thrombocytopenia, anemia, and myelofibrosis
Findings
No curated finding names thrombocytopenia, anemia, and myelofibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited thrombocytopenia caused by a variation in the MPIG6B gene, which impairs the inhibitory signaling of the G6b-B receptor on megakaryocytes and platelets, characterized by thrombocytopenia, variable anemia, and progressive bone-marrow fibrosis, often with splenomegaly and abnormal platelet activation and megakaryocyte maturation.
Definition from the Mondo Disease Ontology (MONDO:0044316), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- AnemiaHPOHP:0001903
- 4 of 4 reported patients
- AnisopoikilocytosisHPOHP:0004823
- 4 of 4 reported patients
- MyelofibrosisHPOHP:0011974
- 4 of 4 reported patients
- ThrombocytopeniaHPOHP:0001873
- 4 of 4 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPIG6BHGNC:13937
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: thrombocytopenia, anemia, and myelofibrosis
- Also called
- MPIG6B-related thrombocytopenia, anemia, and myelofibrosisTHAMY