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
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
Search interest in BPGM
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 United States.
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 Spain.
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 Spain.
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 United States.
BPGM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BPGM gene.
More info about this panel United States.
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 Spain.
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