Platelet storage pool disease
General Information (adopted from Orphanet):
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Synonyms, Signs:
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SPD
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Number of Symptoms
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11
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OrphanetNr:
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98454
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OMIM Id:
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185050
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare hemorrhagic disorder due to a constitutional thrombocytopenia
-Rare genetic disease
-Rare hematologic disease
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1
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(HPO:0001892)
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Abnormal bleeding |
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85 / 7739
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2
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(HPO:0002863)
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Myelodysplasia |
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30 / 7739
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3
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(HPO:0005537)
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Decreased mean platelet volume |
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7 / 7739
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4
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(HPO:0002488)
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Acute leukemia |
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29 / 7739
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5
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(HPO:0003010)
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Prolonged bleeding time |
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88 / 7739
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6
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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7
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(OMIM)
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Impaired release of platelet adenosine diphosphate (ADP) |
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1 / 7739
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8
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(OMIM)
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Mild-moderate bleeding tendencies |
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1 / 7739
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9
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(MedDRA:10035517)
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Platelet aggregation decreased |
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1 / 7739
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10
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(OMIM)
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Absent platelet dense bodies |
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1 / 7739
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11
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(OMIM)
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Mild-moderate prolonged bleeding time |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |