Long qt syndrome 9

Preferred Label : Long qt syndrome 9;

Symbol : LQT9;

CISMeF acronym : LQT9;

Type : Phenotype, molecular basis known;

Included titles and symbols : Long qt syndrome 2/9, digenic; LQT2/9, DIGENIC; Long qt syndrome 9, acquired, susceptibility to;

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 caveolin 3 gene (CAV3, 601253.0016);

Laboratory abnormalities : Marked increase in late sodium current on voltage-clamp studies;

Prefixed ID : #611818;

Details

Origin ID

611818;

UMLS CUI

C2678485;

Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- long QT syndrome 9 [DO Concept]
- long qt syndrome 9 [MeSH concept]
- long qt syndrome 9 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 9 [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Prolonged QT interval [HPO term]
- Sinus bradycardia [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Romano-Ward syndrome [ORDO Disease]
See also inter- (CISMeF)
- caveolin 3 [ORDO Gene]
- caveolin 3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- long QT syndrome 9 [DO Concept]
- long qt syndrome 9 [MeSH Supplementary Concept]
- long qt syndrome 9 [MeSH concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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