glycogen storage disease due to phosphoglycerate mutase deficiency
A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
MONDO:0016118
obsolete muscular glycogenosis (obsolete MONDO:0016118)
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0017688
disorder of glycolysis
is_a
GSD due to phosphoglycerate mutase deficiency
exact
GSD type 10
exact
GSD10
related
GSDX
related
PGAM deficiency
related
PGAM2 glycogen storage disease
exact
Phosphoglycerate mutase deficiency
related
glycogen storage disease X
related
glycogen storage disease caused by mutation in PGAM2
exact
glycogen storage disease type 10
exact
glycogenosis due to phosphoglycerate mutase deficiency
exact
muscle phosphoglycerate mutase deficiency
exact
myopathy due to phosphoglycerate mutase deficiency
exact
SPAC26F1.06