Table 1.

List of inherited tubulopathies

DisorderInheritanceGeneProteinOMIM
Proximal tubule
 Fanconi renotubular syndrome 1ADGATML-ARGININE:GLYCINE AMIDINOTRANSFERASE#134600
 Fanconi renotubular syndrome 2ARSLC34A1NaPi2A#182309
 Fanconi renotubular syndrome 3ADEHHADHPBFE#607037
 Fanconi renotubular syndrome 4ADHNF4AHNF-4#600281
 Fanconi Bickel syndromeARSLC2A2GLUT-2#138160
 Dent disease type 1XLRCLCN5CLC-5#300008
 Dent disease type 2/Lowe syndromeXLROCRLOCRL#300535
 Renal tubular acidosis type 3ARCA2Carbonic anhydrase 2#611492
 Hereditary hypophosphatemic rickets with hypercalciuriaARSLC34A3NaPi2c#241530
 X-linked hypophosphatemic ricketsXLDPHEXPHEX#307800
 Cystinuria AADSLC3A1rBAT#104614
 Cystinuria BARSLC7A9b(0,+)AT1#604144
 Lysinuric protein intoleranceARSLC7A7y(+)LAT1#222700
 Hartnup disorderARSLC6A19B(0)AT1#234500
 IminoglycinuriaAR/digenicSLC36A2+SLC6A20/SLC6A19SLC36A2+SLC6A20/SLC6A19#242600
 Dicarboxylic aminoaciduriaARSLC1A1?#222730
Thick ascending limb
 Bartter type 1ARSLC12A1NKCC2#600839
 Bartter type 2ARKCNJ1ROMK#600359
 Bartter type 3ARCLCNKBCLC-Kb#602023
 Bartter type 4aARBSNDBarttin#606412
 Bartter type 4bDigenicCLCNKA+CLCNKBCLC-Ka+CLC-Kb#602024
 Bartter type 5XRMAGED2MAGED2#601199
 Hypomagnesemia type 3/familial hypomagnesemia with hypercalciuria and nephrocalcinosisARCLDN16Claudin16#603959
 Hypomagnesemia type 5/familial hypomagnesemia with hypercalciuria and nephrocalcinosisARCLDN19Claudin19#610036
 Autosomal dominant hypocalcemiaADCaSRCalcium-sensing receptor#601198
 Kenny−Caffey syndrome type 2ADFAM111AFAM111A#127000
Distal convoluted tubule
 Gitelman syndromeARSLC12A3NCCT#600968
 EAST/SeSAME syndromeARKCNJ10Kir4.1#602028
 Pseudohypoaldosteronism type 2bADWNK4WNK4#601844
 Pseudohypoaldosteronism type 2cADWNK1WNK1#605232
 Pseudohypoaldosteronism type 2dAD/ARKLHL3KLHL3#614495
 Pseudohypoaldosteronism type 2eADCUL3CUL3#614496
 Hypomagnesemia type 1/hypomagnesemia with secondary hypocalcemiaARTRPM6TRPM6#607009
 Hypomagnesemia type 2ADFXYD2Na-K-ATPase#154020
 Autosomal dominant hypomagnesemiaADKCNA1Kv1.1#176260
 HNF1B-related kidney diseaseADHNF1BHNF1B#137920
 Hyperphenylalaninemia BH4-deficientARPCBD1PCDB1#264070
 Hypomagnesemia type 4AREGFEGF#611718
 Neonatal inflammatory skin and bowel disease type 2AREGFREGFR#616069
 Hypomagnesemia, seizures, and mental retardation type 1AD/ARCNNM2CNNM2#613882
 Hypomagnesemia, seizures, and mental retardation type 2De novoATP1A1ATP1A1#618314
Collecting duct
 Pseudohypoaldosteronism type 1ARSCNN1AENaC α subunit#600228
 Pseudohypoaldosteronism type 1ARSCNN1BENaC β subunit#600760
 Pseudohypoaldosteronism type 1ARSCNN1GENaC γ subunit#600761
 Pseudohypoaldosteronism type 1AADNR3C2MR#600983
 Liddle syndromeADSCNN1BENaC β subunit#600760
 Liddle syndromeADSCNN1GENaC γ subunit#600761
 Apparent mineralocorticoid excessARHSD11B211-β-HSD2#614232
 Glucocorticoid remediable aldosteronismADCYP11B1/CYP11B211-β-hydroxylase/ALDOS#610613
 Congenital adrenal hyperplasia type 1ARCYP21A221-hydroxylase#613815
 Congenital adrenal hyperplasia type 2ARHSD3B23-β-HSD2#613890
 Congenital adrenal hyperplasia type 4ARCYP11B111-β-hydroxylase#610613
 Congenital adrenal hyperplasia type 5ARCYP17A117-α-hydroxylase#609300
 Nephrogenic diabetes insipidusXLRAVPR2AVPR2#300538
 Nephrogenic diabetes insipidusAR/ADAQP2AQP-2#107777
 Nephrogenic syndrome of inappropriate antidiuresisXLRAVPR2V2R#300538
 Nephrogenic syndrome of inappropriate antidiuresisADGNASG-α s
 Distal RTAAD/ARSLC4A1AE1#109270
 Distal RTAARATP6V1B1V-ATPase subunit B1#192132
 Distal RTAARATP6V0A4V-ATPase subunit a4#605239
 Distal RTAARFOXI1Forkhead box protein I1#601093
 Distal RTAARWDR72WD 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.