Jervell and lange-nielsen syndrome 1

Preferred Label : Jervell and lange-nielsen syndrome 1;

Symbol : JLNS1;

CISMeF acronym : JLNS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, congenital, and functional heart disease; Prolonged qt interval in ekg and sudden death; Cardioauditory syndrome of jervell and lange-nielsen; Surdo-cardiac syndrome; JLNS;

Description : The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 192500.0013);

Prefixed ID : #220400;

Details

Origin ID

220400;

UMLS CUI

C4551509;

Automatic exact mappings (from CISMeF team)
- KCNQ1 wt Allele [NCIt 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)
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cardioauditory syndrome [ICD-11 More detail]
- Jervell Lange Nielsen syndrome [Disease (Nov.)]
- Jervell and Lange Nielsen Syndrome [NCIt concept]
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
- Jervell and Lange-Nielsen syndrome [MedDRA LLT]
- Jervell and Lange-Nielsen syndrome [PASCAL descriptor]
- Jervell and Lange-Nielsen syndrome (disorder) [SNOMED CT concept]
- Jervell-Lange Nielsen syndrome [DO Concept]
- Jervell-Lange nielsen syndrome [MeSH Descriptor]
- Jervell-Lange nielsen syndrome [MeSH concept]
- jervell and lange-nielson syndrome [SNOMED Notion]
DO Cross reference
- Jervell-Lange Nielsen syndrome [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Heterogeneous [HPO term]
- Prolonged QT interval [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Torsade de pointes [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jervell and Lange Nielsen Syndrome [NCIt concept]
- Jervell and Lange-Nielsen syndrome [MedDRA LLT]
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
- Jervell and Lange-Nielsen syndrome [PASCAL descriptor]
- Jervell and Lange-Nielsen syndrome (disorder) [SNOMED CT concept]
- Jervell-Lange Nielsen syndrome [DO Concept]
- Jervell-Lange nielsen syndrome [MeSH Descriptor]
- Jervell-Lange nielsen syndrome [MeSH concept]
- jervell and lange-nielson syndrome [SNOMED Notion]

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