HEMOPHILIA A WITH VASCULAR ABNORMALITY
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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306800
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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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X-linked 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:0005261)
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Joint hemorrhage |
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17 / 7739
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2
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(HPO:0001379)
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Degenerative joint disease |
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8 / 7739
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3
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(HPO:0002239)
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Gastrointestinal hemorrhage |
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97 / 7739
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4
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(HPO:0000978)
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Bruising susceptibility |
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123 / 7739
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5
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(HPO:0003125)
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Reduced factor VIII activity |
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13 / 7739
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6
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(HPO:0001934)
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Persistent bleeding after trauma |
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8 / 7739
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7
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(HPO:0005542)
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Prolonged whole-blood clotting time |
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5 / 7739
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8
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(OMIM)
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Prolonged whole-blood clotting time in severe hemophilia |
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1 / 7739
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9
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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10
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(MedDRA:10035530)
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Platelet count normal |
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9 / 7739
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11
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(OMIM)
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Antihemophilic globulin (factor VIII) deficiency |
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1 / 7739
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12
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(MedDRA:10005139)
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Bleeding time normal |
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2 / 7739
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13
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(OMIM)
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Normal whole-blood clotting time in mild cases |
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1 / 7739
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14
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(MedDRA:10007191)
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Capillary fragility |
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1 / 7739
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15
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(OMIM)
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Ecchymoses common |
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3 / 7739
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16
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(OMIM)
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Normal platelet function |
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4 / 7739
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17
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(OMIM)
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Petechiae and purpura do not occur |
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3 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |