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glycogen storage disease due to GLUT2 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.
Uniprot Description Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.
Mondo Term and Equivalent IDs
MONDO:0009216:  glycogen storage disease due to GLUT2 deficiency
GARD:0002268: 
Orphanet:2088: 
SCTID:61598006: