Human Phenotype Ontology 
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Abnormal EKG (HP:0003115)help
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Abnormal QT interval (HP:0031547)help
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Prolonged QT interval (HP:0001657)help
Term ID: 1657
Name: Prolonged QT interval
Synonym: Long Q-T syndrome; Long QT syndrome; Prolong qt interval on ekg
Definition: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Comments:
Reference: HP:0001657
Genes and Diseases:
 
       Child Nodes:
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 Sister Nodes: 
..expandShortened QT interval (HP:0012232) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001657HP:0001657Prolonged QT interval0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare200
HP:0001657HP:0001657Prolonged QT interval0AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11.289
HP:0001657HP:0001657Prolonged QT interval0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0001657HP:0001657Prolonged QT interval0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 2.3
HP:0001657HP:0001657Prolonged QT interval0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 27.89
HP:0001657HP:0001657Prolonged QT interval0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related.539
HP:0001657HP:0001657Prolonged QT interval0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0001657HP:0001657Prolonged QT interval0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H7751390OMIM:620029572
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0001657HP:0001657Prolonged QT interval0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0001657HP:0001657Prolonged QT interval0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 14.18
HP:0001657HP:0001657Prolonged QT interval0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0001657HP:0001657Prolonged QT interval0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0001657HP:0001657Prolonged QT interval0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0001657HP:0001657Prolonged QT interval0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0001657HP:0001657Prolonged QT interval0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0001657HP:0001657Prolonged QT interval0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0001657HP:0001657Prolonged QT interval0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0001657HP:0001657Prolonged QT interval0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0001657HP:0001657Prolonged QT interval0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040282 - Frequent25
HP:0001657HP:0001657Prolonged QT interval0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0001657HP:0001657Prolonged QT interval0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0001657HP:0001657Prolonged QT interval0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0001657HP:0001657Prolonged QT interval0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0001657HP:0001657Prolonged QT interval0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0001657HP:0001657Prolonged QT interval0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0001657HP:0001657Prolonged QT interval0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare41
HP:0001657HP:0001657Prolonged QT interval0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0001657HP:0001657Prolonged QT interval0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0001657HP:0001657Prolonged QT interval0KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2.148
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5.148
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0001657HP:0001657Prolonged QT interval0KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 6.43
HP:0001657HP:0001657Prolonged QT interval0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0001657HP:0001657Prolonged QT interval0KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2.901
HP:0001657HP:0001657Prolonged QT interval0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0001657HP:0001657Prolonged QT interval0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0001657HP:0001657Prolonged QT interval0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0001657HP:0001657Prolonged QT interval0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent193
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent128
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1.730
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0001657HP:0001657Prolonged QT interval0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0001657HP:0001657Prolonged QT interval0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0001657HP:0001657Prolonged QT interval0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0001657HP:0001657Prolonged QT interval0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0001657HP:0001657Prolonged QT interval0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0001657HP:0001657Prolonged QT interval0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0001657HP:0001657Prolonged QT interval0SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0001657HP:0001657Prolonged QT interval0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 3.1134
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0001657HP:0001657Prolonged QT interval0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0001657HP:0001657Prolonged QT interval0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0001657HP:0001657Prolonged QT interval0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0001657HP:0001657Prolonged QT interval0SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0001657HP:0001657Prolonged QT interval0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0001657HP:0001657Prolonged QT interval0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0001657HP:0001657Prolonged QT interval0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0001657HP:0001657Prolonged QT interval0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0001657HP:0001657Prolonged QT interval0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001657HP:0001657Prolonged QT interval0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001657HP:0001657Prolonged QT interval0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0001657HP:0001657Prolonged QT interval0TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 3.4
HP:0001657HP:0001657Prolonged QT interval0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0001657HP:0001657Prolonged QT interval0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0001657HP:0001657Prolonged QT interval0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0001657HP:0001657Prolonged QT interval0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0001657HP:0005184Prolonged QTc interval1AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0001657HP:0005184Prolonged QTc interval1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate289
HP:0001657HP:0005184Prolonged QTc interval1ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0001657HP:0005184Prolonged QTc interval1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate539
HP:0001657HP:0005184Prolonged QTc interval1CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0001657HP:0005184Prolonged QTc interval1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate572
HP:0001657HP:0005184Prolonged QTc interval1CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0001657HP:0005184Prolonged QTc interval1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate18
HP:0001657HP:0005184Prolonged QTc interval1CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0001657HP:0005184Prolonged QTc interval1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate13
HP:0001657HP:0005184Prolonged QTc interval1CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0001657HP:0005184Prolonged QTc interval1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate16
HP:0001657HP:0005184Prolonged QTc interval1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0001657HP:0005184Prolonged QTc interval1FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0001657HP:0005184Prolonged QTc interval1HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0001657HP:0005184Prolonged QTc interval1KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 7HP:0040283 - Occasional38
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent148
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0001657HP:0005184Prolonged QTc interval1KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0001657HP:0005184Prolonged QTc interval1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate43
HP:0001657HP:0005184Prolonged QTc interval1KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0001657HP:0005184Prolonged QTc interval1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate901
HP:0001657HP:0005184Prolonged QTc interval1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0001657HP:0005184Prolonged QTc interval1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate128
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent730
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate730
HP:0001657HP:0005184Prolonged QTc interval1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0001657HP:0005184Prolonged QTc interval1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate4
HP:0001657HP:0005184Prolonged QTc interval1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate146
HP:0001657HP:0005184Prolonged QTc interval1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate110
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate1134
HP:0001657HP:0005184Prolonged QTc interval1SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0001657HP:0005184Prolonged QTc interval1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate118
HP:0001657HP:0005184Prolonged QTc interval1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0001657HP:0005184Prolonged QTc interval1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001657HP:0005184Prolonged QTc interval1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate123
HP:0001657HP:0005184Prolonged QTc interval1TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy.1
HP:0001657HP:0005184Prolonged QTc interval1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate145


