Long qt syndrome 13

Preferred Label : Long qt syndrome 13;

Symbol : LQT13;

CISMeF acronym : LQT13;

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 member-5 subfamily-J inwardly rectifying potassium channel gene (KCNJ5, 600734.0001);

Prefixed ID : #613485;

Details

Origin ID

613485;

UMLS CUI

C3150733;

Automatic exact mappings (from CISMeF team)
- KCNJ5 wt Allele [NCIt concept]
- potassium inwardly rectifying channel subfamily J member 5 [ORDO Gene]
- potassium inwardly rectifying channel subfamily J member 5 [HGNC gene]
Currated CISMeF NLP mapping
- Long QT syndrome type 13 (disorder) [SNOMED CT concept]
- Long QT syndrome, type 13 [ICD-11 More detail]
- long QT syndrome 13 [DO Concept]
DO Cross reference
- long QT syndrome 13 [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 5 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Congestive heart failure [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Hypertension [HPO term]
- Paroxysmal atrial fibrillation [HPO term]
- Prolonged QT interval [HPO term]
- Pulmonary embolism [HPO term]
- Syncope [HPO term]
- Tachycardia [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 13 [DO Concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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