Long qt syndrome 3

Preferred Label : Long qt syndrome 3;

Symbol : LQT3;

CISMeF acronym : LQT3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 3, acquired, susceptibility to; Long qt syndrome 2/3, digenic; Long qt syndrome 3/6, digenic; LQT2/3, 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 sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0001);

Prefixed ID : #603830;

Details

Origin ID

603830;

UMLS CUI

C1859062;

Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
CISMeF manual mappings
- long QT syndrome type 3 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Long QT Syndrome 3 [NCIt concept]
- long QT syndrome 3 [DO Concept]
- long qt syndrome 3 [MeSH concept]
- long qt syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 3 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 5 [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]
See also inter- (CISMeF)
- Long QT syndrome type 3 [MeSH concept]
- SCN5A wt Allele [NCIt concept]
- long QT syndrome type 3 [MeSH Supplementary Concept]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- sodium voltage-gated channel alpha subunit 5 [HGNC gene]
- symbol withdrawn LQT3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long QT Syndrome 3 [NCIt concept]
- long QT syndrome 3 [DO Concept]
- long qt syndrome 3 [MeSH Supplementary Concept]
- long qt syndrome 3 [MeSH concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients