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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:catecholaminergic polymorphic ventricular tachycardia
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Accession:DOID:0060674 term browser browse the term
Definition:A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)
Synonyms:exact_synonym: bidirectional tachycardia induced by catecholamines;   catecholamine-induced polymorphic ventricular tachycardia
 related_synonym: VTSIP;   stress-induced polymorphic ventricular tachycardia
 primary_id: MESH:C536334
 alt_id: RDO:0001877
 xref: OMIM:PS604772;   ORDO:3286
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chrNW_004936484:16,186,844...16,248,394 JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chrNW_004936621:2,247,082...2,374,407 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834, PMID:25741868, PMID:28492532 NCBI chrNW_004936606:2,168,104...2,867,560 JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
CTD
ClinVar
PMID:12034872, PMID:12386154, PMID:14571276, PMID:16601229, PMID:17881003, PMID:18469084, PMID:18543230, PMID:18583715, PMID:18684293, PMID:19709828, PMID:20353949, PMID:20513597, PMID:20530761, PMID:21063088, PMID:21076409, PMID:21265816, PMID:21454795, PMID:21618644, PMID:22421959, PMID:22553997, PMID:23595086, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26230511, PMID:26671417, PMID:27930701, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884, PMID:30729048 NCBI chrNW_004936627:1,001,681...1,069,377 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chrNW_004936682:1,676,301...1,725,132 JBrowse link
G LOC101967074 calmodulin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
CTD
ClinVar
PMID:23040497, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26309258, PMID:28492532 NCBI chrNW_004936488:17,580,425...17,588,480 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chrNW_004936484:16,087,924...16,180,089 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chrNW_004936562:1,871,194...1,890,092 JBrowse link
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD
ClinVar
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:11389482, PMID:12093772, PMID:12106942, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15131021, PMID:15175054, PMID:15197150, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15544015, PMID:15721128, PMID:15749201, PMID:15887426, PMID:15890976, PMID:16084945, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16391617, PMID:16436635, PMID:16517285, PMID:16769042, PMID:16818210, PMID:16843546, PMID:16873551, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19541610, PMID:19597050, PMID:19709828, PMID:19781797, PMID:19913485, PMID:19926015, PMID:20080988, PMID:20106799, PMID:20157052, PMID:20513597, PMID:20676041, PMID:20851825, PMID:20961976, PMID:21292648, PMID:21315846, PMID:21454795, PMID:21478052, PMID:21616285, PMID:21645850, PMID:21652165, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22068070, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22515980, PMID:22584762, PMID:22677073, PMID:22787013, PMID:22828895, PMID:23022705, PMID:23098067, PMID:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23479668, PMID:23595086, PMID:23651034, PMID:23757202, PMID:23820649, PMID:23861362, PMID:23871484, PMID:23978697, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24394973, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24728420, PMID:24743769, PMID:24793461, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25087098, PMID:25092222, PMID:25163546, PMID:25193700, PMID:25194972, PMID:25351510, PMID:25440180, PMID:25445213, PMID:25467552, PMID:25554238, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25814417, PMID:25835811, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26112015, PMID:26114861, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26633542, PMID:26656175, PMID:26688388, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27353043, PMID:27435932, PMID:27452199, PMID:27482086, PMID:27532257, PMID:27538377, PMID:27650965, PMID:27727376, PMID:27733687, PMID:27756708, PMID:27930701, PMID:28087566, PMID:28100344, PMID:28125075, PMID:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28600387, PMID:28620067, PMID:28697927, PMID:28750076, PMID:28771489, PMID:28798025, PMID:28961276, PMID:29032884, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30197081, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31112425 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chrNW_004936473:27,883,526...27,963,994 JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936582:3,561,496...3,644,519 JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936471:23,643,645...23,670,775 JBrowse link
G Trdn triadin ISO DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
RGD
ClinVar
PMID:19763152, PMID:20307669, PMID:21520333, PMID:22406018, PMID:22422768, PMID:23035052, PMID:24033266, PMID:25650408, PMID:25741868, PMID:25922419, PMID:26200674, PMID:26768964, PMID:28492532 RGD:7327227 NCBI chrNW_004936802:389,653...637,372 JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936627:942,570...992,081 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chrNW_004936563:3,520,195...4,170,716 JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD
ClinVar
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936627:1,001,681...1,069,377 JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004936706:2,125,237...2,135,974 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chrNW_004936682:1,676,301...1,725,132 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004936527:6,380,222...6,412,390 JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004936679:803,131...938,022 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101967074 calmodulin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chrNW_004936488:17,580,425...17,588,480 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936562:1,871,194...1,890,092 JBrowse link
G Ryr2 ryanodine receptor 2 ISO OMIM NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chrNW_004936473:27,883,526...27,963,994 JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936471:23,643,645...23,670,775 JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936802:389,653...637,372 JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chrNW_004936664:3,093,258...3,124,473 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO OMIM NCBI chrNW_004936627:1,001,681...1,069,377 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:25741868 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chrNW_004936627:942,570...992,081 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecrl trans-2,3-enoyl-CoA reductase like ISO OMIM NCBI chrNW_004936582:3,561,496...3,644,519 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101967074 calmodulin ISO OMIM NCBI chrNW_004936488:17,580,425...17,588,480 JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO OMIM NCBI chrNW_004936802:389,653...637,372 JBrowse link
Long QT Syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO OMIM NCBI chrNW_004936664:471,446...480,858 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    Developmental Diseases 8506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7484
        genetic disease 7027
          monogenic disease 5177
            catecholaminergic polymorphic ventricular tachycardia 22
              Long QT Syndrome 16 1
              catecholaminergic polymorphic ventricular tachycardia 1 15
              catecholaminergic polymorphic ventricular tachycardia 2 3
              catecholaminergic polymorphic ventricular tachycardia 3 1
              catecholaminergic polymorphic ventricular tachycardia 4 1
              catecholaminergic polymorphic ventricular tachycardia 5 1
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      cardiovascular system disease 3184
        heart disease 2260
          Cardiac Arrhythmias 558
            Tachycardia 76
              Ventricular Tachycardia 54
                catecholaminergic polymorphic ventricular tachycardia 22
                  Long QT Syndrome 16 1
                  catecholaminergic polymorphic ventricular tachycardia 1 15
                  catecholaminergic polymorphic ventricular tachycardia 2 3
                  catecholaminergic polymorphic ventricular tachycardia 3 1
                  catecholaminergic polymorphic ventricular tachycardia 4 1
                  catecholaminergic polymorphic ventricular tachycardia 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.