hemolytic anemia due to diphosphoglycerate mutase deficiency
Findings
No curated finding names hemolytic anemia due to diphosphoglycerate mutase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Definition from the Mondo Disease Ontology (MONDO:0009113), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult 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.
- Increased circulating hemoglobin concentrationHPOHP:0001900
- 1 of 1 reported patient
- Increased hematocritHPOHP:0001899
- 1 of 1 reported patient
- PolycythemiaHPOHP:0001901
- 2 of 2 reported patients
- Reduced erythrocyte bisphosphoglycerate mutase activityHPOHP:6000557
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 0 of 1 reported patient
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.
- BPGMHGNC:1093
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: hemolytic anemia due to diphosphoglycerate mutase deficiency
- Also called
- diphosphoglycerate phosphatase deficiencyerythrocytosis, familial, 8