Table 8.
Thirty monogenic genes that cause urinary stone disease (USD) if mutated.
| Gene | Protein | Disease entity | Mode of inheritance | Reference |
|---|---|---|---|---|
| ADCY10/SAC | adenylate cyclase 10 (soluble) | Hypercalciuria, Calcium oxalate nephrolithiasis | AD | 181 |
| AGXT | alanine-glyoxylate aminotransferase | Primary hyperoxaluria, type 1 | AR | 182 |
| APRT | adenine phosphoribosyltransferase | Adenine phosphoribosyltransferase deficiency, Urolithiasis (DHA stones), renal failure | AR | 183 |
| ATP6V0A4 | ATPase, H+ transporting, lysosomal V0 subunit a4 | dRTA | AR | 184 |
| ATP6V1B1 | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 |
Distal renal tubular acidosis (dRTA) with deafness | AR | 185 |
| CA2 | carbonic anhydrase II | Osteopetrosis + d/pRTA | AR | 186 |
| CASR | calcium-sensing receptor | Hypocalcemia with Bartter syndrome/hypocalcemia, autosomal dominant | AD | 187 |
| CLCN5 | chloride channel, voltage-sensitive 5 | Dent disease/Nephrolithiasis, type 1 | XR | 188 |
| CLCNKB | chloride channel, voltage-sensitive Kb | Bartter syndrome, type 3 | AR | 189 |
| CLDN16 | claudin 16 | Familial hypomagnesemia with hypercalciuria & nephrocalcinosis, FHHNC | AR | 190 |
| CLDN19 | claudin 19 | Familial hypomagnesemia with hypercalciuria & nephrocalcinosis with ocular abnormalities | AR | 191 |
| CYP24A1 | cytochrome P450, family 24, subfamily A, polypeptide 1 | 1,25-(OH) D-24 hydroxylase deficiency, infantile Hypercalcemia |
AR | 192 |
| FAM20A | family with sequence similarity 20, member A | Enamel-Renal syndrome, amelogenesis imperfect and nephrocalcinosis | AR | 193 |
| GRHPR | glyoxylate reductase/hydroxypyruvate reductase | Primary hyperoxaluria, type 2 | AR | 194 |
| HNF4A | hepatocyte nuclear factor 4, alpha | MODY + Fanconi syndrome + Nephrocalcinosis | AD | 195 |
| HOGA1 | 4-hydroxy-2-oxoglutarate aldolase 1 | Primary hyperoxaluria, type 3 | AR | 196 |
| HPRT1 | Hypoxanthine phosphoribosyltransferase 1 | Kelley-Seegmiller syndrome, partial HPRT deficiency, HPRT-related gout | XR | 197 |
| KCNJ1 | potassium inwardly-rectifying channel, subfamily J, member 1 | Bartter syndrome, type 2 | AR | 198 |
| OCRL | oculocerebrorenal syndrome of Lowe | Lowe syndrome/Dent disease 2 | XR | 199 |
| SLC12A1 | solute carrier family 12, member 1 | Bartter syndrome, type 1 | AR | 200 |
| SLC22A12 | solute carrier family 22 (organic anion/urate transporter), member 12 | Renal hypouricemia, RHUC1 | AD/AR | 201 |
| SLC2A9 | solute carrier family 2 (facilitated glucose transporter), member 9 | Renal hypouricemia, RHUC2 | AD/AR | 202 |
| SLC34A1 | solute carrier family 34 (sodium phosphate), member 1 | Hypophosphatemic nephrolithiasis/osteoporosis-1, NPHLOP1/Fanconi renotubular syndrome 2 | AD/AR | 203 |
| SLC34A3 | solute carrier family 34 (sodium phosphate), member 3 | Hypophosphatemic rickets with hypercalciuria | AR | 204 |
| 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 | AR | 205 |
| SLC4A1 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) | Primary distal renal tubular acidosis, dominant/recessive | AD/AR | 206 |
| SLC7A9 | solute carrier family 7 (glycoproteinassociated amino acid transporter light chain, bo,+ system), member 9 | Cystinuria, type B | AD/AR | 207 |
| SLC9A3R1 | solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 | Hypophosphatemic nephrolithiasis/osteoporosis-2, NPHLOP2 | AD | 208 |
| VDR | vitamin D (1,25- dihydroxyvitamin D3) receptor | Idiopathic hypercalciuria | AD | 209 |
| XDH | xanthine dehydrogenase | Xanthinuria, type 1 | AR | 210 |
AD, autosomal dominant; AR, autosomal recessive