MCID: PHS004
MIFTS: 38

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 52 23 24 25 54 70 27 68
Prps1 Superactivity 24 25 54 70
Gout, Prps-Related 52 25 12
Prpp Synthetase Superactivity 25 54
 
Prs Superactivity 24 25
Prs Overactivity 24 25
Prpp Synthetase Overactivity 25
Prps-Related Gout 70

Characteristics:

Orphanet epidemiological data:

54
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

64
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: x-linked recessive inheritance

GeneReviews:

23
Penetrance: penetrance is complete in hemizygous males...


Classifications:



External Ids:

OMIM52 300661
Orphanet54 ORPHA3222
ICD10 via Orphanet31 E79.8

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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OMIM:52 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 Nucleotide Metabolism. Affiliated tissues include kidney, skeletal muscle and b lymphoblasts.

UniProtKB/Swiss-Prot:70 Phosphoribosylpyrophosphate synthetase superactivity: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

Genetics Home Reference:25 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 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 & Phenotypes for Phosphoribosylpyrophosphate Synthetase Superactivity

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Symptoms by clinical synopsis from OMIM:

300661

Clinical features from OMIM:

300661

Human phenotypes related to Phosphoribosylpyrophosphate Synthetase Superactivity:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 hallmark (90%) HP:0000407
2 hyperuricemia64 hallmark (90%) HP:0002149
3 incoordination64 hallmark (90%) HP:0002311
4 renal insufficiency64 typical (50%) HP:0000083
5 muscular hypotonia64 typical (50%) HP:0001252
6 abnormality of the aorta64 typical (50%) HP:0001679
7 neurological speech impairment64 typical (50%) HP:0002167
8 cognitive impairment64 typical (50%) HP:0100543
9 strabismus64 occasional (7.5%) HP:0000486
10 ophthalmoparesis64 occasional (7.5%) HP:0000597
11 hypertension64 occasional (7.5%) HP:0000822
12 hypertrophic cardiomyopathy64 occasional (7.5%) HP:0001639
13 skeletal muscle atrophy64 occasional (7.5%) HP:0003202
14 arrhythmia64 occasional (7.5%) HP:0011675
15 uric acid nephrolithiasis64 HP:0000791
16 intellectual disability64 HP:0001249
17 ataxia64 HP:0001251
18 motor delay64 HP:0001270
19 gout64 HP:0001997
20 hyperuricosuria64 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 Superactivity27 24 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

36
Kidney, Skeletal muscle, B lymphoblasts

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:

70
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)SNVPathogenicrs137852540GRCh37Chr X, 106884166: 106884166
2PRPS1NM_002764.3(PRPS1): c.547G> C (p.Asp183His)SNVPathogenicrs137852541GRCh37Chr X, 106888423: 106888423
3PRPS1NM_002764.3(PRPS1): c.154G> C (p.Asp52His)SNVPathogenicrs137852542GRCh37Chr X, 106882556: 106882556
4PRPS1NM_002764.3(PRPS1): c.385C> A (p.Leu129Ile)SNVPathogenicrs137852543GRCh37Chr X, 106884210: 106884210
5PRPS1NM_002764.3(PRPS1): c.569C> T (p.Ala190Val)SNVPathogenicrs137852544GRCh37Chr X, 106888445: 106888445
6PRPS1NM_002764.3(PRPS1): c.579C> G (p.His193Gln)SNVPathogenicrs137852545GRCh37Chr 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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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
1animal organ regenerationGO:00311009.8PPAT, PRPS1
2protein homotetramerizationGO:00512899.5HPRT1, PPAT
3ribose phosphate metabolic processGO:00196939.3PPAT, PRPS1
4purine nucleotide biosynthetic processGO:00061648.5HPRT1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet