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Von Willebrand disease, X-linked form

MedGen UID:
333255
•Concept ID:
C1839113
•
Disease or Syndrome
Synonym: Von Willebrand Disease, X-Linked Form
 
Monarch Initiative: MONDO:0010756
OMIM®: 314560

Clinical features

From HPO
Prolonged bleeding time
MedGen UID:
56231
•Concept ID:
C0151529
•
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
See: Feature record | Search on this feature
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Immune complications and their management in inherited and acquired bleeding disorders.
Arruda VR, Lillicrap D, Herzog RW
Blood 2022 Sep 8;140(10):1075-1085. doi: 10.1182/blood.2022016530. PMID: 35793465Free PMC Article

Recent clinical studies

Etiology

Immune complications and their management in inherited and acquired bleeding disorders.
Arruda VR, Lillicrap D, Herzog RW
Blood 2022 Sep 8;140(10):1075-1085. doi: 10.1182/blood.2022016530. PMID: 35793465Free PMC Article
Genetic sequence analysis of inherited bleeding diseases.
Peyvandi F, Kunicki T, Lillicrap D
Blood 2013 Nov 14;122(20):3423-31. Epub 2013 Oct 11 doi: 10.1182/blood-2013-05-505511. PMID: 24124085Free PMC Article
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.
Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, Arezzi N, Ambaglio C, Savoia A, Balduini CL
Haematologica 2004 Oct;89(10):1219-25. PMID: 15477207

Diagnosis

Genetic sequence analysis of inherited bleeding diseases.
Peyvandi F, Kunicki T, Lillicrap D
Blood 2013 Nov 14;122(20):3423-31. Epub 2013 Oct 11 doi: 10.1182/blood-2013-05-505511. PMID: 24124085Free PMC Article
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A
Hum Genet 2012 Dec;131(12):1821-32. Epub 2012 Aug 11 doi: 10.1007/s00439-012-1215-x. PMID: 22886561
Genetic diagnosis of haemophilia and other inherited bleeding disorders.
Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM
Haemophilia 2006 Jul;12 Suppl 3:82-9. doi: 10.1111/j.1365-2516.2006.01263.x. PMID: 16684001
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.
Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, Arezzi N, Ambaglio C, Savoia A, Balduini CL
Haematologica 2004 Oct;89(10):1219-25. PMID: 15477207
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
Wise RJ, Ewenstein BM, Gorlin J, Narins SC, Jesson M, Handin RI
Hum Genet 1993 May;91(4):367-72. doi: 10.1007/BF00217358. PMID: 8500791

Therapy

Immune complications and their management in inherited and acquired bleeding disorders.
Arruda VR, Lillicrap D, Herzog RW
Blood 2022 Sep 8;140(10):1075-1085. doi: 10.1182/blood.2022016530. PMID: 35793465Free PMC Article

Clinical prediction guides

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.
Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, Arezzi N, Ambaglio C, Savoia A, Balduini CL
Haematologica 2004 Oct;89(10):1219-25. PMID: 15477207
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
Wise RJ, Ewenstein BM, Gorlin J, Narins SC, Jesson M, Handin RI
Hum Genet 1993 May;91(4):367-72. doi: 10.1007/BF00217358. PMID: 8500791

Supplemental Content

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