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