LND
MCID: LSC001
MIFTS: 68

Lesch-Nyhan Syndrome (LND) malady

Metabolic, Neuronal, Nephrological, Blood categories

Summaries for Lesch-Nyhan Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 hyperuricemia, and has symptoms including movement disorder, hypertonia/spasticity/rigidity/stiffness and hemiplegia/diplegia/hemiparesia/limb palsy. 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 9-deazaguanine and Alpha-Phosphoribosylpyrophosphoric Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related mouse phenotypes are integument and homeostasis/metabolism.

NINDS:44 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.

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.

Wikipedia:64 Lesch–Nyhan syndrome (LNS), also known as Nyhan\'s syndrome, Kelley-Seegmiller syndrome and juvenile... more...

Description from OMIM:47 300322,308950

GeneReviews summary for lns

Aliases & Classifications for Lesch-Nyhan Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lesch-nyhan syndrome 8 9 64 19 43 21 44 47 10 45 49 61
complete hypoxanthine-guanine phosphoribosyltransferase deficiency 8 64 21
hypoxanthine guanine phosphoribosyltransferase deficiency 8 43 21
lesch nyhan syndrome 43 20 22
total hypoxanthine-guanine phosphoribosyl transferase deficiency 64 21
juvenile gout, choreoathetosis, mental retardation syndrome 64 21
hypoxanthine-guanine phosphoribosyltransferase deficiency 8 19
x-linked uric aciduria enzyme defect 64 21
juvenile hyperuricemia syndrome 64 21
x-linked primary hyperuricemia 64 21
primary hyperuricemia syndrome 64 21
complete hprt deficiency 64 21
x-linked hyperuricemia 8 21
total hprt deficiency 64 21
lesch-nyhan disease 19 21
hgprt deficiency 19 21
hprt deficiency 19 43
hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv 49
hypoxanthine guanine phosphoribosyltransferase complete deficiency 49
hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency 64
hypoxanthine guanine phospho-ribosyltransferase 1 deficiency 43
hypoxanthine-guanine-phosphoribosyltransferase deficiency 8
choreoathetosis self-mutilation hyperuricemia syndrome 64
deficiency of hypoxanthine phosphoribosyltransferase 21
hypoxanthine phosphoribosyltransferse deficiency 64
hypoxanthine phosphoribosyltransferase deficiency 21
deficiency of guanine phosphoribosyltransferase 21
choreoathetosis self-mutilation syndrome 21
deficiency of imp pyrophosphorylase 8
hprt deficiency, complete 43
hprt deficiency grade iv 49
hprt complete deficiency 49
lesch - nyhan syndrome 8
hg-prt deficiency 8
hprt1 deficiency 43
lns 21
lnd 21


External Ids:

Disease Ontology8 DOID:1919
MeSH35 D007926
NCIt40 C61255
MESH via Orphanet36 D007926
ICD10 via Orphanet26 E79.1
SNOMED-CT via Orphanet58 10406007
UMLS via Orphanet62 C0023374
ICD1025 E79.1

Related Diseases for Lesch-Nyhan Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1phosphoribosylpyrophosphate synthetase superactivity30.8PRPS1
2hyperuricemia30.7HPRT1, XDH, PRPS1L1, PRPS1, APRT
3gout30.6APRT, PRPS1, PRPS1L1, PRPS2, XDH, HPRT1
4hprt-related gout30.4APRT, HPRT1
5nephrolithiasis30.4APRT, XDH, HPRT1
6mental retardation30.4MAOA, NGF, HPRT1, ADSL
7n syndrome11.6
8char syndrome10.7
9micro syndrome10.6
10phosphoribosylpyrophosphate synthetase deficiency10.6
11basal ganglia disease10.4
12b cell deficiency10.4
13young syndrome10.4
14serotonin syndrome10.4
15adenine phosphoribosyltransferase deficiency10.4
16gout, hprt1-related10.4
17protoporphyria, erythropoietic, x-linked10.4
18tetrahydrobiopterin deficiency10.3
19adenosine deaminase deficiency10.3
20parkinson's disease10.3
21xeroderma pigmentosum10.3
22phenylketonuria10.3
23maple syrup urine disease10.3
24protein s deficiency10.3
25adult syndrome10.3
26brain disease10.3
27athetosis10.3
28neonatal hypothyroidism10.3
29hair-an syndrome10.3
30mass syndrome10.3
31orotic aciduria10.3
32pelvis syndrome10.3
33atlantoaxial subluxation10.3
34papillary carcinoma10.0
35lupus nephritis10.0
36nephritis10.0
37tuberculosis10.0PNP
38intellectual disability10.0HPRT1
39substance abuse10.0SLC6A3
40arts syndrome10.0PRPS1
41pathological gambling10.0SLC6A3
42acute urate nephropathy10.0XDH, HPRT1
43molybdenum cofactor deficiency10.0XDH, PNP
44personality disorder10.0SLC6A3, MAOA
45obesity10.0SLC6A3, MAOA
46antisocial personality disorder10.0MAOA, SLC6A3
47gilles de la tourette syndrome10.0MAOA, SLC6A3
48pneumonia10.0XDH, FGA
49purine nucleoside phosphorylase deficiency10.0HPRT1, PRPS2, APRT
50arthritis10.0HPRT1

