MCID: PHS004
MIFTS: 42

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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Aliases & Descriptions for Phosphoribosylpyrophosphate Synthetase Superactivity:

Name: Phosphoribosylpyrophosphate Synthetase Superactivity 49 21 22 23 51 24 65 67
Prps1 Superactivity 21 22 23 51 67
Gout, Prps-Related 49 11 23
Prs Superactivity 21 22 23
 
Prs Overactivity 21 22 23
Prpp Synthetase Superactivity 23 51
Prpp Synthetase Overactivity 23
Prps-Related Gout 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
phosphoribosylpyrophosphate synthetase superactivity:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy


External Ids:

OMIM49 300661
Orphanet51 3222
ICD10 via Orphanet28 E79.8

Summaries for Phosphoribosylpyrophosphate Synthetase Superactivity

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OMIM:49 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 Carbon metabolism and Purine metabolism. Affiliated tissues include kidney, skeletal muscle and heart.

Genetics Home Reference:23 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:67 Phosphoribosylpyrophosphate synthetase superactivity: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

GeneReviews summary for prs

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

Symptoms:

 51 (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 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 x-linked recessive inheritance HP:0001419
23 gout HP:0001997
24 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 Superactivity22 24 PRPS1

Anatomical Context for Phosphoribosylpyrophosphate Synthetase Superactivity

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MalaCards organs/tissues related to Phosphoribosylpyrophosphate Synthetase Superactivity:

33
Kidney, Skeletal muscle, 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:

67
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
1
Show member pathways
9.3PPAT, PRPS1
2
Show member pathways
9.1HPRT1, PPAT
3
Show member pathways
9.1HPRT1, PPAT
49.0HPRT1, PRPS1
5
Pyrimidine metabolism (KEGG)
Show member pathways
8.5HPRT1, PRPS1
6
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:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ribose phosphate metabolic processGO:001969310.0PPAT, PRPS1
2nucleoside metabolic processGO:00091169.7HPRT1, PPAT
3organ regenerationGO:00311009.6PPAT, PRPS1
4protein homotetramerizationGO:00512899.1HPRT1, PPAT
5purine nucleotide biosynthetic processGO:00061649.1HPRT1, PPAT, PRPS1
6nucleobase-containing small molecule metabolic processGO:00550869.0HPRT1, PPAT
7purine nucleobase metabolic processGO:00061448.9HPRT1, PPAT, PRPS1
8small molecule metabolic processGO:00442818.5HPRT1, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet