GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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137560
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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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No data available.
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1
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(HPO:0002239)
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Gastrointestinal hemorrhage |
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97 / 7739
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2
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(HPO:0000978)
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Bruising susceptibility |
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123 / 7739
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3
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(HPO:0001873)
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Thrombocytopenia |
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224 / 7739
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4
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(HPO:0001902)
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Giant platelets |
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11 / 7739
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5
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(HPO:0006298)
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Prolonged bleeding after dental extraction |
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3 / 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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Prolonged hemorrhage after extraction of teeth |
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1 / 7739
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8
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(OMIM)
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Post-vasectomy hematomas |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |