Details of Disease

General Information of Disease (ID: DISB5VIB)

Disease Name Hemolytic anemia due to diphosphoglycerate mutase deficiency
Synonyms
DPGM deficiency; bisphosphoglyceromutase deficiency; bisphosphoglycerate mutase deficiency; diphosphoglycerate mutase deficiency of erythrocyte; BPGM deficiency; erythrocytosis, familial, 8; diphosphoglycerate phosphatase deficiency
Definition A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS0Y78V: Anemia due to erythrocyte enzyme disorder
DISO5FAY: Inborn error of metabolism
DISB5VIB: Hemolytic anemia due to diphosphoglycerate mutase deficiency
Disease Identifiers
MONDO ID
MONDO_0009113
UMLS CUI
C1291620
OMIM ID
222800
MedGen ID
489898
Orphanet ID
714
SNOMED CT ID
124678007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BPGM OTFX6527 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. Blood. 1992 Nov 15;80(10):2643-9.