HRH
MCID: HYP870
MIFTS: 42

Hyperuricemia, Hprt-Related (HRH)

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

Aliases & Classifications for Hyperuricemia, Hprt-Related

MalaCards integrated aliases for Hyperuricemia, Hprt-Related:

Name: Hyperuricemia, Hprt-Related 57
Kelley-Seegmiller Syndrome 57 12 58 72 39
Hprt-Related Gout 12 58 72 13
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency 12 58
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I 12 58
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency 12 58
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 29 6
Hprt-Related Hyperuricemia 12 58
Hprt Deficiency, Partial 57 54
Hprt Deficiency, Grade I 12 58
Hprt1 Partial Deficiency 12 58
Hprt Partial Deficiency 12 58
Gout, Hprt-Related 57 70
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial 57
Hyperuricemia, Hrpt-Related 57
Hrpt-Related Hyperuricemia 12
Hprt1 Deficiency, Partial 57
Gout Hprt-Related 72
Gout-Hprt 72
Hrh 57

Characteristics:

Orphanet epidemiological data:

58
hypoxanthine guanine phosphoribosyltransferase partial deficiency
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

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


HPO:

31
hyperuricemia, hprt-related:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Hyperuricemia, Hprt-Related

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Hyperuricemia, Hprt-Related, also known as kelley-seegmiller syndrome, is related to lesch-nyhan syndrome and gout. An important gene associated with Hyperuricemia, Hprt-Related is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism of nucleotides and purine nucleotides de novo biosynthesis. Affiliated tissues include kidney, and related phenotypes are intellectual disability and nephropathy

Disease Ontology : 12 A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has material basis in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3.

UniProtKB/Swiss-Prot : 72 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.

Related Diseases for Hyperuricemia, Hprt-Related

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



Diseases related to Hyperuricemia, Hprt-Related

Symptoms & Phenotypes for Hyperuricemia, Hprt-Related

Human phenotypes related to Hyperuricemia, Hprt-Related:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
3 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
4 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
5 increased urinary urate 58 31 frequent (33%) Frequent (79-30%) HP:0012611
6 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
7 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
9 gout 58 31 occasional (7.5%) Occasional (29-5%) HP:0001997
10 dysuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100518
11 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
12 elevated serum creatinine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003259
13 macroscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012587
14 uric acid nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000791
15 seizure 31 occasional (7.5%) HP:0001250
16 renal insufficiency 58 31 Occasional (29-5%) HP:0000083
17 seizures 58 Occasional (29-5%)
18 nephrolithiasis 31 HP:0000787
19 abnormality of the nervous system 58 Occasional (29-5%)
20 self-mutilation 58 Excluded (0%)
21 hyperuricosuria 31 HP:0003149
22 podagra 31 HP:0001854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hyperuricemia
hyperuricosuria

Skeletal Feet:
gout

Genitourinary Kidneys:
nephrolithiasis
renal failure

Clinical features from OMIM®:

300323 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyperuricemia, Hprt-Related

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

Genetic Tests for Hyperuricemia, Hprt-Related

Genetic tests related to Hyperuricemia, Hprt-Related:

# Genetic test Affiliating Genes
1 Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 29 HPRT1

Anatomical Context for Hyperuricemia, Hprt-Related

MalaCards organs/tissues related to Hyperuricemia, Hprt-Related:

40
Kidney

Publications for Hyperuricemia, Hprt-Related

Articles related to Hyperuricemia, Hprt-Related:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. 57 6
11891689 2002
2
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). 57 6
2896620 1988
3
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. 57 54 61
10657589 2000
4
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 6 54
17027311 2007
5
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. 54 6
1301916 1992
6
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). 6 54
2246854 1990
7
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. 57
31182398 2019
8
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 6
28045594 2017
9
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. 6
25481104 2015
10
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. 6
23975452 2014
11
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients. 6
25136576 2014
12
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation. 6
22999896 2013
13
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. 6
22157001 2012
14
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 6
22132984 2011
15
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. 6
20981450 2011
16
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations. 6
19016344 2008
17
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients. 6
17454734 2007
18
Delineation of the motor disorder of Lesch-Nyhan disease. 6
16549399 2006
19
The spectrum of mutations causing HPRT deficiency: an update. 6
15571220 2004
20
Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome. 6
15386453 2004
21
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. 6
15505382 2004
22
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. 6
11018746 2000
23
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. 6
10737990 2000
24
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome. 6
9799086 1998
25
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. 6
9288634 1997
26
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. 6
7987318 1994
27
The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction. 6
1551676 1992
28
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. 6
1937471 1991
29
Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene. 6
1934271 1991
30
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. 6
2071157 1991
31
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 6
2347587 1990
32
[Urine osmotic pressure and deficiency-excess syndrome of renal disease: analysis of 428 cases]. 6
2397545 1990
33
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. 6
2738157 1989
34
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. 6
2928313 1989
35
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). 57
2909537 1989
36
Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. 6
3358423 1988
37
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). 6
3384338 1988
38
Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure. 57
3600927 1987
39
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout. 6
6706936 1984
40
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout. 6
6204922 1984
41
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. 6
6309910 1983
42
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. 57
5009592 1972
43
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. 57
4322125 1971
44
A specific enzyme defect in gout associated with overproduction of uric acid. 57
4291947 1967
45
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]. 54 61
18409516 2008
46
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion. 61 54
17129743 2007
47
Partial HPRT deficiency (Kelley-Seegmiller syndrome). 61 54
16649740 2006
48
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder. 61 54
16245252 2005
49
Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille). 61 54
15334740 2004
50
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. 54 61
12508781 2002

Variations for Hyperuricemia, Hprt-Related

ClinVar genetic disease variations for Hyperuricemia, Hprt-Related:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPRT1 NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) SNV Pathogenic 10029 rs137852477 GRCh37: X:133624229-133624229
GRCh38: X:134490199-134490199
2 HPRT1 NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) SNV Pathogenic 10030 rs137852478 GRCh37: X:133609315-133609315
GRCh38: X:134475285-134475285
3 HPRT1 NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) SNV Pathogenic 10031 rs137852479 GRCh37: X:133632707-133632707
GRCh38: X:134498677-134498677
4 HPRT1 NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) SNV Pathogenic 10038 rs137852482 GRCh37: X:133620505-133620505
GRCh38: X:134486475-134486475
5 HPRT1 NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) SNV Pathogenic 10041 rs137852484 GRCh37: X:133627616-133627616
GRCh38: X:134493586-134493586
6 HPRT1 NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) SNV Pathogenic 10042 rs137852485 GRCh37: X:133609388-133609388
GRCh38: X:134475358-134475358
7 HPRT1 NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) SNV Pathogenic 10059 rs137852494 GRCh37: X:133609227-133609227
GRCh38: X:134475197-134475197
8 HPRT1 HPRT, 13-BP DEL, 5-PRIME UTR Deletion Pathogenic 10064 GRCh37:
GRCh38:
9 HPRT1 NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) SNV Pathogenic 10073 rs137852498 GRCh37: X:133632437-133632437
GRCh38: X:134498407-134498407
10 HPRT1 NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) SNV Pathogenic 10074 rs137852499 GRCh37: X:133607407-133607407
GRCh38: X:134473377-134473377
11 HPRT1 NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) SNV Pathogenic 10075 rs137852500 GRCh37: X:133609248-133609248
GRCh38: X:134475218-134475218
12 HPRT1 NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) SNV Pathogenic 10076 rs137852501 GRCh37: X:133609308-133609308
GRCh38: X:134475278-134475278
13 HPRT1 NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) SNV Pathogenic 10079 rs137852502 GRCh37: X:133609231-133609231
GRCh38: X:134475201-134475201
14 HPRT1 NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) SNV Pathogenic 10081 rs137852504 GRCh37: X:133632687-133632687
GRCh38: X:134498657-134498657
15 HPRT1 NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) SNV Pathogenic 10084 rs137852506 GRCh37: X:133609269-133609269
GRCh38: X:134475239-134475239
16 HPRT1 NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) SNV Pathogenic 10046 rs137852489 GRCh37: X:133620501-133620501
GRCh38: X:134486471-134486471
17 HPRT1 and overlap with 1 gene(s) NC_000023.11:g.(?_134460292)_(134500097_?)del Deletion Pathogenic 526798 GRCh37: X:133594322-133634127
GRCh38: X:134460292-134500097
18 HPRT1 NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) SNV Pathogenic 582293 rs369065223 GRCh37: X:133620544-133620544
GRCh38: X:134486514-134486514
19 HPRT1 NC_000023.11:g.(?_134473339)_(134500097_?)del Deletion Pathogenic 643153 GRCh37: X:133607369-133634127
GRCh38: X:134473339-134500097
20 HPRT1 NM_000194.3(HPRT1):c.319-2A>G SNV Pathogenic 645956 rs1602745376 GRCh37: X:133620493-133620493
GRCh38: X:134486463-134486463
21 HPRT1 , LOC107032760 NC_000023.11:g.(?_134460292)_(134460385_?)del Deletion Pathogenic 662833 GRCh37: X:133594322-133594415
GRCh38: X:134460292-134460385
22 HPRT1 NC_000023.11:g.(?_134500010)_(134500097_?)del Deletion Pathogenic 830749 GRCh37: X:133634040-133634127
GRCh38:
23 HPRT1 , LOC107032760 NM_000194.3(HPRT1):c.22_27+28del Deletion Pathogenic 842633 GRCh37: X:133594355-133594388
GRCh38: X:134460325-134460358
24 HPRT1 NM_000194.3(HPRT1):c.124_127del (p.Ile42fs) Deletion Pathogenic 861226 GRCh37: X:133607483-133607486
GRCh38: X:134473453-134473456
25 HPRT1 NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) Duplication Pathogenic 167181 rs786200980 GRCh37: X:133609282-133609283
GRCh38: X:134475252-134475253
26 HPRT1 NM_000194.3(HPRT1):c.143G>A (p.Arg48His) SNV Pathogenic 29985 rs387906725 GRCh37: X:133609219-133609219
GRCh38: X:134475189-134475189
27 HPRT1 NM_000194.3(HPRT1):c.143G>A (p.Arg48His) SNV Pathogenic 29985 rs387906725 GRCh37: X:133609219-133609219
GRCh38: X:134475189-134475189
28 HPRT1 NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) SNV Pathogenic 10060 rs137852494 GRCh37: X:133609227-133609227
GRCh38: X:134475197-134475197
29 HPRT1 NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) SNV Likely pathogenic 654514 rs137852490 GRCh37: X:133634060-133634060
GRCh38: X:134500030-134500030
30 HPRT1 NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) Deletion Likely pathogenic 960238 GRCh37: X:133632668-133632668
GRCh38: X:134498638-134498638
31 HPRT1 NM_000194.3(HPRT1):c.610C>G (p.His204Asp) SNV Likely pathogenic 10047 rs137852490 GRCh37: X:133634060-133634060
GRCh38: X:134500030-134500030
32 HPRT1 NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) SNV Likely pathogenic 847940 GRCh37: X:133627616-133627616
GRCh38: X:134493586-134493586
33 HPRT1 NM_000194.3(HPRT1):c.486-2A>G SNV Likely pathogenic 857727 GRCh37: X:133632418-133632418
GRCh38: X:134498388-134498388
34 HPRT1 NM_000194.3(HPRT1):c.609dup (p.His204fs) Duplication Likely pathogenic 526797 rs1556030169 GRCh37: X:133632713-133632714
GRCh38: X:134498683-134498684
35 HPRT1 NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) Deletion Uncertain significance 652617 rs1602750626 GRCh37: X:133634098-133634098
GRCh38: X:134500068-134500068
36 HPRT1 NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) SNV Uncertain significance 282685 rs886042455 GRCh37: X:133627620-133627620
GRCh38: X:134493590-134493590
37 HPRT1 NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) SNV Uncertain significance 656688 rs1602750635 GRCh37: X:133634103-133634103
GRCh38: X:134500073-134500073
38 HPRT1 NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) SNV Uncertain significance 1011699 GRCh37: X:133620531-133620531
GRCh38: X:134486501-134486501
39 HPRT1 NM_000194.3(HPRT1):c.486-3C>G SNV Uncertain significance 1039442 GRCh37: X:133632417-133632417
GRCh38: X:134498387-134498387

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

72 (show all 27)
# 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 rs122863409
25 HPRT1 p.Thr124Pro VAR_071618
26 HPRT1 p.Asp185Gly VAR_071622
27 HPRT1 p.Ala192Val VAR_071623

Expression for Hyperuricemia, Hprt-Related

Search GEO for disease gene expression data for Hyperuricemia, Hprt-Related.

Pathways for Hyperuricemia, Hprt-Related

GO Terms for Hyperuricemia, Hprt-Related

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

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

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

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

Sources for Hyperuricemia, Hprt-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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