Phenotypes associated with the disease hemolytic anemia due to diphosphoglycerate mutase deficiency (OMIM:222800):
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:15054810)
- Increased circulating hemoglobin concentration (HP:0001900): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:15054810)
- Reduced erythrocyte bisphosphoglycerate mutase activity (HP:6000557): Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:25015942)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:2542247)
- Increased hematocrit (HP:0001899): An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: PCS. Frequency: 1/1. (PMID:15054810)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: PCS. Frequency: 2/2. (PMID:15054810;PMID:2542247)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 0/1. (PMID:15054810)