glycogen storage disease due to GLUT2 deficiency
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.
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
excluded_subClassOf
MONDO:0019226
glucose transport disorder
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
Bickel-Fanconi glycogenosis
exact
FBS
exact
Fanconi Bickel syndrome
exact
Fanconi syndrome with intestinal malabsorption and galactose intolerance
exact
Fanconi-Bickel disease
exact
Fanconi-Bickel syndrome
exact
GLUT2 deficiency
related
GSD due to GLUT2 deficiency
exact
GSD type 11
related
GSD type XI
related
glycogen storage disease 11
related
glycogen storage disease XI
related
glycogen storage disease due to GLUT2 deficiency
exact
glycogen storage disease type 11
related
glycogen storage disease type XI
related
glycogenosis Fanconi EXACT
related
glycogenosis due to GLUT2 deficiency
exact
hepatic glycogenosis with amino aciduria and glucosuria
related
hepatorenal glycogenosis with renal Fanconi syndrome
related
hepatorenal glycogenosis with renal fanconi syndrome
related
pseudo-phlorizin diabetes
related