Hemolytic anemia due to diphosphoglycerate mutase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DPGM DEFICIENCY
DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE
BISPHOSPHOGLYCEROMUTASE DEFICIENCY
BPGM DEFICIENCY
Number of Symptoms 11
OrphanetNr: 714
OMIM Id: 222800
ICD-10: D55.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hemolytic anemia due to a disorder of glycolytic enzymes
 -Rare genetic disease
 -Rare hematologic disease
Other metabolic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001082) Cholecystitis 9 / 7739
2
 (HPO:0001081) Cholelithiasis 36 / 7739
3
 (HPO:0001744) Splenomegaly 337 / 7739
4
 (HPO:0000952) Jaundice 105 / 7739
5
 (HPO:0001897) Normocytic anemia 7 / 7739
6
 (HPO:0001895) Normochromic anemia 7 / 7739
7
 (HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
8
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
9
 (OMIM) Diphosphoglycerate mutase deficiency 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Normal osmotic fragility 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schroter (1965) described severe hemolytic anemia in an infant. Although the proband's blood could not be studied because of multiple transfusions, the erythrocytes of the consanguineous parents, the sister and the father's mother showed activity of 2,3-diphosphoglycerate mutase ...
Molecular genetics OMIM In a patient with complete deficiency of erythrocyte BPGM reported by Rosa et al. (1978), Rosa et al. (1989) identified a heterozygous missense mutation in the BPGM gene (613896.0001). Lemarchandel et al. (1992) studied further the family originally ...