Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease | |
| fr | Trouble héréditaire de conduction cardiaque infra-Hisienne avec tachyarythmie atriale | |
| de | Familiäre atriale Tachyarrhythmie mit infrahissärer Leitungsstörung | |
| es | Enfermedad de conducción cardíaca infrahisiana-taquiarritmia auricular hereditaria | |
| it | Tachiaritmia atriale e difetto della conduzione cardiaca intra-hissiano familiare | |
| nl | Hereditaire atriale tachyaritmie - infra-Hisiaanse hartgeleidingsziekte | Erfelijke atriale tachyaritmie met hartgeleidingsdefect in of onder bundel van His |
| pt | Taquiarritmia auricular familiar-doença de condução cardíaca infra-Hisiana | |
| pl | Rodzinny częstoskurcz przedsionkowy-zaburzenia przewodzenia poniżej pęczka Hisa | |
| cs | Familiární atriální tachyarytmie a infrahisální porucha vedení | Familiární síňová tachyarytmie a infrahisální porucha vedení |
| uk | Сімейна передсердна тахіаритмія - інфра-гізіанська хвороба серцевої провідності | |
| zh | 家族性房性心律失常-下希氏束心脏传导性疾病 | |
| tr | Ailesel atriyal taşiaritmi-infra-Hisian kardiyak iletim hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616117 | E | validated | |
| ICD-10 | I45.8 | NTBT | attributed | validated |
| ICD-11 | BC63.Y | NTBT | attributed | validated |
| UMLS | C5681182 | 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 (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNNI3K | Disease-causing germline mutation(s) in | Assessed | HGNC:19661 | ENSG00000116783 | 613932 | 1p31.1 | TNNI3 interacting kinase | 24925317[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24925317[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24925317[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436242
- This record as JSON: /data/d/436242.json