Table 4: Proximal tubule genetic disorders.

Gene Protein Inheritance Onset Comments
SLC5A2 SGLT2 AD Birth Benign glucosuria
SLC3A1 rBAT AR Infancy to adulthood Cystinuria, dibasic aminoaciduria, renal stones
SLC7A9 B0,+AT1 AR Infancy to adulthood Cystinuria, dibasic aminoaciduria, renal stones
SLC34A3 Na-PO4 transporter AR Infancy Hereditary hypophosphatemic rickets
CAII Carbonic anhydrase II AR Infancy FTT, proximal and distal RTA, osteopetrosis
SLC4A4 NBC1 AR Infancy FTT, proximal RTA, developmental delay, eye disease
CTNS Cystinosin AR Infancy Cystinosis -Fanconi syndrome, FTT, hypothyroidism, eye disease, ESRD
CLCN5 CLC-5 chloride channel AR Infancy Dent disease - kidney stones, nephrocalcinosis, Fanconi syndrome, ESRD
OCRL INPP5F X-Linked Infancy Dent disease
OCRL INPP5F X-Linked Infancy Lowe syndrome - developmental delay, ocular disease, Fanconi syndrome, ESRD
SLC22A12 URAT1 AR Infancy Hereditary hypouricemia