MCID: PHS004
MIFTS: 46

Phosphoribosylpyrophosphate Synthetase Superactivity malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Rare diseases, Mental diseases categories
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Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Phosphoribosylpyrophosphate Synthetase Superactivity, also known as prps1 superactivity, is related to gout and hyperuricemia, and has symptoms including muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy, chronic arterial hypertension and cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block. An important gene associated with Phosphoribosylpyrophosphate Synthetase Superactivity is PRPS1 (phosphoribosyl pyrophosphate synthetase 1), and among its related pathways are Nucleotide Metabolism and Purine metabolism. The compounds n-methyl-n-nitrosourea and o6-benzylguanine have been mentioned in the context of this disorder. Affiliated tissues include heart and b lymphoblasts.

Description from OMIM:47 300661

GeneReviews summary for prs

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

phosphoribosylpyrophosphate synthetase superactivity 19 20 22 21 47 49 62
prps1 superactivity 19 21 49
prpp synthetase superactivity 21 49
gout, prps-related 21 47
prs superactivity 19 21
prs overactivity 19 21
prieto x-linked mental retardation syndrome 62
prpp synthetase overactivity 21


External Ids:

OMIM47 300661
ICD10 via Orphanet26 E79.8

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

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17GeneCards, 18GeneDecks
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Diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gout10.0HPRT1, PRPS1
2hyperuricemia10.0PRPS1, HPRT1
3lung cancer10.0HPRT1, PPAT
4deficiency anemia9.9HPRT1, PPAT
5lesch-nyhan syndrome9.9HPRT1, PRPS1, PPAT

Graphical network of diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity:



Diseases related to phosphoribosylpyrophosphate synthetase superactivity

Symptoms for Phosphoribosylpyrophosphate Synthetase Superactivity

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

300661

Clinical features from OMIM:

300661

Symptoms:

49 (show all 15)
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • chronic arterial hypertension
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • cardiomyopathy/hypertrophic/dilated
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • strabismus/squint
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • renal failure
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • x-linked recessive inheritance
  • hyperuricemia
  • ataxia/incoordination/trouble of the equilibrium
  • sensorineural deafness/hearing loss

Drugs & Therapeutics for Phosphoribosylpyrophosphate Synthetase Superactivity

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Phosphoribosylpyrophosphate Synthetase Superactivity

Search NIH Clinical Center for Phosphoribosylpyrophosphate Synthetase Superactivity

Genetic Tests for Phosphoribosylpyrophosphate Synthetase Superactivity

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20GeneTests, 22GTR
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Genetic tests related to Phosphoribosylpyrophosphate Synthetase Superactivity:

id Genetic test Affiliating Genes
1 Phosphoribosylpyrophosphate Synthetase Superactivity20 22 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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33MalaCards
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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

33
Heart, B lymphoblasts

Animal Models for Phosphoribosylpyrophosphate Synthetase Superactivity or affiliated genes

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Publications for Phosphoribosylpyrophosphate Synthetase Superactivity

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52PubMed
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Articles related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 11)
idTitleAuthorsYear
1
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. (22246954)
2012
2
The genetic and functional basis of purine nucleotide feedback- resistant phosphoribosylpyrophosphate synthetase superactivity. (7593598)
1995
3
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. (8253776)
1993
4
Phosphoribosylpyrophosphate Synthetase Superactivity (20301734)
1993
5
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. (1311306)
1992
6
Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (1664177)
1991
7
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. (2155755)
1990
8
Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. (3017368)
1986
9
Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. (3014841)
1986
10
Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines. (2414323)
1985
11
Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment. (6326492)
1984

Variations for Phosphoribosylpyrophosphate Synthetase Superactivity

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

64 (show all 12)
id Symbol AA change Variation ID SNP ID
1PRPS1p.Asn114SerVAR_004163
2PRPS1p.Asn114SerVAR_004163
3PRPS1p.Asp183HisVAR_004164
4PRPS1p.Asp183HisVAR_004164
5PRPS1p.Asp52HisVAR_016044
6PRPS1p.Asp52HisVAR_016044
7PRPS1p.Leu129IleVAR_016045
8PRPS1p.Leu129IleVAR_016045
9PRPS1p.Ala190ValVAR_016046
10PRPS1p.Ala190ValVAR_016046
11PRPS1p.His193GlnVAR_016047
12PRPS1p.His193GlnVAR_016047

Clinvar genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRPS1NM_002764.3(PRPS1): c.341A> G (p.Asn114Ser)single nucleotide variantPathogenicrs137852540GRCh37Chr X, 106884166: 106884166
2PRPS1NM_002764.3(PRPS1): c.547G> C (p.Asp183His)single nucleotide variantPathogenicrs137852541GRCh37Chr X, 106888423: 106888423
3PRPS1NM_002764.3(PRPS1): c.154G> C (p.Asp52His)single nucleotide variantPathogenicrs137852542GRCh37Chr X, 106882556: 106882556
4PRPS1NM_002764.3(PRPS1): c.385C> A (p.Leu129Ile)single nucleotide variantPathogenicrs137852543GRCh37Chr X, 106884210: 106884210
5PRPS1NM_002764.3(PRPS1): c.569C> T (p.Ala190Val)single nucleotide variantPathogenicrs137852544GRCh37Chr X, 106888445: 106888445
6PRPS1NM_002764.3(PRPS1): c.579C> G (p.His193Gln)single nucleotide variantPathogenicrs137852545GRCh37Chr X, 106888455: 106888455

Expression for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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

Pathways for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 60Thomson Reuters
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Pathways related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PRPS1, HPRT1
2
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.1HPRT1, PPAT
3
Show member pathways
guanosine nucleotides de novo biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
9.1HPRT1, PPAT
4
Show member pathways
8.5HPRT1, PRPS1, PPAT
5
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
8.5HPRT1, PRPS1, PPAT
6
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
8.5HPRT1, PRPS1, PPAT

Compounds for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-methyl-n-nitrosourea459.4HPRT1, PPAT
2o6-benzylguanine459.4HPRT1, PPAT
3o6-methylguanine459.3HPRT1, PPAT
4hypoxanthine45 24 1111.2HPRT1, PPAT
5Adenosine monophosphate24 1110.2HPRT1, PRPS1
6guanylate459.2PPAT, HPRT1
7guanine45 24 1111.1HPRT1, PPAT
8cisplatin45 51 61 1112.1HPRT1, PPAT
9glutamine458.8HPRT1, PPAT
10Phosphoribosyl pyrophosphate248.8HPRT1, PRPS1, PPAT
11prpp458.8PPAT, PRPS1, HPRT1
12uric acid45 249.8HPRT1, PRPS1, PPAT
13purine45 249.8PPAT, PRPS1, HPRT1
14phosphoric acid45 249.7HPRT1, PRPS1, PPAT
15pyrophosphate45 249.7PPAT, PRPS1, HPRT1
16magnesium45 24 1110.7HPRT1, PRPS1, PPAT

GO Terms for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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16Gene Ontology
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Cellular components related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5HPRT1, PRPS1, PPAT

Biological processes related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1organ regenerationGO:0311009.0PPAT, PRPS1
2protein homotetramerizationGO:0512899.0HPRT1, PPAT
3nucleobase-containing small molecule metabolic processGO:0550868.8HPRT1, PPAT
4purine nucleotide biosynthetic processGO:0061648.6HPRT1, PRPS1, PPAT
5purine nucleobase metabolic processGO:0061448.6HPRT1, PRPS1, PPAT
6small molecule metabolic processGO:0442818.5HPRT1, PRPS1, PPAT

Molecular functions related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.3HPRT1, PRPS1
2magnesium ion bindingGO:0002879.0HPRT1, PRPS1

Products for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet