Long QT syndrome 12
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LQT12 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
612955
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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:
| LQT12 is a sub-type of Romano-Ward syndrome, a variant of the familial long QT syndrome. For symptom annotation please refer to Romano-Ward syndrome. |
Symptom Information:
Associated genes:
| SNTA1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| SNTA1 | rs121434500 | pathogenic | RCV000008997.3 |
| SNTA1 | rs56157422 | pathogenic | RCV000191018.2 |
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). |
| Molecular genetics OMIM |
Ueda et al. (2008) analyzed the SNTA1 gene (601017) in 50 unrelated patients with long QT syndrome (LQTS) who were negative for mutations in the 11 known LQTS genes and identified a mutation (A390V; 601017.0001) in 1 patient. ... |