Long QT syndrome 5
General Information (adopted from Orphanet):
Synonyms, Signs: |
LQT5 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED LONG QT SYNDROME 2/5, DIGENIC, INCLUDED LQT2/5, DIGENIC, INCLUDED LQT5 |
Number of Symptoms | 0 |
OrphanetNr: | |
OMIM Id: |
613695
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant 20301308 [IBIS] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Romano-Ward syndrome
-Rare cardiac disease -Rare genetic disease |
Comment:
LQT5 is a sub-type of Romano-Ward syndrome, a variant of familial long QT syndrome. For symptom annotation please refer to Romano-Ward syndrome. |
Symptom Information:
Associated genes:
KCNE1; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
KCNE1 | rs74315446 | pathogenic | RCV000014421.25 |
Additional Information:
Description: (OMIM) | Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death (Jongbloed et al., 1999). |
Genotype-Phenotype Correlations OMIM |
Westenskow et al. (2004) analyzed the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes in 252 probands with long QT syndrome and identified 19 with biallelic mutations in LQTS genes, of whom 18 were either compound (monogenic) or double ... |
Molecular genetics OMIM |
In affected members of 2 families with long QT syndrome, Splawski et al. (1997) identified heterozygosity for different missense mutations in the KCNE1 gene (176261.0003-176261.0004). Splawski et al. (2000) screened 262 unrelated individuals with LQT syndrome ... |