Rare diseases · Sign or symptom
Pancytopenia
Low blood cell count
HP:0001876
What it means
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Rare diseases that can present with this42
Very common80–99%
6Common30–79%
10- Acute erythroid leukemia
- Acute promyelocytic leukemia
- Deafness-intellectual disability syndrome, Martin-Probst type
- Gaucher disease type 1
- Gaucher disease type 3
- Idiopathic aplastic anemia
- LIG4 syndrome
- Maternal uniparental disomy of chromosome 1 syndrome
- Transcobalamin II deficiency
- X-linked lymphoproliferative disease due to XIAP deficiency
Sometimes5–29%
19- Aggressive systemic mastocytosis
- Alpha-mannosidosis, infantile form
- Ataxia-pancytopenia syndrome
- Chédiak-Higashi syndrome
- Chronic graft versus host disease
- Gaucher disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Hepatic veno-occlusive disease-immunodeficiency syndrome
and 11 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Pancytopaenia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.