Disorders Involving the Proximal Tubule |
Proximal renal tubular acidosis | Sodium bicarbonate cotransporter (SLC4A4, 4q21) | 604278 |
Fanconi-Bickel syndrome | Glucose transporter, GLUT2 (SLC2A2, 3q26.2) | 227810 |
Isolated renal glycosuria | Sodium glucose cotransporter (SLC5A2, 16p11.2) | 233100 |
Cystinuria | | |
Type I | Cystine, dibasic and neutral amino acid transporter (SLC3A1, 2p16.3) | 220100 |
Non-type I | Amino acid transporter, light subunit (SLC7A9, 19q13.1) | 600918 |
Lysinuric protein intolerance | Amino acid transporter (SLC7A7, 4q11.2) | 222700 |
Hartnup disorder | Neutral amino acid transporter (SLC6A19, 5p15.33) | 34500 |
Hereditary hypophosphatemic rickets with hypercalcemia | Sodium phosphate cotransporter (SLC34A3, 9q34) | 241530 |
Renal hypouricemia | | |
Type 1 | Urate-anion exchanger (SLC22A12, 11q13) | 220150 |
Type 2 | Urate transporter, GLUT9 (SLC2A9, 4p16.1) | 612076 |
Dent disease | Chloride channel, ClC-5 (CLCN5, Xp11.22) | 300009 |
X-linked recessive nephrolithiasis with renal failure | Chloride channel, ClC-5 (CLCN5, Xp11.22) | 310468 |
X-linked recessive hypophosphatemic rickets | Chloride channel, ClC-5 (CLCN5, Xp11.22) | 307800 |
Disorders Involving the Loop of Henle |
Bartter’s syndrome | | |
Type 1 | Sodium, potassium chloride cotransporter (SLC12A1, 15q21.1) | 241200 |
Type 2 | Potassium channel, ROMK (KCNJ1, 11q24) | 601678 |
Type 3 | Chloride channel, ClC-Kb (CLCNKB, 1p36) | 602023 |
with sensorineural deafness | Chloride channel accessory subunit, Barttin (BSND, 1p31) | 602522 |
Autosomal dominant hypocalcemia with Bartter-like syndrome | Calcium-sensing receptor (CASR, 3q13.33) | 601199 |
Familial hypocalciuric hypercalcemia | Calcium-sensing receptor (CASR, 3q13.33) | 145980 |
Primary hypomagnesemia | Claudin-16 or paracellin-1 (CLDN16 or PCLN1, 3q27) | 248250 |
Isolated renal magnesium loss | Sodium potassium ATPase, γ1-subunit (ATP1G1, 11q23) | 154020 |
Disorders Involving the Distal Tubule and Collecting Duct |
Gitelman syndrome | Sodium chloride cotransporter (SLC12A3, 16q13) | 263800 |
Primary hypomagnesemia with secondary hypocalcemia | Melastatin-related transient receptor potential cation channel 6 (TRPM6, 9q22) | 602014 |
Pseudoaldosteronism (Liddle’s syndrome) | Epithelial sodium channel β and γ subunits (SCNN1B, SCNN1G, 16p12.1) | 177200 |
Recessive pseudohypoaldosteronism type 1 | Epithelial sodium channel, α, β, and γ subunits (SCNN1A, 12p13; SCNN1B, SCNN1G, 16pp12.1) | 264350 |
Pseudohypoaldosteronism type 2 (Gordon’s hyperkalemia-hypertension syndrome) | Kinases WNK-1, WNK-4 (WNK1, 12p13; WNK4, 17q21.31) | 145260 |
X-linked nephrogenic diabetes insipidus | Vasopressin V2 receptor (AVPR2, Xq28) | 304800 |
Nephrogenic diabetes insipidus (autosomal) | Water channel, aquaporin-2 (AQP2, 12q13) | 125800 |
Distal renal tubular acidosis | | |
autosomal dominant | Anion exchanger-1 (SLC4A1, 17q21.31) | 179800 |
autosomal recessive | Anion exchanger-1 (SLC4A1, 17q21.31) | 602722 |
with neural deafness | Proton ATPase, β1 subunit (ATP6V1B1, 2p13.3) | 192132 |
with normal hearing | Proton ATPase, 116-kD subunit (ATP6V0A4, 7q34) | 602722 |