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GENATLAS PHENOTYPE
last update : 28-05-2014
Symbol FBIS
Location 3q26.2
Name Fanconi-Bickel syndrome
Other name(s)
  • hepatic glycogenosis with amino aciduria and glucosuria
  • Fanconi syndrome with intestinal malabsorption and galactose intolerance
  • pseudo-phlorizin diabetes
  • glycogen storage disease 11
    • Corresponding gene SLC2A2
    Other symbol(s) GLUT2, SLC2A2, FBS
    Main clinical features
  • hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis
  • hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose
  • tubular nephropathy characterized by excessive glucosuria and moderate hyperphosphaturia in the presence of constant hypophosphatemia, hyperuricemia, hyperaminoaciduria, and intermittent albuminuria
  • liver biopsy revealed excessive amounts of glycogen with steatosis
    • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    digestive tract/liver and annex
    Type disease
    Gene product
    Name solute carrier family 2, member 2 (SLC2A2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function potentially involved in syndrome with increased insulin secretion as observed in congenital hyperinsulinism
    various types   abnormal protein/loss of function responsible for the Fanconi-Bickel syndrome
    Remark(s)
  • mutations invalidated glucose transport by SLC2A2 either through absence of protein at the plasma membrane (G20D and S242R) or through loss of transport capacity despite membrane targeting (P417L and W444R), pointing out crucial AAs for SLC2A2 transport function (PMID: 24019518))