MCID: HPR001
MIFTS: 14

Hprt-Related Gout malady

Neuronal, Nephrological, Metabolic, Blood categories

Summaries for Hprt-Related Gout

Sources:
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 and gout, hprt1-related. An important gene associated with Hprt-Related Gout is HPRT1 (hypoxanthine phosphoribosyltransferase 1).

Description from OMIM:47 300323

Aliases & Classifications for Hprt-Related Gout

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Nephrological, Metabolic, Blood


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 61
kelley-seegmiller syndrome 49
hprt-related hyperuricemia 49
hprt deficiency, grade i 49
hprt1 partial deficiency 49
hprt partial deficiency 49


External Ids:

OMIM47 300323
ICD10 via Orphanet26 E79.8

Related Diseases for Hprt-Related Gout

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
4n syndrome10.4

Clinical Features for Hprt-Related Gout

Sources:
47OMIM
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Clinical features from OMIM:

300323

Clinical synopsis from OMIM:

300323

Drugs & Therapeutics for Hprt-Related Gout

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Hprt-Related Gout

Animal Models for Hprt-Related Gout or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hprt-Related Gout

Genetic Variations for Hprt-Related Gout

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hprt-Related Gout:

63 (show all 22)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hprt-Related Gout

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

Pathways for genes affiliated with Hprt-Related Gout

Compounds for genes affiliated with Hprt-Related Gout

GO Terms for genes affiliated with Hprt-Related Gout

Products for genes affiliated with Hprt-Related Gout

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hprt-Related Gout

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet