Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fanconi renotubular syndrome 3

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.

Systematic

Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
EHHADH

References:

1.

Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

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2.

Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

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Update: Sept. 26, 2018