ORPHA:728619
Early repolarization syndrome
Synonyms: Haïssaguerre syndrome · ERS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early repolarization syndrome | Haïssaguerre syndrome · ERS |
| fr | Syndrome de repolarisation précoce | ERS · Syndrome de Haïssaguerre |
| de | Frühes Repolarisationssyndrom | Frühe Repolarisation · Haïssaguerre-Syndrom · ERS |
| es | Síndrome de repolarización precoz | Síndrome de Haïssaguerre · SRP · ERS |
| it | Sindrome da ripolarizzazione precoce | ERS · Sindrome di Haïssaguerre |
| nl | Vroege repolarisatie-syndroom | ERS · Syndroom van Haïssaguerre |
| pt | Early repolarization syndrome | |
| pl | Early repolarization syndrome | = en |
| cs | Early repolarization syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC9 | Major susceptibility factor in | Assessed | HGNC:60 | ENSG00000069431 | 601439 | 12p12.1 | ATP binding cassette subfamily C member 9 | 24439875[PMID] |
| KCNJ8 | Major susceptibility factor in | Assessed | HGNC:6269 | ENSG00000121361 | 600935 | 12p12.1 | potassium inwardly rectifying channel subfamily J member 8 | 22562657[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Worldwide | Value and class | 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/728619
- This record as JSON: /data/d/728619.json