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	catecholaminergic polymorphic ventricular tachycardia

Disease ID	259
Disease	catecholaminergic polymorphic ventricular tachycardia
Definition	An electrocardiographic finding of ventricular tachycardia that is associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC)
Synonym	bidirectional tachycardia induced by catecholamines catecholamine-induced polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia (disorder) catecholaminergic polymorphic ventricular tachycardia by ecg finding catecholaminergic polymorphic ventricular tachycardia by ekg finding cpvt1 polymorphic catecholergic ventricular tachycardia ventricular tachycardia, catecholaminergic polymorphic, 1 ventricular tachycardia, catecholaminergic polymorphic, 1 (disorder) ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular tachycardia, stress-induced polymorphic
Orphanet	ORPHANET:3286
OMIM	OMIM:611938 OMIM:604772
UMLS	C1631597
SNOMED-CT	SNOMEDCT_US_2016_09_01:419671004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0024591 \| malignant hyperthermia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1829 \| DSG2 \| CLINVAR 6262 \| RYR2 \| CLINVAR;CTD_human;UNIPROT 845 \| CASQ2 \| CTD_human 801 \| CALM1 \| CLINVAR 287 \| ANK2 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 88 \| ACTN2 \| 2.122 \| DISEASES 10142 \| AKAP9 \| 2.819 \| DISEASES 287 \| ANK2 \| 3.32 \| DISEASES 444 \| ASPH \| 4.151 \| DISEASES 779 \| CACNA1S \| 2.478 \| DISEASES 801 \| CALM1 \| 4.212 \| DISEASES 811 \| CALR \| 1.295 \| DISEASES 844 \| CASQ1 \| 4.36 \| DISEASES 859 \| CAV3 \| 1.032 \| DISEASES 23607 \| CD2AP \| 4.338 \| DISEASES 6900 \| CNTN2 \| 1.192 \| DISEASES 1804 \| DPP6 \| 1.792 \| DISEASES 2280 \| FKBP1A \| 1.399 \| DISEASES 2281 \| FKBP1B \| 6.051 \| DISEASES 642489 \| FKBP1C \| 1.495 \| DISEASES 3753 \| KCNE1 \| 3.306 \| DISEASES 3762 \| KCNJ5 \| 2.111 \| DISEASES 4555 \| MT-TD \| 2.912 \| DISEASES 4624 \| MYH6 \| 1.01 \| DISEASES 10529 \| NEBL \| 2.519 \| DISEASES 91624 \| NEXN \| 2.104 \| DISEASES 5137 \| PDE1C \| 2.422 \| DISEASES 284119 \| PTRF \| 1.667 \| DISEASES 6261 \| RYR1 \| 4.111 \| DISEASES 6262 \| RYR2 \| 8.364 \| DISEASES 6263 \| RYR3 \| 2.005 \| DISEASES 6329 \| SCN4A \| 1.361 \| DISEASES 6331 \| SCN5A \| 4.169 \| DISEASES 6546 \| SLC8A1 \| 1.582 \| DISEASES 57057 \| TBX20 \| 2.017 \| DISEASES 253017 \| TECRL \| 3.929 \| DISEASES 10345 \| TRDN \| 5.312 \| DISEASES
Locus	Symbol \| Locus(Total Locus:6) CALM1 \| 14q32.11 CALM3 \| 19q13.32 CALM2 \| 2p21 TRDN \| 6q22.31 RYR2 \| 1q43 CASQ2 \| 1p13.1

Disease ID	259
Disease	catecholaminergic polymorphic ventricular tachycardia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0004756 \| Ventricular tachycardia HP:0002321 \| Vertigo HP:0001279 \| Syncope HP:0001645 \| Sudden cardiac death
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0011675 \| Arrhythmias \| 9 HP:0004308 \| Ventricular arrhythmia \| 4 HP:0001645 \| Sudden cardiac death \| 2 HP:0001279 \| Syncope \| 2 HP:0004755 \| Supraventricular tachycardia \| 1 HP:0001649 \| Tachycardia \| 1 HP:0001663 \| Ventricular fibrillation \| 1 HP:0002047 \| Malignant hyperthermia \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0001945 \| Fever \| 1 HP:0001695 \| Cardiac arrest \| 1

Disease ID	259
Disease	catecholaminergic polymorphic ventricular tachycardia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0428908 \| sinus node dysfunction
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
RYR2	NM_001035.2:c.1217C>T, NP_001026.2:p.Ser406Leu	doi:10.1038/gim.2015.26	Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913013	NA	1829	DSG2	umls:C1631597	CLINVAR	NA	0.12	NA	DSG2	18	31519887	G	A
rs121918597	21768539	6262	RYR2	umls:C1631597	BeFree	In the present study, we investigated mutation-induced conformational defects of RyR2 using a knockin mouse model expressing the human catecholaminergic polymorphic ventricular tachycardia-associated RyR2 mutant (S2246L; serine to leucine mutation at the residue 2246).	0.463615443	2011	RYR2	1	237634937	C	T
rs121918597	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237634937	C	T
rs121918598	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237648523	G	C
rs121918598	20944434	6262	RYR2	umls:C1631597	BeFree	Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model.	0.463615443	2010	RYR2	1	237648523	G	C
rs121918599	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237784024	C	G
rs121918600	22711277	6262	RYR2	umls:C1631597	BeFree	The increased activity of RyR2(R4496C) in SAN leads to an unanticipated decrease in SAN automaticity by a Ca(2+)-dependent decrease of I(Ca,L) and sarcoplasmic reticulum Ca(2+) depletion during diastole, identifying subcellular pathophysiological alterations contributing to the SAN dysfunction in catecholaminergic polymorphic ventricular tachycardia patients.	0.463615443	2012	RYR2	1	237791441	C	T
rs121918600	23295832	6262	RYR2	umls:C1631597	BeFree	Atrial overdrive pacing completely prevented VA in 16 of 19 (84%) Casq2(-/-) and in 7 of 8 (88%) RyR2(R4496C/+) mice and significantly reduced ventricular premature beats in both CPVT models (P<0.05).	0.463615443	2013	RYR2	1	237791441	C	T
rs121918600	23295832	845	CASQ2	umls:C1631597	BeFree	Atrial overdrive pacing completely prevented VA in 16 of 19 (84%) Casq2(-/-) and in 7 of 8 (88%) RyR2(R4496C/+) mice and significantly reduced ventricular premature beats in both CPVT models (P<0.05).	0.129229024	2013	RYR2	1	237791441	C	T
rs121918600	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237791441	C	T
rs121918602	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237454396	T	C
rs121918603	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237639068	C	T
rs121918603	22962621	6262	RYR2	umls:C1631597	BeFree	Spontaneously beating CMs were differentiated from iPSCs derived from a CPVT patient carrying a P2328S mutation in RyR2 and from two healthy controls.	0.463615443	2012	RYR2	1	237639068	C	T
rs121918604	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237798037	G	A,T
rs121918605	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237784314	A	G
rs121918606	25775566	6262	RYR2	umls:C1631597	BeFree	We aimed to elucidate arrhythmia mechanisms in a RyR2-linked CPVT mutation (RyR2-A4860G) that depresses channel activity.	0.463615443	2015	RYR2	1	237819181	C	G
rs121918606	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237819181	C	G
rs180843436	NA	287	ANK2	umls:C1631597	CLINVAR	NA	0.12	NA	ANK2	4	113360849	G	A
rs186906598	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237627977	G	A
rs190140598	12106942	6262	RYR2	umls:C1631597	UNIPROT	Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.	0.463615443	2002	RYR2	1	237445488	C	T
rs199473368	24561538	3759	KCNJ2	umls:C1631597	BeFree	A 33-year-old woman presented with a catecholaminergic polymorphic ventricular tachycardia-like clinical phenotype and was found to have KCNJ2 missense mutation R67Q.	0.001357209	2015	KCNJ2	17	70175239	G	A
rs199473657	19843922	3759	KCNJ2	umls:C1631597	BeFree	Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.	0.001357209	2009	KCNJ2	17	70175718	G	T
rs267607276	NA	801	CALM1	umls:C1631597	CLINVAR	NA	0.120814326	NA	CALM1	14	90401385	A	T
rs267607277	NA	801	CALM1	umls:C1631597	CLINVAR	NA	0.120814326	NA	CALM1	14	90404386	A	G
rs397516508	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237784256	G	C
rs397516539	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237377365	G	A
rs587782975	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237772024	A	G
rs727503396	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237369589	G	A
rs730880187	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237492973	C	T
rs730880191	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237566623	G	A
rs730880196	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237784037	A	G
rs730880201	NA	6262	RYR2	umls:C1631597	CLINVAR	NA	0.463615443	NA	RYR2	1	237830600	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004756	Ventricular tachycardia	MP:0008950	ventricular tachycardia	paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle
HP:0001645	Sudden cardiac death	MP:0012557	decreased calcium uptake by cardiac muscle	decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease

Mapped by homologous gene(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001279	Syncope	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001645	Sudden cardiac death	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004756	Ventricular tachycardia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002321	Vertigo	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue

Disease ID	259
Disease	catecholaminergic polymorphic ventricular tachycardia
Case	(Waiting for update.)