Long qt syndrome 2

Preferred Label : Long qt syndrome 2;

Symbol : LQT2;

CISMeF acronym : LQT2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 1/2, digenic; Long qt syndrome 2/3, digenic; Long qt syndrome 2/5, digenic; Long qt syndrome 2/9, digenic; LQT1/2, DIGENIC; LQT2/3, DIGENIC; LQT2/5, DIGENIC; LQT2/9, 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, subfamily H, member 2 gene or human ether-a-go-go related gene (KCNH2, 152427.0001);

Prefixed ID : #613688;

Détails

Origin ID

613688;

UMLS CUI

C3150943;

CISMeF manual mappings
- long QT syndrome type 2 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Long QT Syndrome 2 [NCIt concept]
- Long QT syndrome type 2 [ICD-11 More detail]
- Long QT syndrome type 2 (disorder) [SNOMED CT concept]
- long QT syndrome 2 [DO Concept]
- long qt syndrome 2 [MeSH concept]
- long qt syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 2 [DO Concept]
Genes related to phenotype
- Alg10 alpha-1,2-glucosyltransferase b [OMIM gene]
- Potassium channel, voltage-gated, subfamily h, 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 2 [NCIt concept]
- long QT syndrome 2 [DO Concept]
- long QT syndrome type 2 [Disease (Nov.)]
- long qt syndrome 2 [MeSH Supplementary Concept]
- long qt syndrome 2 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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