ORPHA:166081
Von Willebrand disease type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Willebrand disease type 2 | |
| fr | Maladie de von Willebrand type 2 | |
| de | Von-Willebrand-Erkrankung Typ 2 | Von-Willebrand-Syndrom Typ 2 · VWE Typ 2 |
| es | Enfermedad de Von Willebrand tipo 2 | |
| it | Malattia di von Willebrand, tipo 2 | Malattia di Willebrand, tipo 2 |
| nl | Ziekte van von Willebrand type 2 | |
| pt | Doença de von Willebrand, tipo 2 | |
| pl | Choroba von Willebranda typu 2 | Choroba Willebranda typu 2 |
| cs | Von Willebrandova nemoc, typ 2 | |
| uk | Хвороба фон Віллебранда, тип 2 | |
| zh | 血管性血友病2型 | |
| tr | Von Willebrand hastalığı tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613554 | E | validated | |
| ICD-10 | D68.0 | NTBT | attributed | validated |
| ICD-11 | 3B12 | NTBT | index | validated |
| MONDO | 0013304 | E | validated | |
| MeSH | D056728 | E | validated | |
| UMLS | C1264040 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:903Von Willebrand disease
rare genetic diseases; rare hematological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 30306084[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166081
- This record as JSON: /data/d/166081.json