Long qt syndrome 11

Preferred Label : Long qt syndrome 11;

Symbol : LQT11;

CISMeF acronym : LQT11;

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 A-kinase anchor protein 9 gene (AKAP9, 604001.0001);

Prefixed ID : #611820;

Details

Origin ID

611820;

UMLS CUI

C2678483;

Automatic exact mappings (from CISMeF team)
- A-kinase anchoring protein 9 [ORDO Gene]
- A-kinase anchoring protein 9 [HGNC gene]
- AKAP9 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
CISMeF manual mappings
- long QT syndrome type 11 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Long QT Syndrome 11 [NCIt concept]
- Long QT syndrome type 11 (disorder) [SNOMED CT concept]
- long QT syndrome 11 [DO Concept]
- long qt syndrome 11 [MeSH concept]
- long qt syndrome 11 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 11 [DO Concept]
Genes related to phenotype
- A-kinase anchor protein 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Prolonged QT interval [HPO term]
- Syncope [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 11 [NCIt concept]
- long QT syndrome 11 [DO Concept]
- long QT syndrome type 11 [Disease (Nov.)]
- long qt syndrome 11 [MeSH Supplementary Concept]
- long qt syndrome 11 [MeSH concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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