eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| long qt syndrome 1 | ||||
| Disease ID | 1142 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0035828 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:14) 3784 | KCNQ1 | CLINVAR;CTD_human;ORPHANET;UNIPROT 859 | CAV3 | ORPHANET 3757 | KCNH2 | ORPHANET 6331 | SCN5A | ORPHANET 6330 | SCN4B | ORPHANET 6640 | SNTA1 | ORPHANET 3762 | KCNJ5 | ORPHANET 3753 | KCNE1 | ORPHANET 9992 | KCNE2 | ORPHANET 9722 | NOS1AP | ORPHANET 801 | CALM1 | ORPHANET 287 | ANK2 | ORPHANET 10142 | AKAP9 | ORPHANET 805 | CALM2 | CLINVAR;ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 88 | ACTN2 | 2.041 | DISEASES 98 | ACYP2 | 2.333 | DISEASES 152 | ADRA2C | 2.13 | DISEASES 153 | ADRB1 | 1.719 | DISEASES 8165 | AKAP1 | 1.986 | DISEASES 10142 | AKAP9 | 3.606 | DISEASES 208 | AKT2 | 2.021 | DISEASES 287 | ANK2 | 4.836 | DISEASES 493 | ATP2B4 | 1.786 | DISEASES 153571 | C5orf38 | 1.553 | DISEASES 100506742 | CASP12 | 1.647 | DISEASES 875 | CBS | 1.095 | DISEASES 23607 | CD2AP | 2.259 | DISEASES 1268 | CNR1 | 1.488 | DISEASES 2309 | FOXO3 | 1.748 | DISEASES 4303 | FOXO4 | 2.491 | DISEASES 2520 | GAST | 2.427 | DISEASES 2689 | GH2 | 2.465 | DISEASES 51738 | GHRL | 1.131 | DISEASES 2764 | GMFB | 2.663 | DISEASES 56261 | GPCPD1 | 2.148 | DISEASES 3739 | KCNA4 | 1.502 | DISEASES 3745 | KCNB1 | 1.456 | DISEASES 3751 | KCND2 | 2.306 | DISEASES 3753 | KCNE1 | 6.502 | DISEASES 30819 | KCNIP2 | 1.991 | DISEASES 3772 | KCNJ15 | 2.538 | DISEASES 3775 | KCNK1 | 2.238 | DISEASES 10984 | KCNQ1OT1 | 1.399 | DISEASES 3785 | KCNQ2 | 1.641 | DISEASES 3786 | KCNQ3 | 1.198 | DISEASES 56479 | KCNQ5 | 2.791 | DISEASES 284252 | KCTD1 | 1.882 | DISEASES 4000 | LMNA | 1.244 | DISEASES 4145 | MATK | 1.326 | DISEASES 9968 | MED12 | 1.134 | DISEASES 440823 | MIAT | 2.579 | DISEASES 50488 | MINK1 | 2.634 | DISEASES 4357 | MPST | 1.976 | DISEASES 85366 | MYLK2 | 2.68 | DISEASES 9722 | NOS1AP | 1.64 | DISEASES 594857 | NPS | 1.797 | DISEASES 4925 | NUCB2 | 1.826 | DISEASES 5078 | PAX4 | 1.186 | DISEASES 55361 | PI4K2A | 3.783 | DISEASES 5293 | PIK3CD | 2.362 | DISEASES 25780 | RASGRP3 | 2.231 | DISEASES 6005 | RHAG | 1.042 | DISEASES 196475 | RMST | 2.519 | DISEASES 51750 | RTEL1 | 1.19 | DISEASES 6262 | RYR2 | 2.889 | DISEASES 6330 | SCN4B | 2.285 | DISEASES 6331 | SCN5A | 5.891 | DISEASES 6546 | SLC8A1 | 2.414 | DISEASES 10011 | SRA1 | 1.285 | DISEASES 7062 | TCHH | 1.104 | DISEASES 7033 | TFF3 | 2.275 | DISEASES 8277 | TKTL1 | 1.203 | DISEASES 7124 | TNF | 1.13 | DISEASES 7156 | TOP3A | 1.042 | DISEASES 7179 | TPTE | 1.799 | DISEASES 7453 | WARS | 4.271 | DISEASES 7485 | WRB | 1.859 | DISEASES 81030 | ZBP1 | 1.631 | DISEASES 7709 | ZBTB17 | 2.209 | DISEASES 151126 | ZNF385B | 2.788 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1142 |
|---|---|
| Disease | long qt syndrome 1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1142 |
|---|---|
| Disease | long qt syndrome 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| KCNQ1 | Het del exon 7–10 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| KCNQ1 | Het del exon 3 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| KCNQ1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1142 |
|---|---|
| Disease | long qt syndrome 1 |
| Case | (Waiting for update.) |