ORPHA:727192
Calmodulin-related isolated congenital long QT syndrome
Synonyms: Calmodulin-related isolated congenital LQTS
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Calmodulin-related isolated congenital long QT syndrome | Calmodulin-related isolated congenital LQTS |
| fr | Syndrome du QT long congénital isolé associés aux calmodulines | LQTS congénital isolé associés aux calmodulines |
| de | Calmodulin-assoziiertes isoliertes kongenitales Long-QT-Syndrom | |
| es | Síndrome de QT largo congénito aislado asociado a la calmodulina | SQTL aislado congénito asociado a la calmodulina |
| it | Sindrome del QT lungo congenita isolata correlata alla calmodulina | LQTS congenita isolata correlata alla calmodulina |
| nl | Calmoduline-gerelateerd geïsoleerd congenitaal lang-QT-syndroom | Calmoduline-gerelateerd geïsoleerd congenitaal LQTS |
| pt | Calmodulin-related isolated congenital long QT syndrome | |
| pl | Calmodulin-related isolated congenital long QT syndrome | = en |
| cs | Calmodulin-related isolated congenital long QT syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616247 | BTNT | validated | |
| OMIM | 616249 | BTNT | validated | |
| OMIM | 618782 | BTNT | 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:101016Isolated congenital long QT syndrome
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CALM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1442 | ENSG00000198668 | 114180 | 14q32.11 | calmodulin 1 | 23388215[PMID]_24076290[PMID] |
| CALM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1445 | ENSG00000143933 | 114182 | 2p21 | calmodulin 2 | 23388215[PMID]_24917665[PMID] |
| CALM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1449 | ENSG00000160014 | 114183 | 19q13.32 | calmodulin 3 | 31170290[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727192
- This record as JSON: /data/d/727192.json