Details of Disease

General Information of Disease (ID: DIS7S2QL)

Disease Name Von Willebrand disease type 2N
Synonyms von Willebrand disease Normandy variant; von Willebrand disease, type 2N
Definition
Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
Disease Hierarchy
DISEYUBR: Von Willebrand disease 2
DIS7S2QL: Von Willebrand disease type 2N
Disease Identifiers
MONDO ID
MONDO_0015631
MESH ID
D056728
UMLS CUI
C1282975
MedGen ID
266187
Orphanet ID
166093
SNOMED CT ID
359732009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VWF OTNMMA2P Supportive Autosomal recessive [1]
ACADVL OT50L4XB Strong Genetic Variation [4]
COX8A OTU0NR39 Strong Biomarker [5]
HADHA OTO557N2 Strong Genetic Variation [4]
OTOA OTBTEFIE Strong Genetic Variation [4]
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This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F8 TT1290U Limited Biomarker [2]
VWF TT3SZBT Supportive Autosomal recessive [1]
VWF TT3SZBT Strong Biomarker [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TGM5 DEW8QEH Strong Genetic Variation [4]
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References

1 von Willebrand Disease. 2009 Jun 4 [updated 2017 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Identifying carriers of type 2N von Willebrand disease: procedures and significance.Clin Appl Thromb Hemost. 2007 Apr;13(2):194-200. doi: 10.1177/1076029606299000.
3 Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.Int J Hematol. 2020 Mar;111(3):369-377. doi: 10.1007/s12185-019-02782-z. Epub 2019 Nov 18.
4 Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
5 Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.J Thromb Haemost. 2017 Aug;15(8):1607-1619. doi: 10.1111/jth.13749. Epub 2017 Jul 17.