Long QT syndrome 11
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LQT11 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
611820
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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:
| LQT11 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:
| AKAP9; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| AKAP9 | rs121908566 | pathogenic | RCV000006241.3 |
| AKAP9 | rs730880043 | likely pathogenic | RCV000157100.1 |
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 |
In a 13-year-old Caucasian girl with LQT11, who was negative for mutation in the known LQT genes, Chen et al. (2007) identified heterozygosity for a ser1570-to-leu (S1570L; 604001.0001) substitution in the AKAP9 gene. The patient's father and 2 ... |