MCID: PHS004
MIFTS: 39

Phosphoribosylpyrophosphate Synthetase Superactivity malady

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

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Aliases & Descriptions for Phosphoribosylpyrophosphate Synthetase Superactivity:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 50 22 23 24 52 68 25 66
Prps1 Superactivity 23 24 52 68
Gout, Prps-Related 50 24 12
Prpp Synthetase Superactivity 24 52
 
Prs Superactivity 23 24
Prs Overactivity 23 24
Prpp Synthetase Overactivity 24
Prps-Related Gout 68

Characteristics:

Orphanet epidemiological data:

52
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

62
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300661
Orphanet52 ORPHA3222
ICD10 via Orphanet29 E79.8

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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OMIM:50 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 purine nucleotides de novo biosynthesis and Purine metabolism. Affiliated tissues include kidney, skeletal muscle and b lymphoblasts.

Genetics Home Reference:24 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.

UniProtKB/Swiss-Prot:68 Phosphoribosylpyrophosphate synthetase superactivity: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

GeneReviews summary for NBK1973

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

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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

HPO human phenotypes related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 23)
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 skeletal muscle atrophy 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 gout HP:0001997
23 hyperuricosuria HP:0003149

Drugs & Therapeutics for Phosphoribosylpyrophosphate Synthetase Superactivity

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Interventional clinical trials:

Search ClinicalTrials, 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 Superactivity25 23 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

34
Kidney, Skeletal muscle, 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
Phosphoribosylpyrophosphate Synthetase Superactivity (20301734)
1993
4
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. (8253776)
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:

68
id Symbol AA change Variation ID SNP ID
1PRPS1p.Asn114SerVAR_004163rs137852540
2PRPS1p.Asp183HisVAR_004164rs137852541
3PRPS1p.Asp52HisVAR_016044rs137852542
4PRPS1p.Leu129IleVAR_016045rs137852543
5PRPS1p.Ala190ValVAR_016046rs137852544
6PRPS1p.His193GlnVAR_016047rs137852545

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1HPRT1, PPAT
2
Show member pathways
9.1HPRT1, PPAT
39.0HPRT1, PRPS1
4
Show member pathways
8.5HPRT1, PPAT, PRPS1
5
Show member pathways
8.5HPRT1, PPAT, PRPS1

GO Terms for genes affiliated with Phosphoribosylpyrophosphate Synthetase Superactivity

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

idNameGO IDScoreTop Affiliating Genes
1ribose phosphate metabolic processGO:00196939.8PPAT, PRPS1
2animal organ regenerationGO:00311009.3PPAT, PRPS1
3protein homotetramerizationGO:00512899.1HPRT1, PPAT
4purine nucleotide biosynthetic processGO:00061649.0HPRT1, PPAT, PRPS1

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

idNameGO IDScoreTop Affiliating Genes
1magnesium ion bindingGO:00002879.0HPRT1, PRPS1

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet