Deficiency of bisphosphoglycerate mutase
- Synonyms
- BPGM DEFICIENCY; DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE; DPGM DEFICIENCY; Hemolytic anemia due to diphosphoglycerate mutase deficiency
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (13 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Increased circulating hemoglobin concentration
Increased circulating hemoglobin concentration
- MedGen UID: 108199
- Concept ID: C0549448
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Increased hematocrit
Increased hematocrit
- MedGen UID: 68692
- Concept ID: C0239935
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Polycythemia
Polycythemia
- MedGen UID: 18552
- Concept ID: C0032461
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Increased circulating hemoglobin concentration
- Abnormality of metabolism/homeostasis
- Reduced erythrocyte bisphosphoglycerate mutase activity
Reduced erythrocyte bisphosphoglycerate mutase activity
- MedGen UID: 1053114
- Concept ID: CN377389
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced erythrocyte bisphosphoglycerate mutase activity
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
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