Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hemolytic anemia due to diphosphoglycerate mutase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemolytic anemia due to diphosphoglycerate mutase deficiency

MONDO:0009113

Also known as:diphosphoglycerate phosphatase deficiencyerythrocytosis, familial, 8BPGM deficiency

Overview

A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.

GeneticsAutosomal recessive · BPGM (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating hemoglobin concentration, Reduced erythrocyte bisphosphoglycerate mutase activity, Increased hematocrit, and Polycythemia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Increased circulating hemoglobin concentration, Enlarged spleen (splenomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BPGM encodes bisphosphoglycerate mutase (259 aa). Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity Highest expression in Nerve Tibial (31.6 TPM) and Whole Blood (31.0 TPM).

Hemolytic anemia due to diphosphoglycerate mutase deficiency is associated with mutations in the BPGM gene on chromosome 7.

BPGM is classified as a druggable target (Enzyme category) with score 7.5.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for BPGM is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hemolytic anemia due to diphosphoglycerate mutase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hemolytic anemia due to diphosphoglycerate mutase deficiency.

16 publications have been identified in PubMed for hemolytic anemia due to diphosphoglycerate mutase deficiency. Research spans Case Report / Case Series (19%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	3	19%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:222800

Orphanet

European rare disease database

Orphanet:714

GARD

Genetic and Rare Diseases Info Center

GARD:1874

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

hemolytic anemia due to diphosphoglycerate mutase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hemolytic anemia due to diphosphoglycerate mutase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications