Long qt syndrome 1

Preferred Label : Long qt syndrome 1;

Symbol : LQT1;

CISMeF acronym : LQT1; RWS; WRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ward-romano syndrome; Romano-ward syndrome; Ventricular fibrillation with prolonged qt interval; WRS; RWS;

Included titles and symbols : Long qt syndrome 1/2, digenic; Long qt syndrome 1, acquired, susceptibility to; LQT1/2, 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). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). - Genetic Heterogeneity of Long QT Syndrome There are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (613688) is caused by mutation in the KCNH2 gene (152427), LQT3 (603830) is caused by mutation in the SCN5A gene (600163), LQT4 (see 600919) is caused by mutation in the ANK2 gene (106410), LQT5 is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 192500.0001);

Prefixed ID : #192500;

Details

Origin ID

192500;

UMLS CUI

C4551647;

Automatic exact mappings (from CISMeF team)
- EIF2AK3 wt Allele [NCIt concept]
- Jervell-Lange nielsen syndrome [MeSH Descriptor]
- KCNQ1 wt Allele [NCIt concept]
- Long QT syndrome type 1 [ICD-11 More detail]
- Wolcott-Rallison syndrome [ORDO Disease]
- long QT syndrome [DO Concept]
- potassium voltage-gated channel subfamily Q member 1 [ORDO Gene]
- potassium voltage-gated channel subfamily Q member 1 [HGNC gene]
Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Long QT Syndrome 1 [NCIt concept]
- Romano Ward syndrome [Disease (Nov.)]
- Romano Ward syndrome [MedDRA LLT]
- Romano-Ward syndrome [MeSH concept]
- Romano-Ward syndrome [ORDO Disease]
- Romano-Ward syndrome (disorder) [SNOMED CT concept]
- long QT syndrome 1 [DO Concept]
- romano-ward syndrome [MeSH Descriptor]
- romano-ward syndrome [SNOMED Notion]
DO Cross reference
- long QT syndrome 1 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Prolonged QT interval [HPO term]
- Prolonged QTc interval [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Torsade de pointes [HPO term]
- Ventricular fibrillation [HPO term]
Not associated HPO term(s)
- Hearing abnormality [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 1 [NCIt concept]
- Romano Ward syndrome [MedDRA LLT]
- Romano-Ward syndrome [ORDO Disease]
- Romano-Ward syndrome [MeSH concept]
- Romano-Ward syndrome (disorder) [SNOMED CT concept]
- romano-ward syndrome [SNOMED Notion]
- romano-ward syndrome [MeSH Descriptor]

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