Jervell and lange-nielsen syndrome 2

Preferred Label : Jervell and lange-nielsen syndrome 2;

Symbol : JLNS2;

CISMeF acronym : JLNS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1, 176261.0001);

Prefixed ID : #612347;

Details

Origin ID

612347;

UMLS CUI

C2676723;

Automatic exact mappings (from CISMeF team)
- potassium voltage-gated channel subfamily E regulatory subunit 1 [ORDO Gene]
- potassium voltage-gated channel subfamily E regulatory subunit 1 [HGNC gene]
Broader ORDO disease(s)
- Jervell and Lange-Nielsen syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- jervell and Lange-Nielsen syndrome 2 [MeSH concept]
- jervell and Lange-Nielsen syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Jervell-Lange Nielsen syndrome [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, isk-related 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]
- Sensorineural hearing impairment [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 2 [MeSH Supplementary Concept]
- jervell and Lange-Nielsen syndrome 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients