Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant idiopathic Fanconi syndrome

Autosomal dominant idiopathic Fanconi syndrome is caused by a HNF4A mutation R76W. Besides the beta cell related phenotype of MODY1, a renotubular Fanconi syndrome is present.

Systematic

Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3

References:

1.

Hamilton AJ et al. (2014) The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

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Update: April 29, 2019