Von Willebrand disease (Q39579): Difference between revisions
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Doença causada por mutações genéticas hereditárias. Essa doença é caracterizada por anormalidades quantitativas, estruturais ou funcionais do fator de von Willebrand, levando a anormalidades na coagulação sanguínea. Pode apresentar-se com sangramento prolongado, equimoses e hematomas espontâneos, ou gengivorragia. A confirmação é feita pela identificação de mutação por testagem genética. | |||
| description / en | description / en | ||
A disease caused by inherited genetic mutations. This disease is characterised by quantitative, structural or function abnormalities of von Willebrand factor leading to abnormalities in coagulation of the blood. This disease may present with prolonged bleeding, easy bruising or bleeding gums. Confirmation is by identification of mutation through genetic testing. | |||
Revision as of 05:03, 13 August 2026
A disease caused by inherited genetic mutations. This disease is characterised by quantitative, structural or function abnormalities of von Willebrand factor leading to abnormalities in coagulation of the blood. This disease may present with prolonged bleeding, easy bruising or bleeding gums. Confirmation is by identification of mutation through genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3B12 |
||
| English | Von Willebrand disease |
A disease caused by inherited genetic mutations. This disease is characterised by quantitative, structural or function abnormalities of von Willebrand factor leading to abnormalities in coagulation of the blood. This disease may present with prolonged bleeding, easy bruising or bleeding gums. Confirmation is by identification of mutation through genetic testing. |
