Details of Disease | DrugMAP

General Information of Disease (ID: DISAUZDF)

Disease Name	Platelet-type von Willebrand disease
Synonyms	pseudo-VON WILLEBRAND disease; platelet-type bleeding disorder 3; Von Willebrand disease, Platelet-type; VWDP; Von Willebrand disease, platelet type; bleeding disorder, Platelet-type, 3; pseudo-von Willebrand disease type 2B; pseudo-von Willebrand disease; von Willebrand disease platelet-type; BDPLT3; platelet type-von Willebrand disease; platelet-type von Willebrand disease; PT-VWD
Definition	A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.\|Editor note: check relationship to vWD
Disease Hierarchy	DIS0XCII: Hereditary von Willebrand disease DISIUNXT: Inherited bleeding disorder, platelet-type DISAUZDF: Platelet-type von Willebrand disease
Disease Identifiers	MONDO ID MONDO_0008332 MESH ID C536458 UMLS CUI C1280798 OMIM ID 177820 MedGen ID 226914 Orphanet ID 52530 SNOMED CT ID 128115005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GP1BA	TTVB0Q9	Strong	Genetic Variation	[1]
GP1BA	TTVB0Q9	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GP1BA	OT62PSOB	Definitive	Autosomal dominant	[2]
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References

1	Mechanisms of thrombocytopenia in platelet-type von Willebrand disease.Haematologica. 2019 Jul;104(7):1473-1481. doi: 10.3324/haematol.2018.200378. Epub 2019 Jan 17.
2	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.