Disease | Gene | Gene product | Inheritance | Part of nephron affected | Phenotype OMIM number |
---|---|---|---|---|---|
Bartter syndrome (Antenatal—type I) | SLC12A1 | Sodium/potassium/chloride (NKCC2) co-transporter | Autosomal recessive | Thick ascending limb of loop of Henle | 601678 |
Bartter syndrome (Classical—type III) | CLCNKB | Chloride channel Kb | Autosomal recessive | Thick ascending limb of loop of Henle | 607364 |
Gitelman syndrome | SLC12A3 | Thiazide-sensitive sodium chloride co-transporter (NCCT) | Autosomal Recessive | Distal convoluted tubule | 263800 |
Liddle's syndrome | SCNN1G, SCNN1B | Gain of function mutation in renal sodium channel (α-subunit or β-subunit, respectively) | Autosomal Dominant | Collecting duct (cortical) | 177200 |
Nephrogenic diabetes insipidus | AVPR2 | Vasopressin V2 receptor | X-Linked (most commonly) | Collecting duct | 304800 |
OMIM, Online Mendelian Inheritance in Man.