ORPHA:1019
Epstein syndrome
inactive · moved to ORPHA:182050MYH9-related syndromic thrombocytopenia
Synonyms: Alport syndrome with macrothrombocytopenia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epstein syndrome | Alport syndrome with macrothrombocytopenia |
| fr | Syndrome d'Epstein | Syndrome d'Alport avec plaquettes géantes |
| de | Epstein-Syndrom | Alport-Syndrom mit Makrothrombozytopenie |
| es | Síndrome de Epstein | Síndrome de Alport con plaquetas gigantes |
| it | Sindrome di Epstein | Sindrome di Alport con macrotrombocitopenia |
| nl | Syndroom van Epstein | Syndroom van Alport met macrotrombocytopenie |
| pt | Síndrome Epstein | Síndrome Alport com macrotrombocitopenia |
| pl | Zespół Epsteina | Zespół Alporta z makrotrombocytopenią |
| cs | Epsteinův syndrom | Alportův syndrom provázený makrotrombocytopenií |
| uk | Синдром Епштейна | Синдром Альпорта з макротромбоцитопенією |
| zh | Epstein 综合征 | Alport综合征伴巨血小板减少症 |
| tr | Epstein sendromu | Makrotrombositopenili Alport sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C0398641 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/1019
- This record as JSON: /data/d/1019.json