loading...| Preferred Name |
LONG QT SYNDROME 5 |
| Synonyms |
LQT5 |
| ID |
http://purl.bioontology.org/ontology/OMIM/613695 |
| altLabel |
LQT5 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO LONG QT SYNDROME 2/5, DIGENIC LQT2/5, DIGENIC |
| cui |
C1867904 C3279092 C3150956 |
| Gene Locus |
21q22.1-q22.2 |
| Gene Symbol |
LQT5 JLNS2 JLNS KCNE1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005010 http://purl.bioontology.org/ontology/OMIM/MTHU005008 http://purl.bioontology.org/ontology/OMIM/MTHU005011 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
613695 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LONG QT SYNDROME 5 |
| Scope Statement |
Homozygous mutation of KCNE1 causes Jervell and Lange-Nielsen syndrome (176261.0001) [MISCELLANEOUS] Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1, 176261.0003) [MOLECULAR BASIS] GEI (gene-environment interaction) - association of cardiac events with drug administration [MISCELLANEOUS] Patients with more severe phenotype have been reported with mutations in more than 1 LQT-related gene [MISCELLANEOUS] Genetic heterogeneity (see LQT1 192500) [MISCELLANEOUS] |
| tui |
T033 T047 |