A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
thiopurine metabolic disease
MONDO:0000210
hypercalcemia, infantile
MONDO:0000212
hypermanganesemia with dystonia
MONDO:0000214
abdominal obesity-metabolic syndrome
MONDO:0000816
plasma protein metabolism disease
MONDO:0002273
inherited lipid metabolism disorder
MONDO:0002525