MCID: HPR001
MIFTS: 20

Hprt-Related Gout malady

Genetic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Rare diseases categories
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Summaries for Hprt-Related Gout

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47OMIM, 33MalaCards
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MalaCards: Hprt-Related Gout, also known as hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, is related to lesch-nyhan syndrome. An important gene associated with Hprt-Related Gout is HPRT1 (hypoxanthine phosphoribosyltransferase 1).

Description from OMIM:47 300323

Aliases & Classifications for Hprt-Related Gout

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Sources:
47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hprt-related gout:
Inheritance: X-linked recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hprt-related gout 47 49
hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency 49
hypoxanthine guanine phosphoribosyltransferase deficiency, grade i 49
hypoxanthine guanine phosphoribosyltransferase partial deficiency 49
partial hypoxanthine-guanine phosphoribosyltransferase deficiency 62
hprt-related hyperuricemia 49
kelley-seegmiller syndrome 49
hprt deficiency, grade i 49
hprt1 partial deficiency 49
hprt partial deficiency 49


External Ids:

SNOMED-CT via Orphanet59 238007004
OMIM47 300323
ICD10 via Orphanet26 E79.8

Related Diseases for Hprt-Related Gout

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17GeneCards, 18GeneDecks
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Diseases related to Hprt-Related Gout via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lesch-nyhan syndrome10.6

Symptoms for Hprt-Related Gout

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47OMIM
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Symptoms by clinical synopsis from OMIM:

300323

Clinical features from OMIM:

300323

Drugs & Therapeutics for Hprt-Related Gout

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hprt-Related Gout

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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hprt-Related Gout:

64 (show all 22)
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

Clinvar genetic disease variations for Hprt-Related Gout:

1 (show all 16)
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
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 variantPathogenic, otherrs137852499GRCh37Chr X, 133607407: 133607407
11HPRT1NM_000194.2(HPRT1): c.172G> A (p.Gly58Arg)single nucleotide variantPathogenic, otherrs137852500GRCh37Chr X, 133609248: 133609248
12HPRT1NM_000194.2(HPRT1): c.232C> G (p.Leu78Val)single nucleotide variantPathogenic, otherrs137852501GRCh37Chr X, 133609308: 133609308
13HPRT1NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly)single nucleotide variantPathogenic, otherrs137852502GRCh37Chr X, 133609231: 133609231
14HPRT1NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu)single nucleotide variantPathogenic, otherrs137852504GRCh37Chr 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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hprt-Related Gout

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Pathways for genes affiliated with Hprt-Related Gout

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Compounds for genes affiliated with Hprt-Related Gout

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GO Terms for genes affiliated with Hprt-Related Gout

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Products for genes affiliated with Hprt-Related Gout

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hprt-Related Gout

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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