aplastic anemia
Findings
No curated finding names aplastic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.
Definition from the Mondo Disease Ontology (MONDO:0015909), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Aplastic anemiaHPOHP:0001915
- Obligate (100% of cases)
- Bone marrow hypocellularityHPOHP:0005528
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.
- PRF1HGNC:9360
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of