U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Deficiency of bisphosphoglycerate mutase(ECYT8)

MedGen UID:
489898
•Concept ID:
C1291620
•
Disease or Syndrome
Synonyms: BPGM DEFICIENCY; DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE; DPGM DEFICIENCY; Hemolytic anemia due to diphosphoglycerate mutase deficiency
SNOMED CT: Deficiency of glycerate phosphomutase (124678007); Deficiency of diphosphoglycerate mutase (124678007); Deficiency of bisphosphoglycerate synthase (124678007); Deficiency of bisphosphoglycerate mutase (124678007)
 
Gene (location): BPGM (7q33)
 
Monarch Initiative: MONDO:0009113
OMIM®: 222800
Orphanet: ORPHA714

Definition

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

Clinical features

From HPO
Polycythemia
MedGen UID:
18552
•Concept ID:
C0032461
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
Increased hematocrit
MedGen UID:
68692
•Concept ID:
C0239935
•
Finding
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
See: Feature record | Search on this feature
Increased circulating hemoglobin concentration
MedGen UID:
108199
•Concept ID:
C0549448
•
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Reduced erythrocyte bisphosphoglycerate mutase activity
MedGen UID:
1053114
•Concept ID:
CN377389
•
Finding
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.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of bisphosphoglycerate mutase

Recent clinical studies

Etiology

Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
Chen C, Xie T, Zhang Y, Wang Y, Yu F, Lin L, Zhang W, Brown BC, Zhang X, Kellems RE, D'Alessandro A, Xia Y
J Am Soc Nephrol 2023 Oct 1;34(10):1647-1671. Epub 2023 Aug 7 doi: 10.1681/ASN.0000000000000195. PMID: 37725437Free PMC Article
Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Diagnosis

Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
Chen C, Xie T, Zhang Y, Wang Y, Yu F, Lin L, Zhang W, Brown BC, Zhang X, Kellems RE, D'Alessandro A, Xia Y
J Am Soc Nephrol 2023 Oct 1;34(10):1647-1671. Epub 2023 Aug 7 doi: 10.1681/ASN.0000000000000195. PMID: 37725437Free PMC Article
Congenital and inherited polycythemia.
Kralovics R, Prchal JT
Curr Opin Pediatr 2000 Feb;12(1):29-34. doi: 10.1097/00008480-200002000-00006. PMID: 10676771
Fitting abnormal oxygen equilibrium curves of hemoglobin.
Marden MC, Kister J, Poyart C
Biophys Chem 1990 Aug 31;37(1-3):363-9. doi: 10.1016/0301-4622(90)88035-q. PMID: 2149519
Study of a kindred with partial deficiency of red cell 2,3-diphosphoglycerate mutase (2,3-DPGM) and compensated hemolysis.
Travis SF, Martinez J, Garvin J Jr, Atwater J, Gillmer P
Blood 1978 Jun;51(6):1107-16. PMID: 148301

Prognosis

Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Clinical prediction guides

Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716
The use of enzymopathic human red cells in the study of malarial parasite glucose metabolism.
Roth E Jr, Joulin V, Miwa S, Yoshida A, Akatsuka J, Cohen-Solal M, Rosa R
Blood 1988 May;71(5):1408-13. PMID: 2833958

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...