ORPHA:166078
Von Willebrand disease type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Willebrand disease type 1 | |
| fr | Maladie de von Willebrand type 1 | |
| de | Von-Willebrand-Erkrankung Typ 1 | Von-Willebrand-Syndrom Typ 1 · VWE Typ 1 |
| es | Enfermedad de Von Willebrand tipo 1 | |
| it | Malattia di von Willebrand tipo 1 | Malattia di Willebrand, tipo 1 |
| nl | Ziekte van von Willebrand type 1 | |
| pt | Doença de Von Willebrand, tipo 1 | |
| pl | Choroba von Willebranda typu 1 | Choroba Willebranda typu 1 |
| cs | Von Willebrandova nemoc, typ 1 | Willebrandova nemoc |
| uk | Хвороба фон Віллебранда, тип 1 | |
| zh | 血管性血友病1型 | |
| tr | Von Willebrand hastalığı tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193400 | E | validated | |
| ICD-10 | D68.0 | NTBT | attributed | validated |
| ICD-11 | 3B12 | NTBT | index | validated |
| MONDO | 0008668 | E | validated | |
| MeSH | D056725 | E | validated | |
| UMLS | C1264039 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:903Von Willebrand disease
rare genetic diseases; rare hematological diseases
No children.
4
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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | 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.
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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/166078
- This record as JSON: /data/d/166078.json