MCID: HPR001
MIFTS: 32

Hprt-Related Gout

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases, Blood diseases, Rare diseases, Bone diseases

Aliases & Classifications for Hprt-Related Gout

MalaCards integrated aliases for Hprt-Related Gout:

Name: Hprt-Related Gout 54 56 71 13
Kelley-Seegmiller Syndrome 56 71
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency 56
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I 56
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency 56
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 29
Hprt-Related Hyperuricemia 56
Hprt Deficiency, Grade I 56
Hprt1 Partial Deficiency 56
Hprt Deficiency, Partial 52
Hprt Partial Deficiency 56
Gout, Hprt-Related 69
Gout Hprt-Related 71
Gout-Hprt 71

Characteristics:

Orphanet epidemiological data:

56
hypoxanthine guanine phosphoribosyltransferase partial deficiency
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)


HPO:

32
hprt-related gout:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300323
Orphanet 56 ORPHA79233
UMLS via Orphanet 70 C0268117
ICD10 via Orphanet 34 E79.8
MedGen 40 C0268117
SNOMED-CT via HPO 65 236423003 42399005 67148009

Summaries for Hprt-Related Gout

OMIM : 54
Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000). (300323)

MalaCards based summary : Hprt-Related Gout, also known as kelley-seegmiller syndrome, is related to lesch-nyhan syndrome and gout, hprt1-related, and has symptoms including nephrolithiasis, renal insufficiency and hyperuricosuria. An important gene associated with Hprt-Related Gout is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways is purine nucleotides de novo biosynthesis.

UniProtKB/Swiss-Prot : 71 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.

Related Diseases for Hprt-Related Gout

Diseases in the Gout family:

Hprt-Related Gout Gout, Hprt1-Related

Diseases related to Hprt-Related Gout via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 lesch-nyhan syndrome 11.5
2 gout, hprt1-related 11.2
3 cowchock syndrome 9.7 APRT HPRT1
4 congenital disorder of glycosylation, type iia 9.6 APRT HPRT1
5 overnutrition 9.6 APRT HPRT1
6 hyperammonemia due to carbonic anhydrase va deficiency 9.5 APRT HPRT1
7 lingual goiter 9.5 APRT HPRT1
8 combined oxidative phosphorylation deficiency 6 9.4 APRT HPRT1
9 van maldergem syndrome 9.2 APRT HPRT1

Graphical network of the top 20 diseases related to Hprt-Related Gout:



Diseases related to Hprt-Related Gout

Symptoms & Phenotypes for Hprt-Related Gout

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
nephrolithiasis
renal failure

Laboratory- Abnormalities:
hyperuricemia
hyperuricosuria

Skeletal- Feet:
gout


Clinical features from OMIM:

300323

Human phenotypes related to Hprt-Related Gout:

32
id Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 HP:0000787
2 renal insufficiency 32 HP:0000083
3 hyperuricosuria 32 HP:0003149
4 podagra 32 HP:0001854

Drugs & Therapeutics for Hprt-Related Gout

Search Clinical Trials , NIH Clinical Center for Hprt-Related Gout

Genetic Tests for Hprt-Related Gout

Genetic tests related to Hprt-Related Gout:

id Genetic test Affiliating Genes
1 Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 29

Anatomical Context for Hprt-Related Gout

Publications for Hprt-Related Gout

Variations for Hprt-Related Gout

UniProtKB/Swiss-Prot genetic disease variations for Hprt-Related Gout:

71 (show all 27)
id Symbol AA change Variation ID SNP ID
1 HPRT1 p.Gly7Asp VAR_006750
2 HPRT1 p.Gly16Ser VAR_006753 rs137852499
3 HPRT1 p.Asp20Val VAR_006754
4 HPRT1 p.Cys23Trp VAR_006755
5 HPRT1 p.Arg48His VAR_006761 rs387906725
6 HPRT1 p.Arg51Gly VAR_006764 rs137852494
7 HPRT1 p.Val53Ala VAR_006767
8 HPRT1 p.Val53Met VAR_006768
9 HPRT1 p.Gly58Arg VAR_006771 rs137852500
10 HPRT1 p.Leu78Val VAR_006776 rs137852501
11 HPRT1 p.Asp80Val VAR_006777 rs137852478
12 HPRT1 p.Ser104Arg VAR_006778 rs137852485
13 HPRT1 p.Ser110Leu VAR_006779 rs137852482
14 HPRT1 p.Ile132Met VAR_006782 rs137852477
15 HPRT1 p.Asp135Gly VAR_006784
16 HPRT1 p.Ala161Ser VAR_006787 rs137852484
17 HPRT1 p.Thr168Ile VAR_006789 rs137852498
18 HPRT1 p.Ile183Thr VAR_006796
19 HPRT1 p.Asp194Glu VAR_006797 rs137852504
20 HPRT1 p.Tyr195Cys VAR_006799
21 HPRT1 p.Asp201Gly VAR_006801 rs137852479
22 HPRT1 p.Asp201Asn VAR_006802
23 HPRT1 p.Cys23Phe VAR_071610
24 HPRT1 p.His60Arg VAR_071612
25 HPRT1 p.Thr124Pro VAR_071618
26 HPRT1 p.Asp185Gly VAR_071622
27 HPRT1 p.Ala192Val VAR_071623

ClinVar genetic disease variations for Hprt-Related Gout:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 HPRT1 NM_000194.2(HPRT1): c.396T> G (p.Ile132Met) single nucleotide variant Pathogenic rs137852477 GRCh37 Chromosome X, 133624229: 133624229
2 HPRT1 NM_000194.2(HPRT1): c.239A> T (p.Asp80Val) single nucleotide variant Pathogenic rs137852478 GRCh37 Chromosome X, 133609315: 133609315
3 HPRT1 NM_000194.2(HPRT1): c.602A> G (p.Asp201Gly) single nucleotide variant Pathogenic rs137852479 GRCh37 Chromosome X, 133632707: 133632707
4 HPRT1 NM_000194.2(HPRT1): c.329C> T (p.Ser110Leu) single nucleotide variant Pathogenic rs137852482 GRCh37 Chromosome X, 133620505: 133620505
5 HPRT1 NM_000194.2(HPRT1): c.481G> T (p.Ala161Ser) single nucleotide variant Pathogenic rs137852484 GRCh37 Chromosome X, 133627616: 133627616
6 HPRT1 NM_000194.2(HPRT1): c.312C> A (p.Ser104Arg) single nucleotide variant Pathogenic rs137852485 GRCh37 Chromosome X, 133609388: 133609388
7 HPRT1 NM_000194.2(HPRT1): c.151C> G (p.Arg51Gly) single nucleotide variant Pathogenic rs137852494 GRCh37 Chromosome X, 133609227: 133609227
8 HPRT1 HPRT, 13-BP DEL, 5-PRIME UTR deletion Pathogenic
9 HPRT1 NM_000194.2(HPRT1): c.503C> T (p.Thr168Ile) single nucleotide variant Pathogenic rs137852498 GRCh37 Chromosome X, 133632437: 133632437
10 HPRT1 NM_000194.2(HPRT1): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic rs137852499 GRCh37 Chromosome X, 133607407: 133607407
11 HPRT1 NM_000194.2(HPRT1): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs137852500 GRCh37 Chromosome X, 133609248: 133609248
12 HPRT1 NM_000194.2(HPRT1): c.232C> G (p.Leu78Val) single nucleotide variant Pathogenic rs137852501 GRCh37 Chromosome X, 133609308: 133609308
13 HPRT1 NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly) single nucleotide variant Pathogenic rs137852502 GRCh37 Chromosome X, 133609231: 133609231
14 HPRT1 NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu) single nucleotide variant Pathogenic rs137852504 GRCh37 Chromosome X, 133632687: 133632687
15 HPRT1 NM_000194.2(HPRT1): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs137852506 GRCh37 Chromosome X, 133609269: 133609269
16 HPRT1 NM_000194.2(HPRT1): c.143G> A (p.Arg48His) single nucleotide variant Pathogenic rs387906725 GRCh37 Chromosome X, 133609219: 133609219

Expression for Hprt-Related Gout

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

Pathways for Hprt-Related Gout

Pathways related to Hprt-Related Gout according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.73 APRT HPRT1

GO Terms for Hprt-Related Gout

Biological processes related to Hprt-Related Gout according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.37 APRT HPRT1
2 grooming behavior GO:0007625 9.32 APRT HPRT1
3 purine-containing compound salvage GO:0043101 9.26 APRT HPRT1
4 purine ribonucleoside salvage GO:0006166 9.16 APRT HPRT1
5 adenine metabolic process GO:0046083 8.96 APRT HPRT1
6 adenine salvage GO:0006168 8.62 APRT HPRT1

Molecular functions related to Hprt-Related Gout according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.62 APRT HPRT1

Sources for Hprt-Related Gout

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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