Phosphoribosylpyrophosphate Synthetase Superactivity (PRPS1 SUPERACTIVITY)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

MalaCards integrated aliases for Phosphoribosylpyrophosphate Synthetase Superactivity:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 57 12 25 20 43 58 72 36 29 6 44 15 70
Prps1 Superactivity 57 12 20 43 58 72
Prpp Synthetase Superactivity 12 20 43 58
Gout, Prps-Related 57 43 13
Severe Phosphoribosylpyrophosphate Synthetase Superactivity 58
Mild Phosphoribosylpyrophosphate Synthetase Superactivity 58
Superactivity, Phosphoribosylpyrophosphate Synthetase 39
Severe Prpp Synthetase Superactivity 58
Mild Prpp Synthetase Superactivity 58
Prpp Synthetase Overactivity 43
Severe Prps1 Superactivity 58
Mild Prps1 Superactivity 58
Prs Superactivity 43
Prps-Related Gout 72
Prs Overactivity 43


Orphanet epidemiological data:

phosphoribosylpyrophosphate synthetase superactivity
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;
mild phosphoribosylpyrophosphate synthetase superactivity
Inheritance: X-linked recessive; Age of onset: Adolescent,Adult;
severe phosphoribosylpyrophosphate synthetase superactivity
Inheritance: X-linked recessive; Age of onset: Childhood,Infancy;


57 (Updated 05-Apr-2021)
x-linked recessive

two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
heterozygous females may have gout and/or sensorineural deafness


phosphoribosylpyrophosphate synthetase superactivity:
Inheritance x-linked recessive inheritance


Penetrance Penetrance is complete in hemizygous males.


Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3222 Definition Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms). Epidemiology PRPP synthetase superactivity is a rare disorder with less than 30 families described in the literature to date. Clinical description PRPP synthetase superactivity affects mainly males. Most individuals (approximately 75%) are affected by the milder form, which manifests in late adolescence or early adulthood, usually with uric acid crystalluria and (kidney and/or bladder) urinary stones, followed by the development of gouty arthritis and eventually renal failure as a result of obstructive uropathy from uric acid crystal deposition. The severe form usually starts from infancy or early childhood and shares the same clinical features with the mild form but also shows neurologic impairment, mainly sensorineural hearing loss, hypotonia, ataxia, developmental delay, and /or intellectual disability. Heterozygous carrier women are either asymptomatic or display mild metabolic and neurologic symptoms. Etiology The disease is due to overactivity of ribose-phosphate pyrophosphokinase 1 (PRS-I), an enzyme that catalyzes the synthesis of PRPP, a cofactor involved in the synthesis of purine and pyrimidine nucleotides. PRS-I overactivity results in the overproduction of purine nucleotides and uric acid (a waste product of purine breakdown). In the severe form, PRS-I overactivity is due to gain-of-function point mutations in the open reading frame of the PRSP1 gene (Xq22.3) encoding PRS-I, that lead to defective allosteric control of PRS-I isoform activity. The exact molecular mechanism leading to the mild form is not yet well understood as no mutations have been found in PRSP1, but it seems to be linked to increased rates of PRSP1 transcription. Diagnostic methods In both forms, diagnosis is based on blood and urine analysis showing hyperuricemia, hyperuricosuria, and uric acid crystalluria. Diagnosis is confirmed by PRS enzyme assay showing increased PRS-I activity in fibroblasts, lymphoblasts, and erythrocytes. Molecular genetic testing also confirms the diagnosis in the severe forms. Differential diagnosis Differential diagnosis includes hypoxanthine- guanine phosphoribosyltransferase deficiency and psychomotor retardation due to S-adenosylhomocysteine hydrolase (AHCY) deficiency (see these terms). Antenatal diagnosis Carrier testing for at-risk relatives and prenatal testing in male fetuses are possible if the mutation has been identified in the family. Genetic counseling PRPP synthetase superactivity is an X-linked recessive disorder with complete penetrance. An affected mother has a 50% chance of transmitting the disease to any of her offspring; an affected father transmits the mutation only to his daughters. De novo PRSP1 mutations have also been reported. Management and treatment Treatment of uric acid overproduction with xanthine oxidase inhibitors like allopurinol or febuxostat successfully reverses or prevents the consequences of hyperuricemia and hyperuricosuria. A low-purine and low-fructose diet along with regular surveillance of serum urate concentration is essential. Alcalinisation of urine is recommended in order to avoid the formation of kidney stones. For patients with the severe form, regular audiometric and neurologic evaluations are also recommended. Prognosis The prognosis is uncertain in the severe form of the disease. Severe gout can lead to renal impairment, if not properly treated.

MalaCards based summary : Phosphoribosylpyrophosphate Synthetase Superactivity, also known as prps1 superactivity, is related to disorder of purine metabolism and gout. An important gene associated with Phosphoribosylpyrophosphate Synthetase Superactivity is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Pentose phosphate pathway and Purine metabolism. Affiliated tissues include kidney, eye and b lymphoblasts, and related phenotypes are ataxia and sensorineural hearing impairment

Disease Ontology : 12 An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has material basis in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.

MedlinePlus Genetics : 43 Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.There are two forms of PRS superactivity, a severe form that begins in infancy or early childhood, and a milder form that typically appears in late adolescence or early adulthood. In both forms, a kidney or bladder stone is often the first symptom. Gout and impairment of kidney function may develop if the condition is not adequately controlled with medication and dietary restrictions. People with the severe form may also have neurological problems, including hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.

OMIM® : 57 Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993). Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001). (300661) (Updated 05-Apr-2021)

KEGG : 36 Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout.

UniProtKB/Swiss-Prot : 72 Phosphoribosylpyrophosphate synthetase superactivity: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

GeneReviews: NBK1973

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

Diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 disorder of purine metabolism 30.5 HPRT1 APRT
2 gout 30.4 PRPS1 HPRT1 APRT ADSL
3 nephrolithiasis 30.1 HPRT1 GRHPR APRT
4 lesch-nyhan syndrome 29.8 PRPS1L1 PRPS1 HPRT1 APRT ADSL
5 arts syndrome 28.8 PRPS2 PRPS1L1 PRPS1 MSMB HPRT1 APRT
6 hyperuricemia 10.4
7 hypotonia 10.4
8 ataxia and polyneuropathy, adult-onset 10.2
9 branchiootic syndrome 1 10.2
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
11 sensorineural hearing loss 10.2
12 acute kidney failure 10.2
13 deafness, x-linked 3 10.1 PRPS1L1 PRPS1
14 deafness, x-linked 6 10.1 PRPS1L1 PRPS1
15 hyperuricemia, hprt-related 10.1 HPRT1 APRT
16 deafness, x-linked 4 10.1 PRPS1L1 PRPS1
17 deafness, x-linked 5, with peripheral neuropathy 10.1 PRPS1L1 PRPS1
18 brown-vialetto-van laere syndrome 10.1 PRPS1L1 PRPS1
19 charcot-marie-tooth disease, x-linked dominant, 6 10.0 PRPS2 PRPS1
20 deafness, x-linked 2 10.0 PRPS1L1 PRPS1
21 opitz-kaveggia syndrome 10.0 PRPS1L1 PRPS1
22 xanthinuria 10.0 GRHPR APRT
23 charcot-marie-tooth disease type 5 9.9 PRPS1L1 PRPS1 MSMB
24 nephrolithiasis, uric acid 9.9 PRPS1 HPRT1 GRHPR
25 charcot-marie-tooth disease type x 9.9 PRPS2 PRPS1L1 PRPS1
26 x-linked nonsyndromic deafness 9.9 PRPS2 PRPS1L1 PRPS1
27 urolithiasis 9.8 HPRT1 APRT
28 nephrolithiasis, calcium oxalate 9.8 GRHPR APRT
29 purine nucleoside phosphorylase deficiency 9.8 HPRT1 APRT ADSL
30 deafness, x-linked 1 9.7 PRPS2 PRPS1L1 PRPS1 MSMB
31 adenine phosphoribosyltransferase deficiency 9.5 HPRT1 GRHPR APRT ADSL
32 molybdenum cofactor deficiency, complementation group a 9.5 NT5C2 APRT ADSL
33 charcot-marie-tooth disease, x-linked recessive, 5 9.3 PRPS2 PRPS1L1 PRPS1 MSMB ADSL
34 purine-pyrimidine metabolic disorder 9.2 PRPS1L1 PRPS1 HPRT1 GRHPR APRT ADSL

Graphical network of the top 20 diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity:

Diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity

Symptoms & Phenotypes for Phosphoribosylpyrophosphate Synthetase Superactivity

Human phenotypes related to Phosphoribosylpyrophosphate Synthetase Superactivity:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001251
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Excluded (0%) HP:0000407
3 hyperuricemia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0002149
4 gout 58 31 hallmark (90%) Very frequent (99-80%) HP:0001997
5 hyperuricosuria 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003149
6 increased urinary urate 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0012611
7 uric acid nephrolithiasis 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000791
8 increased phosphoribosylpyrophosphate synthetase level 31 hallmark (90%) HP:0003240
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Excluded (0%) HP:0001249
10 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
11 arthritis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001369
12 renal insufficiency 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0000083
13 abnormal aortic morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001679
14 crystalluria 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0020074
15 hypotonia 31 frequent (33%) HP:0001252
16 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
17 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
18 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
19 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
20 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001919
21 motor polyneuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007178
22 stage 4 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0012626
23 global developmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001263
24 recurrent respiratory infections 58 31 very rare (1%) Very rare (<4-1%) HP:0002205
25 myopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000545
26 glaucoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000501
27 abnormality of the nervous system 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000707
28 abnormality of eye movement 58 Occasional (29-5%)
29 muscular hypotonia 58 Frequent (79-30%),Frequent (79-30%)
30 abnormal facial shape 58 Excluded (0%)
31 motor delay 31 HP:0001270
32 abnormality of the eye 58 Excluded (0%)
33 peripheral neuropathy 58 Occasional (29-5%),Excluded (0%)
34 generalized hypotonia 31 HP:0001290
35 neurodevelopmental abnormality 58 Very frequent (99-80%)
36 abnormality of skeletal muscles 58 Occasional (29-5%)
37 increased phosphoribosylpyrophosphate synthetase activity 58 Very frequent (99-80%),Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
increased activity of the prpp synthetase 1 enzyme

Genitourinary Kidneys:
uric acid urolithiasis
secondary renal insufficiency

Neurologic Central Nervous System:
neurodevelopmental impairment (early-onset form)
hypotonia (early-onset form)
locomotor delay (early-onset form)
mental retardation (early-onset form)
ataxia (early-onset form)

gouty arthritis

Head And Neck Ears:
sensorineural hearing loss (early-onset form)

Metabolic Features:
overproduction of uric acid and purines

Clinical features from OMIM®:

300661 (Updated 05-Apr-2021)

Drugs & Therapeutics for Phosphoribosylpyrophosphate Synthetase Superactivity

Search Clinical Trials , NIH Clinical Center for Phosphoribosylpyrophosphate Synthetase Superactivity

Cochrane evidence based reviews: phosphoribosylpyrophosphate synthetase superactivity

Genetic Tests for Phosphoribosylpyrophosphate Synthetase Superactivity

Genetic tests related to Phosphoribosylpyrophosphate Synthetase Superactivity:

# Genetic test Affiliating Genes
1 Phosphoribosylpyrophosphate Synthetase Superactivity 29 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

