eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gitelman syndrome |
| Comorbidity | C0004775|hypokalemic alkalosis |
| Sentences | 1 |
| PubMedID- 22907601 | Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of gitelman syndrome, with hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. |
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