Quebec platelet disorder
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BDPLT5 BLEEDING DISORDER, PLATELET-TYPE, 5 QPD factor v quebec |
| Number of Symptoms | 22 |
| OrphanetNr: | 220436 |
| OMIM Id: |
601709
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| ICD-10: |
D69.1 |
| UMLs: |
C1866423 |
| MeSH: |
C536260 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alpha granule disease
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0000132) | Menorrhagia | 40 / 7739 | ||||
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(HPO:0000421) | Epistaxis | 85 / 7739 | ||||
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(HPO:0005261) | Joint hemorrhage | 17 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0008148) | Impaired epinephrine-induced platelet aggregation | 3 / 7739 | ||||
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(OMIM) | Moderate-severe bleeding tendencies (epistaxis, menorrhagia, hemarthrosis, easy bruisability) | 1 / 7739 | ||||
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(OMIM) | Degraded platelet alpha-granule proteins | 1 / 7739 | ||||
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(OMIM) | Decreased multimerin | 1 / 7739 | ||||
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(OMIM) | Normal von Willebrand factor | 1 / 7739 | ||||
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(OMIM) | Mild thrombocytopenia | 5 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Absent platelet aggregation response to epinephrine | 1 / 7739 | ||||
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(OMIM) | Normal platelet fibrinogen | 1 / 7739 | ||||
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(OMIM) | Mildly decreased to low-normal platelet count (80-150 x 10(9)/L) | 1 / 7739 | ||||
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(OMIM) | Normal thrombospondin | 1 / 7739 | ||||
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(OMIM) | Increased platelet content of PLAU | 1 / 7739 | ||||
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(OMIM) | Reduced platelet aggregation response to adenosine 5'-diphosphate (ADP) | 1 / 7739 | ||||
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(OMIM) | Bleeding time normal to mildly prolonged | 1 / 7739 | ||||
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(OMIM) | Normal beta-thromboglobulin | 1 / 7739 | ||||
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(OMIM) | Normal platelet aggregation response to ristocetin and arachidonic acid (AA) | 1 / 7739 | ||||
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(MedDRA:10060221) | Platelet morphology normal | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the ... |
| Clinical Description OMIM |
Hayward et al. (1996) described an autosomal dominant bleeding disorder in a Quebec family that was associated with reduced to normal platelet counts, defective epinephrine aggregation, and multiple glycoprotein abnormalities. This disorder had previously been designated as factor ... |
| Molecular genetics OMIM |
In 38 patients with Quebec platelet disorder, Paterson et al. (2010) identified a heterozygous 78-kb tandem duplication of the PLAU gene (191840.0002). The authors postulated that the duplication resulted in increased PLAU expression, which has been found in ... |
| Population genetics OMIM | Diamandis et al. (2009) stated that Quebec platelet disorder has a prevalence of 1 in 300,000 in Quebec, Canada. |