Jervell and Lange-Nielsen syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: JLNS2
Number of Symptoms 0
OrphanetNr:
OMIM Id: 612347
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Jervell and Lange-Nielsen syndrome
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Comment:

Jervell and Lange-Nielsen syndrome 1 is a sub-type of Jervell and Lange-Nielsen syndrome. For symptom annotation please see Jervell and Lange-Nielsen syndrome.

Symptom Information: Sort by abundance 

Associated genes:

KCNE1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness. For a complete phenotypic description of JLNS, see 220400.
Molecular genetics OMIM In a small consanguineous British family in which the JLNS phenotype had been mapped to chromosome 21, Tyson et al. (1997) detected a homozygous mutation in the KCNE1 gene (176261.0001). The KCNE1 gene encodes a transmembrane protein that ...