Table 1.
Genes, known to cause monogenic forms of NL/NC.
| Gene symbola | Gene name | Disease entity | MIM phenotype # | Mode | Reference |
|---|---|---|---|---|---|
| ADCY10 | Adenylate cyclase 10 | Idiopathic (absorptive) hypercalciuria, susceptibility | 143870 | AD | (11) |
| AGXT | Alanine-glyoxylate aminotransferase | Primary hyperoxaluria (PH), type 1, PH1 | 259900 | AR | (12) |
| APRT | Adenine phosphoribosyltransferase | Adenine phosphoribosyltransferase deficiency, APRT | 614723 | AR | (13) |
| ATP6V0A4 | ATPase, H+ transporting, lysosomal V0 subunit a4 | dRTA | 602722 | AR | (14) |
| ATP6V1B1 | ATPase, H+ transporting, lysosomal, V1 subunit B1 | dRTA with deafness | 267300 | AR | (15) |
| CA2 | Carbonic anhydrase II | Osteopetrosis + d/pRTA | 259730 | AR | (16) |
| CASR | Calcium-sensing receptor | Hypocalcemia with Bartter syndrome/hypocalcemia, AD | 601198 | AD | (17) |
| CLCN5 | Chloride channel, voltage-sensitive 5 | Dent disease/NL, type 1 | 300009/310468 | XR | (18) |
| CLCNKB | Chloride channel, voltage-sensitive Kb | Bartter syndrome, type 3 | 607364 | AR | (19) |
| CLDN16 | Claudin 16 | Familial hypomagnesemia with hypercalciuria and NC, FHHNC | 248250 | AR | (20) |
| CLDN19 | Claudin 19 | Familial hypomagnesemia with hypercalciuria and NC with ocular abnormalities | 248190 | AR | (21) |
| CYP24A1 | Cytochrome P450, family 24, subfamily A, polypeptide 1 | 1,25-(OH) D-24 hydroxylase deficiency, infantile hypercalcemia | 143880 | AR | (22) |
| FAM20A | Family with sequence similarity 20, member A | Enamel renal syndrome, amelogenesis imperfect, and NC | 204690 | AR | (23) |
| GRHPR | Glyoxylate reductase/hydroxypyruvate reductase | PH, type 2, PH2 | 260000 | AR | (24) |
| HNF4A | Hepatocyte nuclear factor 4, alpha | MODY + Fanconi syndrome + NC (p.R76W) | 125850 | AD | (25) |
| HOGA1 | 4-Hydroxy-2-oxoglutarate aldolase 1 | PH, type 3, PH3 | 613616 | AR | (26) |
| HPRT1 | Hypoxanthine phosphoribosyltransferase 1 | Kelley–Seegmiller syndrome, partial HPRT deficiency, HPRT-related gout | 300323 | XR | (27) |
| KCNJ1 | Potassium inwardly rectifying channel, subfamily J, member 1 | Bartter syndrome, type 2 | 241200 | AR | (28) |
| MAGED2 | Melanoma antigen, family D, 2 | Bartter syndrome, type 5 | 300971 | XR | (29) |
| OCRL | Oculocerebrorenal syndrome of Lowe | Lowe syndrome/Dent disease 2 | 309000/300555 | XR | (30) |
| SLC12A1 | Solute carrier family 12, member 1 | Bartter syndrome, type 1 | 601678 | AR | (31) |
| SLC26A1 | Solute carrier family 26 (sulfate transporter), member 1 | Ca-oxalate-NL | 167030 | AR | (32) |
| SLC22A12 | Solute carrier family 22 (organic anion/urate transporter), member 12 | Renal hypouricemia, RHUC1 | 220150 | AD/AR | (33) |
| SLC2A9 | Solute carrier family 2 (facilitated glucose transporter), member 9 | Renal hypouricemia, RHUC2 | 612076 | AD/AR | (10) |
| SLC34A1 | Solute carrier family 34 (sodium phosphate), member 1 | Hypophosphatemic NL, osteoporosis-1, NPHLOP1/Fanconi renotubular syndrome 2 | 612286/613388 | AD/AR | (34) |
| SLC34A3 | Solute carrier family 34 (sodium phosphate), member 3 | Hypophosphatemic rickets with hypercalciuria | 241530 | AR | (35) |
| SLC3A1 | Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 | Cystinuria, type A | 220100 | AR | (36) |
| SLC4A1 | Solute carrier family 4, anion exchanger, member 1 | Primary dRTA, dominant/recessive | 179800/611590 | AD/AR | (37) |
| SLC7A9 | Solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo, +system), member 9 | Cystinuria, type B | 220100 | AD/AR | (38) |
| SLC9A3R1 | Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 | Hypophosphatemic NL, osteoporosis-2, NPHLOP2 | 612287 | AD | (39) |
| VDR | Vitamin D (1,25-dihydroxyvitamin D3) receptor | Idiopathic hypercalciuria | 277440 | AD | (40) |
| XDH | Xanthine dehydrogenase | Xanthinuria, type 1 | 278300 | AR | (41) |
aFor HNF4A the MIM-phenotype number denotes MODY type 1, as occurrence of Fanconi syndrome and NC has only been shown in the presence of a specific allele: p.R76W.
AD, autosomal dominant; AR, autosomal recessive; dRTA, distal renal tubular acidosis; MODY, maturity onset diabetes of the young; NC, nephrocalcinosis; NL, nephrolithiasis; pRTA, proximal renal tubular acidosis; XR, X-chromosomal recessive.