MCID: PHS004
MIFTS: 46

Phosphoribosylpyrophosphate Synthetase Superactivity malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Rare diseases, Mental diseases categories

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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48OMIM, 20GeneReviews, 34MalaCards
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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:48 300661

GeneReviews summary for prs

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

phosphoribosylpyrophosphate synthetase superactivity 20 21 23 22 48 50 63
prps1 superactivity 20 22 50
prpp synthetase superactivity 22 50
gout, prps-related 22 48
prs superactivity 20 22
prs overactivity 20 22
prieto x-linked mental retardation syndrome 63
prpp synthetase overactivity 22


External Ids:

OMIM48 300661
ICD10 via Orphanet27 E79.8

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300661

Clinical features from OMIM:

300661

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Phosphoribosylpyrophosphate Synthetase Superactivity

Drug clinical trials:

Search ClinicalTrials for Phosphoribosylpyrophosphate Synthetase Superactivity

Search NIH Clinical Center for Phosphoribosylpyrophosphate Synthetase Superactivity

Search CenterWatch for Phosphoribosylpyrophosphate Synthetase Superactivity

Genetic Tests for Phosphoribosylpyrophosphate Synthetase Superactivity

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21GeneTests, 23GTR
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Genetic tests related to Phosphoribosylpyrophosphate Synthetase Superactivity:

id Genetic test Affiliating Genes
1 Phosphoribosylpyrophosphate Synthetase Superactivity21 23 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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34MalaCards
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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

34
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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

65 (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, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson 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 degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
9.1HPRT1, PPAT
3
Show member pathways
guanosine nucleotides de novo biosynthesis39
guanosine ribonucleotides de novo biosynthesis39
adenosine ribonucleotides de novo biosynthesis39
purine nucleotides de novo biosynthesis39
9.1HPRT1, PPAT
4
Show member pathways
8.5HPRT1, PRPS1, PPAT
5
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
8.5HPRT1, PRPS1, PPAT
6
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
8.5HPRT1, PRPS1, PPAT

Compounds for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-methyl-n-nitrosourea469.4HPRT1, PPAT
2o6-benzylguanine469.4HPRT1, PPAT
3o6-methylguanine469.3HPRT1, PPAT
4hypoxanthine46 25 1211.2HPRT1, PPAT
5Adenosine monophosphate25 1210.2HPRT1, PRPS1
6guanylate469.2PPAT, HPRT1
7guanine46 25 1211.1HPRT1, PPAT
8cisplatin46 52 62 1212.1HPRT1, PPAT
9glutamine468.8HPRT1, PPAT
10Phosphoribosyl pyrophosphate258.8HPRT1, PRPS1, PPAT
11prpp468.8PPAT, PRPS1, HPRT1
12uric acid46 259.8HPRT1, PRPS1, PPAT
13purine46 259.8PPAT, PRPS1, HPRT1
14phosphoric acid46 259.7HPRT1, PRPS1, PPAT
15pyrophosphate46 259.7PPAT, PRPS1, HPRT1
16magnesium46 25 1210.7HPRT1, PRPS1, PPAT

GO Terms for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet