idiopathic aplastic anemia
MONDO:0012197Mondo
Findings
No curated finding names idiopathic aplastic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aplastic anemia without a known cause.
Definition from the Mondo Disease Ontology (MONDO:0012197), read 2026-09-29. CC BY 4.0.
Features
11 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
- Obligate (100% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- Very frequent (80% to 99% of cases)
- PancytopeniaHPOHP:0001876
- Frequent (30% to 79% of cases)
- ReticulocytopeniaHPOHP:0001896
- Frequent (30% to 79% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Occasional (5% to 29% of cases)
- EcchymosisHPOHP:0031364
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- Recurrent infectionsHPOHP:0002719
- Occasional (5% to 29% of cases)
- Retinal hemorrhageHPOHP:0000573
- Occasional (5% to 29% of cases)
- ThrombocytopeniaHPOHP:0001873
- Occasional (5% to 29% of cases)
Reported absent (1)
- Autoimmune antibody positivityHPOHP:0030057
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.
- NBNHGNC:7652
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: idiopathic aplastic anemia
- Also called
- idiopathic aplastic aplasiaidiopathic bone marrow failure