Fanconi syndrome type 3 is an autosomal dominant disorder caused by mutations of the EHHADH gene. As all proximal tubular disorders it is characterized by aminoaciduria, glucosuria, and hyperphosphaturia.
|Fanconi renotubular syndrome|
|Autosomal dominant idiopathic Fanconi syndrome|
|Fanconi renotubular syndrome 1|
|Fanconi renotubular syndrome 2|
|Fanconi renotubular syndrome 3|
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.