Jervell and Lange-Nielsen syndrome
Synonyms: Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare severe familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jervell and Lange-Nielsen syndrome | Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome |
| fr | Syndrome de Jervell et Lange-Nielsen | Syndrome de long QT-surdité |
| de | Jervell-Lange-Nielsen-Syndrom | QT-Intervall, verlängertes - Schwerhörigkeit |
| es | Síndrome de Jervell y Lange-Nielsen | Síndrome de intervalo QT largo-hipoacusia · Síndrome de intervalo QT largo-sordera |
| it | Sindrome di Jervell e Lange-Nielsen | |
| nl | Syndroom van Jervell en Lange-Nielsen | Lang QT-interval - doofheid-syndroom · Lang QT-interval - gehoorverlies-syndroom |
| pt | Intervalo QT longo - surdez | |
| pl | Zespół Jervella i Lange-Nielsena | Wydłużone interwały QT - głuchota |
| cs | Jervellův a Lange-Nielsenův syndrom | Syndrom zahrnující dlouhý QT interval a hluchotu |
| uk | Синдром Джервелла та Ланге-Нільсена | Синдром подовженого інтервалу QT-глухоти · Синдром подовженого інтервалу QT - втрата слуху |
| zh | Jervell和Lange-Nielsen综合征 | 长QT间期-听觉丧失综合征 |
| tr | Jervell ve Lange-Nielsen sendromu | Uzun QT aralığı-sağırlık sendromu · Uzun QT aralığı-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220400 | E | validated | |
| OMIM | 612347 | BTNT | validated | |
| ICD-10 | I49.8 | NTBT | attributed | validated |
| ICD-11 | BC65.0 | NTBT | index | validated |
| MONDO | 0002441 | E | validated | |
| MeSH | D029593 | E | validated | |
| UMLS | C0022387 | E | validated | |
| GARD | 3048 | E | validated | |
| MedDRA | 10057936 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:768Congenital long QT syndrome
rare cardiac diseases; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNE1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6240 | ENSG00000180509 | 176261 | 21q22.12 | potassium voltage-gated channel subfamily E regulatory subunit 1 | 20301579[PMID]_24093767[PMID] |
| KCNQ1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6294 | ENSG00000053918 | 607542 | 11p15.5-p15.4 | potassium voltage-gated channel subfamily Q member 1 | 20301579[PMID]_24093767[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2019-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0011476 | Profound sensorineural hearing impairment | |
| HP:0005184 | Prolonged QTc interval | |
| Frequent (79-30%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0007185 | Loss of consciousness | |
| HP:0030973 | Postexertional malaise | |
| HP:0001279 | Syncope | |
| HP:0001664 | Torsade de pointes | |
| Occasional (29-5%) | ||
| HP:0001891 | Iron deficiency anemia | |
| HP:0001250 | Seizure | |
| HP:0001663 | Ventricular fibrillation | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301308[PMID]_30406014[PMID]_30725985[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90647
- This record as JSON: /data/d/90647.json