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.
|Fanconi renotubular syndrome|
|Autosomal dominant idiopathic Fanconi syndrome|
|Fanconi renotubular syndrome 1|
|Fanconi renotubular syndrome 2|
|Fanconi renotubular syndrome 3|
Hamilton AJ et al. (2014) The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.