LND
MCID: LSC001
MIFTS: 79

Lesch-Nyhan Syndrome (LND) malady

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

Summaries for Lesch-Nyhan Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Lesch nyhan syndrome is an inherited condition caused by the build-up of uric acid. excess uric acid can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body. symptoms may include arthritis, poor muscle control, moderate cognitive disabilities, severe kidney problems, and self-mutilating behaviors. lesch nyhan syndrome is caused by mutations in the hprt1 gene. it is inherited in an x-linked recessive manner. treatment is based on the symptoms. last updated: 12/15/2010

MalaCards: Lesch-Nyhan Syndrome, also known as complete hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to phosphoribosylpyrophosphate synthetase superactivity and neuroblastoma, and has symptoms including anaemia, hematuria/microhematuria and renal failure. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (hypoxanthine phosphoribosyltransferase 1), and among its related pathways are adenine and adenosine salvage III and Enzymatic degradation of dopamine by COMT. The compounds Alpha-Phosphoribosylpyrophosphoric Acid and 9-deazaguanine have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related mouse phenotypes are integument and homeostasis/metabolism.

Genetics Home Reference:21 Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.

NINDS:43 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme (HPRT. LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.

Wikipedia:63 Lesch–Nyhan syndrome (LNS), also known as Nyhan\'s syndrome, Kelley-Seegmiller syndrome and juvenile... more...

Description from OMIM:46 300322,308950

GeneReviews summary for lns

Aliases & Classifications for Lesch-Nyhan Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lesch-nyhan syndrome 8 9 63 19 42 21 43 46 10 44 48 60
complete hypoxanthine-guanine phosphoribosyltransferase deficiency 8 63 21
hypoxanthine guanine phosphoribosyltransferase deficiency 8 42 21
lesch nyhan syndrome 42 20 22
total hypoxanthine-guanine phosphoribosyl transferase deficiency 63 21
juvenile gout, choreoathetosis, mental retardation syndrome 63 21
hypoxanthine-guanine phosphoribosyltransferase deficiency 8 19
x-linked uric aciduria enzyme defect 63 21
juvenile hyperuricemia syndrome 63 21
x-linked primary hyperuricemia 63 21
primary hyperuricemia syndrome 63 21
complete hprt deficiency 63 21
x-linked hyperuricemia 8 21
total hprt deficiency 63 21
lesch-nyhan disease 19 21
hgprt deficiency 19 21
hprt deficiency 19 42
hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv 48
hypoxanthine guanine phosphoribosyltransferase complete deficiency 48
hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency 63
hypoxanthine guanine phospho-ribosyltransferase 1 deficiency 42
hypoxanthine-guanine-phosphoribosyltransferase deficiency 8
choreoathetosis self-mutilation hyperuricemia syndrome 63
deficiency of hypoxanthine phosphoribosyltransferase 21
hypoxanthine phosphoribosyltransferse deficiency 63
hypoxanthine phosphoribosyltransferase deficiency 21
deficiency of guanine phosphoribosyltransferase 21
choreoathetosis self-mutilation syndrome 21
deficiency of imp pyrophosphorylase 8
hprt deficiency, complete 42
hprt deficiency grade iv 48
hprt complete deficiency 48
lesch - nyhan syndrome 8
hg-prt deficiency 8
hprt1 deficiency 42
lns 21
lnd 21


External Ids:

Disease Ontology8 DOID:1919
MeSH34 D007926
NCIt39 C61255
MESH via Orphanet35 D007926
ICD10 via Orphanet26 E79.1
SNOMED-CT via Orphanet57 10406007
UMLS via Orphanet61 C0023374
ICD1025 E79.1

Related Diseases for Lesch-Nyhan Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Lesch-Nyhan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1phosphoribosylpyrophosphate synthetase superactivity30.8PRPS1
2neuroblastoma30.7NGF
3hyperuricemia30.7HPRT1, XDH, PRPS1L1, PRPS1, APRT
4gout30.6APRT, PRPS1, PRPS1L1, PRPS2, XDH, HPRT1
5hprt-related gout30.4APRT, HPRT1
6nephrolithiasis30.4APRT, XDH, HPRT1
7basal ganglia disease10.4
8neuronitis10.4
9image syndrome10.4
10adenine phosphoribosyltransferase deficiency10.4
11gout, hprt1-related10.4
12protoporphyria, erythropoietic, x-linked10.4
13differentiating neuroblastoma10.3
14tetrahydrobiopterin deficiency10.3
15adenosine deaminase deficiency10.3
16parkinson's disease10.3
17cerebritis10.3
18xeroderma pigmentosum10.3
19phenylketonuria10.3
20maple syrup urine disease10.3
21adult syndrome10.3
22brain disease10.3
23cerebral palsy10.3
24cervicitis10.3
25herpes simplex10.3
26hypothyroidism10.3
27proteinuria10.3
28pulmonary embolism10.3
29x-linked disease10.3
30neurologic diseases10.3
31lung cancer10.1
32tuberculosis10.0PNP
33intellectual disability10.0HPRT1
34substance abuse10.0SLC6A3
35arts syndrome10.0PRPS1
36pathological gambling10.0SLC6A3
37acute urate nephropathy10.0XDH, HPRT1
38molybdenum cofactor deficiency10.0XDH, PNP
39personality disorder10.0SLC6A3, MAOA
40obesity10.0SLC6A3, MAOA
41antisocial personality disorder10.0MAOA, SLC6A3
42gilles de la tourette syndrome10.0MAOA, SLC6A3
43pneumonia10.0XDH, FGA
44purine nucleoside phosphorylase deficiency10.0HPRT1, PRPS2, APRT
45arthritis10.0HPRT1
46attention deficit hyperactivity disorder10.0MAOA, SLC6A3
47primary hyperoxaluria10.0HPRT1, XDH, APRT
48metabolic syndrome x10.0APRT, XDH, PNP, ADSL
49central nervous system disease10.0NGF, HPRT1, SLC6A3
50ischemia10.0SLC6A3, FGA, XDH

Graphical network of the top 20 diseases related to Lesch-Nyhan Syndrome:



Diseases related to lesch-nyhan syndrome

Clinical Features for Lesch-Nyhan Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300322,308950

Clinical synopsis from OMIM:

300322

Symptoms:

48 (show all 11)
  • anaemia
  • hematuria/microhematuria
  • renal failure
  • x-linked recessive inheritance
  • hyperuricemia
  • arthritis/synovitis/synovial proliferation
  • psychic/behavioural troubles
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypertonia/spasticity/rigidity/stiffness
  • movement disorder

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Lesch-Nyhan Syndrome

Drug clinical trials:

Search ClinicalTrials for Lesch-Nyhan Syndrome

Search NIH Clinical Center for Lesch-Nyhan Syndrome

Search CenterWatch for Lesch-Nyhan Syndrome

Genetic Tests for Lesch-Nyhan Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Lesch-Nyhan Syndrome:

id Genetic test Affiliating Genes
1 Lesch-Nyhan Syndrome20 22 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

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32MalaCards
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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

32
Kidney, Skin, Brain, Globus pallidus, Liver, Myeloid, Testes, Spinal cord

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1SLC6A3, FGA, HPRT1, NGF, XDH, APRT
2MP:00053767.9MAOA, XDH, NGF, HPRT1, FGA, PNP

Publications for Lesch-Nyhan Syndrome

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50PubMed
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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. (21331772)
2011
2
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. (20874729)
2010
3
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
4
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. (16530134)
2005
5
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. (12829005)
2003
6
Functional analysis of self-injurious behavior in an adult with Lesch-Nyhan syndrome. (11961912)
2002
7
The Lesch-Nyhan syndrome]. (11928606)
2001
8
Prevention of self-mutilation in patients with Lesch-Nyhan syndrome: review of literature. (11693008)
2001
9
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome. (11783490)
2000
10
Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. (10984673)
2000
11
Orthopedic problems in Lesch-Nyhan syndrome. (10488858)
1999
12
Cross-sensitization between footshock stress and apomorphine on self-injurious behavior and neostriatal catecholamines in a rat model of Lesch-Nyhan syndrome. (9479035)
1998
13
Gene therapy for inherited neurological disorders: towards therapeutic intervention in the Lesch-Nyhan syndrome. (9932427)
1998
14
Oral self-mutilation by a 17-month-old child with Lesch-Nyhan syndrome. (9524464)
1997
15
A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene]. (9396032)
1997
16
Atlantoaxial instability in Lesch-Nyhan syndrome. (8882700)
1996
17
Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome. (8162028)
1994
18
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. (8485579)
1993
19
Lesch-Nyhan syndrome in a girl. (1434518)
1992
20
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. (1432691)
1992
21
Recurrent coma and Lesch-Nyhan syndrome. (1764145)
1991
22
Quantitative histologic study of the sural nerve in Lesch-Nyhan syndrome. (2173615)
1990
23
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. (2928313)
1989
24
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)
1988
25
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. (2455472)
1988
26
Molecular analysis of Lesch-Nyhan syndrome found in Japan. (3413775)
1988
27
Effective behavioral treatment of self-biting by a child with Lesch-Nyhan syndrome. (3678633)
1987
28
Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome. (2988699)
1985
29
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome. (3925393)
1985
30
Lesch-Nyhan syndrome, caffeine model: increase of purine and pyrimidine enzymes in rat brain. (6149265)
1984
31
Lesch-Nyhan syndrome. (7070471)
1982
32
Lesch-Nyhan syndrome-like behavior in rats from caffeine ingestion: changes in HGPRTase activity, urea and some nitrogen metabolism enzymes. (7201410)
1982
33
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. (6117011)
1981
34
Behavioural treatment of Lesch-Nyhan syndrome. (7390041)
1980
35
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells. (7402756)
1980
36
The Lesch-Nyhan syndrome: report of case. (284029)
1979
37
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency. (306325)
1978
38
An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues. (989165)
1976
39
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. (933118)
1976
40
The Lesch-Nyhan syndrome. (4219709)
1974
41
Biochemical studies on the carrier state in the Lesch-Nyhan syndrome. (4785123)
1973
42
Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome. (5024037)
1972
43
Clinical features of the Lesch-Nyhan syndrome. (5050553)
1972
44
Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. (5555078)
1971
45
Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. (5134918)
1971
46
The Lesch-Nyhan syndrome. (4326512)
1971
47
A screening technique for the Lesch-Nyhan syndrome. (5094259)
1971
48
Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children. (5538093)
1970
49
Rational approaches to the treatment of the Lesch-Nyhan syndrome. (4298066)
1968
50
Urinary and cerebrospinal fluid oxypurine levels and allopurinol metabolism in the Lesch-Nyhan syndrome. (5658472)
1968

Genetic Variations for Lesch-Nyhan Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Lesch-Nyhan Syndrome:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1HPRT1p.Val8GlyVAR_006751
2HPRT1p.Gly16AspVAR_006752
3HPRT1p.Leu41ProVAR_006756
4HPRT1p.Ile42PheVAR_006757
5HPRT1p.Ile42ThrVAR_006758
6HPRT1p.Arg45LysVAR_006760
7HPRT1p.Ala50ValVAR_006762
8HPRT1p.Ala50ProVAR_006763
9HPRT1p.Arg51ProVAR_006765
10HPRT1p.Met54LeuVAR_006769
11HPRT1p.Met57ThrVAR_006770
12HPRT1p.Gly70GluVAR_006773
13HPRT1p.Gly71ArgVAR_006774
14HPRT1p.Phe74LeuVAR_006775
15HPRT1p.Val130AspVAR_006780
16HPRT1p.Leu131SerVAR_006781
17HPRT1p.Ile132ThrVAR_006783
18HPRT1p.Met143LysVAR_006785
19HPRT1p.Ser162ArgVAR_006788
20HPRT1p.Pro176LeuVAR_006790
21HPRT1p.Asp177ValVAR_006791
22HPRT1p.Asp177TyrVAR_006792
23HPRT1p.Asp194AsnVAR_006798
24HPRT1p.Phe199ValVAR_006800
25HPRT1p.Asp201TyrVAR_006803
26HPRT1p.His204AspVAR_006804
27HPRT1p.His204ArgVAR_006805
28HPRT1p.Cys206TyrVAR_006806

Expression for genes affiliated with Lesch-Nyhan Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lesch-Nyhan Syndrome

Search GEO for disease gene expression data for Lesch-Nyhan Syndrome.

Pathways for genes affiliated with Lesch-Nyhan Syndrome

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37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Lesch-Nyhan Syndrome

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11DrugBank, 44Novoseek, 59Tocris Bioscience, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB
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Compounds related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
1Alpha-Phosphoribosylpyrophosphoric Acid1110.3APRT, HPRT1
29-deazaguanine44 1111.3PNP, HPRT1
38-azaguanine44 1111.3HPRT1, PNP
46-thiouric acid4410.3XDH, HPRT1
5febuxostat59 4411.2XDH, PNP
6ethyl methanesulfonate4410.2APRT, HPRT1
7monamine4410.2MAOA, SLC6A3
8inosine44 2411.2PNP, HPRT1, APRT
92,8-dihydroxyadenine4410.2HPRT1, XDH, APRT
10thiopurine4410.1PNP, HPRT1, XDH
11carbon-114410.1SLC6A3, MAOA
12allopurinol44 49 1112.1HPRT1, XDH, APRT
13molybdenum44 2411.1ADSL, PNP, XDH
14p-chloroamphetamine4410.1SLC6A3, MAOA
15nomifensine44 28 1112.0MAOA, SLC6A3
16MMDA1110.0MAOA, SLC6A3
174-Methoxyamphetamine119.9MAOA, SLC6A3
186 thioguanine449.9NGF, HPRT1, PNP
19inosine monophosphate449.9APRT, HPRT1, PNP, ADSL
20n-methyl-n-nitrosourea449.9HPRT1, PPAT
21phentermine44 1110.9MAOA, SLC6A3
22nucleoside449.8ADSL, PNP, HPRT1, APRT
23adenylosuccinate449.8APRT, PPAT, PNP, ADSL
24selegiline44 1110.8MAOA, NGF, SLC6A3
25carbon449.7MAOA, HPRT1, PNP, SLC6A3
26desipramine44 49 1111.7SLC6A3, NGF, MAOA
275-methylthioadenosine449.7APRT, NGF, PNP, ADSL
28fluoxetine49 44 28 1112.7MAOA, NGF, SLC6A3
296-hydroxydopamine449.7SLC6A3, NGF, MAOA
30mptp449.7SLC6A3, NGF, MAOA
31purine nucleoside449.6APRT, XDH, HPRT1, PNP, ADSL
32xanthine44 2410.6APRT, XDH, HPRT1, PNP, ADSL
33azathioprine44 49 2 1112.6XDH, NGF, HPRT1, PNP
34adenine44 11 2411.6APRT, XDH, HPRT1, PNP, ADSL
35d amphetamine449.6SLC6A3, MAOA
36guanine44 11 2411.5APRT, PPAT, XDH, HPRT1, PNP
37adenylate449.3APRT, NGF, HPRT1, PNP, ADSL
38h2o2449.2APRT, MAOA, XDH, HPRT1, PNP, SLC6A3
39uric acid44 249.9APRT, PPAT, PRPS1, XDH, HPRT1, PNP
40purine44 249.9APRT, PPAT, PRPS1, XDH, HPRT1, PNP
41thymidine44 249.9APRT, NGF, HPRT1, FGA, PNP, ADSL
42phosphoric acid44 249.9APRT, PPAT, PRPS1, PRPS2, HPRT1
43hypoxanthine44 11 2410.8APRT, PPAT, XDH, NGF, HPRT1, PNP
44glutamate448.7PPAT, MAOA, NGF, HPRT1, PNP, SLC6A3
45cysteine448.6PPAT, MAOA, XDH, NGF, HPRT1, PNP
46pyrophosphate44 249.6APRT, PPAT, PRPS1, PRPS2, HPRT1, PNP
47creatinine448.6APRT, NGF, HPRT1, FGA, PNP, SLC6A3
48Adenosine monophosphate11 249.4APRT, PRPS1, PRPS1L1, PRPS2, HPRT1, ADSL
49magnesium44 11 2410.0PPAT, PRPS1, PRPS1L1, PRPS2, HPRT1
50prpp447.8ADSL, APRT, PPAT, PRPS1, PRPS1L1, PRPS2

GO Terms for genes affiliated with Lesch-Nyhan Syndrome

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16Gene Ontology
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Cellular components related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.0ADSL, PNP, HPRT1, XDH, PRTFDC1, PRPS1

Biological processes related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1urate biosynthetic processGO:03441810.1PRPS1, PNP
2dopamine catabolic processGO:04242010.1MAOA, SLC6A3
3purine-containing compound salvageGO:04310110.0PNP, HPRT1, APRT
4hypoxanthine metabolic processGO:04610010.0PRTFDC1, HPRT1
5GMP catabolic processGO:04603810.0PRTFDC1, HPRT1
6purine nucleotide catabolic processGO:00619510.0PNP, XDH
7GMP salvageGO:03226310.0PRTFDC1, HPRT1
8guanine salvageGO:00617810.0PRTFDC1, HPRT1
9de novo IMP biosynthetic processGO:00618910.0PPAT, ADSL
10grooming behaviorGO:0076259.9APRT, HPRT1
11IMP salvageGO:0322649.9HPRT1, PRTFDC1
12purine ribonucleoside monophosphate biosynthetic processGO:0091689.9PPAT, ADSL
13adenine salvageGO:0061689.8APRT, PRTFDC1, HPRT1
14purine ribonucleoside salvageGO:0061669.8HPRT1, PRTFDC1, APRT
15ribonucleoside monophosphate biosynthetic processGO:0091569.7PRPS1L1, PRPS1
16response to nicotineGO:0350949.7SLC6A3, NGF
17purine nucleotide biosynthetic processGO:0061649.6ADSL, HPRT1, PRPS1, PPAT
18AMP biosynthetic processGO:0061679.6PRPS2, ADSL
19lactationGO:0075959.6APRT, PPAT, XDH, SLC6A3
20neurotransmitter biosynthetic processGO:0421369.6SLC6A3, MAOA
21nucleobase-containing small molecule metabolic processGO:0550869.2APRT, PPAT, XDH, HPRT1, PNP, ADSL
225-phosphoribose 1-diphosphate biosynthetic processGO:0060159.0PRPS2, PRPS1L1, PRPS1
23purine nucleobase metabolic processGO:0061448.8ADSL, APRT, PPAT, PRPS1, XDH, HPRT1
24small molecule metabolic processGO:0442818.5APRT, PPAT, PRPS1, MAOA, XDH, HPRT1

Molecular functions related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hypoxanthine phosphoribosyltransferase activityGO:0044229.6HPRT1, PRTFDC1
2AMP bindingGO:0162089.4PRPS2, APRT
3ribose phosphate diphosphokinase activityGO:0047498.8PRPS2, PRPS1L1, PRPS1
4kinase activityGO:0163018.4PRPS1, PRPS1L1, PRPS2
5magnesium ion bindingGO:0002878.0PRPS1, PRPS1L1, PRTFDC1, PRPS2, HPRT1
6protein homodimerization activityGO:0428037.7PRPS1, PRPS1L1, PRTFDC1, PRPS2, XDH, HPRT1

Products for genes affiliated with Lesch-Nyhan Syndrome

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Sources for Lesch-Nyhan Syndrome

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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