Von Willebrand disease type 2B
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Willebrand disease type 2B | |
| fr | Maladie de von Willebrand type 2B | |
| de | Von-Willebrand-Erkrankung Typ 2B | Von-Willebrand-Syndrom Typ 2B · VWE Typ 2B |
| es | Enfermedad de Von Willebrand tipo 2B | |
| it | Malattia di von Willebrand, tipo 2B | |
| nl | Ziekte van von Willebrand type 2B | |
| pt | Doença de Von Willebrand, tipo 2B | |
| pl | Choroba von Willebranda typu 2B | |
| cs | Von Willebrandova nemoc, typ 2b | |
| uk | Хвороба фон Віллебранда, тип 2B | |
| zh | 血管性血友病2B型 | |
| tr | Von Willebrand hastalığı tipi 2B |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613554 | NTBT | validated | |
| ICD-10 | D68.0 | NTBT | attributed | validated |
| ICD-11 | 3B12 | NTBT | index | validated |
| MONDO | 0015629 | E | validated | |
| UMLS | C1282971 | 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:166081Von Willebrand disease type 2
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VWF | 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 | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166087
- This record as JSON: /data/d/166087.json