Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome
Definition
An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.
Also known as Jervell and Lange Nielsen syndrome, Jervell Lange-Nielsen syndrome, long QT interval-deafness syndrome — per MONDO
Also identified as
- DOID 2842 per MONDO
- MESH D029593 per MONDO
- NCIT C84793 per MONDO
- Orphanet 90647 per MONDO
- SCTID 373905003 per MONDO
- UMLS C0022387 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Cardiovascular system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Cardiovascular system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Respiratory system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |