Von Willebrand disease type 2A
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. 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 2A | |
| fr | Maladie de von Willebrand type 2A | |
| de | Von-Willebrand-Erkrankung Typ 2A | Von-Willebrand-Syndrom Typ 2A · VWE Typ 2A |
| es | Enfermedad de Von Willebrand tipo 2A | |
| it | Malattia di von Willebrand, tipo 2A | |
| nl | Ziekte van von Willebrand type 2A | |
| pt | Doença de Von Willebrand, tipo 2A | |
| pl | Choroba von Willebranda typu 2A | |
| cs | Von Willebrandova nemoc, typ 2A | |
| uk | Хвороба фон Віллебранда, тип 2А | |
| zh | 血管性血友病1A型 | |
| tr | Von Willebrand hastalığı tip 2A |
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 | 0015628 | E | validated | |
| UMLS | C1282968 | 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/166084
- This record as JSON: /data/d/166084.json