Pseudo-von Willebrand disease
Synonyms: PT-VWD · Platelet type-von Willebrand disease · Pseudo-von Willebrand disease type 2B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudo-von Willebrand disease | PT-VWD · Platelet type-von Willebrand disease · Pseudo-von Willebrand disease type 2B |
| fr | Maladie de von Willebrand type plaquette | PT-VWD · Pseudo-maladie de von Willebrand · Pseudo-maladie de von Willebrand type 2B |
| de | Pseudo-von-Willebrand-Syndrom | Plättchentyp des Von-Willebrand-Syndroms · Pseudo-von-Willebrand-Syndrom Typ 2B · PT-vWS · VWDP |
| es | Enfermedad de pseudo-Von Willebrand | Enfermedad de Von Willebrand tipo plaquetario · Enfermedad de pseudo-Von Willebrand tipo 2B · PT-VWD |
| it | Malattia di von Willebrand, tipo piastrinico | Malattia pseudo-von Willebrand · Malattia pseudo-von Willebrand, tipo 2B · PT-VWD |
| nl | Pseudoziekte van von Willebrand | PT-VWD · Pseudoziekte van von Willebrand type 2B · Ziekte van von Willebrand, bloedplaatjes-type |
| pt | Doença pseudo-Von Willebrand | |
| pl | Choroba pseudo-Von Willebranda | PT-VWD · Choroba pseudo-Von Willebranda typu 2B |
| cs | Pseudo-Von Willebrandova nemoc | PT-VWD · Pseudo-Von Willebrandova nemoc, typ 2B |
| uk | Псевдо-хвороба Віллебранда | Хвороба тромбоцитів типу Віллебранда · Псевдо-хвороба Віллебранда, тип 2B · PT-VWD |
| zh | 血管性假血友病 | 2B型假血管性血友病 |
| tr | Psödo-von Willebrand hastalığı | PT-VWD · Trombosit tipi von Willebrand hastalığı · Pseudo-von Willebrand hastalığı tipi 2B |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177820 | E | validated | |
| ICD-10 | D69.8 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0008332 | E | validated | |
| MeSH | C536458 | E | validated | |
| UMLS | C1280798 | E | validated | |
| GARD | 8312 | 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:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GP1BA | Disease-causing germline mutation(s) in | Assessed | HGNC:4439 | ENSG00000185245 | 606672 | 17p13.2 | glycoprotein Ib platelet subunit alpha | 2052556[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 23327637[PMID]_21301777[PMID]_23934752[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/52530
- This record as JSON: /data/d/52530.json