MCID: GTH001

Gout, Hprt1-Related malady

Genetic diseases (common), Bone diseases categories
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Summaries for Gout, Hprt1-Related

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33MalaCards
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MalaCards: Gout, Hprt1-Related, is also known as partial hypoxanthine-guanine phosphoribosyltransferase deficiency An important gene associated with Gout, Hprt1-Related is HPRT1 (hypoxanthine phosphoribosyltransferase 1).

Aliases & Classifications for Gout, Hprt1-Related

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20GeneTests, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


Aliases & Descriptions:

gout, hprt1-related 20
partial hypoxanthine-guanine phosphoribosyltransferase deficiency 62


Related Diseases for Gout, Hprt1-Related

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Diseases in the Gout family:

gout, hprt1-related

Symptoms for Gout, Hprt1-Related

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Drugs & Therapeutics for Gout, Hprt1-Related

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Gout, Hprt1-Related

Genetic Tests for Gout, Hprt1-Related

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20GeneTests
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Genetic tests related to Gout, Hprt1-Related:

id Genetic test Affiliating Genes
1 Gout, Hprt1-Related20 HPRT1

Anatomical Context for Gout, Hprt1-Related

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Animal Models for Gout, Hprt1-Related or affiliated genes

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Publications for Gout, Hprt1-Related

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Variations for Gout, Hprt1-Related

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gout, Hprt1-Related:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1HPRT1NM_000194.2(HPRT1): c.396T> G (p.Ile132Met)single nucleotide variantPathogenic, otherrs137852477GRCh37Chr X, 133624229: 133624229
2HPRT1NM_000194.2(HPRT1): c.239A> T (p.Asp80Val)single nucleotide variantPathogenic, otherrs137852478GRCh37Chr X, 133609315: 133609315
3HPRT1NM_000194.2(HPRT1): c.602A> G (p.Asp201Gly)single nucleotide variantPathogenic, otherrs137852479GRCh37Chr X, 133632707: 133632707
4HPRT1NM_000194.2(HPRT1): c.329C> T (p.Ser110Leu)single nucleotide variantPathogenic, otherrs137852482GRCh37Chr X, 133620505: 133620505
5HPRT1NM_000194.2(HPRT1): c.481G> T (p.Ala161Ser)single nucleotide variantPathogenic, otherrs137852484GRCh37Chr X, 133627616: 133627616
6HPRT1NM_000194.2(HPRT1): c.312C> A (p.Ser104Arg)single nucleotide variantPathogenic, otherrs137852485GRCh37Chr X, 133609388: 133609388
7HPRT1NM_000194.2(HPRT1): c.151C> G (p.Arg51Gly)single nucleotide variantPathogenic, otherrs137852494GRCh37Chr X, 133609227: 133609227
8HPRT1NM_000194.2(HPRT1): c.503C> T (p.Thr168Ile)single nucleotide variantPathogenicrs137852498GRCh37Chr X, 133632437: 133632437
9HPRT1NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly)single nucleotide variantPathogenic, otherrs137852502GRCh37Chr X, 133609231: 133609231
10HPRT1NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu)single nucleotide variantPathogenic, otherrs137852504GRCh37Chr X, 133632687: 133632687
11HPRT1NM_000194.2(HPRT1): c.143G> A (p.Arg48His)single nucleotide variantPathogenicrs387906725GRCh37Chr X, 133609219: 133609219

Expression for genes affiliated with Gout, Hprt1-Related

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gout, Hprt1-Related

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Pathways for genes affiliated with Gout, Hprt1-Related

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Compounds for genes affiliated with Gout, Hprt1-Related

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GO Terms for genes affiliated with Gout, Hprt1-Related

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Products for genes affiliated with Gout, Hprt1-Related

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gout, Hprt1-Related

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet