Details of Disease

General Information of Disease (ID: DISUGLZA)

Disease Name Von Willebrand disease 1
Synonyms
VWD, type 1; Von Willebrand disease, type 1; VON WILLEBRAND disease, type 1; von Willebrand disease type 1; VWD type 1; VWD1; von Willebrand disease 1; von Willebrand's disease type 1; von Willebrand disease type I; von willebrand's disease 1
Definition
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
Disease Hierarchy
DIS0XCII: Hereditary von Willebrand disease
DISUGLZA: Von Willebrand disease 1
Disease Identifiers
MONDO ID
MONDO_0008668
MESH ID
D056725
UMLS CUI
C1264039
OMIM ID
193400
MedGen ID
220393
Orphanet ID
166078
SNOMED CT ID
128106003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VWF OTNMMA2P Strong Autosomal dominant [1]
CLEC4M OT2WUIIP Strong Genetic Variation [8]
COX8A OTU0NR39 Strong Altered Expression [9]
PFDN5 OTTKPTUP Strong Biomarker [10]
STX2 OTO2IDDR Strong Genetic Variation [11]
STXBP5 OTE3M7QB Strong Genetic Variation [8]
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⏷ Show the Full List of 6 DOT(s)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F8 TT1290U Limited Biomarker [2]
ADAMTS13 TTUREBK Strong Biomarker [3]
F11 TTDM4ZU Strong Biomarker [4]
GP6 TTTJUVZ Strong Biomarker [5]
PTGIR TTOFYT1 Strong Biomarker [6]
STAB2 TTM3DAY Strong Genetic Variation [7]
VWF TT3SZBT Strong Autosomal dominant [1]
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⏷ Show the Full List of 7 DTT(s)

References

1 Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000 Jan;83(1):136-40.
2 The Course of von Willebrand Factor and Factor VIII Activity in Patients with von Willebrand Disease during Pregnancy.Acta Haematol. 2019;142(2):71-78. doi: 10.1159/000496820. Epub 2019 May 14.
3 Insights into von Willebrand factor proteolysis: clinical implications.Br J Haematol. 2006 Jun;133(5):457-67. doi: 10.1111/j.1365-2141.2006.06096.x.
4 High prevalence of acquired von Willebrand's syndrome in patients with thyroid diseases undergoing thyroid surgery.Haematologica. 2004 Nov;89(11):1341-6.
5 An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees.Blood. 2004 Oct 15;104(8):2359-67. doi: 10.1182/blood-2004-01-0349. Epub 2004 Jun 29.
6 Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.PLoS One. 2015 Dec 2;10(12):e0143913. doi: 10.1371/journal.pone.0143913. eCollection 2015.
7 The endothelial cell receptor stabilin-2 regulates VWF-FVIII complex half-life and immunogenicity. J Clin Invest. 2018 Aug 31;128(9):4057-4073.
8 Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients.PLoS One. 2018 Feb 1;13(2):e0192024. doi: 10.1371/journal.pone.0192024. eCollection 2018.
9 von Willebrand factor and factor VIII levels after desmopressin are associated with bleeding phenotype in type 1 VWD.Blood Adv. 2019 Dec 23;3(24):4147-4154. doi: 10.1182/bloodadvances.2019000863.
10 Severe postpartum haemorrhage as first presenting symptom of an inherited bleeding disorder.Haemophilia. 2019 Nov;25(6):1051-1058. doi: 10.1111/hae.13846. Epub 2019 Oct 3.
11 Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.PLoS One. 2012;7(7):e40624. doi: 10.1371/journal.pone.0040624. Epub 2012 Jul 6.