MCID: PHS004
MIFTS: 48

Phosphoribosylpyrophosphate Synthetase Superactivity malady

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

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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OMIM:46 Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased... (300661) more...

MalaCards based summary: Phosphoribosylpyrophosphate Synthetase Superactivity, also known as prps1 superactivity, is related to mild phosphoribosylpyrophosphate synthetase superactivity and severe phosphoribosylpyrophosphate synthetase superactivity, and has symptoms including sensorineural hearing impairment, hyperuricemia and incoordination. 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.

Genetics Home Reference:22 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.

GeneReviews summary for prs

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Phosphoribosylpyrophosphate Synthetase Superactivity, Aliases & Descriptions:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 20 21 23 22 46 48 61
Prps1 Superactivity 20 22 48
Prpp Synthetase Superactivity 22 48
Gout, Prps-Related 22 46
 
Prs Superactivity 20 22
Prs Overactivity 20 22
Prieto X-Linked Mental Retardation Syndrome 61
Prpp Synthetase Overactivity 22


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 300661
ICD10 via Orphanet27 E79.8

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

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Diseases in the Phosphoribosylpyrophosphate Synthetase Superactivity family:

Severe Phosphoribosylpyrophosphate Synthetase Superactivity

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

idRelated DiseaseScoreTop Affiliating Genes
1mild phosphoribosylpyrophosphate synthetase superactivity10.6
2severe phosphoribosylpyrophosphate synthetase superactivity10.6
3gout10.0HPRT1, PRPS1
4hyperuricemia9.9HPRT1, PRPS1
5lung cancer9.9HPRT1, PPAT
6deficiency anemia9.8HPRT1, PPAT
7lesch-nyhan syndrome9.6HPRT1, PPAT, PRPS1

Graphical network of diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity:



Diseases related to phosphoribosylpyrophosphate synthetase superactivity

Symptoms for Phosphoribosylpyrophosphate Synthetase Superactivity

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Symptoms by clinical synopsis from OMIM:

300661

Clinical features from OMIM:

300661

Symptoms:

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

HPO human phenotypes related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 24)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 hyperuricemia hallmark (90%) HP:0002149
3 incoordination hallmark (90%) HP:0002311
4 renal insufficiency typical (50%) HP:0000083
5 muscular hypotonia typical (50%) HP:0001252
6 abnormality of the aorta typical (50%) HP:0001679
7 neurological speech impairment typical (50%) HP:0002167
8 cognitive impairment typical (50%) HP:0100543
9 strabismus occasional (7.5%) HP:0000486
10 ophthalmoparesis occasional (7.5%) HP:0000597
11 hypertension occasional (7.5%) HP:0000822
12 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
13 amyotrophy occasional (7.5%) HP:0003202
14 arrhythmia occasional (7.5%) HP:0011675
15 renal insufficiency HP:0000083
16 sensorineural hearing impairment HP:0000407
17 uric acid nephrolithiasis HP:0000791
18 intellectual disability HP:0001249
19 ataxia HP:0001251
20 muscular hypotonia HP:0001252
21 motor delay HP:0001270
22 x-linked recessive inheritance HP:0001419
23 gout HP:0001997
24 hyperuricosuria HP:0003149

Drugs & Therapeutics for Phosphoribosylpyrophosphate Synthetase Superactivity

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

63
id Symbol AA change Variation ID SNP ID
1PRPS1p.Asn114SerVAR_004163
2PRPS1p.Asp183HisVAR_004164
3PRPS1p.Asp52HisVAR_016044
4PRPS1p.Leu129IleVAR_016045
5PRPS1p.Ala190ValVAR_016046
6PRPS1p.His193GlnVAR_016047

Clinvar genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

7
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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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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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 degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.1HPRT1, PPAT
3
Show member pathways
guanosine nucleotides de novo biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.1HPRT1, PPAT
4
Show member pathways
8.5HPRT1, PRPS1, PPAT
5
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism59
8.5HPRT1, PRPS1, PPAT
6
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism59
purine deoxyribonucleosides salvage37
8.5HPRT1, PRPS1, PPAT

Compounds for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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Compounds related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-methyl-n-nitrosourea449.4HPRT1, PPAT
2o6-benzylguanine449.4HPRT1, PPAT
3o6-methylguanine449.3HPRT1, PPAT
4hypoxanthine44 25 1211.2HPRT1, PPAT
5Adenosine monophosphate25 1210.2HPRT1, PRPS1
6guanylate449.2PPAT, HPRT1
7guanine44 25 1211.1HPRT1, PPAT
8cisplatin44 50 60 1212.1HPRT1, PPAT
9glutamine448.8HPRT1, PPAT
10Phosphoribosyl pyrophosphate258.8HPRT1, PRPS1, PPAT
11prpp448.8PPAT, PRPS1, HPRT1
12uric acid44 259.8HPRT1, PRPS1, PPAT
13purine44 259.8PPAT, PRPS1, HPRT1
14phosphoric acid44 259.7HPRT1, PRPS1, PPAT
15pyrophosphate44 259.7PPAT, PRPS1, HPRT1
16magnesium44 25 1210.7HPRT1, PRPS1, PPAT

GO Terms for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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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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  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet