primary myelofibrosis
Findings
No curated finding names primary myelofibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
Definition from the Mondo Disease Ontology (MONDO:0009692), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Extramedullary hematopoiesisHPOHP:0001978
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- MyelofibrosisHPOHP:0011974
- 2 of 2 reported patients
- PallorHPOHP:0000980
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Where it sits
Other names
10 names
Resolves to: primary myelofibrosis
- Also called
- Agnogenic myeloid metaplasiaAMMchronic idiopathic myelofibrosisCIMFidiopathic bone marrow fibrosisidiopathic myelofibrosismyelofibrosis with myeloid metaplasia, somaticmyelofibrosis, somaticmyelosclerosis with myeloid metaplasiaosteomyelofibrosis