MCID: PHS004
MIFTS: 50

Phosphoribosylpyrophosphate Synthetase Superactivity malady

Neuronal diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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 prieto x-linked mental retardation syndrome and intellectual deficit, x-linked - dysmorphism - cerebral atrophy, 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 kidney, heart and b lymphoblasts.

Description from OMIM:46 300661

GeneReviews summary for prs

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

phosphoribosylpyrophosphate synthetase superactivity 19 20 22 21 46 48 60
prps1 superactivity 19 21
gout, prps-related 21 46
prs superactivity 19 21
prs overactivity 19 21
prieto x-linked mental retardation syndrome 60
prpp synthetase superactivity 21
prpp synthetase overactivity 21


External Ids:

OMIM46 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
1prieto x-linked mental retardation syndrome10.7
2intellectual deficit, x-linked - dysmorphism - cerebral atrophy10.4
3adenine phosphoribosyltransferase deficiency10.4
4purine nucleoside phosphorylase deficiency10.0HPRT1
5gout10.0HPRT1, PRPS1
6hyperuricemia10.0HPRT1, PRPS1
7lesch-nyhan syndrome10.0HPRT1, PRPS1, PPAT

Graphical network of diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity:



Diseases related to phosphoribosylpyrophosphate synthetase superactivity

Clinical Features for Phosphoribosylpyrophosphate Synthetase Superactivity

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300661

Clinical synopsis from OMIM:

300661

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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32MalaCards
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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

32
Kidney, 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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50PubMed
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Articles related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 12)
idTitleAuthorsYear
1
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. (22246954)
2012
2
Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. (8702702)
1996
3
The genetic and functional basis of purine nucleotide feedback- resistant phosphoribosylpyrophosphate synthetase superactivity. (7593598)
1995
4
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. (8253776)
1993
5
Phosphoribosylpyrophosphate Synthetase Superactivity (20301734)
1993
6
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. (1311306)
1992
7
Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (1664177)
1991
8
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. (2155755)
1990
9
Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. (3017368)
1986
10
Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. (3014841)
1986
11
Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines. (2414323)
1985
12
Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment. (6326492)
1984

Genetic Variations for Phosphoribosylpyrophosphate Synthetase Superactivity

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

62 (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

Expression for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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1BioGPS, 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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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 49PharmGKB, 12EMD Millipore
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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
Hide members
9.1HPRT1, PPAT
3
Hide members
8.5HPRT1, PRPS1, PPAT
4
Hide members
8.5HPRT1, PRPS1, PPAT
5
Hide members
8.5HPRT1, PRPS1, PPAT

Compounds for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1n-methyl-n-nitrosourea449.4HPRT1, PPAT
2o6-benzylguanine449.4HPRT1, PPAT
3o6-methylguanine449.3HPRT1, PPAT
4hypoxanthine44 11 2411.2HPRT1, PPAT
5Adenosine monophosphate11 2410.2HPRT1, PRPS1
6guanylate449.2PPAT, HPRT1
7guanine44 11 2411.1HPRT1, PPAT
8cisplatin44 49 59 1112.1HPRT1, PPAT
9glutamine448.8HPRT1, PPAT
10prpp448.8HPRT1, PRPS1, PPAT
11uric acid44 249.8HPRT1, PRPS1, PPAT
12purine44 249.8PPAT, PRPS1, HPRT1
13phosphoric acid44 249.7HPRT1, PRPS1, PPAT
14pyrophosphate44 249.7PPAT, PRPS1, HPRT1
15magnesium44 11 2410.7HPRT1, 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
1protein homotetramerizationGO:0512899.0PPAT, HPRT1
2nucleobase-containing small molecule metabolic processGO:0550868.8HPRT1, PPAT
3purine nucleotide biosynthetic processGO:0061648.6HPRT1, PRPS1, PPAT
4purine nucleobase metabolic processGO:0061448.5HPRT1, PRPS1, PPAT
5small molecule metabolic processGO:0442818.5HPRT1, PRPS1, PPAT

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

idNameGO IDScoreTop Affiliating Genes
1magnesium ion bindingGO:0002879.3HPRT1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet