Table 3.
Rare (Monogenic) Forms of Urolithiasis Associated with Other Metabolic Abnormalities/Inborn Errors
| Phenotype | Disease | Inheritance Pattern | Gene | Locus | Gene Product | Gene Function |
|---|---|---|---|---|---|---|
| Purine/Pyrimidine Abnormalities | Lesch-Nyhan syndrome (HPRT deficiency) (MIM 308000) | X-linked recessive | HPRT | Xq26-q27.2 | HPRT | Enzyme |
| Phosphoribosyl-pyrophosphate synthetase superactivity PRPS (MIM 311850) | X-linked recessive | PRPS1 | Xq22-q24 | PRPS | Enzyme | |
| Adenine Phosphoribosyl-transferase deficiency 2,8-Dihydroxyadeniuria (MIM 102600) | Autosomal recessive | APRT | 16q24.3 | APRT | Enzyme | |
| Renal hypouricemia (MIM 607096) | Autosomal recessive | SLC22A12 | 11q13 | URAT1 | Exchanger | |
| Xanthinuria (MIM 607633) | Autosomal recessive | XDH | 2p22-p23 | XDH | Enzyme | |
| Orotic aciduria (MIM 258900) | Autosomal recessive | UMPS | 3q13 | UMPS | Enzyme | |
| Hyperoxaluria | Primary hyperoxaluria type 1 (MIM 604285) | Autosomal recessive | AGXT | 2q36-q37.3 | AGT | Enzyme |
| Primary hyperoxaluria type 2 (MIM 604296) | Autosomal recessive | GRHPR | 9q11.p11 | GRHPR | Enzyme | |
| Cystinuria | ||||||
| Type A (MIM 104614) | Autosomal recessive | SLC3A1 | 2p16.3 | RBAT | Transporter | |
| Type B (MIM 604144) | Autosomal recessive/?dominant | SLC7A9 | 19q13.1 | SLC7A9 | Transporter |