MCID: KLL014
MIFTS: 33

Kelley-Seegmiller Syndrome

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

Aliases & Classifications for Kelley-Seegmiller Syndrome

MalaCards integrated aliases for Kelley-Seegmiller Syndrome:

Name: Kelley-Seegmiller Syndrome 57 59 75 40
Hprt-Related Gout 57 59 75 13
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 29 6
Hprt Deficiency, Partial 57 55
Gout, Hprt-Related 57 73
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial 57
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency 59
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I 59
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency 59
Hprt-Related Hyperuricemia 59
Hprt1 Deficiency, Partial 57
Hprt Deficiency, Grade I 59
Hprt1 Partial Deficiency 59
Hprt Partial Deficiency 59
Gout Hprt-Related 75
Gout-Hprt 75

Characteristics:

Orphanet epidemiological data:

59
hypoxanthine guanine phosphoribosyltransferase partial deficiency
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
kelley-seegmiller syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300323
Orphanet 59 ORPHA79233
UMLS via Orphanet 74 C0268117
ICD10 via Orphanet 34 E79.8
MedGen 42 C0268117
SNOMED-CT via HPO 69 236423003 42399005 67148009
UMLS 73 C0268117

Summaries for Kelley-Seegmiller Syndrome

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)

MalaCards based summary : Kelley-Seegmiller Syndrome, also known as hprt-related gout, is related to lesch-nyhan syndrome and purine-pyrimidine metabolic disorder. An important gene associated with Kelley-Seegmiller Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Purine metabolism (KEGG) and Purine metabolism (REACTOME). Related phenotypes are renal insufficiency and nephrolithiasis

UniProtKB/Swiss-Prot : 75 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.

Related Diseases for Kelley-Seegmiller Syndrome

Diseases related to Kelley-Seegmiller Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lesch-nyhan syndrome 31.5 APRT HPRT1
2 purine-pyrimidine metabolic disorder 9.5 APRT HPRT1
3 adenine phosphoribosyltransferase deficiency 9.4 APRT HPRT1
4 xanthinuria 9.2 APRT HPRT1
5 gout 9.0 APRT HPRT1

Graphical network of the top 20 diseases related to Kelley-Seegmiller Syndrome:



Diseases related to Kelley-Seegmiller Syndrome

Symptoms & Phenotypes for Kelley-Seegmiller Syndrome

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrolithiasis
renal failure

Laboratory Abnormalities:
hyperuricemia
hyperuricosuria

Skeletal Feet:
gout


Clinical features from OMIM:

300323

Human phenotypes related to Kelley-Seegmiller Syndrome:

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

Drugs & Therapeutics for Kelley-Seegmiller Syndrome

Search Clinical Trials , NIH Clinical Center for Kelley-Seegmiller Syndrome

Genetic Tests for Kelley-Seegmiller Syndrome

Genetic tests related to Kelley-Seegmiller Syndrome:

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

Anatomical Context for Kelley-Seegmiller Syndrome

Publications for Kelley-Seegmiller Syndrome

Articles related to Kelley-Seegmiller Syndrome:

# Title Authors Year
1
Unusual presentation of Kelley-Seegmiller syndrome. ( 18600521 )
2008
2
Partial HPRT deficiency (Kelley-Seegmiller syndrome). ( 16649740 )
2006
3
Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille). ( 15334740 )
2004
4
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. ( 12508781 )
2002
5
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. ( 10657589 )
2000
6
Kelley-Seegmiller syndrome: a case report and review of the literature. ( 9651092 )
1998
7
Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome. ( 8051925 )
1994

Variations for Kelley-Seegmiller Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Kelley-Seegmiller Syndrome:

75 (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
25 HPRT1 p.Thr124Pro VAR_071618
26 HPRT1 p.Asp185Gly VAR_071622
27 HPRT1 p.Ala192Val VAR_071623

ClinVar genetic disease variations for Kelley-Seegmiller Syndrome:

6
(show all 37)
# 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.396T> G (p.Ile132Met) single nucleotide variant Pathogenic rs137852477 GRCh38 Chromosome X, 134490199: 134490199
3 HPRT1 NM_000194.2(HPRT1): c.239A> T (p.Asp80Val) single nucleotide variant Pathogenic rs137852478 GRCh37 Chromosome X, 133609315: 133609315
4 HPRT1 NM_000194.2(HPRT1): c.239A> T (p.Asp80Val) single nucleotide variant Pathogenic rs137852478 GRCh38 Chromosome X, 134475285: 134475285
5 HPRT1 NM_000194.2(HPRT1): c.602A> G (p.Asp201Gly) single nucleotide variant Pathogenic rs137852479 GRCh37 Chromosome X, 133632707: 133632707
6 HPRT1 NM_000194.2(HPRT1): c.602A> G (p.Asp201Gly) single nucleotide variant Pathogenic rs137852479 GRCh38 Chromosome X, 134498677: 134498677
7 HPRT1 NM_000194.2(HPRT1): c.329C> T (p.Ser110Leu) single nucleotide variant Pathogenic rs137852482 GRCh37 Chromosome X, 133620505: 133620505
8 HPRT1 NM_000194.2(HPRT1): c.329C> T (p.Ser110Leu) single nucleotide variant Pathogenic rs137852482 GRCh38 Chromosome X, 134486475: 134486475
9 HPRT1 NM_000194.2(HPRT1): c.481G> T (p.Ala161Ser) single nucleotide variant Pathogenic rs137852484 GRCh37 Chromosome X, 133627616: 133627616
10 HPRT1 NM_000194.2(HPRT1): c.481G> T (p.Ala161Ser) single nucleotide variant Pathogenic rs137852484 GRCh38 Chromosome X, 134493586: 134493586
11 HPRT1 NM_000194.2(HPRT1): c.312C> A (p.Ser104Arg) single nucleotide variant Pathogenic rs137852485 GRCh37 Chromosome X, 133609388: 133609388
12 HPRT1 NM_000194.2(HPRT1): c.312C> A (p.Ser104Arg) single nucleotide variant Pathogenic rs137852485 GRCh38 Chromosome X, 134475358: 134475358
13 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh37 Chromosome X, 133620501: 133620501
14 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh38 Chromosome X, 134486471: 134486471
15 HPRT1 NM_000194.2(HPRT1): c.151C> G (p.Arg51Gly) single nucleotide variant Pathogenic rs137852494 GRCh37 Chromosome X, 133609227: 133609227
16 HPRT1 NM_000194.2(HPRT1): c.151C> G (p.Arg51Gly) single nucleotide variant Pathogenic rs137852494 GRCh38 Chromosome X, 134475197: 134475197
17 HPRT1 HPRT, 13-BP DEL, 5-PRIME UTR deletion Pathogenic
18 HPRT1 NM_000194.2(HPRT1): c.503C> T (p.Thr168Ile) single nucleotide variant Pathogenic rs137852498 GRCh37 Chromosome X, 133632437: 133632437
19 HPRT1 NM_000194.2(HPRT1): c.503C> T (p.Thr168Ile) single nucleotide variant Pathogenic rs137852498 GRCh38 Chromosome X, 134498407: 134498407
20 HPRT1 NM_000194.2(HPRT1): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic rs137852499 GRCh37 Chromosome X, 133607407: 133607407
21 HPRT1 NM_000194.2(HPRT1): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic rs137852499 GRCh38 Chromosome X, 134473377: 134473377
22 HPRT1 NM_000194.2(HPRT1): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs137852500 GRCh37 Chromosome X, 133609248: 133609248
23 HPRT1 NM_000194.2(HPRT1): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs137852500 GRCh38 Chromosome X, 134475218: 134475218
24 HPRT1 NM_000194.2(HPRT1): c.232C> G (p.Leu78Val) single nucleotide variant Pathogenic rs137852501 GRCh37 Chromosome X, 133609308: 133609308
25 HPRT1 NM_000194.2(HPRT1): c.232C> G (p.Leu78Val) single nucleotide variant Pathogenic rs137852501 GRCh38 Chromosome X, 134475278: 134475278
26 HPRT1 NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly) single nucleotide variant Pathogenic rs137852502 GRCh37 Chromosome X, 133609231: 133609231
27 HPRT1 NM_000194.2(HPRT1): c.155A> G (p.Asp52Gly) single nucleotide variant Pathogenic rs137852502 GRCh38 Chromosome X, 134475201: 134475201
28 HPRT1 NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu) single nucleotide variant Pathogenic rs137852504 GRCh37 Chromosome X, 133632687: 133632687
29 HPRT1 NM_000194.2(HPRT1): c.582C> G (p.Asp194Glu) single nucleotide variant Pathogenic rs137852504 GRCh38 Chromosome X, 134498657: 134498657
30 HPRT1 NM_000194.2(HPRT1): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs137852506 GRCh37 Chromosome X, 133609269: 133609269
31 HPRT1 NM_000194.2(HPRT1): c.193C> T (p.Leu65Phe) single nucleotide variant Pathogenic rs137852506 GRCh38 Chromosome X, 134475239: 134475239
32 HPRT1 NM_000194.2(HPRT1): c.143G> A (p.Arg48His) single nucleotide variant Pathogenic rs387906725 GRCh37 Chromosome X, 133609219: 133609219
33 HPRT1 NM_000194.2(HPRT1): c.143G> A (p.Arg48His) single nucleotide variant Pathogenic rs387906725 GRCh38 Chromosome X, 134475189: 134475189
34 HPRT1 NC_000023.11: g.(?_134460292)_(134500097_?)del deletion Pathogenic GRCh37 Chromosome X, 133594322: 133634127
35 HPRT1 NC_000023.11: g.(?_134460292)_(134500097_?)del deletion Pathogenic GRCh38 Chromosome X, 134460292: 134500097
36 HPRT1 NM_000194.2(HPRT1): c.609dup (p.His204Serfs) duplication Likely pathogenic GRCh37 Chromosome X, 133632714: 133632714
37 HPRT1 NM_000194.2(HPRT1): c.609dup (p.His204Serfs) duplication Likely pathogenic GRCh38 Chromosome X, 134498684: 134498684

Expression for Kelley-Seegmiller Syndrome

Search GEO for disease gene expression data for Kelley-Seegmiller Syndrome.

Pathways for Kelley-Seegmiller Syndrome

GO Terms for Kelley-Seegmiller Syndrome

Biological processes related to Kelley-Seegmiller Syndrome according to GeneCards Suite gene sharing:

# 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 salvage GO:0006168 8.96 APRT HPRT1
6 adenine metabolic process GO:0046083 8.62 APRT HPRT1

Molecular functions related to Kelley-Seegmiller Syndrome according to GeneCards Suite gene sharing:

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

Sources for Kelley-Seegmiller Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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