Details of Disease

General Information of Disease (ID: DISXRSZ1)

• Disease Name: Glycogen storage disease due to GLUT2 deficiency
• Synonyms: hepatorenal glycogenosis with renal Fanconi syndrome; glycogenosis Fanconi EXACT; glycogen storage disease XI; GSD type XI; glycogen storage disease 11; pseudo-phlorizin diabetes; glycogenosis, Fanconi type; GLUT2 deficiency; hepatic glycogenosis with amino aciduria and glucosuria; glycogen storage disease type 11; glycogen storage disease type XI; hepatic glycogenosis with Fanconi nephropathy; GSD type 11; hepatorenal glycogenosis with renal fanconi syndrome; FBS; GSD due to GLUT2 deficiency; Bickel-Fanconi glycogenosis; Fanconi syndrome with intestinal malabsorption and galactose intolerance; Fanconi-Bickel syndrome; Fanconi Bickel syndrome; glycogenosis due to GLUT2 deficiency; glycogen storage disease due to GLUT2 deficiency; Fanconi-Bickel disease
• Definition: 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.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISXRSZ1: Glycogen storage disease due to GLUT2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009216
  MESH ID: D005198
  UMLS CUI: C3495427
  OMIM ID: 227810
  MedGen ID: 501176
  Orphanet ID: 2088

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGPAT2	TT9AYVR	Limited	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A2	DTUJPOL	Definitive	Autosomal recessive	[2]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTD	OTJYTQ69	Strong	Altered Expression	[3]
FBRS	OTUVH446	Strong	Biomarker	[4]
FBXO8	OTZNGJGW	Strong	Biomarker	[4]
GPX3	OT6PK94R	Strong	Biomarker	[5]
SLC2A2	OTBL2W7R	Definitive	Autosomal recessive	[2]

References

• [1] Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.Clin Genet. 2013 May;83(5):439-45. doi: 10.1111/j.1399-0004.2012.01939.x. Epub 2012 Aug 20.
• [2] Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324.
• [3] Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.J Inherit Metab Dis. 2007 Nov;30(6):896-902. doi: 10.1007/s10545-007-0734-4. Epub 2007 Nov 12.
• [4] First bite syndrome - An 11-year experience.Auris Nasus Larynx. 2017 Jun;44(3):302-305. doi: 10.1016/j.anl.2016.07.012. Epub 2016 Aug 12.
• [5] Plasma glutathione peroxidase and its relationship to renal proximal tubule function. Mol Genet Metab. 1998 Nov;65(3):238-45. doi: 10.1006/mgme.1998.2760.