:0001279HP:0001279Syncope1PSEN1 CL E G H5663613694Cardiomyopathy, dilated, 1u613694C3160720OMIM13202919508104311
HP:0001279HP:0001279Syncope1PSEN2 CL E G H5664613697Dilated cardiomyopathy 1V613697C3150958OMIM1681039509600759
HP:0001279HP:0001279Syncope1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM144821150610432
HP:0001279HP:0001279Syncope1RYR2 CL E G H6262604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1394213210484180902
HP:0001279HP:0001279Syncope1SCN5A CL E G H6331601154Dilated cardiomyopathy 1E601154C1832680OMIM1914162410593600163
HP:0001279HP:0001279Syncope1SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1914162410593600163
HP:0001279HP:0001279Syncope1SCN5A CL E G H6331603829Paroxysmal familial ventricular fibrillation 1603829C2751898OMIM1914162410593600163
HP:0001279HP:0001279Syncope1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1914162410593600163
HP:0001279HP:0001279Syncope1SNTA1 CL E G H6640612955Long QT syndrome 12612955C2751830OMIM11819911167601017
HP:0001279HP:0001279Syncope1TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM132427365617242
HP:0001279HP:0001279Syncope1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM12511811943191040
HP:0001279HP:0001279Syncope1TRDN CL E G H10345604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1636612261603283
HP:0001279HP:0001279Syncope1TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM1636612261603283
HP:0001279HP:0001279Syncope1TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM13628817993606936
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001279HP:0001279Syncope0CACNA2D1 CL E G H78151083ORPHA0182041399114204
HP:0001279HP:0001279Syncope0CALM1 CL E G H8013286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA012591442114180
HP:0001279HP:0001279Syncope0CALM2 CL E G H8053286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA011631445114182
HP:0001279HP:0001279Syncope0CALM3 CL E G H8083286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA05461449114183
HP:0001279HP:0001279Syncope0CASQ2 CL E G H8453286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0352591513114251
HP:0001279HP:0001279Syncope0CTSH CL E G H15122073ORPHA01182535116820
HP:0001279HP:0001279Syncope0DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM030913253052125647
HP:0001279HP:0001279Syncope0HCRT CL E G H30602073ORPHA0294847602358
HP:0001279HP:0001279Syncope0HLA-DQB1 CL E G H31192073ORPHA015114944604305
HP:0001279HP:0001279Syncope0HLA-DRB1 CL E G H31232073ORPHA026174948142857
HP:0001279HP:0001279Syncope0JAK2 CL E G H371771493ORPHA0262346192147796
HP:0001279HP:0001279Syncope0JUP CL E G H3728601214Naxos disease601214C1832600OMIM0483676207173325
HP:0001279HP:0001279Syncope0KCNH2 CL E G H375751083ORPHA094713166251152427
HP:0001279HP:0001279Syncope0KCNJ2 CL E G H375951083ORPHA0942706263600681
HP:0001279HP:0001279Syncope0KCNQ1 CL E G H378451083ORPHA06439716294607542
HP:0001279HP:0001279Syncope0MOG CL E G H43402073ORPHA02117197159465
HP:0001279HP:0001279Syncope0MPL CL E G H435271493ORPHA0571337217159530
HP:0001279HP:0001279Syncope0P2RY11 CL E G H50322073ORPHA012108540602697
HP:0001279HP:0001279Syncope0RYR2 CL E G H62623286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0394213210484180902
HP:0001279HP:0001279Syncope0TECRL CL E G H2530173286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA032427365617242
HP:0001279HP:0001279Syncope0THPO CL E G H706671493ORPHA0156111795600044
HP:0001279HP:0001279Syncope0TNFSF4 CL E G H72922073ORPHA072811934603594
HP:0001279HP:0001279Syncope0TRDN CL E G H103453286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0636612261603283
HP:0001279HP:0001279Syncope0ZNF365 CL E G H228912073ORPHA021818194607818
HP:0001279HP:0001279Syncope1CACNA2D1 CL E G H78151083ORPHA0182041399114204
HP:0001279HP:0001279Syncope1CALM1 CL E G H8013286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA012591442114180
HP:0001279HP:0001279Syncope1CALM2 CL E G H8053286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA011631445114182
HP:0001279HP:0001279Syncope1CALM3 CL E G H8083286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA05461449114183
HP:0001279HP:0001279Syncope1CASQ2 CL E G H8453286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0352591513114251
HP:0001279HP:0001279Syncope1CTSH CL E G H15122073ORPHA01182535116820
HP:0001279HP:0001279Syncope1DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM030913253052125647
HP:0001279HP:0001279Syncope1HCRT CL E G H30602073ORPHA0294847602358
HP:0001279HP:0001279Syncope1HLA-DQB1 CL E G H31192073ORPHA015114944604305
HP:0001279HP:0001279Syncope1HLA-DRB1 CL E G H31232073ORPHA026174948142857
HP:0001279HP:0001279Syncope1JAK2 CL E G H371771493ORPHA0262346192147796
HP:0001279HP:0001279Syncope1JUP CL E G H3728601214Naxos disease601214C1832600OMIM0483676207173325
HP:0001279HP:0001279Syncope1KCNH2 CL E G H375751083ORPHA094713166251152427
HP:0001279HP:0001279Syncope1KCNJ2 CL E G H375951083ORPHA0942706263600681
HP:0001279HP:0001279Syncope1KCNQ1 CL E G H378451083ORPHA06439716294607542
HP:0001279HP:0001279Syncope1MOG CL E G H43402073ORPHA02117197159465
HP:0001279HP:0001279Syncope1MPL CL E G H435271493ORPHA0571337217159530
HP:0001279HP:0001279Syncope1P2RY11 CL E G H50322073ORPHA012108540602697
HP:0001279HP:0001279Syncope1RYR2 CL E G H62623286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0394213210484180902
HP:0001279HP:0001279Syncope1TECRL CL E G H2530173286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA032427365617242
HP:0001279HP:0001279Syncope1THPO CL E G H706671493ORPHA0156111795600044
HP:0001279HP:0001279Syncope1TNFSF4 CL E G H72922073ORPHA072811934603594
HP:0001279HP:0001279Syncope1TRDN CL E G H103453286Catecholaminergic polymorphic ventricular tachycardiaC1631597ORPHA0636612261603283
HP:0001279HP:0001279Syncope1ZNF365 CL E G H228912073ORPHA021818194607818


Genes (44) :AKAP9 ANK2 BVES CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 COQ2 CTSH DSC2 DSP GPD1L HCRT HLA-DQB1 HLA-DRB1 JAK2 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 LMNA MOG MPL P2RY11 PKP2 PSEN1 PSEN2 RNF125 RYR2 SCN5A SNTA1 TECRL THPO TNFSF4 TNNC1 TRDN TRPM4 ZNF365

Diseases (43) :611820 600919 616812 611875 51083 611876 3286 614916 604772 611938 2073 610476 615821 611777 71493 611528 601214 612347 613695 613693 613688 609620 170390 613485 220400 192500 609621 264 609040 613694 613697 616260 601154 603830 603829 113900 612955 614021 613243 615441 604559 98933 227510
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.