MCID: PHS004
MIFTS: 43

Phosphoribosylpyrophosphate Synthetase Superactivity malady

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

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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Sources:
46OMIM, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 22GTR, 61UMLS, 9diseasecard, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Phosphoribosylpyrophosphate Synthetase Superactivity:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 46 19 20 21 48 22 61
Prps1 Superactivity 19 21 48
Gout, Prps-Related 46 9 21
Prpp Synthetase Superactivity 21 48
 
Prs Superactivity 19 21
Prs Overactivity 19 21
Prpp Synthetase Overactivity 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy


External Ids:

OMIM46 300661
Orphanet48 3222
ICD10 via Orphanet26 E79.8

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: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.

GeneReviews summary for prs

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mild phosphoribosylpyrophosphate synthetase superactivity10.7
2severe phosphoribosylpyrophosphate synthetase superactivity10.7
3gout10.0HPRT1, PRPS1
4hyperuricemia9.9PRPS1, HPRT1
5lung cancer9.9HPRT1, PPAT
6deficiency anemia9.7HPRT1, PPAT
7lesch-nyhan syndrome9.6HPRT1, 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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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 Superactivity20 22 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

31
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:

5
id Gene Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PRPS1, HPRT1
2
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.1HPRT1, PPAT
3
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
9.1HPRT1, PPAT
4
Show member pathways
8.5HPRT1, PRPS1, PPAT
5
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism59
8.5HPRT1, PRPS1, PPAT
6
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism59
purine deoxyribonucleosides salvage36
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 Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-methyl-n-nitrosourea449.4HPRT1, PPAT
2o6-benzylguanine449.4HPRT1, PPAT
3o6-methylguanine449.3HPRT1, PPAT
4hypoxanthine44 24 1111.2HPRT1, PPAT
5Adenosine monophosphate24 1110.2HPRT1, PRPS1
6guanylate449.2PPAT, HPRT1
7guanine44 24 1111.1HPRT1, PPAT
8cisplatin44 50 60 1112.1HPRT1, PPAT
9glutamine448.8HPRT1, PPAT
10Phosphoribosyl pyrophosphate248.8HPRT1, PRPS1, PPAT
11prpp448.8PPAT, PRPS1, HPRT1
12uric acid44 249.8HPRT1, PRPS1, PPAT
13purine44 249.8PPAT, PRPS1, HPRT1
14phosphoric acid44 249.7HPRT1, PRPS1, PPAT
15pyrophosphate44 249.7PPAT, PRPS1, HPRT1
16magnesium44 24 1110.7HPRT1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5HPRT1, PRPS1, PPAT

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

idNameGO IDScoreTop Affiliating Genes
1organ regenerationGO:00311009.0PPAT, PRPS1
2protein homotetramerizationGO:00512899.0HPRT1, PPAT
3nucleobase-containing small molecule metabolic processGO:00550868.8HPRT1, PPAT
4purine nucleotide biosynthetic processGO:00061648.6HPRT1, PRPS1, PPAT
5purine nucleobase metabolic processGO:00061448.6HPRT1, PRPS1, PPAT
6small molecule metabolic processGO:00442818.5HPRT1, PRPS1, PPAT

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.3HPRT1, PRPS1
2magnesium ion bindingGO:00002879.0HPRT1, PRPS1

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet