Endocrinology · Endocrinology / Metabolic disorders
Fanconi–Bickel syndrome
also: Glycogen storage disease type XI
Renal tubulopathy with hepatorenal glycogen accumulation and rickets.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Metabolic disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- SLC2A2
- Alternative names & eponyms
- Glycogen storage disease type XI
Etiology & mechanism
GLUT2 deficiency.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Fanconi–Bickel syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Bartter syndrome
failure to thrive, polyuria
2 shared
Fanconi syndrome
polyuria, rickets
2 shared
Imerslund–Gräsbeck syndrome
failure to thrive, proteinuria
1 shared
Action myoclonus–renal failure syndrome
proteinuria
1 shared
Alport syndrome
proteinuria
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Budd–Chiari syndrome
hepatomegaly
1 shared
Caroli syndrome
hepatomegaly
1 shared
Chanarin–Dorfman syndrome
hepatomegaly
1 shared
Cobalamin C syndrome
failure to thrive
Shares genes with
None.
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