Table 2.
Inherited Fanconi Syndromes | Gene | Mapping |
---|---|---|
Autosomal recessive | SLC4A4 | Chromosome 4q21 |
Dent´s syndrome | CLCN5 | Chromosome Xp11.22 |
Cystinosis |
SLC3A1 SLC7A9 |
Chromosome 2p21 Chromosome 19p13.1 |
Tyrosinaemia type 1 | FAH gene | Chromosome 15q23-q25 |
Galactosemia | GALT gene | Chromosome 9p13 |
Wilson´s disease | ATP7B gene | Chromosome 13q14.3-q21.1 |