HPRT1 Chromosome X
Hypoxanthine phosphoribosyltransferase 1
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What This Gene Does
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
Associated Conditions (36)
HPRT1-related disorder
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Nephrolithiasis/nephrocalcinosis
HPRT ARLINGTON
HPRT LONDON
HPRT MILWAUKEE
Thyroid cancer
nonmedullary
1
HPRT YALE
HPRT MIDLAND
HPRT NEW HAVEN
HPRT TORONTO
HPRT FUJIMI
Microcephaly
HPRT CHICAGO
HPRT COORPAROO
HPRT CHERMSIDE
HPRT MICHIGAN
+16 more conditions
Key Variants
RS2124305311
Conflicting classifications of pathogenicity
HPRT1-related disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Health Risk
RS748658007
Conflicting classifications of pathogenicity
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Health Risk
RS763953406
Conflicting classifications of pathogenicity
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Health Risk
RS794727238
Conflicting classifications of pathogenicity
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT1-related disorder
Health Risk
RS1131691486
Likely pathogenic
Health Risk
RS1247346147
Likely pathogenic
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Health Risk
RS137852478
Likely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON, Lesch-Nyhan syndrome
Health Risk
RS137852482
Likely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT LONDON, Lesch-Nyhan syndrome
Health Risk
RS137852484
Likely pathogenic
HPRT MILWAUKEE, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Health Risk
RS137852488
Likely pathogenic
HPRT YALE, Lesch-Nyhan syndrome, HPRT YALE
Health Risk
RS137852490
Likely pathogenic
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
Health Risk
RS1556026984
Likely pathogenic
Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2124305311 | Health Risk | Conflicting classifications of pathogenicity | HPRT1-related disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS748658007 | Health Risk | Conflicting classifications of pathogenicity | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS763953406 | Health Risk | Conflicting classifications of pathogenicity | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS794727238 | Health Risk | Conflicting classifications of pathogenicity | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT1-related disorder |
| RS1131691486 | Health Risk | Likely pathogenic | — |
| RS1247346147 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS137852478 | Health Risk | Likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON, Lesch-Nyhan syndrome |
| RS137852482 | Health Risk | Likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT LONDON, Lesch-Nyhan syndrome |
| RS137852484 | Health Risk | Likely pathogenic | HPRT MILWAUKEE, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS137852488 | Health Risk | Likely pathogenic | HPRT YALE, Lesch-Nyhan syndrome, HPRT YALE |
| RS137852490 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS1556026984 | Health Risk | Likely pathogenic | Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis |
| RS1556030169 | Health Risk | Likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS1569354918 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, HPRT1-related disorder, Lesch-Nyhan syndrome |
| RS1569360139 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, HPRT1-related disorder, Lesch-Nyhan syndrome |
| RS2124280474 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2124290378 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2124305218 | Health Risk | Likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2520785056 | Health Risk | Likely pathogenic | Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis |
| RS267606863 | Health Risk | Likely pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS398123240 | Health Risk | Likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS1135401801 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852483 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT MIDLAND, Lesch-Nyhan syndrome |
| RS137852487 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT NEW HAVEN, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852489 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS137852491 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852492 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852493 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852494 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TORONTO, HPRT FUJIMI |
| RS137852496 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852498 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852506 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS1556030344 | Health Risk | Pathogenic | — |
| RS1569359021 | Health Risk | Pathogenic | — |
| RS1569360089 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS1602741150 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS1602745376 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2077579380 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2077615673 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT CHICAGO, Lesch-Nyhan syndrome |
| RS2077615719 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT COORPAROO, Lesch-Nyhan syndrome |
| RS2077615821 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2077673385 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT CHERMSIDE, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2077687093 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2077687102 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2077687660 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2124280504 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2124280518 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2124290355 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2124291425 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2124291450 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |