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 |