ORPHA:220436
Quebec platelet disorder
Synonyms: Factor V Quebec
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Quebec platelet disorder | Factor V Quebec |
| fr | Syndrome plaquettaire du Québec | Anomalie du FV plaquettaire · Anomalie du facteur V plaquettaire · Thrombopathie du Québec |
| de | Quebec-Platelet-Syndrom | Faktor V-Quebec · Quebec Plättchen-Störung |
| es | Enfermedad plaquetaria de Quebec | = en |
| it | Malattia delle piastrine del Quebec | Fattore V del Quebec |
| nl | Quebec-bloedplaatjesstoornis | = en |
| pt | Disfunção plaquetária do Quebec | |
| pl | Skaza krwotoczna płytkowa Quebec | Czynnik V Quebec |
| cs | Quebecký destičkový syndrom | Quebecký faktor V |
| uk | Квебекська хвороба тромбоцитів | Фактор V Квебек |
| zh | Quebec血小板疾病 | Quebec凝血因子V |
| tr | Quebec trombosit bozukluğu | Faktör V Quebec |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601709 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.00 | NTBT | index | validated |
| MONDO | 0011136 | E | validated | |
| MeSH | C536260 | E | validated | |
| UMLS | C1866423 | E | validated | |
| GARD | 8345 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLAU | Disease-causing germline mutation(s) in | Assessed | HGNC:9052 | ENSG00000122861 | 191840 | 10q22.2 | plasminogen activator, urokinase | 20007542[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.45 / 100 000 | Specific population | Value and class | Validated | 21495923[PMID]_22102275[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Canada | Value and class | Validated | 18988861[PMID]_21495923[PMID]_22102275[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.
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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/220436
- This record as JSON: /data/d/220436.json