Kidney, Eye, B Lymphoblasts

Publications for Phosphoribosylpyrophosphate Synthetase Superactivity

Articles related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 45)
# Title Authors PMID Year
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. 57 61 6
7593598 1995
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. 61 57 6
8253776 1993
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. 6 57
6243137 1980
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. 6 57
171280 1975
Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. 25 57
2843048 1988
Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. 25 57
2423135 1986
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 57 61
22246954 2012
Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. 57 61
3017368 1986
Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. 57
8702702 1996
Distinct neurological syndrome in two brothers with hyperuricaemia. 57
1359249 1992
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. 25 61
1311306 1992
An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities. 57
6123809 1982
The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity. 57
6276287 1981
Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase. 57
203941 1978
Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man. Studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme. 57
191349 1977
Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase. 57
177888 1976
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. 57
4200723 1973
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. 57
4722859 1973
Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase. 57
4353654 1973
Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties. 57
4351826 1973
Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. 57
4347565 1973
Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. 57
4340256 1972
Hyperuricemia and neurologic deficits. A family study. 57
5436556 1970
A new disorder of purine metabolism with behavioral manifestations. 57
5782823 1969
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 25
20021999 2010
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). 25
17701900 2007
Arts syndrome is caused by loss-of-function mutations in PRPS1. 25
17701896 2007
Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. 25
16906475 2006
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 25
15024124 2004
Purine-rich foods, dairy and protein intake, and the risk of gout in men. 25
15014182 2004
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 25
12847698 2003
Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method. 25
8646809 1996
Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases. 25
3032938 1987
Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates. 25
6327865 1984
Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production. 25
4346548 1972
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. 61
30423175 2018
Phosphoribosylpyrophosphate Synthetase Superactivity 61
20301734 2008
Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC method. 61
7988045 1994
Gout, uric acid and purine metabolism in paediatric nephrology. 61
8439471 1993
Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. 61
1664177 1991
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. 61
2155755 1990
Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. 61
3014841 1986
Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines. 61
2414323 1985
Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment. 61
6326492 1984
Characterization of purine nucleotide metabolism in cultured fibroblasts with deficiency of hypoxanthine-guanine phosphoribosyltransferase and with superactivity of phosphoribosylpyrophosphate synthetase. 61
6258915 1980

Variations for Phosphoribosylpyrophosphate Synthetase Superactivity

ClinVar genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPS1 NM_001204402.1(PRPS1):c.-66G>C SNV Pathogenic 9929 rs137852541 GRCh37: X:106888423-106888423
GRCh38: X:107645193-107645193
2 PRPS1 NM_001204402.1(PRPS1):c.-82-5851G>C SNV Pathogenic 9930 rs137852542 GRCh37: X:106882556-106882556
GRCh38: X:107639326-107639326
3 PRPS1 NM_001204402.1(PRPS1):c.-82-4197C>A SNV Pathogenic 9931 rs137852543 GRCh37: X:106884210-106884210
GRCh38: X:107640980-107640980
4 PRPS1 NM_001204402.1(PRPS1):c.-44C>T SNV Pathogenic 9932 rs137852544 GRCh37: X:106888445-106888445
GRCh38: X:107645215-107645215
5 PRPS1 NM_001204402.1(PRPS1):c.-34C>G SNV Pathogenic 9933 rs137852545 GRCh37: X:106888455-106888455
GRCh38: X:107645225-107645225
6 PRPS1 NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) SNV Pathogenic 9928 rs137852540 GRCh37: X:106884166-106884166
GRCh38: X:107640936-107640936
7 PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) SNV Likely pathogenic 446163 rs1556300621 GRCh37: X:106888516-106888516
GRCh38: X:107645286-107645286
8 PRPS1 NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) SNV Likely pathogenic 807472 rs768454424 GRCh37: X:106885623-106885623
GRCh38: X:107642393-107642393
9 PRPS1 NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) SNV Likely pathogenic 804069 rs1602901832 GRCh37: X:106884184-106884184
GRCh38: X:107640954-107640954
10 PRPS1 NM_002764.3(PRPS1):c.*88C>T SNV Uncertain significance 367703 rs1057515726 GRCh37: X:106893350-106893350
GRCh38: X:107650120-107650120
11 PRPS1 NM_002764.3(PRPS1):c.*538G>T SNV Uncertain significance 367709 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
12 PRPS1 NM_002764.3(PRPS1):c.*389G>C SNV Uncertain significance 367707 rs5962870 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
13 PRPS1 NM_002764.3(PRPS1):c.*159G>A SNV Uncertain significance 367704 rs747334780 GRCh37: X:106893421-106893421
GRCh38: X:107650191-107650191
14 PRPS1 NM_002764.3(PRPS1):c.*938dup Duplication Uncertain significance 367712 rs1057515728 GRCh37: X:106894194-106894195
GRCh38: X:107650964-107650965
15 PRPS1 NM_002764.3(PRPS1):c.*166G>A SNV Uncertain significance 367705 rs371265973 GRCh37: X:106893428-106893428
GRCh38: X:107650198-107650198
16 PRPS1 NM_002764.3(PRPS1):c.*762G>T SNV Uncertain significance 367711 rs768310830 GRCh37: X:106894024-106894024
GRCh38: X:107650794-107650794
17 PRPS1 NM_002764.3(PRPS1):c.*538G>C SNV Uncertain significance 367708 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
18 PRPS1 NM_002764.4(PRPS1):c.*539G>T SNV Uncertain significance 912517 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
19 PRPS1 NM_002764.4(PRPS1):c.*608C>T SNV Uncertain significance 912518 GRCh37: X:106893870-106893870
GRCh38: X:107650640-107650640
20 PRPS1 NM_002764.4(PRPS1):c.*389G>A SNV Uncertain significance 913589 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
21 PRPS1 NM_002764.4(PRPS1):c.*726C>T SNV Uncertain significance 913628 GRCh37: X:106893988-106893988
GRCh38: X:107650758-107650758
22 PRPS1 NM_002764.4(PRPS1):c.*423T>A SNV Uncertain significance 913984 GRCh37: X:106893685-106893685
GRCh38: X:107650455-107650455
23 PRPS1 NM_002764.4(PRPS1):c.*508G>C SNV Uncertain significance 913985 GRCh37: X:106893770-106893770
GRCh38: X:107650540-107650540
24 PRPS1 NM_002764.4(PRPS1):c.*137C>T SNV Uncertain significance 915184 GRCh37: X:106893399-106893399
GRCh38: X:107650169-107650169
25 PRPS1 NM_002764.4(PRPS1):c.*539G>C SNV Uncertain significance 912516 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
26 PRPS1 NM_002764.3(PRPS1):c.444G>A (p.Glu148=) SNV Likely benign 367702 rs201285459 GRCh37: X:106885634-106885634
GRCh38: X:107642404-107642404
27 PRPS1 NM_002764.3(PRPS1):c.-153del Deletion Likely benign 367701 rs768856537 GRCh37: X:106871706-106871706
GRCh38: X:107628476-107628476
28 PRPS1 NM_002764.3(PRPS1):c.*725T>C SNV Benign 367710 rs183744100 GRCh37: X:106893987-106893987
GRCh38: X:107650757-107650757
29 PRPS1 NM_002764.4(PRPS1):c.*158C>T SNV Benign 912472 GRCh37: X:106893420-106893420
GRCh38: X:107650190-107650190
30 PRPS1 NM_002764.4(PRPS1):c.477C>T (p.Ile159=) SNV Benign 94083 rs61752962 GRCh37: X:106885667-106885667
GRCh38: X:107642437-107642437
31 PRPS1 NM_002764.3(PRPS1):c.*178G>A SNV Benign 367706 rs576933222 GRCh37: X:106893440-106893440
GRCh38: X:107650210-107650210
32 PRPS1 NM_002764.4(PRPS1):c.720C>T (p.Gly240=) SNV Benign 701064 rs746885792 GRCh37: X:106890851-106890851
GRCh38: X:107647621-107647621
33 PRPS1 NM_002764.4(PRPS1):c.456A>G (p.Leu152=) SNV Benign 164996 rs61735617 GRCh37: X:106885646-106885646
GRCh38: X:107642416-107642416
34 PRPS1 NM_002764.3(PRPS1):c.447G>A (p.Pro149=) SNV Benign 21323 rs80338730 GRCh37: X:106885637-106885637
GRCh38: X:107642407-107642407

