Long QT syndrome 13

General Information (adopted from Orphanet):

Synonyms, Signs: LQT13
Number of Symptoms 0
OrphanetNr:
OMIM Id: 613485
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
20301308 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial long QT syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

LQT13 is a sub-type of familial long QT syndrome. For symptom annotation please refer to familial long QT syndrome.

Symptom Information: Sort by abundance 

Associated genes:

KCNJ5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
KCNJ5 rs199830292 pathogenic RCV000009405.4

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).
Clinical Description OMIM Yang et al. (2010) studied a large, 4-generation Chinese family segregating autosomal dominant long QT syndrome (LQTS). The proband was a 62-year-old woman who had a 40-year history of syncopal episodes. Comprehensive clinical evaluation included an echocardiogram that ...
Molecular genetics OMIM In a large, 4-generation Chinese family with autosomal dominant long QT syndrome mapping to chromosome 11q23.3-q23.4, Yang et al. (2010) sequenced the candidate gene KCNJ5 and identified heterozygosity for a missense mutation (G387R; 600734.0001) in affected individuals. The ...