Genes (54) :ACADVL AKAP9 ALG10B ALPK3 ANK2 BPTF CACNA1C CACNA1S CALM1 CALM2 CALM3 CAV3 CAVIN1 CLCNKB DNAJC19 DPAGT1 FLNC GABRA3 GMPPB GNAS GPC3 GPC4 HADH HCN4 KCNA5 KCND3 KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 MECP2 NOS1AP PHOX2B PSMD12 RYR1 SCN10A SCN4B SCN5A SLC12A3 SLC6A8 SNTA1 SRY STX16 SVIL TANGO2 TBX5 TECRL TNNI3K TNNT2 TRDN TRPM4

Diseases (58) :ORPHA:26793 OMIM:611820 ORPHA:101016 OMIM:613688 OMIM:618052 OMIM:600919 ORPHA:529962 OMIM:620029 OMIM:618447 OMIM:601005 ORPHA:79102 OMIM:616247 OMIM:616249 OMIM:618782 OMIM:611818 OMIM:613327 ORPHA:358 OMIM:610198 ORPHA:66634 ORPHA:86309 OMIM:617047 OMIM:615351 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:373 ORPHA:71212 OMIM:163800 OMIM:612240 OMIM:616399 ORPHA:90647 OMIM:612347 OMIM:613695 OMIM:613693 OMIM:170390 ORPHA:37553 ORPHA:251274 OMIM:613485 OMIM:607554 OMIM:220400 OMIM:192500 OMIM:312750 ORPHA:2151 ORPHA:466650 OMIM:611819 OMIM:603830 OMIM:608567 OMIM:263800 OMIM:300352 OMIM:612955 ORPHA:1772 OMIM:619040 OMIM:616878 ORPHA:480864 OMIM:614021 OMIM:616117 OMIM:601494 OMIM:604559
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.