LND
MCID: LSC001
MIFTS: 77

Lesch-Nyhan Syndrome (LND) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases categories
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Summaries for Lesch-Nyhan Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 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 x-linked recessive inheritance, hematuria/microhematuria and hyperuricemia. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (hypoxanthine phosphoribosyltransferase 1), and among its related pathways are Oxidative Stress and Monoamine Transport. The compounds 9-deazaguanine and 5-Aminoimidazole-4-carboxamide have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and globus pallidus, and related mouse phenotypes are integument and mortality/aging.

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: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.

Wikipedia:65 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

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



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 65 19 43 21 44 47 10 45 49 62
complete hypoxanthine-guanine phosphoribosyltransferase deficiency 8 65 21
hypoxanthine guanine phosphoribosyltransferase deficiency 8 43 21
lesch nyhan syndrome 43 20 22
total hypoxanthine-guanine phosphoribosyl transferase deficiency 65 21
juvenile gout, choreoathetosis, mental retardation syndrome 65 21
hypoxanthine-guanine phosphoribosyltransferase deficiency 8 19
x-linked uric aciduria enzyme defect 65 21
juvenile hyperuricemia syndrome 65 21
x-linked primary hyperuricemia 65 21
primary hyperuricemia syndrome 65 21
complete hprt deficiency 65 21
x-linked hyperuricemia 8 21
total hprt deficiency 65 21
lesch-nyhan disease 19 21
hgprt deficiency 19 21
hprt deficiency 19 43
lns 43 21
hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv 49
hypoxanthine guanine phosphoribosyltransferase complete deficiency 49
hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency 65
hypoxanthine guanine phospho-ribosyltransferase 1 deficiency 43
hypoxanthine-guanine-phosphoribosyltransferase deficiency 8
choreoathetosis self-mutilation hyperuricemia syndrome 65
deficiency of hypoxanthine phosphoribosyltransferase 21
hypoxanthine phosphoribosyltransferse deficiency 65
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
lnd 21


External Ids:

Disease Ontology8 DOID:1919
MeSH35 D007926
NCIt40 C61255
MESH via Orphanet36 D007926
ICD10 via Orphanet26 E79.1
SNOMED-CT via Orphanet59 10406007
UMLS via Orphanet63 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1phosphoribosylpyrophosphate synthetase superactivity31.0PRPS1
2hyperuricemia30.9XDH, HPRT1, PRPS1, APRT
3hprt-related gout30.6HPRT1, APRT
4gout30.6APRT, PRPS2, HPRT1, PNP, XDH, PRPS1
5nephrolithiasis30.6HPRT1, APRT, XDH
6mental retardation30.5MAOA, HPRT1, ADSL, NGF
7parkinson's disease30.5MAOA, NGF, SLC6A3
8lung cancer30.2APRT, HPRT1, XDH, PPAT
9neuroblastoma10.5
10neuronitis10.5
11gout, hprt1-related10.4
12protoporphyria, erythropoietic, x-linked10.4
13orotic aciduria10.3
14maple syrup urine disease10.3
15phenylketonuria10.3
16cerebritis10.3
17xeroderma pigmentosum10.3
18cerebral palsy10.3
19cervicitis10.3
20herpes simplex10.3
21hypothyroidism10.3
22proteinuria10.3
23pulmonary embolism10.3
24neurologic diseases10.3
25athetosis10.3
26neonatal hypothyroidism10.3
27blindness10.3
28atlantoaxial subluxation10.3
29adenosine deaminase deficiency10.3
30tetrahydrobiopterin deficiency10.3
31oppositional defiant disorder10.1SLC6A3
32pathological gambling10.1SLC6A3
33substance abuse10.1SLC6A3
34acute urate nephropathy10.1HPRT1, XDH
35molybdenum cofactor deficiency10.1XDH, PNP
36personality disorder10.1MAOA, SLC6A3
37drug dependence10.1SLC6A3, MAOA
38conduct disorder10.1MAOA, SLC6A3
39antisocial personality disorder10.1SLC6A3, MAOA
40gilles de la tourette syndrome10.1SLC6A3, MAOA
41obsessive-compulsive disorder10.1MAOA, SLC6A3
42movement disease10.1HPRT1, SLC6A3
43primary hyperoxaluria10.1HPRT1, XDH, APRT
44purine nucleoside phosphorylase deficiency10.1APRT, HPRT1, PRPS2
45anxiety disorder10.1MAOA, SLC6A3
46malaria10.0HPRT1, XDH, PNP
47attention deficit hyperactivity disorder10.0SLC6A3, MAOA
48vitiligo10.0XDH, MAOA
49acute kidney failure10.0XDH, HPRT1
50central nervous system disease10.0NGF, SLC6A3, HPRT1

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



Diseases related to lesch-nyhan syndrome

Symptoms for Lesch-Nyhan Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

300322

Clinical features from OMIM:

300322,308950

Symptoms:

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

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Lesch-Nyhan Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

33
Kidney, Brain, Globus pallidus, Liver, Skin, Myeloid, Testes, Spinal cord

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.9XDH, NGF, APRT, HPRT1, SLC6A3, FGA
2MP:00107687.9PNP, NGF, APRT, HPRT1, SLC6A3, FGA
3MP:00053767.4FGA, XDH, PNP, NGF, APRT, HPRT1

Publications for Lesch-Nyhan Syndrome

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52PubMed
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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 360)
idTitleAuthorsYear
1
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. (22350962)
2012
2
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. (21331772)
2011
3
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. (22132985)
2011
4
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. (18992978)
2009
5
Lesch-Nyhan syndrome: a case report. (18974538)
2008
6
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
7
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. (16537260)
2006
8
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)
2001
9
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome. (11783490)
2000
10
Gabapentin for self-injurious behavior in Lesch-Nyhan syndrome. (10371385)
1999
11
Relationship of dopamine to serotonin in the neonatal 6-OHDA rat model of Lesch-Nyhan syndrome. (10780253)
1999
12
Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome. (9670994)
1998
13
Polysomnographic studies of Lesch-Nyhan syndrome. (9865540)
1998
14
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. (9211189)
1997
15
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. (9288634)
1997
16
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA). (9088115)
1996
17
Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. (8163858)
1994
18
A self-controllable mask with helmet to prevent self finger-mutilation in the Lesch-Nyhan syndrome. (8002775)
1994
19
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (8381385)
1993
20
Lesch-Nyhan syndrome in a girl. (1434518)
1992
21
Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. (1393404)
1992
22
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis. (1781404)
1991
23
Clinical quiz. Lesch-Nyhan syndrome. (1768590)
1991
24
Recurrent coma and Lesch-Nyhan syndrome. (1764145)
1991
25
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). (2624182)
1989
26
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism. (2502677)
1989
27
Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk. (2798351)
1989
28
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)
1988
29
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (3076300)
1988
30
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. (3148065)
1988
31
Effective behavioral treatment of self-biting by a child with Lesch-Nyhan syndrome. (3678633)
1987
32
Lesch-Nyhan syndrome: mutation, prevention, and therapy. (3330841)
1987
33
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
34
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. (7111674)
1982
35
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. (6117011)
1981
36
The orofacial manifestations of the Lesch-Nyhan syndrome. (6807929)
1981
37
Protein variations associated with Lesch-Nyhan syndrome. (6947238)
1981
38
The Lesch-Nyhan syndrome: report of case. (284029)
1979
39
The Lesch-Nyhan syndrome: a family study. (272569)
1977
40
Letter: Self mutilation in Lesch-Nyhan syndrome. (4132504)
1974
41
Growth retardation in the Lesch-Nyhan syndrome. (4363845)
1974
42
The Lesch-Nyhan syndrome: report of three cases. (4502719)
1972
43
Molecular aspects of the Lesch-Nyhan syndrome. (4654165)
1972
44
The Lesch-Nyhan syndrome. (5491543)
1970
45
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. (5263751)
1970
46
Possible mechanism for increased purine biosynthesis de novo in Lesch-Nyhan syndrome. (4298063)
1968
47
Megaloblastic anaemia in the Lesch-Nyhan syndrome. (4173010)
1968
48
Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome. (4298064)
1968
49
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. (5658470)
1968
50
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. (5658468)
1968

Variations for Lesch-Nyhan Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lesch-Nyhan Syndrome:

64 (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

Clinvar genetic disease variations for Lesch-Nyhan Syndrome:

1 (show all 40)
id Gene Name Type Significance SNP ID Assembly Location
1HPRT1HPRT CHICAGOinsertionPathogenic, other
2HPRT1HPRT CONNERSVILLEdeletionPathogenic, other
3HPRT1NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro)single nucleotide variantPathogenic, otherrs137852480GRCh37Chr X, 133607483: 133607483
4HPRT1NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs)deletionPathogenic, otherrs387906428GRCh37Chr X, 133634093: 133634113
5HPRT1NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu)single nucleotide variantPathogenic, otherrs137852481GRCh37Chr X, 133609298: 133609298
6HPRT1NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn)single nucleotide variantPathogenic, otherrs267606863GRCh37Chr X, 133632685: 133632685
7HPRT1HPRT MICHIGANdeletionPathogenic, other
8HPRT1NM_000194.2(HPRT1): c.389T> A (p.Val130Asp)single nucleotide variantPathogenic, otherrs137852483GRCh37Chr X, 133624222: 133624222
9HPRT1NM_000194.2(HPRT1): c.595T> G (p.Phe199Val)single nucleotide variantPathogenic, otherrs137852486GRCh37Chr X, 133632700: 133632700
10HPRT1NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu)single nucleotide variantPathogenic, otherrs137852487GRCh37Chr X, 133609285: 133609285
11HPRT1NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg)single nucleotide variantPathogenic, otherrs137852488GRCh37Chr X, 133609287: 133609287
12HPRT1NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter)single nucleotide variantPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
13HPRT1NM_000194.2(HPRT1): c.610C> G (p.His204Asp)single nucleotide variantPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
14HPRT1NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys)single nucleotide variantPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
15HPRT1NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr)single nucleotide variantPathogenicrs137852492GRCh37Chr X, 133632463: 133632463
16HPRT1HPRT, 2-BP DEL, GTdeletionPathogenic
17HPRT1HPRT, 1-BP DEL, TTA-TAdeletionPathogenic
18HPRT1HPRT, 1-BP DEL, TTG-TGdeletionPathogenic
19HPRT1HPRT, 40-BP DELdeletionPathogenic
20HPRT1HPRT, IVS8DS, G-A, +5single nucleotide variantPathogenic
21HPRT1NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTTindelPathogenicGRCh37Chr X, 133634056: 133634059
22HPRT1HPRT, IVS7DS, G-A, +5single nucleotide variantPathogenic
23HPRT1HPRT, IVS1AS, A-T, -2single nucleotide variantPathogenic
24HPRT1NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu)single nucleotide variantPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
25HPRT1NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter)single nucleotide variantPathogenic, otherrs137852494GRCh37Chr X, 133609227: 133609227
26HPRT1NM_000194.2(HPRT1): c.428T> A (p.Met143Lys)single nucleotide variantPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
27HPRT1NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter)single nucleotide variantPathogenicrs137852497GRCh37Chr X, 133632442: 133632442
28HPRT1HPRT, EX2DELdeletionPathogenic
29HPRT1HPRT, EX4-9DELdeletionPathogenic
30HPRT1NC_000023.11: g.(134493178_134493182)_(134501172_134501176)deldeletionPathogenicGRCh38Chr X, 134493182: 134501172
31HPRT1HPRT, EX9DELdeletionPathogenic
32HPRT1HPRT, DELdeletionPathogenic
33HPRT1HPRT,1-BP INS, 207GinsertionPathogenic
34HPRT1HPRT, INV/DEL, EX6-9deletionPathogenic
35HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenic
36HPRT1HPRT CHERMSIDEdeletionPathogenic, other
37HPRT1HPRT COORPAROOinsertionPathogenic, other
38HPRT1NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp)single nucleotide variantPathogenic, otherrs137852503GRCh37Chr X, 133627554: 133627554
39HPRT1NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter)single nucleotide variantPathogenic, otherrs137852505GRCh37Chr X, 133627594: 133627594
40HPRT1NM_000194.2: c.-707_27+2236deldeletionPathogenicGRCh38Chr X, 134459640: 134462574

Expression for genes affiliated with Lesch-Nyhan Syndrome

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson Reuters, 55Reactome
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Pathways related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8MAOA, XDH
2
Show member pathways
Serotonin Transporter Activity38
9.8SLC6A3, MAOA
39.7ADSL, PPAT
4
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.3PPAT, PRPS1, HPRT1
5
Show member pathways
pentose phosphate pathway (non-oxidative branch)38
pentose phosphate pathway38
PRPP biosynthesis38
9.2PRPS2, PRPS1
6
Show member pathways
guanosine nucleotides de novo biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
9.1HPRT1, APRT, PNP, PPAT
78.7ADSL, PRPS1, PRPS2, HPRT1
8
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
8.5PPAT, XDH, PNP, APRT, ADSL, HPRT1
9
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
7.3HPRT1, PPAT, XDH, PNP, APRT, ADSL
10
Show member pathways
7.0PPAT, XDH, PNP, APRT, ADSL, PRPS1

Compounds for genes affiliated with Lesch-Nyhan Syndrome

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45Novoseek, 11DrugBank, 24HMDB, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 3BitterDB
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Compounds related to Lesch-Nyhan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
19-deazaguanine45 1111.3PNP, HPRT1
25-Aminoimidazole-4-carboxamide2410.2ADSL, APRT
36-thiouric acid4510.2XDH, HPRT1
48-azaguanine45 1111.2PNP, HPRT1
52,8-dihydroxyadenine4510.1APRT, HPRT1, XDH
6febuxostat61 4511.0XDH, PNP
7allopurinol45 51 1112.0XDH, HPRT1, APRT
8didanosine45 51 1112.0HPRT1, XDH, PNP
9monamine4510.0SLC6A3, MAOA
10thiopurine4510.0XDH, PNP, HPRT1
11molybdenum45 2411.0PNP, XDH, ADSL
12p-chloroamphetamine459.9SLC6A3, MAOA
13carbon-11459.9SLC6A3, MAOA
14ethyl methanesulfonate459.9HPRT1, APRT
15inosine monophosphate459.8PNP, HPRT1, ADSL, APRT
16nomifensine45 29 1111.8SLC6A3, MAOA
17inosine45 2410.8APRT, PNP, XDH, HPRT1
18nucleoside459.7PNP, APRT, ADSL, HPRT1
196 thioguanine459.7NGF, PNP, HPRT1
20Phosphoribosyl-ATP249.6PRPS2, PRPS1
21adenylosuccinate459.5ADSL, APRT, PPAT, PNP
22carbon459.5PNP, HPRT1, MAOA, SLC6A3
23purine nucleoside459.5HPRT1, XDH, ADSL, APRT, PNP
24xanthine45 2410.5ADSL, XDH, PNP, APRT, HPRT1
25selegiline45 1110.5NGF, MAOA, SLC6A3
26adenine45 24 1111.5XDH, PNP, ADSL, APRT, HPRT1
27phentermine45 1110.5SLC6A3, MAOA
285-methylthioadenosine459.4NGF, APRT, ADSL, PNP
29desipramine45 51 1111.4SLC6A3, NGF, MAOA
306-hydroxydopamine459.4NGF, MAOA, SLC6A3
31fluoxetine45 51 29 1112.4NGF, MAOA, SLC6A3
32mptp459.4NGF, MAOA, SLC6A3
33azathioprine45 3 51 1112.4XDH, PNP, NGF, HPRT1
34guanine45 24 1111.2PPAT, XDH, PNP, APRT, HPRT1
35levodopa45 1110.1MAOA, NGF, SLC6A3
36adenylate459.1HPRT1, ADSL, PNP, NGF, APRT
37h2o2459.0MAOA, SLC6A3, HPRT1, APRT, PNP, XDH
38Adenosine monophosphate24 119.8ADSL, APRT, PRPS1, HPRT1, PRPS2
39norepinephrine45 24 1110.7SLC6A3, NGF, MAOA, FGA
40thymidine45 249.7PNP, HPRT1, FGA, NGF, APRT, ADSL
41Phosphoribosyl pyrophosphate248.6PRPS2, PRPS1, APRT, PPAT, HPRT1
42phosphoric acid45 249.6HPRT1, PRPS2, PPAT, APRT, PRPS1
43uric acid45 249.6PRPS1, ADSL, XDH, HPRT1, APRT, PNP
44purine45 249.6XDH, PNP, PPAT, APRT, ADSL, PRPS1
45hypoxanthine45 24 1110.4PNP, NGF, APRT, ADSL, HPRT1, PPAT
46creatinine458.3PNP, NGF, APRT, FGA, SLC6A3, HPRT1
47pyrophosphate45 249.3PRPS1, HPRT1, PRPS2, APRT, PNP, PPAT
48glutamate458.2HPRT1, MAOA, SLC6A3, ADSL, NGF, PPAT
49cysteine458.1SLC6A3, NGF, PNP, XDH, HPRT1, MAOA
50prpp458.1PPAT, PRPS1, ADSL, APRT, PNP, PRPS2

GO Terms for genes affiliated with Lesch-Nyhan Syndrome

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Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1ribose phosphate diphosphokinase complexGO:0021899.2PRPS2, PRPS1
2cytosolGO:0058297.3HPRT1, PPAT, XDH, PNP, APRT, ADSL

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1urate biosynthetic processGO:03441810.1PNP, PRPS1
2hypoxanthine metabolic processGO:04610010.0PRTFDC1, HPRT1
3purine nucleotide catabolic processGO:00619510.0PNP, XDH
4GMP catabolic processGO:04603810.0PRTFDC1, HPRT1
5GMP salvageGO:03226310.0PRTFDC1, HPRT1
6dopamine catabolic processGO:04242010.0SLC6A3, MAOA
7purine-containing compound salvageGO:04310110.0PNP, APRT, HPRT1
8guanine salvageGO:00617810.0PRTFDC1, HPRT1
9grooming behaviorGO:00762510.0APRT, HPRT1
10IMP salvageGO:0322649.9PRTFDC1, HPRT1
11de novo IMP biosynthetic processGO:0061899.8ADSL, PPAT
12neurotransmitter biosynthetic processGO:0421369.8MAOA, SLC6A3
13adenine salvageGO:0061689.8APRT, PRTFDC1, HPRT1
14purine ribonucleoside monophosphate biosynthetic processGO:0091689.8ADSL, PPAT
15purine ribonucleoside salvageGO:0061669.8HPRT1, PRTFDC1, APRT
165-phosphoribose 1-diphosphate biosynthetic processGO:0060159.5PRPS2, PRPS1
17response to nicotineGO:0350949.4SLC6A3, NGF
18purine nucleotide biosynthetic processGO:0061649.4HPRT1, PRPS1, ADSL, PPAT
19lactationGO:0075959.3PPAT, XDH, APRT, SLC6A3
20AMP biosynthetic processGO:0061679.3PRPS2, PRPS1, ADSL
21response to drugGO:0424939.2SLC6A3, NGF, PNP
22nucleobase-containing compound metabolic processGO:0061399.1PRPS2, PNP
23organ regenerationGO:0311009.0PPAT, PRPS1, PRPS2
24nucleobase-containing small molecule metabolic processGO:0550868.9PPAT, XDH, PNP, APRT, ADSL, HPRT1
25purine nucleobase metabolic processGO:0061448.5HPRT1, PPAT, XDH, PNP, APRT, ADSL
26small molecule metabolic processGO:0442818.1PPAT, XDH, PNP, APRT, ADSL, PRPS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hypoxanthine phosphoribosyltransferase activityGO:0044229.8HPRT1, PRTFDC1
2ribose phosphate diphosphokinase activityGO:0047499.2PRPS2, PRPS1
3GDP bindingGO:0190039.2PRPS2, PRPS1
4AMP bindingGO:0162089.2PRPS2, PRPS1, APRT
5ADP bindingGO:0435319.1PRPS1, PRPS2
6kinase activityGO:0163018.9PRPS2, PRPS1
7magnesium ion bindingGO:0002878.6PRPS1, PRPS2, PRTFDC1, HPRT1
8protein homodimerization activityGO:0428038.2XDH, PRPS1, PRPS2, PRTFDC1, HPRT1

Products for genes affiliated with Lesch-Nyhan Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lesch-Nyhan Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet