von Willebrand disease type 2M(VWD2M)

MedGen UID:: 266186
•Concept ID:: C1282974
•: Disease or Syndrome

Synonym:	VWD2M
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0015630
OMIM®:	613160; 613554
Orphanet:	ORPHA166090

Definition

A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Rare hemorrhagic disorder due to a constitutional coagulation factors defect
- Hereditary von Willebrand disease
  - von Willebrand disease type 2
    - von Willebrand disease type 2M

Follow this link to review classifications for von Willebrand disease type 2M in Orphanet.

Professional guidelines

PubMed

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Comment from Woods et al.

Woods AI, Paiva J, Primrose DM, Blanco AN, Sanchez-Luceros A
J Thromb Haemost 2022 Apr;20(4):1022-1023. doi: 10.1111/jth.15644. PMID: 35307945

"Von Willebrand disease type 2M: Correlation between genotype and phenotype": Comment from Favaloro.

Favaloro EJ
J Thromb Haemost 2022 Apr;20(4):1019-1021. doi: 10.1111/jth.15645. PMID: 35307944

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM, Atiq F, Blijlevens NMA, Brons PPT, Krouwel S, Laros-van Gorkom BAP, Leebeek FWG, Nieuwenhuizen L, Schoormans SCM, Simons A, Meijer D, van Heerde WL, Schols SEM
J Thromb Haemost 2022 Feb;20(2):316-327. Epub 2021 Nov 21 doi: 10.1111/jth.15586. PMID: 34758185 Free PMC Article

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Recent clinical studies

Diagnosis

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ
Acta Haematol 2009;121(2-3):145-53. Epub 2009 Jun 8 doi: 10.1159/000214855. PMID: 19506361

Autosomal dominant von Willebrand disease type 2M.

Hermans C, Batlle J
Acta Haematol 2009;121(2-3):139-44. Epub 2009 Jun 8 doi: 10.1159/000214854. PMID: 19506360

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Therapy

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ
Acta Haematol 2009;121(2-3):145-53. Epub 2009 Jun 8 doi: 10.1159/000214855. PMID: 19506361

DDAVP treatment in a child with von Willebrand disease type 2M.

Mauz-Körholz C, Budde U, Körholz D, Göbel U
Eur J Pediatr 1999 Dec;158 Suppl 3:S174-6. doi: 10.1007/pl00014349. PMID: 10650863

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