Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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): Gene(s) directly associated with this condition or phenotype.	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 all Hide all

Abnormality of blood and blood-forming tissues
Abnormality of metabolism/homeostasis
- Reduced erythrocyte bisphosphoglycerate mutase activity
Abnormality of the immune system
- Splenomegaly

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeficiency of bisphosphoglycerate mutase

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Anemia due to enzyme disorder
        Anemia due to erythrocyte enzyme disorder
        Deficiency 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: 37725437 Free 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

See all (2)

Diagnosis

Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.

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

See all (4)

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

See all (1)

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

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

Deficiency of bisphosphoglycerate mutase(ECYT8)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity