Jervell and Lange-Nielsen syndrome 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
JLNS2 |
Number of Symptoms | 0 |
OrphanetNr: | |
OMIM Id: |
612347
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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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:
Associated genes:
KCNE1; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |