MCID: HPR001
MIFTS: 25

Hprt-Related Gout malady

Neuronal diseases, Nephrological diseases, Metabolic diseases, Blood diseases categories

Summaries for Hprt-Related Gout

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46OMIM, 32MalaCards
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MalaCards: Hprt-Related Gout, also known as hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, is related to lesch-nyhan syndrome and gout, hprt1-related. An important gene associated with Hprt-Related Gout is HPRT1 (hypoxanthine phosphoribosyltransferase 1).

Description from OMIM:46 300323

Aliases & Classifications for Hprt-Related Gout

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Sources:
46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hprt-related gout:
Inheritance: X-linked recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hprt-related gout 46 48
hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency 48
hypoxanthine guanine phosphoribosyltransferase deficiency, grade i 48
hypoxanthine guanine phosphoribosyltransferase partial deficiency 48
partial hypoxanthine-guanine phosphoribosyltransferase deficiency 60
hprt-related hyperuricemia 48
kelley-seegmiller syndrome 48
hprt deficiency, grade i 48
hprt1 partial deficiency 48
hprt partial deficiency 48


External Ids:

SNOMED-CT via Orphanet57 238007004
OMIM46 300323
ICD10 via Orphanet26 E79.8

Related Diseases for Hprt-Related Gout

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Sources:
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 syndrome10.5
2gout, hprt1-related10.5
3protoporphyria, erythropoietic, x-linked10.5

Clinical Features for Hprt-Related Gout

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Sources:
46OMIM
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Clinical features from OMIM:

300323

Clinical synopsis from OMIM:

300323

Drugs & Therapeutics for Hprt-Related Gout

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hprt-Related Gout

Drug clinical trials:

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Search NIH Clinical Center for Hprt-Related Gout

Search CenterWatch for Hprt-Related Gout

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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Genetic Variations for Hprt-Related Gout

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hprt-Related Gout:

62 (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

Expression for genes affiliated with Hprt-Related Gout

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet