PedAM

Pediatric Disease Annotations & Medicines


	long qt syndrome 1

Disease ID	702
Disease	long qt syndrome 1
Definition	A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Synonym	long qt syndrome 001 long qt syndrome type 1 lqt1 romano ward syndrome romano-ward syndrome romano-ward syndrome (disorder) romano-ward syndrome [disease/finding] rws syndrome, romano-ward syndrome, ward-romano ventricular fibrillation with prolonged qt interval ward romano syndrome ward-romano syndrome wrs
Orphanet	ORPHANET:101016
OMIM	OMIM:192500
DOID	DOID:2843
UMLS	C0035828
MeSH	D029597
SNOMED-CT	SNOMEDCT_US_2016_09_01:20852007
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) SNTA1 \| 6640 \| ORPHANET AKAP9 \| 10142 \| ORPHANET SCN4B \| 6330 \| ORPHANET NOS1AP \| 9722 \| ORPHANET KCNH2 \| 3757 \| ORPHANET KCNE1 \| 3753 \| ORPHANET CALM2 \| 805 \| CLINVAR;ORPHANET CALM1 \| 801 \| ORPHANET KCNE2 \| 9992 \| ORPHANET SCN5A \| 6331 \| ORPHANET KCNJ5 \| 3762 \| ORPHANET KCNQ1 \| 3784 \| CLINVAR;CTD_human;ORPHANET;UNIPROT CAV3 \| 859 \| ORPHANET ANK2 \| 287 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 3784 \| KCNQ1 \| DISEASES 7145 \| TNS1 \| DISEASES 6640 \| SNTA1 \| DISEASES 4849 \| CNOT3 \| DISEASES 4953 \| ODC1 \| DISEASES 10352 \| WARS2 \| DISEASES 114784 \| CSMD2 \| DISEASES 3759 \| KCNJ2 \| DISEASES 7263 \| TST \| DISEASES 3741 \| KCNA5 \| DISEASES 23647 \| ARFIP2 \| DISEASES 845 \| CASQ2 \| DISEASES 10021 \| HCN4 \| DISEASES 3757 \| KCNH2 \| DISEASES 3783 \| KCNN4 \| DISEASES 9132 \| KCNQ4 \| DISEASES 3553 \| IL1B \| DISEASES 9424 \| KCNK6 \| DISEASES 390 \| RND3 \| DISEASES 1950 \| EGF \| DISEASES 775 \| CACNA1C \| DISEASES 3067 \| HDC \| DISEASES 375 \| ARF1 \| DISEASES 2495 \| FTH1 \| DISEASES 84651 \| SPINK7 \| DISEASES 4851 \| NOTCH1 \| DISEASES 2620 \| GAS2 \| DISEASES 3763 \| KCNJ6 \| DISEASES 9992 \| KCNE2 \| DISEASES 6690 \| SPINK1 \| DISEASES 2619 \| GAS1 \| DISEASES 2923 \| PDIA3 \| DISEASES 2357 \| FPR1 \| DISEASES 3308 \| HSPA4 \| DISEASES 8436 \| SDPR \| DISEASES 3777 \| KCNK3 \| DISEASES 2243 \| FGA \| DISEASES 157570 \| ESCO2 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 10008 \| KCNE3 \| DISEASES 8906 \| AP1G2 \| DISEASES 54968 \| TMEM70 \| DISEASES 11238 \| CA5B \| DISEASES 3737 \| KCNA2 \| DISEASES 7156 \| TOP3A \| DISEASES 6330 \| SCN4B \| DISEASES 7485 \| WRB \| DISEASES 3739 \| KCNA4 \| DISEASES 6331 \| SCN5A \| DISEASES 2520 \| GAST \| DISEASES 3772 \| KCNJ15 \| DISEASES 6546 \| SLC8A1 \| DISEASES 2689 \| GH2 \| DISEASES 3751 \| KCND2 \| DISEASES 153571 \| C5orf38 \| DISEASES 51738 \| GHRL \| DISEASES 3753 \| KCNE1 \| DISEASES 10011 \| SRA1 \| DISEASES 8165 \| AKAP1 \| DISEASES 2309 \| FOXO3 \| DISEASES 5078 \| PAX4 \| DISEASES 875 \| CBS \| DISEASES 56479 \| KCNQ5 \| DISEASES 50488 \| MINK1 \| DISEASES 7453 \| WARS \| DISEASES 10142 \| AKAP9 \| DISEASES 287 \| ANK2 \| DISEASES 493 \| ATP2B4 \| DISEASES 2764 \| GMFB \| DISEASES 3785 \| KCNQ2 \| DISEASES 23607 \| CD2AP \| DISEASES 9722 \| NOS1AP \| DISEASES 7179 \| TPTE \| DISEASES 6262 \| RYR2 \| DISEASES 88 \| ACTN2 \| DISEASES 3775 \| KCNK1 \| DISEASES 4000 \| LMNA \| DISEASES 7062 \| TCHH \| DISEASES 153 \| ADRB1 \| DISEASES 1268 \| CNR1 \| DISEASES 8277 \| TKTL1 \| DISEASES 51750 \| RTEL1 \| DISEASES 55361 \| PI4K2A \| DISEASES 81030 \| ZBP1 \| DISEASES 6005 \| RHAG \| DISEASES 3745 \| KCNB1 \| DISEASES 9968 \| MED12 \| DISEASES 4303 \| FOXO4 \| DISEASES 7709 \| ZBTB17 \| DISEASES 85366 \| MYLK2 \| DISEASES 5293 \| PIK3CD \| DISEASES 56261 \| GPCPD1 \| DISEASES 3786 \| KCNQ3 \| DISEASES 208 \| AKT2 \| DISEASES 98 \| ACYP2 \| DISEASES 4145 \| MATK \| DISEASES 4357 \| MPST \| DISEASES 594857 \| NPS \| DISEASES 25780 \| RASGRP3 \| DISEASES 152 \| ADRA2C \| DISEASES 151126 \| ZNF385B \| DISEASES 7124 \| TNF \| DISEASES 284252 \| KCTD1 \| DISEASES 30819 \| KCNIP2 \| DISEASES 100506742 \| CASP12 \| DISEASES 7033 \| TFF3 \| DISEASES 4925 \| NUCB2 \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES 440823 \| MIAT \| DISEASES 196475 \| RMST \| DISEASES
Locus	(Waiting for update.)

Disease ID	702
Disease	long qt syndrome 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	702
Disease	long qt syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:45)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894252	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2570715	G	A,C
rs120074177	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2570682	G	A,C
rs120074178	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2570719	G	A,T
rs120074179	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572089	G	A,C,T
rs120074180	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572882	C	T
rs120074181	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572981	G	A,C
rs120074182	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2583448	C	T
rs120074183	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2585213	G	A
rs120074184	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2583453	G	A,C,T
rs120074185	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2776032	C	A,T
rs120074187	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572963	G	A
rs120074190	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2778009	G	A
rs120074191	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1;LOC105376521	11	2445448	C	T
rs120074193	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572870	G	A,C
rs120074194	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572871	G	A,T
rs12720449	NA	3784	KCNQ1	umls:C0035828	UNIPROT	NA	0.573049073	NA	KCNQ1	11	2588804	C	A,G,T
rs12720458	15840476	3784	KCNQ1	umls:C0035828	UNIPROT	A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.	0.573049073	2005	KCNQ1	11	2585264	A	G
rs12720459	24705789	3784	KCNQ1	umls:C0035828	BeFree	The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation.	0.573049073	2014	KCNQ1	11	2583535	C	A,G,T
rs12720459	19716085	3784	KCNQ1	umls:C0035828	UNIPROT	Retrospective analysis of the first 2,500 cases (1,515 female patients, average age at testing 23 +/- 17 years, range 0 to 90 years) scanned for mutations in 5 of the LQTS-susceptibility genes: KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6).	0.573049073	2009	KCNQ1	11	2583535	C	A,G,T
rs12720459	15840476	3784	KCNQ1	umls:C0035828	UNIPROT	A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.	0.573049073	2005	KCNQ1	11	2583535	C	A,G,T
rs12720459	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2583535	C	A,G,T
rs151344631	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2571333	G	A
rs17215500	22309168	3784	KCNQ1	umls:C0035828	BeFree	The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result in a complete loss of I(Ks) channel function.	0.573049073	2012	KCNQ1	11	2768881	C	G,T
rs17221854	NA	3784	KCNQ1	umls:C0035828	UNIPROT	NA	0.573049073	NA	KCNQ1	11	2777990	C	T
rs17221854	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2777990	C	T
rs179489	15840476	3784	KCNQ1	umls:C0035828	UNIPROT	A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.	0.573049073	2005	KCNQ1	11	2570652	G	C,A
rs1800171	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2583545	G	A,C
rs199472709	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2572021	G	A
rs199472776	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2587630	C	G,T
rs199473457	20850564	3784	KCNQ1	umls:C0035828	BeFree	R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.	0.573049073	2011	KCNQ1	11	2572020	C	T
rs199473480	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2776006	C	T
rs267607197	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2587690	G	A
rs387906290	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2583434	G	C
rs397508097	22309168	3784	KCNQ1	umls:C0035828	BeFree	The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result in a complete loss of I(Ks) channel function.	0.573049073	2012	KCNQ1	11	2768917	C	T
rs397508115	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1	11	2570683	C	GG
rs398124647	NA	805	CALM2	umls:C0035828	CLINVAR	NA	0.24	NA	CALM2	2	47161851	T	C,A
rs398124648	NA	805	CALM2	umls:C0035828	CLINVAR	NA	0.24	NA	CALM2	2	47161748	A	C
rs398124649	NA	805	CALM2	umls:C0035828	CLINVAR	NA	0.24	NA	CALM2	2	47161737	T	G
rs398124650	NA	805	CALM2	umls:C0035828	CLINVAR	NA	0.24	NA	CALM2	2	47161744	C	G
rs587776555	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1;LOC105376521	11	2445309	GCCGCGCCC	-
rs74315445	16914890	9132	KCNQ4	umls:C0035828	BeFree	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.	0.000271442	2006	KCNE1	21	34449409	C	T
rs74315445	16914890	3753	KCNE1	umls:C0035828	BeFree	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.	0.121628651	2006	KCNE1	21	34449409	C	T
rs74315446	16914890	3753	KCNE1	umls:C0035828	BeFree	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.	0.121628651	2006	KCNE1	21	34449414	G	A
rs74315446	16914890	9132	KCNQ4	umls:C0035828	BeFree	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.	0.000271442	2006	KCNE1	21	34449414	G	A
rs794728583	NA	3784	KCNQ1	umls:C0035828	CLINVAR	NA	0.573049073	NA	KCNQ1;LOC105376521	11	2445462	-	T

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0035828	halofantrine	C023768	36167-63-2	romano-ward syndrome	MESH:D029597	marker/mechanism	8009050

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)