familial erythrocytosis 8

Summary
Synonym
  • BPGM deficiency
  • DPGM deficiency
  • ECYT8
  • bisphosphoglycerate mutase deficiency
  • bisphosphoglyceromutase deficiency
  • diphosphoglycerate mutase deficiency of erythrocyte
  • hemolytic anemia due to diphosphoglycerate mutase deficiency
Definition
A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
Super Class
primary polycythemia
External Links
Disease Ontology
DOID:0111630
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
669 BPGM bisphosphoglycerate mutase
Displaying 1 entry
Gene ID Gene Symbol Description Source
12183 Bpgm 2,3-bisphosphoglycerate mutase
Displaying 1 entry
Gene ID Gene Symbol Description Source
853705 GPM1 phosphoglycerate mutase GPM1
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0001900 Increased circulating hemoglobin concentration
HP:0001744 Splenomegaly
HP:0003581 Adult onset
HP:0000007 Autosomal recessive inheritance
HP:0001901 Polycythemia
HP:0001899 Increased hematocrit
Displaying 1 entry
Gene ID Gene Symbol Description
669 BPGM bisphosphoglycerate mutase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024