MCID: HPR001
MIFTS: 25

Hprt-Related Gout malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Hprt-Related Gout

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Aliases & Descriptions for Hprt-Related Gout:

Name: Hprt-Related Gout 49 11 67
Kelley-Seegmiller Syndrome 67
Hprt Deficiency, Partial 47
 
Gout, Hprt-Related 65
Gout Hprt-Related 67
Gout-Hprt 67

Characteristics:

HPO:

61
hprt-related gout:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300323
MedGen34 C0268117
UMLS65 C0268117

Summaries for Hprt-Related Gout

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OMIM:49 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 hypoxanthine guanine phosphoribosyltransferase partial deficiency and combined oxidative phosphorylation deficiency 6, and has symptoms including hyperuricosuria, gout (feet) and nephrolithiasis. An important gene associated with Hprt-Related Gout is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are and Purine metabolism. Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.

Related Diseases for Hprt-Related Gout

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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 hyperuricosuria HP:0003149
2 gout (feet) HP:0001854
3 nephrolithiasis HP:0000787
4 renal insufficiency HP:0000083

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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Anatomical Context for Hprt-Related Gout

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MalaCards organs/tissues related to Hprt-Related Gout:

33
Bone

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:

67 (show all 27)
id Symbol AA change Variation ID SNP ID
1HPRT1p.Gly7AspVAR_006750
2HPRT1p.Gly16SerVAR_006753
3HPRT1p.Asp20ValVAR_006754
4HPRT1p.Cys23TrpVAR_006755
5HPRT1p.Arg48HisVAR_006761
6HPRT1p.Arg51GlyVAR_006764
7HPRT1p.Val53AlaVAR_006767
8HPRT1p.Val53MetVAR_006768
9HPRT1p.Gly58ArgVAR_006771
10HPRT1p.Leu78ValVAR_006776
11HPRT1p.Asp80ValVAR_006777
12HPRT1p.Ser104ArgVAR_006778
13HPRT1p.Ser110LeuVAR_006779
14HPRT1p.Ile132MetVAR_006782
15HPRT1p.Asp135GlyVAR_006784
16HPRT1p.Ala161SerVAR_006787
17HPRT1p.Thr168IleVAR_006789
18HPRT1p.Ile183ThrVAR_006796
19HPRT1p.Asp194GluVAR_006797
20HPRT1p.Tyr195CysVAR_006799
21HPRT1p.Asp201GlyVAR_006801
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:00460839.7APRT, HPRT1
2nucleobase-containing small molecule metabolic processGO:00550869.5APRT, HPRT1
3purine nucleobase metabolic processGO:00061449.5APRT, HPRT1
4small molecule metabolic processGO:00442819.1APRT, HPRT1

Sources for Hprt-Related Gout

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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