Long qt syndrome 12

Preferred Label : Long qt syndrome 12;

Symbol : LQT12;

CISMeF acronym : LQT12;

Type : Phenotype, molecular basis known;

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 alpha-1 syntrophin gene (SNTA1, 601017.0001);

Prefixed ID : #612955;

Détails

Origin ID

612955;

UMLS CUI

C2751830;

Automatic exact mappings (from CISMeF team)
- syntrophin alpha 1 [ORDO Gene]
- syntrophin alpha 1 [HGNC gene]
Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Long QT Syndrome 12 [NCIt concept]
- Long Qt Syndrome 1-2 [MeSH concept]
- Long Qt Syndrome 1-2 [MeSH Supplementary Concept]
- long QT syndrome 12 [DO Concept]
- long qt syndrome 12 [MeSH concept]
- long qt syndrome 12 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 12 [DO Concept]
Genes related to phenotype
- Syntrophin, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Prolonged QTc interval [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 12 [NCIt concept]
- long QT syndrome 12 [DO Concept]
- long qt syndrome 12 [MeSH Supplementary Concept]
- long qt syndrome 12 [MeSH concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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

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