ORPHA:768
Congenital long QT syndrome
Synonyms: Congenital LQTS
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital long QT syndrome | Congenital LQTS |
| fr | Syndrome du QT long congénital | LQTS congénital |
| de | Long-QT-Syndrom, kongenitales | LQTS |
| es | Síndrome de QT largo congénito | SQTL congénito |
| it | Sindrome del QT lungo familiare | |
| nl | Congenitaal lange-QT-syndroom | Congenitaal LQTS |
| pt | Síndrome QT longo familiar congénito | LQTS congénito |
| pl | Rodzinny zespół wydłużonego odcinka QT | Wrodzony zespół wydłużonego odcinka QT |
| cs | Syndrom dlouhého QT intervalu | Syndrom vrozeného dlouhého QT intervalu |
| uk | Сімейний синдром подовженого інтервалу QT | Вроджений синдром подовженого інтервалу QT · LQTS |
| zh | 家族性长QT综合征 | 先天性长QT间期综合征 |
| tr | Ailesel uzun QT sendromu | Doğumsal uzun QT sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192500 | BTNT | validated | |
| OMIM | 220400 | BTNT | validated | |
| OMIM | 600919 | BTNT | validated | |
| OMIM | 601005 | BTNT | validated | |
| OMIM | 603830 | BTNT | validated | |
| OMIM | 611818 | BTNT | validated | |
| OMIM | 611819 | BTNT | validated | |
| OMIM | 611820 | BTNT | validated | |
| OMIM | 612347 | BTNT | validated | |
| OMIM | 612955 | BTNT | validated | |
| OMIM | 613485 | BTNT | validated | |
| OMIM | 613688 | BTNT | validated | |
| OMIM | 613693 | BTNT | validated | |
| OMIM | 613695 | BTNT | validated | |
| OMIM | 616247 | BTNT | validated | |
| OMIM | 616249 | BTNT | validated | |
| OMIM | 618447 | BTNT | validated | |
| ICD-11 | BC65.0 | E | specific | validated |
| MONDO | 0019171 | E | validated | |
| MONDO | 19171 | E | validated | |
| UMLS | C1141890 | E | validated | |
| MedDRA | 10057926 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/768
- This record as JSON: /data/d/768.json