Long qt syndrome 6

Preferred Label : Long qt syndrome 6;

Symbol : LQT6;

CISMeF acronym : LQT6;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 6, acquired, susceptibility to; Long qt syndrome 3/6, digenic; LQT3/6, DIGENIC;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, Isk-related family, member 2 gene (KCNE2, 603796.0001);

Prefixed ID : #613693;

Details

Origin ID

613693;

UMLS CUI

C3150953;

Automatic exact mappings (from CISMeF team)
- potassium voltage-gated channel subfamily E regulatory subunit 2 [ORDO Gene]
- potassium voltage-gated channel subfamily E regulatory subunit 2 [HGNC gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 6 [ICD-11 More detail]
- Long QT syndrome type 6 (disorder) [SNOMED CT concept]
- long QT syndrome 6 [DO Concept]
- long qt syndrome 6 [MeSH concept]
- long qt syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 6 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, isk-related subfamily, member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Prolonged QT interval [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Torsade de pointes [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Romano-Ward syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- long QT syndrome 6 [DO Concept]
- long qt syndrome 6 [MeSH Supplementary Concept]
- long qt syndrome 6 [MeSH concept]

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