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



Diseases related to lesch-nyhan syndrome

Clinical Features for Lesch-Nyhan Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300322,308950

Clinical synopsis from OMIM:

300322

Symptoms:

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

Drugs & Therapeutics for Lesch-Nyhan Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Lesch-Nyhan Syndrome:

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

Anatomical Context for Lesch-Nyhan Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

33
Brain, Spinal cord, Kidney, Liver, Skin, Myeloid, T cells, B lymphoblasts, B cells, Globus pallidus

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1APRT, XDH, NGF, HPRT1, FGA, SLC6A3
2MP:00053767.9APRT, MAOA, XDH, NGF, HPRT1, FGA

Publications for Lesch-Nyhan Syndrome

Sources:
51PubMed
See all sources

Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. (21078074)
2010
2
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. (18520986)
2008
3
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. (15711436)
2005
4
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. (16138673)
2005
5
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. (15140374)
2004
6
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)
2001
7
Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndrome. (10854773)
2000
8
In our parents' shadow. Lesch-Nyhan syndrome. (10214251)
1999
9
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. (9288634)
1997
10
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA). (9088115)
1996
11
Serial renal sonographic evaluation of patients with Lesch-Nyhan syndrome. (7885788)
1994
12
A female patient with Lesch-Nyhan syndrome. (1612215)
1992
13
Serotonin-GABA treatment is hypothesized for self-injury in Lesch-Nyhan syndrome. (1491633)
1992
14
Clinical quiz. Lesch-Nyhan syndrome. (1768590)
1991
15
Renal sonography in long standing Lesch-Nyhan syndrome. (1999070)
1991
16
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. (1886405)
1991
17
Prenatal diagnosis of Lesch-Nyhan syndrome]. (2381248)
1990
18
Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex. (2327243)
1990
19
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). (2624182)
1989
20
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism. (2502677)
1989
21
Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome. (2573408)
1989
22
Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling. (2762241)
1989
23
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (3076300)
1988
24
Prevention of xanthine stone formation by augmented dose of allopurinol in the Lesch-Nyhan syndrome. (3580782)
1987
25
Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis. (3014211)
1986
26
Anesthesia and the Lesch-Nyhan syndrome. (3839638)
1985
27
Renal xanthine stone in Lesch-Nyhan syndrome treated with allopurinol. (4012980)
1985
28
Lesch-Nyhan syndrome: a nonextracting approach to prevent mutilation. (3864253)
1985
29
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation. (6201351)
1984
30
Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. (6826658)
1983
31
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. (7111674)
1982
32
Lesch-Nyhan syndrome. (6957565)
1982
33
Protein variations associated with Lesch-Nyhan syndrome. (6947238)
1981
34
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency. (7228031)
1981
35
Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome. (6155447)
1980
36
Clinical and biochemical observations on a patient with the Lesch-Nyhan syndrome. (669907)
1978
37
Lesch-Nyhan Syndrome: report of three cases in one family. (279570)
1978
38
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome. (856956)
1977
39
Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome. (180603)
1976
40
Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome. (171772)
1975
41
The diagnosis of the carrier state for the Lesch--Nyhan syndrome. (1178810)
1975
42
Lesch-Nyhan syndrome: evidence for abnormal adrenergic function. (4469689)
1974
43
Letter: Magnesium in Lesch-Nyhan syndrome. (4855866)
1974
44
Lesch-Nyhan syndrome (familial hyperuricaemia). (4791770)
1973
45
The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine. (4699176)
1973
46
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome. (4354248)
1972
47
Lesch-Nyhan syndrome. (5514644)
1970
48
The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome. (5503686)
1970
49
The pathological condition of Lesch-Nyhan syndrome. Report of two cases. (5807658)
1969
50
Lesch-Nyhan syndrome. Management and treatment. (4298065)
1968

Genetic Variations for Lesch-Nyhan Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Lesch-Nyhan Syndrome:

63 (show all 28)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Lesch-Nyhan Syndrome

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
19-deazaguanine45 1111.3PNP, HPRT1
2Alpha-Phosphoribosylpyrophosphoric Acid1110.3APRT, HPRT1
38-azaguanine45 1111.3HPRT1, PNP
46-thiouric acid4510.3HPRT1, XDH
5febuxostat60 4511.2XDH, PNP
6ethyl methanesulfonate4510.2HPRT1, APRT
7monamine4510.2SLC6A3, MAOA
8inosine45 2411.2APRT, PNP, HPRT1
92,8-dihydroxyadenine4510.2HPRT1, XDH, APRT
10thiopurine4510.1HPRT1, PNP, XDH
11p-chloroamphetamine4510.1MAOA, SLC6A3
12allopurinol45 50 1112.1APRT, XDH, HPRT1
13molybdenum45 2411.1ADSL, XDH, PNP
14carbon-114510.1SLC6A3, MAOA
15nomifensine45 29 1112.0SLC6A3, MAOA
16phentermine45 1111.0SLC6A3, MAOA
174-Methoxyamphetamine119.9SLC6A3, MAOA
186 thioguanine459.9PNP, NGF, HPRT1
19inosine monophosphate459.9ADSL, APRT, PNP, HPRT1
20n-methyl-n-nitrosourea459.9HPRT1, PPAT
21MMDA119.9SLC6A3, MAOA
22nucleoside459.8APRT, HPRT1, PNP, ADSL
23adenylosuccinate459.8PNP, PPAT, APRT, ADSL
24selegiline45 1110.8NGF, SLC6A3, MAOA
25carbon459.7PNP, MAOA, HPRT1, SLC6A3
26desipramine45 50 1111.7NGF, SLC6A3, MAOA
275-methylthioadenosine459.7APRT, ADSL, PNP, NGF
28fluoxetine50 45 29 1112.7MAOA, SLC6A3, NGF
296-hydroxydopamine459.7MAOA, SLC6A3, NGF
30mptp459.7MAOA, SLC6A3, NGF
31purine nucleoside459.6ADSL, APRT, XDH, HPRT1, PNP
32xanthine45 2410.6APRT, XDH, ADSL, PNP, HPRT1
33azathioprine45 50 2 1112.6PNP, HPRT1, NGF, XDH
34adenine45 11 2411.6PNP, ADSL, APRT, XDH, HPRT1
35d amphetamine459.6SLC6A3, MAOA
36guanine45 11 2411.5PPAT, XDH, HPRT1, APRT, PNP
37adenylate459.3APRT, ADSL, PNP, HPRT1, NGF
38h2o2459.2MAOA, XDH, HPRT1, PNP, SLC6A3, APRT
39uric acid45 249.9ADSL, HPRT1, APRT, XDH, PRPS1, PPAT
40purine45 249.9ADSL, PNP, HPRT1, PRPS1, PPAT, APRT
41thymidine45 249.9FGA, HPRT1, PNP, ADSL, APRT, NGF
42phosphoric acid45 249.9HPRT1, APRT, PPAT, PRPS1, PRPS2
43hypoxanthine45 11 2410.8ADSL, PNP, APRT, HPRT1, NGF, XDH
44glutamate458.7ADSL, PPAT, SLC6A3, MAOA, NGF, HPRT1
45cysteine458.6MAOA, SLC6A3, PNP, PPAT, HPRT1, NGF
46pyrophosphate45 249.6HPRT1, PNP, PRPS1, PRPS2, PPAT, APRT
47creatinine458.6SLC6A3, FGA, ADSL, HPRT1, NGF, APRT
48Adenosine monophosphate11 249.4PRPS1L1, PRPS2, HPRT1, ADSL, PRPS1, APRT
49magnesium45 11 2410.0PRPS1L1, PRPS2, PRPS1, PPAT, HPRT1
50prpp457.8PRPS1, PNP, HPRT1, PRPS2, PRPS1L1, PPAT

GO Terms for genes affiliated with Lesch-Nyhan Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lesch-Nyhan Syndrome

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