UniProtKB/Swiss-Prot genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

# Symbol AA change Variation ID SNP ID
1 PRPS1 p.Asn114Ser VAR_004163 rs137852540
2 PRPS1 p.Asp183His VAR_004164 rs137852541
3 PRPS1 p.Asp52His VAR_016044 rs137852542
4 PRPS1 p.Leu129Ile VAR_016045 rs137852543
5 PRPS1 p.Ala190Val VAR_016046 rs137852544
6 PRPS1 p.His193Gln VAR_016047 rs137852545

Expression for Phosphoribosylpyrophosphate Synthetase Superactivity

Search GEO for disease gene expression data for Phosphoribosylpyrophosphate Synthetase Superactivity.

Pathways for Phosphoribosylpyrophosphate Synthetase Superactivity

Pathways related to Phosphoribosylpyrophosphate Synthetase Superactivity according to KEGG:

# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030
2 Purine metabolism hsa00230

Pathways related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
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7 11.02 PPAT ADSL
8 10.89 PRPS1 PPAT NT5C2 HPRT1

GO Terms for Phosphoribosylpyrophosphate Synthetase Superactivity

Cellular components related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.8 PRPS2 PRPS1L1 PRPS1

Biological processes related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.58 PPAT APRT
2 animal organ regeneration GO:0031100 9.57 PRPS2 PPAT
3 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.56 PPAT ADSL
4 purine-containing compound salvage GO:0043101 9.55 HPRT1 APRT
5 grooming behavior GO:0007625 9.54 HPRT1 APRT
6 nucleotide biosynthetic process GO:0009165 9.54 PRPS2 PRPS1L1 PRPS1
7 'de novo' IMP biosynthetic process GO:0006189 9.52 PPAT ADSL
8 purine ribonucleoside salvage GO:0006166 9.51 HPRT1 APRT
9 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.5 PRPS2 PRPS1L1 PRPS1
10 ribose phosphate metabolic process GO:0019693 9.49 PRPS2 PPAT
11 AMP biosynthetic process GO:0006167 9.48 PRPS2 ADSL
12 IMP metabolic process GO:0046040 9.46 NT5C2 HPRT1
13 ribonucleoside monophosphate biosynthetic process GO:0009156 9.46 PRPS2 PRPS1L1 PRPS1 ADSL
14 adenine metabolic process GO:0046083 9.43 HPRT1 APRT
15 cellular biosynthetic process GO:0044249 9.43 PRPS2 PRPS1L1 PRPS1
16 nucleoside metabolic process GO:0009116 9.43 PRPS2 PRPS1L1 PRPS1 PPAT HPRT1 APRT
17 adenine salvage GO:0006168 9.4 HPRT1 APRT
18 purine nucleotide biosynthetic process GO:0006164 9.1 PRPS2 PRPS1L1 PRPS1 PPAT HPRT1 ADSL

Molecular functions related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.83 PRPS2 PRPS1L1 PRPS1 NT5C2 HPRT1
2 identical protein binding GO:0042802 9.8 PRPS2 PRPS1 PPAT HPRT1 ADSL
3 transferase activity GO:0016740 9.73 PRPS2 PRPS1L1 PRPS1 PPAT HPRT1 APRT
4 protein homodimerization activity GO:0042803 9.62 PRPS2 PRPS1L1 PRPS1 GRHPR
5 transferase activity, transferring glycosyl groups GO:0016757 9.54 PPAT HPRT1 APRT
6 magnesium ion binding GO:0000287 9.26 PRPS2 PRPS1L1 PRPS1 HPRT1
7 AMP binding GO:0016208 9.16 PRPS2 APRT
8 ribose phosphate diphosphokinase activity GO:0004749 8.8 PRPS2 PRPS1L1 PRPS1

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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