MCID: HPR001
MIFTS: 32

Hprt-Related Gout malady

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

Aliases & Classifications for Hprt-Related Gout

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Aliases & Descriptions for Hprt-Related Gout:

Name: Hprt-Related Gout 50 52 68 12
Kelley-Seegmiller Syndrome 50 52 68
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency 52 25
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency 52
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I 52
Hprt-Related Hyperuricemia 52
Hprt Deficiency, Grade I 52
 
Hprt1 Partial Deficiency 52
Hprt Deficiency, Partial 48
Hprt Partial Deficiency 52
Gout, Hprt-Related 66
Gout Hprt-Related 68
Gout-Hprt 68

Characteristics:

Orphanet epidemiological data:

52
hprt-related gout:
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
hprt-related gout:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300323
Orphanet52 ORPHA79233
ICD10 via Orphanet29 E79.8
MedGen35 C0268117

Summaries for Hprt-Related Gout

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OMIM:50 Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322),... (300323) more...

MalaCards based summary: Hprt-Related Gout, also known as kelley-seegmiller syndrome, is related to gout, hprt1-related and lesch-nyhan syndrome, and has symptoms including renal insufficiency, nephrolithiasis and podagra. An important gene associated with Hprt-Related Gout is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are Pyrimidine metabolism (KEGG) and Purine metabolism.

UniProtKB/Swiss-Prot:68 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.

Related Diseases for Hprt-Related Gout

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Diseases in the Gout family:

hprt-related gout Gout, Hprt1-Related

Diseases related to Hprt-Related Gout via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gout, hprt1-related11.3
2lesch-nyhan syndrome10.4
3dent disease 29.6APRT, HPRT1
4congenital disorder of glycosylation, type iia9.6APRT, HPRT1
5plasma cell neoplasm9.5APRT, HPRT1
6combined oxidative phosphorylation deficiency 69.5APRT, HPRT1
7meier-gorlin syndrome 49.4APRT, HPRT1
8van maldergem syndrome9.2APRT, HPRT1

Graphical network of diseases related to Hprt-Related Gout:



Diseases related to hprt-related gout

Symptoms for Hprt-Related Gout

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Symptoms by clinical synopsis from OMIM:

300323

Clinical features from OMIM:

300323

HPO human phenotypes related to Hprt-Related Gout:

id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 nephrolithiasis HP:0000787
3 podagra HP:0001854
4 hyperuricosuria HP:0003149

Drugs & Therapeutics for Hprt-Related Gout

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hprt-Related Gout

Genetic Tests for Hprt-Related Gout

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Genetic tests related to Hprt-Related Gout:

id Genetic test Affiliating Genes
1 Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency25

Anatomical Context for Hprt-Related Gout

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Animal Models for Hprt-Related Gout or affiliated genes

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Publications for Hprt-Related Gout

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Variations for Hprt-Related Gout

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UniProtKB/Swiss-Prot genetic disease variations for Hprt-Related Gout:

68 (show all 27)
id Symbol AA change Variation ID SNP ID
1HPRT1p.Gly7AspVAR_006750
2HPRT1p.Gly16SerVAR_006753rs137852499
3HPRT1p.Asp20ValVAR_006754
4HPRT1p.Cys23TrpVAR_006755
5HPRT1p.Arg48HisVAR_006761rs387906725
6HPRT1p.Arg51GlyVAR_006764rs137852494
7HPRT1p.Val53AlaVAR_006767
8HPRT1p.Val53MetVAR_006768
9HPRT1p.Gly58ArgVAR_006771rs137852500
10HPRT1p.Leu78ValVAR_006776rs137852501
11HPRT1p.Asp80ValVAR_006777rs137852478
12HPRT1p.Ser104ArgVAR_006778rs137852485
13HPRT1p.Ser110LeuVAR_006779rs137852482
14HPRT1p.Ile132MetVAR_006782rs137852477
15HPRT1p.Asp135GlyVAR_006784
16HPRT1p.Ala161SerVAR_006787rs137852484
17HPRT1p.Thr168IleVAR_006789rs137852498
18HPRT1p.Ile183ThrVAR_006796
19HPRT1p.Asp194GluVAR_006797rs137852504
20HPRT1p.Tyr195CysVAR_006799
21HPRT1p.Asp201GlyVAR_006801rs137852479
22HPRT1p.Asp201AsnVAR_006802
23HPRT1p.Cys23PheVAR_071610
24HPRT1p.His60ArgVAR_071612
25HPRT1p.Thr124ProVAR_071618
26HPRT1p.Asp185GlyVAR_071622
27HPRT1p.Ala192ValVAR_071623

Clinvar genetic disease variations for Hprt-Related Gout:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1NM_000194.2(HPRT1): c.396T> G (p.Ile132Met)single nucleotide variantPathogenicrs137852477GRCh37Chr X, 133624229: 133624229
2HPRT1NM_000194.2(HPRT1): c.239A> T (p.Asp80Val)single nucleotide variantPathogenicrs137852478GRCh37Chr X, 133609315: 133609315
3HPRT1NM_000194.2(HPRT1): c.602A> G (p.Asp201Gly)single nucleotide variantPathogenicrs137852479GRCh37Chr X, 133632707: 133632707
4HPRT1NM_000194.2(HPRT1): c.329C> T (p.Ser110Leu)single nucleotide variantPathogenicrs137852482GRCh37Chr X, 133620505: 133620505
5HPRT1NM_000194.2(HPRT1): c.481G> T (p.Ala161Ser)single nucleotide variantPathogenicrs137852484GRCh37Chr X, 133627616: 133627616
6HPRT1NM_000194.2(HPRT1): c.312C> A (p.Ser104Arg)single nucleotide variantPathogenicrs137852485GRCh37Chr X, 133609388: 133609388
7HPRT1NM_000194.2(HPRT1): c.151C> G (p.Arg51Gly)single nucleotide variantPathogenicrs137852494GRCh37Chr X, 133609227: 133609227
8HPRT1HPRT, 13-BP DEL, 5-PRIME UTRdeletionPathogenic
9HPRT1NM_000194.2(HPRT1): c.503C> T (p.Thr168Ile)single nucleotide variantPathogenicrs137852498GRCh37Chr X, 133632437: 133632437
10HPRT1NM_000194.2(HPRT1): c.46G> A (p.Gly16Ser)single nucleotide variantPathogenicrs137852499GRCh37Chr X, 133607407: 133607407
11HPRT1NM_000194.2(HPRT1): c.172G> A (p.Gly58Arg)single nucleotide variantPathogenicrs137852500GRCh37Chr X, 133609248: 133609248
12HPRT1NM_000194.2(HPRT1): c.232C> G (p.Leu78Val)single nucleotide variantPathogenicrs137852501GRCh37Chr X, 133609308: 133609308
13HPRT1NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly)single nucleotide variantPathogenicrs137852502GRCh37Chr X, 133609231: 133609231
14HPRT1NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu)single nucleotide variantPathogenicrs137852504GRCh37Chr X, 133632687: 133632687
15HPRT1NM_000194.2(HPRT1): c.193C> T (p.Leu65Phe)single nucleotide variantPathogenicrs137852506GRCh37Chr X, 133609269: 133609269
16HPRT1NM_000194.2(HPRT1): c.143G> A (p.Arg48His)single nucleotide variantPathogenicrs387906725GRCh37Chr X, 133609219: 133609219

Expression for genes affiliated with Hprt-Related Gout

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Search GEO for disease gene expression data for Hprt-Related Gout.

Pathways for genes affiliated with Hprt-Related Gout

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GO Terms for genes affiliated with Hprt-Related Gout

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Biological processes related to Hprt-Related Gout according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:00460839.4APRT, HPRT1
2adenine salvageGO:00061689.4APRT, HPRT1
3purine ribonucleoside salvageGO:00061669.4APRT, HPRT1
4grooming behaviorGO:00076259.1APRT, HPRT1
5purine-containing compound salvageGO:00431019.0APRT, HPRT1

Sources for Hprt-Related Gout

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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