Version July 2025
| Gene(s) | Disease name | Inheritance | Affected nephron segment | Renal manifestations | Extrarenal manifestations |
| Hypomagnesemia with high urine calcium | |||||
| CLDN16, CLDN19 | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | Recessive | TALH | High urine calcium, nephrocalcinosis, CKD | |
| CASR | Autosomal dominant hypocalcemia | Dominant | TALH | High urine calcium, nephrocalcinosis | Hypocalcemia, low PTH |
| CLCKNB | Bartter syndrome, type 3 | Recessive | TALH/DCT | Salt wasting, hypokalemia, metabolic alkalosis, high or low urine calcium | |
| RRAGD | Dominant | TALH/DCT | Salt wasting, hypokalemia, metabolic alkalosis, high urine calcium, nephrocalcinosis | Dilated cardiomyopathy | |
| Hypomagnesemia with low urine calcium (Gitelman-like syndrome) | |||||
| SLC12A3 | Gitelman syndrome | Recessive | DCT | Salt wasting, hypokalemia, metabolic alkalosis, low urine calcium | |
| KCNJ10 | EAST (SeSAME) syndrome | Recessive | DCT | Salt wasting, hypokalemia, metabolic alkalosis, low urine calcium | Seizures, deafness, ataxia, intellectual disability |
| MT-TI, MT-TF | Mitochondrial | Hypokalemia, low urine calcium, CKD | |||
| HNF1B-related disorders | |||||
| HNF1B | Autosomal dominant tubulointerstitial kidney disease (ADTKD)-HNF1B | Dominant | DCT | Low urine calcium | CAKUT, monogenic diabetes |
| PCBD1 | Recessive | DCT | Monogenic diabetes | ||
| Isolated dominant hypomagnesemia | |||||
| FXYD2 | Dominant | DCT | Low urine calcium | ||
| ATP1A1 | Dominant | Seizures in infancy, intellectual disability | |||
| KCNA1 | Dominant | DCT | |||
| CNNM2 | Dominant/recessive | DCT | Seizures in infancy, intellectual disability, obesity | ||
| Other inherited hypomagnesemia | |||||
| EGF | Isolated recessive hypomagnesemia | Recessive | DCT | ||
| TRPM6 | Hypomagnesemia with secondary hypocalcemia | Recessive | DCT | Hypocalcemia | Decreased intestinal magnesium absorption |
