ORPHA:101016
Isolated congenital long QT syndrome
Synonyms: Romano-Ward long QT syndrome · Isolated congenital LQTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital long QT syndrome | Romano-Ward long QT syndrome · Isolated congenital LQTS |
| fr | Syndrome du QT long congénital isolé | Syndrome du QT long Romano-Ward · LQTS congénital isolé |
| de | Isoliertes kongenitales Long-QT-Syndrom | LQTS, isoliertes kongenitales · Romano-Ward-Syndrom · RWS · Romano-Ward Long-QT-Syndrom |
| es | Síndrome de QT largo congénito aislado | Síndrome de QT largo de Romano-Ward · SQTL congénito aislado |
| it | Sindrome del QT lungo congenita isolata | LQTS isolata congenita · Sindrome del QT lungo di Romano-Ward |
| nl | Geïsoleerd congenitaal lang-QT-syndroom | Geïsoleerd congenitaal LQTS · Lang-QT-syndroom van Romano-Ward |
| pt | Síndrome do QT longo de Romano-Ward | |
| pl | Zespół Romano i Warda | Zespół wydłużonego QT Romano i Warda |
| cs | Romanův-Wardův syndrom | Romanův-Wardův syndrom dlouhého QT · Romano-Wardův syndrom · Romano-Wardův syndrom dlouhého QT |
| uk | Синдром Романо-Уорда | Синдром подовженого інтервалу QT Романо-Уорда |
| zh | Romano-Ward综合征 | Romano-Ward长QT综合征 |
| tr | Romano-Ward sendromu | Romano-Ward uzun QT sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192500 | E | validated | |
| OMIM | 600919 | BTNT | validated | |
| OMIM | 603830 | BTNT | validated | |
| OMIM | 611818 | BTNT | validated | |
| OMIM | 611819 | BTNT | validated | |
| OMIM | 611820 | 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 | 618782 | BTNT | validated | |
| ICD-10 | I49.8 | NTBT | attributed | validated |
| ICD-11 | BC65.0 | NTBT | attributed | validated |
| MeSH | D029597 | E | validated | |
| UMLS | C4551647 | E | validated | |
| GARD | 3284 | E | validated | |
| MedDRA | 10039211 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:768Congenital long QT syndrome
rare cardiac diseases; rare genetic diseases
Children (9):
- ORPHA:727156CACNA1C-related isolated congenital Long QT syndrome
- ORPHA:727192Calmodulin-related isolated congenital long QT syndrome
- ORPHA:727126Isolated congenital long QT syndrome without known causative genetic defect
- ORPHA:727185KCNE1-related isolated congenital long QT syndrome
- ORPHA:727178KCNE2-related isolated congenital long QT syndrome
- ORPHA:727149KCNH2-related isolated congenital long QT syndrome
- ORPHA:727141KCNQ1-related isolated congenital long QT syndrome
- ORPHA:727203SCN5A-related isolated congenital long QT syndrome
- ORPHA:727163TRDN-related isolated congenital long QT syndrome
4
Genes
0 direct · 10 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SCN5A | ORPHA:727203SCN5A-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 20301308[PMID]_24093767[PMID] |
| KCNE1 | ORPHA:727185KCNE1-related isolated congenital long QT syndrome | 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 | 20301308[PMID]_24093767[PMID] |
| KCNE2 | ORPHA:727178KCNE2-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6242 | ENSG00000159197 | 603796 | 21q22.11 | potassium voltage-gated channel subfamily E regulatory subunit 2 | 20301308[PMID]_24093767[PMID] |
| KCNH2 | ORPHA:727149KCNH2-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6251 | ENSG00000055118 | 152427 | 7q36.1 | potassium voltage-gated channel subfamily H member 2 | 20301308[PMID]_24093767[PMID] |
| KCNQ1 | ORPHA:727141KCNQ1-related isolated congenital long QT syndrome | 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 | 20301308[PMID]_24093767[PMID] |
| CACNA1C | ORPHA:727156CACNA1C-related isolated congenital Long QT syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 23677916[PMID] |
| CALM1 | ORPHA:727192Calmodulin-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:1442 | ENSG00000198668 | 114180 | 14q32.11 | calmodulin 1 | 23388215[PMID]_24076290[PMID] |
| CALM2 | ORPHA:727192Calmodulin-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:1445 | ENSG00000143933 | 114182 | 2p21 | calmodulin 2 | 23388215[PMID]_24917665[PMID] |
| CALM3 | ORPHA:727192Calmodulin-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:1449 | ENSG00000160014 | 114183 | 19q13.32 | calmodulin 3 | 31170290[PMID] |
| TRDN | ORPHA:727163TRDN-related isolated congenital long QT syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:12261 | ENSG00000186439 | 603283 | 6q22.31 | triadin | 25922419[PMID]_27807201[PMID]_27041150[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 40 / 100 000 | Europe | 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.
6
HPO phenotypes
13 annotations · validated 2019-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005184 | Prolonged QTc interval | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0001688 | Sinus bradycardia | |
| HP:0001279 | Syncope | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0500018 | Abnormal cardiac exercise stress test | |
| HP:0001250 | Seizure | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001664 | Torsade de pointes | |
| HP:0004308 | Ventricular arrhythmia | |
| Very rare (<4-1%) | ||
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0002900 | Hypokalemia | |
| Excluded (0%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18606002[PMID]_17192539[PMID]_8058139[PMID]_23511927[PMID]_14136838[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101016
- This record as JSON: /data/d/101016.json