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Jervell and Lange-Nielsen syndrome
2 OMIM references -
2 associated genes
9 connected diseases
No signs/symptoms info
Disease Type of connection
Romano-Ward syndrome
Familial atrial fibrillation
Familial short QT syndrome
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant hypohidrotic ectodermal dysplasia
Benign familial infantile seizures
Benign familial neonatal seizures
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
Synonym(s):
- Long QT interval - deafness
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D029593
Gene symbol UniProt reference OMIM reference
KCNE1 P15382176261
KCNQ1 P51787607542
No signs/symptoms info available.