ORPHA:729
Polycythemia vera
Synonyms: Acquired primary erythrocytosis · Osler-Vaquez disease · PV · Polycythemia rubra vera · Vaquez disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare acquired myeloproliferative neoplasm characterized by an elevated absolute red blood cell mass (RBCM) caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polycythemia vera | Acquired primary erythrocytosis · Osler-Vaquez disease · PV · Polycythemia rubra vera · Vaquez disease |
| fr | Polyglobulie de Vaquez | Erythrocytose primitive acquise · Maladie d'Osler-Vaquez · Maladie de Vaquez · Polyglobulie essentielle · Polycythémie vraie · Polycythémie rubra vera |
| de | Polycythaemia vera | Erythrozytose, erworbene primäre · PV · Polycythaemia rubra vera · Polyzythämie, echte · Vaquez-Krankheit · Vaquez-Osler-Krankheit |
| es | Policitemia vera | Enfermedad de Osler-Vaquez · Enfermedad de Vaquez · Eritrocitosis primaria adquirida · PV · Policitemia rubra vera |
| it | Policitemia vera | Eritrocitosi primitiva acquisita · Malattia di Osler-Vaquez · Malattia di Vaquez · PV · Policitemia rubra vera |
| nl | Polycythemia vera | PV · Polycythaemia vera · Polycythemia rubra vera · Verworven primaire erytrocytose · Ziekte van Osler-Vaquez · Ziekte van Vaquez |
| pt | Policitemia vera | |
| pl | Czerwienica prawdziwa | Choroba Oslera i Vaqueza · Choroba Vaqueza · Erythremia · Nabyta erytrocytoza pierwotna · Polycythemia rubra vera · PV |
| cs | Polycythaemia vera | Získaná primární erytrocytóza · Oslerova-Vaquezova nemoc · PV · Polycythemia rubra vera · Vaquezova choroba · Osler-Vaquezova nemoc |
| uk | Поліцитемія стправжня | Набутий первинний еритроцитоз · Хвороба Ослера-Вакеса · Поліцитемія червоного кольору · PV · Хвороба Вакеза |
| zh | 真性红细胞增多症 | 获得性原发性红细胞增多症 |
| tr | Polisitemia vera | PV · Vaquez hastalığı · Osler-Vaquez hastalığı · Polisitemi rubra vera · Edinsel primer eritrositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263300 | E | validated | |
| ICD-10 | D45 | E | specific | validated |
| ICD-11 | 2A20.4 | E | specific | validated |
| MONDO | 0009891 | E | validated | |
| MONDO | 9891 | E | validated | |
| MeSH | D011087 | E | validated | |
| UMLS | C0032463 | E | validated | |
| GARD | 7422 | E | validated | |
| MedDRA | 10036057 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98427Erythrocytosis
rare hematological diseases - ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAK2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:6192 | ENSG00000096968 | 147796 | 9p24.1 | Janus kinase 2 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Europe | Value and class | Validated | [EXPERT]_European Medicines Agency 2014[OTHER] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Italy | Value and class | Validated | 13679323[PMID] |
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
35 annotations · validated 2023-08-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002488 | Acute leukemia | |
| HP:0001681 | Angina pectoris | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0000225 | Gingival bleeding | |
| HP:0002315 | Headache | |
| HP:0002240 | Hepatomegaly | |
| HP:0000822 | Hypertension | |
| HP:0002863 | Myelodysplasia | |
| HP:0011974 | Myelofibrosis | |
| HP:0001901 | Polycythemia | |
| HP:0001744 | Splenomegaly | |
| HP:0000360 | Tinnitus | |
| HP:0002321 | Vertigo | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:0002829 | Arthralgia | |
| HP:0012378 | Fatigue | |
| HP:0003401 | Paresthesia | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0004420 | Arterial thrombosis | |
| HP:0002639 | Budd-Chiari syndrome | |
| HP:0033842 | Early satiety | |
| HP:0032147 | Erythromelalgia | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0004417 | Intermittent claudication | |
| HP:0001409 | Portal hypertension | |
| HP:0030242 | Portal vein thrombosis | |
| HP:0000989 | Pruritus | |
| HP:0002204 | Pulmonary embolism | |
| HP:0001297 | Stroke | |
| HP:0001894 | Thrombocytosis | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23827419[PMID]_31151982[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/729
- This record as JSON: /data/d/729.json