| |
| Disease or Syndrome | Gene | OMIMa |
|---|---|---|
Disorders Involving the Proximal Tubule | ||
| Proximal renal tubular acidosis | Sodium bicarbonate co-transporter | |
| (SLC4A4, 4q21) | 604278 | |
| Faconi-Bickel syndrome | Glucose transporter-2 | |
| (SLC2A2 3q26.1-q26.3) | 227810 | |
| Isolated renal glycosuria | Sodium glucose co-transporter | |
| (SLC5A2,16p11.2) | 233100 | |
| Cystinuria, type I | Cystine, dibasic and neutral amino acid transporter | |
| (SLC3A1, 2p16.3) | 220100 | |
| Cystinuria, non-type I | Amino acid transporter, light subunit | |
| (SLC7A9, 19q13.1) | 600918 | |
| Lysinuric protein intolerance | Amino acid transporter | |
| (SLC7A7, 4q11.2) | 222700 | |
| Hereditary hypophosphatemic rickets with hypercalcemia | Sodium phosphate co-transporter | 241530 |
| (SLC34A3, 9q34) | ||
| Renal hypouricemia | Urate-anion exchanger | |
| (SLC22A12, 11q13) | 220150 | |
| Dent disease | Chloride channel, ClC-5 | |
| (CLCN5, Xp11.22) | 300009 | |
| X-linked recessive nephrolithiasis with renal failure | Chloride channel, ClC-5 | 310468 |
| (CLCN5, Xp11.22) | ||
| X-linked recessive hypophosphatemic rickets | Chloride channel, ClC-5 | 307800 |
| (CLCN5, Xp11.22) | ||
Disorders Involving the Loop of Henle | ||
Bartter syndrome, type 1 | Sodium potassium-chloride co-transporter | |
| (SLC12A1,15q15-q21) | 241200 | |
| Bartter syndrome, type 2 | Potassium channel, ROMK | |
| (KCNJ1, 11q24) | 601678 | |
| Bartter syndrome, type 3 | Chloride channel, ClC-Kb | |
| (CLCNKB, 1p36) | 602023 | |
| Bartter syndrome with sensorineural deafness | Chloride channel accessory subunit, barttin | |
| (BSND, 1p31) | 602522 | |
| Autosomal dominant hypocalcemia with Bartter-like syndrome | Calcium-sensing receptor | |
| (CASR, 3q13.3-q21) | 601199 | |
| Familial hypocalciuric hypercalcemia | Calcium-sensing receptor | |
| (CASR, 3q13.3-q21) | 145980 | |
| Primary hypomagnesemia | Claudin-16 or paracellin-1 | |
| (CLDN16 or PCLN1, 3q27) | 248250 | |
| Isolated renal magnesium loss | Sodium potassium ATPase, | |
| (ATP1G1, 11q23) | 154020 | |
| Primary hypomagnesemia with secondary hypocalcemia | Melastatin-related transient receptor potential cation channel 6 | |
| (TRPM6, 9q22) | 602014 | |
Disorders Involving the Distal Tubule and Collecting Duct | ||
| Gitelman's syndrome | Sodium-chloride co-transporter | |
| (SLC12A3, 16q13) | 263800 | |
| Pseudoaldosteronism (Liddle's syndrome) | Epithelial sodium channel | |
| (SCNN1B, SCNN1G, 16p13-p12) | 177200 | |
| Recessive pseudohypoaldosteronism type 1 | Epithelial sodium channel, | |
| (SCNN1A, 12p13; SCNN1B, SCNN1G, 16p13-p12) | 264350 | |
| Pseudohypoaldosteronism type 2 (Gordon hyperkalemia-hypertension syndrome) | Kinases WNK-1, WNK-4 | |
| (WNK1, 12p13; WNK4, 17q21-q22) | 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-q22) | 179800 | |
| Distal renal tubular acidosis, autosomal recessive | Anion exchanger-1 | |
| (SLC4A1, 17q21-q22) | 602722 | |
| Distal renal tubular acidosis with neural deafness | Proton ATPase, | |
| (ATP6B1,2cen-q13) | 192132 | |
| Distal renal tubular acidosis with normal hearing | Proton ATPase, 116-kD subunit | |
| (ATP6N1B, 7q33-q34) | 602722 | |
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