Details of Disease | DrugMAP

General Information of Disease (ID: DISLHZRK)

Disease Name	Von Willebrand disease type 2B
Synonyms	von Willebrand disease type 2B; von Willebrand disease, type 2B
Definition	A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
Disease Hierarchy	DISEYUBR: Von Willebrand disease 2 DISLHZRK: Von Willebrand disease type 2B
Disease Identifiers	MONDO ID MONDO_0015629 MESH ID D056728 UMLS CUI C1282971 MedGen ID 224831 Orphanet ID 166087 SNOMED CT ID 359717002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWF	OTNMMA2P	Definitive	Autosomal dominant	[1]
PRB2	OTAD4JZ0	Limited	Genetic Variation	[5]
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This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS13	TTUREBK	Strong	Genetic Variation	[2]
F8	TT1290U	Strong	Genetic Variation	[3]
GP1BA	TTVB0Q9	Strong	Biomarker	[4]
VWF	TT3SZBT	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B.Blood. 2010 Jun 10;115(23):4870-7. doi: 10.1182/blood-2009-11-254193. Epub 2010 Mar 3.
3	Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.Platelets. 2017 Dec;28(8):825-828. doi: 10.1080/09537104.2017.1293811. Epub 2017 Apr 24.
4	A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.J Thromb Haemost. 2017 Sep;15(9):1867-1877. doi: 10.1111/jth.13775. Epub 2017 Aug 9.
5	von Willebrand factor mutation promotes thrombocytopathy by inhibiting integrin IIb3.J Clin Invest. 2013 Dec;123(12):5071-81. doi: 10.1172/JCI69458. Epub 2013 Nov 25.