Von Willebrand disease
Synonyms: Hereditary pseudohaemophilia · Hereditary von Willebrand disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Willebrand disease | Hereditary pseudohaemophilia · Hereditary von Willebrand disease |
| fr | Maladie de von Willebrand | Maladie de von Willebrand constitutionnelle · Maladie de von Willebrand héréditaire |
| de | Von-Willebrand-Erkrankung | Hereditäre Pseudohämophilie · Hereditäres von-Willebrand-Syndrom · Von-Willebrand-Syndrom · VWE |
| es | Enfermedad de Von Willebrand | Enfermedad de von Willebrand hereditaria · Pseudohemofilia hereditaria |
| it | Malattia di Von Willebrand | Pseudoemofilia ereditaria · Malattia di Willebrand ereditaria · Malattia di Willebrand |
| nl | Ziekte van Von Willebrand | Erfelijke ziekte van Willebrand · Hereditaire pseudohemofilie |
| pt | Doença de von Willebrand | Doença de Willebrand |
| pl | Choroba Von Willebranda | Choroba Willebrand · Dziedziczna choroba Willebranda |
| cs | Von Willebrandova choroba | Dědičná von Willebrandova choroba |
| uk | Хвороба фон Віллебранда | Спадкова хвороба фон Віллебранда |
| zh | 血管性血友病 | 遗传性von Willebrand 病 |
| tr | Von Willebrand hastalığı | Kalıtsal von Willebrand hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193400 | BTNT | validated | |
| OMIM | 277480 | BTNT | validated | |
| OMIM | 314560 | BTNT | validated | |
| OMIM | 613554 | BTNT | validated | |
| ICD-10 | D68.0 | E | specific | validated |
| ICD-11 | 3B12 | E | specific | validated |
| MONDO | 0019565 | E | validated | |
| MONDO | 19565 | E | validated | |
| MeSH | D014842 | E | validated | |
| UMLS | C0042974 | E | validated | |
| GARD | 7867 | E | validated | |
| MedDRA | 10047715 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| VWF | ORPHA:166078Von Willebrand disease type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12726 | ENSG00000110799 | 613160 | 12p13.31 | von Willebrand factor | 20301765[PMID] |
| VWF | ORPHA:166096Von Willebrand disease type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12726 | ENSG00000110799 | 613160 | 12p13.31 | von Willebrand factor | 20301765[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Worldwide | Value and class | Validated | 10959685[PMID]_19874468[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2023-08-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011869 | Abnormal platelet function | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0008330 | Reduced von Willebrand factor activity | |
| Frequent (79-30%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0000471 | Gastrointestinal angiodysplasia | |
| HP:0030129 | Impaired ristocetin cofactor assay activity | |
| HP:0000132 | Menorrhagia | |
| HP:0003125 | Reduced factor VIII activity | |
| Occasional (29-5%) | ||
| HP:0004097 | Deviation of finger | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0005261 | Joint hemorrhage | |
| HP:0001935 | Microcytic anemia | |
| HP:0040242 | Muscle hemorrhage | |
| HP:0000967 | Petechiae | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0001873 | Thrombocytopenia | |
| HP:0005293 | Venous insufficiency | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301765[PMID]_29083708[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/903
- This record as JSON: /data/d/903.json