Von Willebrand disease type 2M (Q100614)
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Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterised by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding anomalies (menorrhagia, epistaxis, gastrointestinal haemorrhage etc.). Type 2M VWD is caused by mutations in the VWF gene and transmission is autosomal dominant.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1358085002 |
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| English | Von Willebrand disease type 2M |
Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterised by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding anomalies (menorrhagia, epistaxis, gastrointestinal haemorrhage etc.). Type 2M VWD is caused by mutations in the VWF gene and transmission is autosomal dominant. |
