Long qt syndrome 5

Preferred Label : Long qt syndrome 5;

Symbol : LQT5;

CISMeF acronym : LQT5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 5, acquired, susceptibility to; Long qt syndrome 2/5, digenic; LQT2/5, 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 subfamily, member 1 gene (KCNE1, 176261.0003);

Prefixed ID : #613695;

Details

Origin ID

613695;

UMLS CUI

C1867904;

Automatic exact mappings (from CISMeF team)
- potassium voltage-gated channel subfamily E regulatory subunit 1 [ORDO Gene]
- potassium voltage-gated channel subfamily E regulatory subunit 1 [HGNC gene]
Currated CISMeF NLP mapping
- Long QT Syndrome 5 [NCIt concept]
- Long QT syndrome type 5 [ICD-11 More detail]
- Long QT syndrome type 5 (disorder) [SNOMED CT concept]
- long QT syndrome 5 [DO Concept]
- long qt syndrome 5 [MeSH concept]
- long qt syndrome 5 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 5 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, isk-related subfamily, member 1 [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 5 [NCIt concept]
- long QT syndrome 5 [DO Concept]
- long qt syndrome 5 [MeSH Supplementary Concept]
- long qt syndrome 5 [MeSH concept]

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