ORPHA:370127
Medich giant platelet syndrome
Synonyms: Medich macrothrombocytopenia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medich giant platelet syndrome | Medich macrothrombocytopenia |
| fr | Macrothrombocytopénie de Medich | |
| de | Medich Giant-Platelet-Syndrom | Macrothrombocytopenia Medich |
| es | Síndrome de plaquetas gigantes de Medich | Macrotrombocitopenia de Medich |
| it | Sindrome delle piastrine giganti di Medich | Macrotrombocitopenia di Medich |
| nl | Reuzenbloedplaatjessyndroom, Medich-type | Macrotrombocytopenie van Medich · Reuzentrombocytensyndroom van Medich |
| pt | Síndrome de plaquetas gigantesMedich | |
| pl | Zespół olbrzymich płytek Medicha | Makrotrombocytopenia Medicha |
| cs | Medichův syndrom obrovských destiček | Medichova makrotrombocytopenie |
| uk | Синдром гігантських тромбоцитів Медіча | Макротромбоцитопенія Медича |
| zh | 巨大血小板综合征 | Medich巨血小板减少症 |
| tr | Medich dev trombosit sendromu | Medich makrotrombositopeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | attributed | validated |
| MONDO | 0018268 | E | validated | |
| UMLS | C4305375 | 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
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98455Alpha granule disease
rare genetic diseases; rare hematological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22931192[PMID]_15370096[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/370127
- This record as JSON: /data/d/370127.json