Von Willebrand disease type 2N
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Willebrand disease type 2N | |
| fr | Maladie de von Willebrand type 2N | |
| de | Von-Willebrand-Erkrankung Typ 2N | VWE Typ 2N · Von-Willebrand-Syndrom Typ 2N |
| es | Enfermedad de Von Willebrand tipo 2N | |
| it | Malattia di von Willebrand, tipo 2N | |
| nl | Ziekte van von Willebrand type 2N | |
| pt | Doença de Von Willebrand, tipo 2N | |
| pl | Choroba von Willebranda typu 2N | |
| cs | Von Willebrandova nemoc, typ 2N | |
| uk | Хвороба фон Віллебранда, тип 2N | |
| zh | 血管性血友病2N型 | |
| tr | Von Willebrand hastalığı tipi 2N |
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 | 0015631 | E | validated | |
| UMLS | C1282975 | 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/166093
- This record as JSON: /data/d/166093.json