PRPS1 SUPERACTIVITY
MCID: PHS004
MIFTS: 37

Phosphoribosylpyrophosphate Synthetase Superactivity (PRPS1 SUPERACTIVITY) malady

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

Aliases & Classifications for Phosphoribosylpyrophosphate Synthetase Superactivity

Aliases & Descriptions for Phosphoribosylpyrophosphate Synthetase Superactivity:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 54 23 24 25 56 66 29 69
Prps1 Superactivity 24 25 56 66
Gout, Prps-Related 54 25 13
Prpp Synthetase Superactivity 25 56
Prs Superactivity 24 25
Prs Overactivity 24 25
Prpp Synthetase Overactivity 25
Prps-Related Gout 66

Characteristics:

Orphanet epidemiological data:

56
phosphoribosylpyrophosphate synthetase superactivity
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

GeneReviews:

23
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance is complete in hemizygous males...

Classifications:



External Ids:

OMIM 54 300661
Orphanet 56 ORPHA3222
ICD10 via Orphanet 34 E79.8

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

OMIM : 54 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 ataxia, intellectual disability and muscular hypotonia. An important gene associated with Phosphoribosylpyrophosphate Synthetase Superactivity is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Purine metabolism (KEGG) and Purine metabolism (REACTOME). Affiliated tissues include kidney and b lymphoblasts.

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.

UniProtKB/Swiss-Prot : 66 Phosphoribosylpyrophosphate synthetase superactivity: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

GeneReviews: NBK1973

Related Diseases for Phosphoribosylpyrophosphate Synthetase Superactivity

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:

id Related Disease Score Top Affiliating Genes
1 mild phosphoribosylpyrophosphate synthetase superactivity 12.2
2 severe phosphoribosylpyrophosphate synthetase superactivity 12.2
3 noonan syndrome 9 9.8 HPRT1 PRPS1
4 posterior foramen magnum meningioma 9.8 HPRT1 PPAT
5 lingual goiter 9.8 HPRT1 PRPS1
6 epileptic encephalopathy, early infantile, 8 9.7 HPRT1 PRPS1
7 arts syndrome 9.6 HPRT1 PPAT PRPS1

Graphical network of the top 20 diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity:



Diseases related to Phosphoribosylpyrophosphate Synthetase Superactivity

Symptoms & Phenotypes for Phosphoribosylpyrophosphate Synthetase Superactivity

Symptoms by clinical synopsis from OMIM:

300661

Clinical features from OMIM:

300661

Human phenotypes related to Phosphoribosylpyrophosphate Synthetase Superactivity:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 sensorineural hearing impairment 32 HP:0000407
5 renal insufficiency 32 HP:0000083
6 gout 32 HP:0001997
7 motor delay 32 HP:0001270
8 hyperuricosuria 32 HP:0003149
9 uric acid nephrolithiasis 32 HP:0000791

Drugs & Therapeutics for Phosphoribosylpyrophosphate Synthetase Superactivity

Search Clinical Trials , NIH Clinical Center for Phosphoribosylpyrophosphate Synthetase Superactivity

Genetic Tests for Phosphoribosylpyrophosphate Synthetase Superactivity

Genetic tests related to Phosphoribosylpyrophosphate Synthetase Superactivity:

id Genetic test Affiliating Genes
1 Phosphoribosylpyrophosphate Synthetase Superactivity 29 24 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

39
Kidney, B Lymphoblasts

Publications for Phosphoribosylpyrophosphate Synthetase Superactivity

Articles related to Phosphoribosylpyrophosphate Synthetase Superactivity:

(show all 11)
id Title Authors Year
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
Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. ( 3014841 )
1986
9
Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. ( 3017368 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 PRPS1 p.Asn114Ser VAR_004163 rs137852540
2 PRPS1 p.Asp183His VAR_004164 rs137852541
3 PRPS1 p.Asp52His VAR_016044 rs137852542
4 PRPS1 p.Leu129Ile VAR_016045 rs137852543
5 PRPS1 p.Ala190Val VAR_016046 rs137852544
6 PRPS1 p.His193Gln VAR_016047 rs137852545

ClinVar genetic disease variations for Phosphoribosylpyrophosphate Synthetase Superactivity:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRPS1 NM_002764.3(PRPS1): c.341A> G (p.Asn114Ser) single nucleotide variant Pathogenic rs137852540 GRCh37 Chromosome X, 106884166: 106884166
2 PRPS1 NM_002764.3(PRPS1): c.547G> C (p.Asp183His) single nucleotide variant Pathogenic rs137852541 GRCh37 Chromosome X, 106888423: 106888423
3 PRPS1 NM_002764.3(PRPS1): c.154G> C (p.Asp52His) single nucleotide variant Pathogenic rs137852542 GRCh37 Chromosome X, 106882556: 106882556
4 PRPS1 NM_002764.3(PRPS1): c.385C> A (p.Leu129Ile) single nucleotide variant Pathogenic rs137852543 GRCh37 Chromosome X, 106884210: 106884210
5 PRPS1 NM_002764.3(PRPS1): c.569C> T (p.Ala190Val) single nucleotide variant Pathogenic rs137852544 GRCh37 Chromosome X, 106888445: 106888445
6 PRPS1 NM_002764.3(PRPS1): c.579C> G (p.His193Gln) single nucleotide variant Pathogenic rs137852545 GRCh37 Chromosome X, 106888455: 106888455

Expression for Phosphoribosylpyrophosphate Synthetase Superactivity

Search GEO for disease gene expression data for Phosphoribosylpyrophosphate Synthetase Superactivity.

Pathways for Phosphoribosylpyrophosphate Synthetase Superactivity

Pathways related to Phosphoribosylpyrophosphate Synthetase Superactivity according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 HPRT1 PPAT PRPS1
2
Show member pathways
11.66 HPRT1 PPAT
3
Show member pathways
11.37 HPRT1 PPAT
4 10.23 HPRT1 PRPS1
5 10.23 HPRT1 PPAT PRPS1

GO Terms for Phosphoribosylpyrophosphate Synthetase Superactivity

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

id Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.32 HPRT1 PPAT
2 animal organ regeneration GO:0031100 9.26 PPAT PRPS1
3 ribose phosphate metabolic process GO:0019693 9.16 PPAT PRPS1
4 nucleoside metabolic process GO:0009116 9.13 HPRT1 PPAT PRPS1
5 purine nucleotide biosynthetic process GO:0006164 8.8 HPRT1 PPAT PRPS1

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.33 HPRT1 PPAT PRPS1
2 transferase activity, transferring glycosyl groups GO:0016757 8.96 HPRT1 PPAT
3 magnesium ion binding GO:0000287 8.62 HPRT1 PRPS1

Sources for Phosphoribosylpyrophosphate Synthetase Superactivity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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