ORPHA:824
Primary myelofibrosis
Synonyms: Agnogenic myeloid metaplasia · Idiopathic myelofibrosis · Myelofibrosis with myeloid metaplasia · Osteomyelofibrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary myelofibrosis | Agnogenic myeloid metaplasia · Idiopathic myelofibrosis · Myelofibrosis with myeloid metaplasia · Osteomyelofibrosis |
| fr | Myélofibrose primaire | Myélofibrose idiopathique · Myélofibrose primitive · Myélosclérose avec métaplasie myéloïde · Osteomyélofibrose |
| de | Primäre Myelofibrose | Agnogenische myeloide Metaplasie · Myelofibrose mit myeloischer Metaplasie · Myelofibrose, idiopathische · Osteomyelofibrose · PMF |
| es | Mielofibrosis primaria | Metaplasia mieloide agnogénica · Mielofibrosis con metaplasia mieloide · Mielofibrosis idiopática · Osteomielofibrosis |
| it | Mielofibrosi primitiva | Mielosclerosi con metaplasia mieloide · Metaplasia mieloide agnogenica · Mielofibrosi con metaplasia mieloide · Mielofibrosi idiopatica |
| nl | Primaire myelofibrose | Agnogene myeloïde metaplasie · Idiopathische myelofibrose · Myelofibrose met myeloïde metaplasie · Myelosclerose met myeloïde metaplasie · Osteomyelofibrose |
| pt | Mielofibrose com metaplasia mielóide | Mielofibrose idiopática |
| pl | Mielofibroza z metaplazją szpiku | Agnogenic myeloid metaplasia · Mielofibroza idiopatyczna · Mielofibroza pierwotna · Mieloskleroza z metaplazją szpiku |
| cs | Myelofibróza s myeloidní metaplázií | Agnogenní myeloidní metaplázie · Idiopatická myelofibróza · Myeloskleróza s myeloidní metaplázií · Primární myelofibróza |
| uk | Первинний мієлофіброз | Агногенна мієлоїдна метаплазія · Ідіопатичний мієлофіброз · Мієлофіброз з мієлоїдною метаплазією · Остеомієлофіброз |
| zh | 原发性骨髓纤维化 | 骨髓纤维化伴髓样化生 |
| tr | Primer miyelofibroz | Osteomiyelofibroz · İdiyopatik miyelofibroz · Agnojenik miyeloid metaplazi · Miyeloid metaplazili miyelofibroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254450 | E | validated | |
| ICD-10 | D47.4 | NTBT | inclusion | validated |
| ICD-11 | 2A20.2 | E | specific | validated |
| MONDO | 0009692 | E | validated | |
| MeSH | D055728 | E | validated | |
| UMLS | C0001815 | E | validated | |
| GARD | 8618 | E | validated | |
| MedDRA | 10077161 | 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:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:164823Rare acquired aplastic anemia
rare hematological diseases; rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CALR | Disease-causing somatic mutation(s) in | Assessed | HGNC:1455 | ENSG00000179218 | 109091 | 19p13.13 | calreticulin | 24325256[PMID]_24325359[PMID] |
| JAK2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:6192 | ENSG00000096968 | 147796 | 9p24.1 | Janus kinase 2 | |
| MPL | Disease-causing somatic mutation(s) in | Assessed | HGNC:7217 | ENSG00000117400 | 159530 | 1p34.2 | MPL proto-oncogene, thrombopoietin receptor | 16834459[PMID]_16868251[PMID] |
| TET2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19557078[PMID]_19262601[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
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
36 annotations · validated 2019-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| Frequent (79-30%) | ||
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0001903 | Anemia | |
| HP:0025142 | Constitutional symptom | |
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000980 | Pallor | |
| HP:0001744 | Splenomegaly | Diagnostic criterion |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001977 | Abnormal thrombosis | |
| HP:0002039 | Anorexia | |
| HP:0004420 | Arterial thrombosis | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0003388 | Easy fatigability | |
| HP:0031364 | Ecchymosis | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001945 | Fever | |
| HP:0030157 | Flank pain | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0011134 | Low-grade fever | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001876 | Pancytopenia | |
| HP:0000967 | Petechiae | |
| HP:0004447 | Poikilocytosis | |
| HP:0001409 | Portal hypertension | |
| HP:0000979 | Purpura | |
| HP:0001894 | Thrombocytosis | |
| HP:0004936 | Venous thrombosis | |
| Very rare (<4-1%) | ||
| HP:0004326 | Cachexia | |
| HP:0001028 | Hemangioma | |
| HP:0004377 | Hematological neoplasm | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30683837[PMID]_30805227[PMID]_27830539[PMID]_27870387[PMID]_9766805[PMID]_7436463[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/824
- This record as JSON: /data/d/824.json