Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B12 Von Willebrand disease
H02092 von Willebrand disease
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H02092 von Willebrand disease
Hemophilia A (HEMA) Hemophilia B (HEMB) von Willebrand disease (VWD) [DS:H02092] von Willebrand disease, platelet-type [DS:H02093]
Description
Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Von Willebrand disease is caused by quantitative and/or qualitative defects of von Willebrand factor and inherited in both autosomal dominant and recessive manner.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B10 Hereditary factor VIII deficiency
H00219 Hemophilia
3B11 Hereditary factor IX deficiency
H00219 Hemophilia
3B12 Von Willebrand disease
H00219 Hemophilia
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H00219 Hemophilia
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
Title
Genetic diagnosis of haemophilia and other inherited bleeding disorders.
