Von Willebrand disease type 2M
- 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 decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any 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 2M | |
| fr | Maladie de von Willebrand type 2M | |
| de | Von-Willebrand-Erkrankung Typ 2M | Von-Willebrand-Syndrom Typ 2M · VWE Typ 2M |
| es | Enfermedad de Von Willebrand tipo 2M | |
| it | Malattia di von Willebrand, tipo 2M | |
| nl | Ziekte van von Willebrand type 2M | |
| pt | Doença de Von Willebrand, tipo 2M | |
| pl | Choroba von Willebranda typu 2M | |
| cs | Von Willebrandova nemoc, typ 2M | |
| uk | Хвороба фон Віллебранда, тип 2М | |
| zh | 血管性血友病2M型 | |
| tr | Von Willebrand hastalığı tipi 2M |
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 | 0015630 | E | validated | |
| UMLS | C1282974 | 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/166090
- This record as JSON: /data/d/166090.json