loading...| Preferred Name |
LONG QT SYNDROME 1 |
|
| Synonyms |
LQT1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/192500 |
|
| altLabel |
LQT1 LQT1/2, DIGENIC LONG QT SYNDROME 1/2, DIGENIC WARD-ROMANO SYNDROME LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL ROMANO-WARD SYNDROME RWS WRS |
|
| cui |
C1843738 C4551647 C3277700 |
|
| Gene Locus |
11p15.5 |
|
| Gene Symbol |
ATFB3 SQT2 KCNQ1 KCNA9 KVLQT1 LQT1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU005011 http://purl.bioontology.org/ontology/OMIM/MTHU000053 http://purl.bioontology.org/ontology/OMIM/MTHU005009 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
192500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LONG QT SYNDROME 1 |
|
| Scope Statement |
Patients with a more severe phenotype have been reported with mutations in more than 1 LQTS-related gene [MISCELLANEOUS] Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 607542.0001) [MOLECULAR BASIS] GEI (gene-environment interaction) - association of cardiac events with drug administration [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Association of cardiac events with exercise [MISCELLANEOUS] |
|
| tui |
T047 T033 |