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 |
|---|---|---|---|
| RS2124291470 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2124302024 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2124302051 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2124305307 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2124305315 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2520780587 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2520780876 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2520785174 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2520785330 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2520785369 | Health Risk | Pathogenic | — |
| RS2520785689 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2520813482 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS2520821498 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2520830173 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS2520839861 | Health Risk | Pathogenic | — |
| RS2520840416 | Health Risk | Pathogenic | — |
| RS2520840422 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, HPRT MICHIGAN, Lesch-Nyhan syndrome |
| RS2520840504 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS2520844451 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS369065223 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS387906725 | Health Risk | Pathogenic | Lesch-nyhan syndrome, neurologic variant, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS398123241 | Health Risk | Pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, Thyroid cancer |
| RS672601245 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS727503964 | Health Risk | Pathogenic | — |
| RS786200980 | Health Risk | Pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |
| RS886041288 | Health Risk | Pathogenic | — |
| RS886041298 | Health Risk | Pathogenic | — |
| RS886041930 | Health Risk | Pathogenic | — |
| RS137852477 | Health Risk | Pathogenic; other | HPRT ANN ARBOR, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ANN ARBOR |
| RS137852479 | Health Risk | Pathogenic; other | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLE, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852480 | Health Risk | Pathogenic; other | Lesch-Nyhan syndrome, HPRT DETROIT, Lesch-Nyhan syndrome |
| RS137852481 | Health Risk | Pathogenic; other | HPRT FLINT, Lesch-Nyhan syndrome, HPRT FLINT |
| RS137852485 | Health Risk | Pathogenic; other | HPRT MUNICH, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MUNICH |
| RS137852486 | Health Risk | Pathogenic; other | Lesch-Nyhan syndrome, HPRT NEW BRITON, Lesch-Nyhan syndrome |
| RS137852495 | Health Risk | Pathogenic; other | HPRT MONTREAL, Lesch-nyhan syndrome, neurologic variant |
| RS137852499 | Health Risk | Pathogenic; other | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT URANGAN, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852500 | Health Risk | Pathogenic; other | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TOOWONG, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852501 | Health Risk | Pathogenic; other | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT SWAN, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852504 | Health Risk | Pathogenic; other | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MOOSE JAW, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852505 | Health Risk | Pathogenic; other | Lesch-Nyhan syndrome, HPRT PARIS, Lesch-Nyhan syndrome |
| RS387906428 | Health Risk | Pathogenic; other | Lesch-Nyhan syndrome, HPRT EVANSVILLE, Lesch-Nyhan syndrome |
| RS137852497 | Health Risk | Pathogenic/Likely pathogenic | Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome |