BPGM gene related symptoms and diseases

All the information presented here about the BPGM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BPGM gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BPGM gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cholelithiasis
  • Polycythemia
  • Cholecystitis
  • Normocytic anemia
  • Nonspherocytic hemolytic anemia
  • Normochromic anemia
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Rare diseases associated to BPGM gene

Here you will find a list of rare diseases related to the BPGM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY


Alternate names

HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY Is also known as diphosphoglycerate mutase deficiency of erythrocyte, dpgm deficiency, bisphosphoglyceromutase deficiency, bpgm deficiency

Description

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

Most common symptoms of HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY

  • Anemia
  • Splenomegaly
  • Abnormality of metabolism/homeostasis
  • Jaundice
  • Hemolytic anemia


More info about HEMOLYTIC ANEMIA DUE TO DIPHOSPHOGLYCERATE MUTASE DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for BPGM gene

Erythrocytosis Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Erythrocytosis Panel by next-generation sequencing (NGS) that also includes the following genes: BPGM EGLN1 VHL EPAS1 EPOR HBA1 HBA2 HBB JAK2

More info about this panel

NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia that also includes the following genes: BPGM EGLN1 VHL SH2B3 EPAS1 EPOR JAK2

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the BPGM gene.

More info about this panel

BPGM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BPGM gene.

More info about this panel

Erythrocytosis due to Bisphosphoglycerate Mutase Deficiency , Sequencing BPGM Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BPGM gene.

More info about this panel


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