BLEEDING DISORDER, PLATELET-TYPE, 17
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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17
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OrphanetNr:
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OMIM Id:
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187900
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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
Autosomal recessive inheritance
[Omim]
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Age of onset:
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Infantile onset
[Omim]
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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:0000421)
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Epistaxis |
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85 / 7739
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2
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(HPO:0002239)
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Gastrointestinal hemorrhage |
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97 / 7739
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3
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(HPO:0000978)
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Bruising susceptibility |
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123 / 7739
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4
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(HPO:0011974)
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Myelofibrosis |
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6 / 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:0001892)
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Abnormal bleeding |
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85 / 7739
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7
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(HPO:0001873)
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Thrombocytopenia |
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224 / 7739
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8
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(HPO:0001872)
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Abnormality of thrombocytes |
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20 / 7739
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9
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(HPO:0003337)
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Reduced prothrombin consumption |
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2 / 7739
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10
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(HPO:0003828)
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Variable expressivity |
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130 / 7739
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11
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(OMIM)
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Normal platelet numbers |
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1 / 7739
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12
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(OMIM)
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Marrow shows normal or increased megakaryocytes with little or no sign of active thrombopoiesis |
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1 / 7739
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13
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(OMIM)
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Platelet vacuoles and abnormal granules by EM |
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1 / 7739
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14
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(OMIM)
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Negative tourniquet test |
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1 / 7739
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15
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(HPO:0003593)
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Infantile onset |
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249 / 7739
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16
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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17
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |