Table 1.
List of inherited tubulopathies
| Disorder | Inheritance | Gene | Protein | OMIM |
|---|---|---|---|---|
| Proximal tubule | ||||
| Fanconi renotubular syndrome 1 | AD | GATM | L-ARGININE:GLYCINE AMIDINOTRANSFERASE | #134600 |
| Fanconi renotubular syndrome 2 | AR | SLC34A1 | NaPi2A | #182309 |
| Fanconi renotubular syndrome 3 | AD | EHHADH | PBFE | #607037 |
| Fanconi renotubular syndrome 4 | AD | HNF4A | HNF-4 | #600281 |
| Fanconi Bickel syndrome | AR | SLC2A2 | GLUT-2 | #138160 |
| Dent disease type 1 | XLR | CLCN5 | CLC-5 | #300008 |
| Dent disease type 2/Lowe syndrome | XLR | OCRL | OCRL | #300535 |
| Renal tubular acidosis type 3 | AR | CA2 | Carbonic anhydrase 2 | #611492 |
| Hereditary hypophosphatemic rickets with hypercalciuria | AR | SLC34A3 | NaPi2c | #241530 |
| X-linked hypophosphatemic rickets | XLD | PHEX | PHEX | #307800 |
| Cystinuria A | AD | SLC3A1 | rBAT | #104614 |
| Cystinuria B | AR | SLC7A9 | b(0,+)AT1 | #604144 |
| Lysinuric protein intolerance | AR | SLC7A7 | y(+)LAT1 | #222700 |
| Hartnup disorder | AR | SLC6A19 | B(0)AT1 | #234500 |
| Iminoglycinuria | AR/digenic | SLC36A2+SLC6A20/SLC6A19 | SLC36A2+SLC6A20/SLC6A19 | #242600 |
| Dicarboxylic aminoaciduria | AR | SLC1A1 | ? | #222730 |
| Thick ascending limb | ||||
| Bartter type 1 | AR | SLC12A1 | NKCC2 | #600839 |
| Bartter type 2 | AR | KCNJ1 | ROMK | #600359 |
| Bartter type 3 | AR | CLCNKB | CLC-Kb | #602023 |
| Bartter type 4a | AR | BSND | Barttin | #606412 |
| Bartter type 4b | Digenic | CLCNKA+CLCNKB | CLC-Ka+CLC-Kb | #602024 |
| Bartter type 5 | XR | MAGED2 | MAGED2 | #601199 |
| Hypomagnesemia type 3/familial hypomagnesemia with hypercalciuria and nephrocalcinosis | AR | CLDN16 | Claudin16 | #603959 |
| Hypomagnesemia type 5/familial hypomagnesemia with hypercalciuria and nephrocalcinosis | AR | CLDN19 | Claudin19 | #610036 |
| Autosomal dominant hypocalcemia | AD | CaSR | Calcium-sensing receptor | #601198 |
| Kenny−Caffey syndrome type 2 | AD | FAM111A | FAM111A | #127000 |
| Distal convoluted tubule | ||||
| Gitelman syndrome | AR | SLC12A3 | NCCT | #600968 |
| EAST/SeSAME syndrome | AR | KCNJ10 | Kir4.1 | #602028 |
| Pseudohypoaldosteronism type 2b | AD | WNK4 | WNK4 | #601844 |
| Pseudohypoaldosteronism type 2c | AD | WNK1 | WNK1 | #605232 |
| Pseudohypoaldosteronism type 2d | AD/AR | KLHL3 | KLHL3 | #614495 |
| Pseudohypoaldosteronism type 2e | AD | CUL3 | CUL3 | #614496 |
| Hypomagnesemia type 1/hypomagnesemia with secondary hypocalcemia | AR | TRPM6 | TRPM6 | #607009 |
| Hypomagnesemia type 2 | AD | FXYD2 | Na-K-ATPase | #154020 |
| Autosomal dominant hypomagnesemia | AD | KCNA1 | Kv1.1 | #176260 |
| HNF1B-related kidney disease | AD | HNF1B | HNF1B | #137920 |
| Hyperphenylalaninemia BH4-deficient | AR | PCBD1 | PCDB1 | #264070 |
| Hypomagnesemia type 4 | AR | EGF | EGF | #611718 |
| Neonatal inflammatory skin and bowel disease type 2 | AR | EGFR | EGFR | #616069 |
| Hypomagnesemia, seizures, and mental retardation type 1 | AD/AR | CNNM2 | CNNM2 | #613882 |
| Hypomagnesemia, seizures, and mental retardation type 2 | De novo | ATP1A1 | ATP1A1 | #618314 |
| Collecting duct | ||||
| Pseudohypoaldosteronism type 1 | AR | SCNN1A | ENaC α subunit | #600228 |
| Pseudohypoaldosteronism type 1 | AR | SCNN1B | ENaC β subunit | #600760 |
| Pseudohypoaldosteronism type 1 | AR | SCNN1G | ENaC γ subunit | #600761 |
| Pseudohypoaldosteronism type 1A | AD | NR3C2 | MR | #600983 |
| Liddle syndrome | AD | SCNN1B | ENaC β subunit | #600760 |
| Liddle syndrome | AD | SCNN1G | ENaC γ subunit | #600761 |
| Apparent mineralocorticoid excess | AR | HSD11B2 | 11-β-HSD2 | #614232 |
| Glucocorticoid remediable aldosteronism | AD | CYP11B1/CYP11B2 | 11-β-hydroxylase/ALDOS | #610613 |
| Congenital adrenal hyperplasia type 1 | AR | CYP21A2 | 21-hydroxylase | #613815 |
| Congenital adrenal hyperplasia type 2 | AR | HSD3B2 | 3-β-HSD2 | #613890 |
| Congenital adrenal hyperplasia type 4 | AR | CYP11B1 | 11-β-hydroxylase | #610613 |
| Congenital adrenal hyperplasia type 5 | AR | CYP17A1 | 17-α-hydroxylase | #609300 |
| Nephrogenic diabetes insipidus | XLR | AVPR2 | AVPR2 | #300538 |
| Nephrogenic diabetes insipidus | AR/AD | AQP2 | AQP-2 | #107777 |
| Nephrogenic syndrome of inappropriate antidiuresis | XLR | AVPR2 | V2R | #300538 |
| Nephrogenic syndrome of inappropriate antidiuresis | AD | GNAS | G-α s | |
| Distal RTA | AD/AR | SLC4A1 | AE1 | #109270 |
| Distal RTA | AR | ATP6V1B1 | V-ATPase subunit B1 | #192132 |
| Distal RTA | AR | ATP6V0A4 | V-ATPase subunit a4 | #605239 |
| Distal RTA | AR | FOXI1 | Forkhead box protein I1 | #601093 |
| Distal RTA | AR | WDR72 | WD repeat-containing protein 72 | #613214 |
Listed are primary renal tubulopathies grouped by affected nephron segment, the underlying gene(s), and encoded protein(s), as well as their OMIM entry number. OMIM, Online Mendelian Inheritance in Man; AD, autosomal dominant; AR, autosomal recessive; XLR, x-linked recessive; RTA, renal tubular acidosis.