PRPS1 Chromosome X
Phosphoribosyl pyrophosphate synthetase 1
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What This Gene Does
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Associated Conditions (13)
Charcot-Marie-Tooth Neuropathy X
Nephrolithiasis/nephrocalcinosis
Arts syndrome
Phosphoribosylpyrophosphate synthetase superactivity
Hearing loss
X-linked 1
Charcot-Marie-Tooth disease X-linked recessive 5
Retinal dystrophy
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
PRPS1-related disorder
Key Variants
RS1925561449
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1925730100
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Nephrolithiasis/nephrocalcinosis, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS200259438
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Phosphoribosylpyrophosphate synthetase superactivity
Health Risk
RS2147682409
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked recessive 5, Retinal dystrophy
Health Risk
RS2147684782
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS2521336794
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS370453137
Conflicting classifications of pathogenicity
Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, Hearing loss
Health Risk
RS137852540
Likely pathogenic
Phosphoribosylpyrophosphate synthetase superactivity, Inborn genetic diseases, Arts syndrome
Health Risk
RS137852541
Likely pathogenic
Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, Phosphoribosylpyrophosphate synthetase superactivity
Health Risk
RS1556297584
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1602893221
Likely pathogenic
Health Risk
RS1602901832
Likely pathogenic
Phosphoribosylpyrophosphate synthetase superactivity, Thyroid cancer, nonmedullary
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1925561449 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1925730100 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Nephrolithiasis/nephrocalcinosis, Charcot-Marie-Tooth Neuropathy X |
| RS200259438 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Phosphoribosylpyrophosphate synthetase superactivity |
| RS2147682409 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked recessive 5, Retinal dystrophy |
| RS2147684782 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Charcot-Marie-Tooth Neuropathy X |
| RS2521336794 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Charcot-Marie-Tooth Neuropathy X |
| RS370453137 | Health Risk | Conflicting classifications of pathogenicity | Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, Hearing loss |
| RS137852540 | Health Risk | Likely pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Inborn genetic diseases, Arts syndrome |
| RS137852541 | Health Risk | Likely pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome, Phosphoribosylpyrophosphate synthetase superactivity |
| RS1556297584 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1602893221 | Health Risk | Likely pathogenic | — |
| RS1602901832 | Health Risk | Likely pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Thyroid cancer, nonmedullary |
| RS1925733148 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2147681381 | Health Risk | Likely pathogenic | Arts syndrome, Arts syndrome |
| RS2521317854 | Health Risk | Likely pathogenic | — |
| RS2521345889 | Health Risk | Likely pathogenic | Hearing loss, X-linked 1, Hearing loss |
| RS2521349816 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS768454424 | Health Risk | Likely pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity |
| RS80338732 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS867288458 | Health Risk | Likely pathogenic | Retinal dystrophy, Hearing loss, Retinal dystrophy |
| RS879253919 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth Neuropathy X, Arts syndrome, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS879253970 | Health Risk | Likely pathogenic | — |
| RS137852542 | Health Risk | Pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity |
| RS137852543 | Health Risk | Pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity |
| RS137852544 | Health Risk | Pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity |
| RS137852545 | Health Risk | Pathogenic | Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity |
| RS1556299881 | Health Risk | Pathogenic | Inborn genetic diseases, Arts syndrome, Inborn genetic diseases |
| RS180177151 | Health Risk | Pathogenic | Hearing loss, X-linked 1, Hearing loss |
| RS180177153 | Health Risk | Pathogenic | Hearing loss, X-linked 1, Hearing loss |
| RS2147681484 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147684810 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2521342044 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2521342152 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2521345872 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS398122855 | Health Risk | Pathogenic | Arts syndrome, Arts syndrome |
| RS587777150 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS587781261 | Health Risk | Pathogenic | Hearing loss, X-linked 1, Hearing loss |
| RS587781263 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS80338675 | Health Risk | Pathogenic | Arts syndrome, Arts syndrome |
| RS80338731 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS869025593 | Health Risk | Pathogenic | Arts syndrome, Hearing loss, X-linked 1 |
| RS869025594 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS1556300610 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Charcot-Marie-Tooth Neuropathy X, Retinal dystrophy |
| RS1556300621 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Phosphoribosylpyrophosphate synthetase superactivity, Hearing loss |
| RS180177154 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, X-linked 1, PRPS1-related disorder |
| RS587781262 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 5 |