Lesch-nyhan Syndrome malady

Genetics Home Reference: Lesch-Nyhan syndrome is a condition characterized by the overproduction and accumulation of uric acid, a waste product of normal chemical processes that is found in blood and urine. The overproduction of uric acid can cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints), kidney stones, and bladder stones. Problems with the nervous system and behavioral disturbances are also characteristic of this disorder. Abnormal involuntary muscle movements such as flexing, jerking, and flailing are often displayed by people affected with this disorder. People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and are generally wheelchair-bound. Self-injury, including biting and head banging, is the most common and distinctive behavioral problem in those with Lesch-Nyhan syndrome.¹⁷

MalaCards: Lesch-nyhan Syndrome, also known as complete hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to hyperuricemia and phosphoribosylpyrophosphate synthetase superactivity. An important gene associated with Lesch-nyhan Syndrome is HPRT1 (hypoxanthine phosphoribosyltransferase 1), and among its related pathways are Purine catabolism and ATP/ITP metabolism. The drugs mannitol hexanitrate and rasburicase and the compounds Alpha-Phosphoribosylpyrophosphoric Acid and 9-deazaguanine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and t cells.

NIH Rare Diseases: 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.³⁰

NINDS: 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.³¹

Wikipedia: Lesch–Nyhan syndrome (LNS), also known as Nyhan\'s syndrome, Kelley-Seegmiller syndrome and Juvenile...⁴⁴ more...

OMIM: 300322

GeneReviews summary for lns

Aliases & Descriptions:

lesch-nyhan syndrome 6 7 44 15 30 17 31 8 33 32 43 complete hypoxanthine-guanine phosphoribosyltransferase deficiency 6 44 17 hprt deficiency 15 30 16 total hypoxanthine-guanine phosphoribosyl transferase deficiency 44 17 juvenile gout, choreoathetosis, mental retardation syndrome 44 17 hypoxanthine guanine phosphoribosyltransferase deficiency 6 30 hypoxanthine-guanine phosphoribosyltransferase deficiency 15 16 x-linked uric aciduria enzyme defect 44 17 juvenile hyperuricemia syndrome 44 17 x-linked primary hyperuricemia 44 17 primary hyperuricemia syndrome 44 17 complete hprt deficiency 44 17 total hprt deficiency 44 17 lesch nyhan syndrome 30 16 hgprt deficiency 15 16 lns 30 17 hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) 6 hypoxanthine-guanine-phosphoribosyltransferase deficiency (& ) 6 hypoxanthine-guanine phosphoribosyltransferase (hgprt) deficiency 17 hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency 44

hypoxanthine guanine phospho-ribosyltransferase 1 deficiency 30 hypoxanthine phosphoribosyltransferse (hprt) deficiency 44 choreoathetosis self-mutilation hyperuricemia syndrome 44 deficiency of hypoxanthine phosphoribosyltransferase 17 deficiency of guanine phosphoribosyltransferase 17 choreoathetosis self-mutilation syndrome 17 deficiency of imp pyrophosphorylase 6 x-linked hyperuricemia (disorder) 6 lesch-nyhan syndrome (disorder) 6 hprt deficiency, complete 30 familial juvenile gout 43 x-linked hyperuricemia 17 lesch - nyhan syndrome 6 lesch-nyhan disease 15 hg-prt deficiency 6 hprt1 deficiency 30 hyperuricemia 43 malnutrition 43 aciduria 43

Diseases related to lesch-nyhan syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 501)

id	Related Disease	Score	Top Affiliating Genes
1	hyperuricemia	33.9	PRPS2, PRPS1, PRPS1L1, HPRT1, APRT, XDH
2	phosphoribosylpyrophosphate synthetase superactivity	32.5	PRPS1, PPAT, HPRT1
3	xanthinuria	31.3	XDH, APRT
4	neuroblastoma	30.2	SLC6A3, NGF, PNP, HPRT1, MAOA, XDH
5	urolithiasis	30.2	PRPS1, HPRT1, APRT, XDH
6	gout	28.9	ADSL, PRPS1, PNP, HPRT1, MAOA, APRT
7	alcoholism	28.4	SLC6A3, NGF, MAOA
8	cerebritis	28.0	SLC6A3, PRTFDC1, NGF, HPRT1, MAOA, XDH
9	hypouricemia	27.3	XDH, HPRT1, PNP
10	eating disorder	25.3	MAOA, NGF, SLC6A3
11	purine nucleoside phosphorylase deficiency	24.6	PRPS2, PRPS1, PNP, HPRT1, APRT
12	purine-pyrimidine metabolic disorder	13.4	HPRT1, APRT
13	acute urate nephropathy	13.3	XDH, HPRT1
14	exhibitionism	13.3	MAOA, PNP
15	molybdenum cofactor deficiency	13.2	PNP, XDH
16	personality disorder	13.2	MAOA, SLC6A3
17	antisocial personality disorder	13.2	SLC6A3, MAOA
18	nucleoside phosphorylase deficiency	13.1	PNP, HPRT1, APRT
19	adenine phosphoribosyltransferase deficiency	13.1	HPRT1, APRT, XDH
20	arts syndrome	13.1	ADSL, PRPS1
21	pathological gambling	13.1	MAOA, SLC6A3
22	pthirus pubis infestation	13.1	NGF, HPRT1
23	borderline personality disorder	13.1	SLC6A3, MAOA
24	manic-depressive illness	13.0	MAOA, SLC6A3
25	nephrolithiasis	13.0	HPRT1, APRT, XDH
26	striatal degeneration	13.0	NGF, SLC6A3
27	conduction disease	12.8	SLC6A3, MAOA
28	obesity, association with	12.8	XDH, MAOA, SLC6A3
29	central nervous system disease	12.8	SLC6A3, NGF, HPRT1
30	bilirubin metabolic disorder	12.8	XDH, APRT, PNP, ADSL
31	opiate dependence	12.7	MAOA, SLC6A3
32	substance abuse	12.7	SLC6A3, NGF, MAOA
33	fibromyalgia	12.7	SLC6A3, NGF, MAOA
34	intellectual disability	12.7	MAOA, HPRT1, SLC6A3, ADSL
35	toxic encephalopathy	12.6	SLC6A3, NGF, MAOA
36	mental retardation syndrome	12.5	ADSL, NGF, HPRT1, MAOA
37	traumatic brain injury	12.5	MAOA, NGF, SLC6A3
38	epilepsy syndrome	12.4	ADSL, SLC6A3, NGF, MAOA
39	neurologic diseases	12.4	ADSL, SLC6A3, NGF, XDH
40	attention deficit hyperactivity disorder	12.4	SLC6A3, NGF, MAOA
41	brain injury	12.3	XDH, MAOA, NGF, SLC6A3
42	neurodegenerative disease	12.0	XDH, MAOA, NGF, SLC6A3
43	hearing loss	12.0	PRPS1, PRPS1L1, NGF, XDH
44	lung carcinoma	10.9	SLC6A3, NGF, PNP, PPAT, HPRT1, MAOA
45	colorectal cancer	10.9	ADSL, SLC6A3, PRPS2, PRPS1, NGF, HPRT1
46	malaria	10.1	PRTFDC1, PRPS2, PRPS1, PRPS1L1, PNP, HPRT1
47	pneumonia	9.8	ADSL, PRTFDC1, PRPS2, PRPS1, PRPS1L1, PNP
48	tuberculosis	9.5	PRPS1, PRPS2, PRTFDC1, ADSL, PRPS1L1, PNP
49	2-hydroxyglutaric aciduria	9.5
50	3-methylglutaconic aciduria	9.0

Clinical features from OMIM: 300322

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 mannitol hexanitrate, rasburicase

Genetic tests related to lesch-nyhan syndrome:

id	Genetic test	Affiliating Genes
1	Lesch-nyhan Syndrome clinical/research	HPRT1

MalaCards organs/tissues related to lesch-nyhan syndrome:

²²

Articles related to lesch-nyhan syndrome:

(show top 50)    (show all 59)

id	Title	Authors	Year	Affiliating Genes
1	Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)	Pela I.... Fiorini P.	2008	HPRT1
2	Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. (18067674)	Torres R.J.... Puig J.G.	2007	HPRT1
3	Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. (16773422)	Sikora P.... Zajczkowska M.	2006	HPRT1
4	Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. (17065067)	Torres R.J.... Puig J.G.	2006	HPRT1
5	Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. (17062485)	Hou J.W.	2006	HPRT1
6	Self-mutilation behaviour in Lesch-Nyhan syndrome. (16138897)	Cauwels R.G.... Martens L.C.	2005	HPRT1
7	Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. (15711436)	Deutsch S.I.... Eller J.	2005	HPRT1
8	Mutation carrier testing in Lesch-Nyhan syndrome fami lies: HPRT mutant frequency and mutation analysis with peripheral blood T lymph ocytes. (15140374)	O'Neill J.P.	2004	HPRT1
9	Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy (15258855)	Rebentisch G.... Muche J.	2004	APRT
10	Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. (15571224)	Mizunuma M.... Fujimori S.	2004	HPRT1
11	The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. (15193365)	Neychev V.K.... Mitev V.I.	2004	HPRT1
12	Case report: the Lesch-Nyhan syndrome. (15202925)	Benz C.M.... Agostini F.G.	2004	HPRT1
13	Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. (12829005)	Ohdoi C.... Kuhara T.	2003	HPRT1, XDH
14	Treatment of Lesch-Nyhan syndrome (12436387)	De Antonio I.... GarcA-a-Puig J.	2002	HPRT1
15	A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)	Mizunuma M.... Kamatani N.	2001	HPRT1
16	The Lesch-Nyhan syndrome (11928606)	Peco-AntiA8 A.... KrusciA8 D.	2001	HPRT1
17	Hypoxanthine-guanine phosphoribosyltransferase-deficiency produces aberrant neurite outgrowth of rodent neuroblastoma used to model the neurological disorder Lesch Nyhan syndrome. (11698147)	Connolly G.P.	2001	HPRT1
18	Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndrome. (10854773)	Stacey N.C.... Connolly G.P.	2000	HPRT1
19	Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients. (10884027)	Pesi R.... Tozzi M.G.	2000	HPRT1
20	New mutations of the HPRT gene in Lesch-Nyhan syndrome. (11068166)	Mak B.S.... Lin H.Y.	2000	HPRT1
21	Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. (9561984)	Harris J.C.... Bryan R.N.	1998	HPRT1
22	Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome. (9670994)	Yeh J.... Howard B.D.	1998	HPRT1, NGF
23	Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome. (9733436)	Daniels R.... Monk M.	1998	HPRT1
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. (9799086)	Tvrdik T.... Lambert B.	1998	HPRT1
25	Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. (9288634)	Kim K.J.... Ogasawara N.	1997	HPRT1
26	HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. (8894695)	Engle S.J.... Tischfield J.A.	1996	APRT
27	Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome. (8992857)	Shimizu N.... Aoki T.	1996	HPRT1
28	Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. (8664901)	Aral B.... Ceballos-Picot I.	1996	HPRT1
29	A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA). (9088115)	Yamada Y.... Ogasawara N.	1996	HPRT1
30	Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family. (8851475)	Lee W.J.... Lin W.H.	1995	HPRT1
31	Lesch-Nyhan syndrome and its pathogenesis: normal nic otinamide-adenine dinucleotide but reduced ATP concentrations that correlate wi th reduced poly(ADP-ribose) synthetase activity in HPRT-deficient lymphoblasts. (8750613)	McCreanor G.M.... Harkness R.A.	1995	HPRT1
32	Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. (7586656)	Renwick P.J.... HultAcn M.	1995	HPRT1
33	Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. (8163858)	Sugahara T.... Mori Y.	1994	HPRT1
34	Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. (8485579)	Wu C.L.... Melton D.W.	1993	HPRT1
35	Lesch-Nyhan Syndrome (20301328)	Nyhan W.L.... Harris J.C.	1993	HPRT1
36	Decreased 6-keto prostaglandin F1 alpha (6-keto PGF1 alpha) in patients with Lesch-Nyhan syndrome. (8279655)	Imamura A.... Arima M.	1993	XDH
37	Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome. (8111415)	Marcus S.... Malm G.	1993	HPRT1
38	The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report. (1561565)	Gilbert R.D.... Marinaki A.	1992	HPRT1
39	Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. (1432691)	Jinnah H.A.... Friedmann T.	1992	HPRT1
40	Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome. (1777100)	Jinnah H.A.... Friedmann T.	1991	HPRT1
41	The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. (1886405)	Harkness R.A.... Greenwood R.	1991	HPRT1
42	Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. (2071157)	Tarle S.A.... Palella T.D.	1991	HPRT1
43	A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling. (2343029)	Page T.... Broock R.L.	1990	HPRT1
44	Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. (2323782)	Fujimori S.... Akaoka I.	1990	HPRT1
45	Prenatal diagnosis of Lesch-Nyhan syndrome (2381248)	Mateos AntA^n F.... Romera Menoyo N.	1990	HPRT1, APRT
46	Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. (2358296)	Skopek T.R.... Albertini R.J.	1990	HPRT1
47	Identification of a single nucleotide change in the hypoxanthine- guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. (2910902)	Fujimori S.... Palella T.D.	1989	HPRT1
48	Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. (2928313)	Gibbs R.A.... Caskey C.T.	1989	HPRT1
49	Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)	Davidson B.L.... Kelly W.N.	1988	HPRT1
50	Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). (3384338)	Davidson B.L.... Palella T.D.	1988	HPRT1

Genes related to lesch-nyhan syndrome according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	HPRT1	hypoxanthine phosphoribosyltransferase 1	11.1	Summaries, Publications, Orthologs
2	APRT	adenine phosphoribosyltransferase	11.1	Publications
3	ADSL	adenylosuccinate lyase	11.1
4	PNP	purine nucleoside phosphorylase	11.1
5	XDH	xanthine dehydrogenase	11.1	Publications
6	MAOA	monoamine oxidase A	11.1
7	SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	11.1
8	PRPS1L1	phosphoribosyl pyrophosphate synthetase 1-like 1	11.0
9	PRPS2	phosphoribosyl pyrophosphate synthetase 2	11.0
10	PRPS1	phosphoribosyl pyrophosphate synthetase 1	11.0
11	BRAP	BRCA1 associated protein	11.0
12	PPAT	phosphoribosyl pyrophosphate amidotransferase	11.0
13	PRTFDC1	phosphoribosyl transferase domain containing 1	11.0	Orthologs
14	NGF	nerve growth factor (beta polypeptide)	11.0	Publications

Pathways related to lesch-nyhan syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Purine catabolism38	9.9	XDH, PNP
2	ATP/ITP metabolism41	9.5	ADSL, PNP, HPRT1, APRT
3	ATP/ITP metabolism10	9.4	ADSL, PNP, HPRT1, APRT
4	Purine metabolism38	9.2	ADSL, PPAT, HPRT1, APRT
5	Pentose phosphate pathway20	9.1	PRPS2, PRPS1, PRPS1L1
6	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	8.9	HPRT1, PPAT, PRPS1
7	Purine metabolism20	7.4	XDH, ADSL, PRPS2, PRPS1, PRPS1L1, PNP
8	Metabolic pathways20	7.1	ADSL, PRPS2, PRPS1, PRPS1L1, PNP, PPAT

Compounds related to lesch-nyhan syndrome according to GeneDecks:

(show top 50)    (show all 84)

id	Compound	Score	Top Affiliating Genes
1	Alpha-Phosphoribosylpyrophosphoric Acid9 9	11.3	HPRT1, APRT
2	9-deazaguanine32 9 9	12.3	PNP, HPRT1
3	8-azaguanine32 9 9	12.3	PNP, HPRT1
4	6-thiouric acid32	10.3	HPRT1, XDH
5	febuxostat32 42	11.2	PNP, XDH
6	ethyl methanesulfonate32	10.1	HPRT1, APRT
7	2,8-dihydroxyadenine32	10.1	XDH, APRT, HPRT1
8	monamine32	10.1	MAOA, SLC6A3
9	allopurinol32 9 9	12.1	HPRT1, APRT, XDH
10	p-chloroamphetamine32	10.0	SLC6A3, MAOA
11	thiopurine32	10.0	XDH, HPRT1, PNP
12	carbon-1132	10.0	SLC6A3, MAOA
13	molybdenum32 18	11.0	ADSL, PNP, XDH
14	nomifensine32 9 9	12.0	SLC6A3, MAOA
15	MMDA9 9	10.9	SLC6A3, MAOA
16	4-Methoxyamphetamine9 9	10.9	SLC6A3, MAOA
17	inosine monophosphate32	9.9	ADSL, PNP, HPRT1, APRT
18	mercaptopurine34 9 9	11.8	HPRT1, XDH
19	6 thioguanine32	9.8	HPRT1, PNP, NGF
20	inosine32 18	10.8	XDH, APRT, HPRT1, PNP
21	phentermine32 9 9	11.8	SLC6A3, MAOA
22	ephedrine32 9 9	11.8	MAOA, SLC6A3
23	nucleoside32	9.8	ADSL, PNP, HPRT1, APRT
24	selegiline32 9 9	11.6	MAOA, NGF, SLC6A3
25	cysteine32	9.6	PNP, PPAT, XDH
26	carbon32	9.6	SLC6A3, PNP, HPRT1, MAOA
27	fluoxetine32 34 9 9	12.6	MAOA, NGF, SLC6A3
28	5-methylthioadenosine32	9.6	ADSL, NGF, PNP, APRT
29	desipramine32 34 9 9	12.6	SLC6A3, NGF, MAOA
30	purine nucleoside32	9.6	ADSL, PNP, HPRT1, APRT, XDH
31	6-hydroxydopamine32	9.6	SLC6A3, NGF, MAOA
32	xanthine32 18	10.6	ADSL, PNP, HPRT1, APRT, XDH
33	adenine32 9 18 9	12.5	ADSL, PNP, HPRT1, APRT, XDH
34	mptp32	9.5	MAOA, NGF, SLC6A3
35	azathioprine32 34 9 9	12.5	NGF, PNP, HPRT1, XDH
36	adenylosuccinate32	9.5	ADSL, PNP, PPAT, APRT
37	n-methyl-n-nitrosourea32	9.3	HPRT1, PPAT
38	guanine32 9 18 9	12.2	PNP, PPAT, HPRT1, APRT, XDH
39	thymidine32 18	10.2	ADSL, NGF, PNP, HPRT1, APRT
40	adenylate32	9.1	APRT, HPRT1, PNP, NGF, ADSL
41	h2o232	9.1	SLC6A3, PNP, HPRT1, MAOA, APRT, XDH
42	creatinine32	9.0	ADSL, SLC6A3, NGF, PNP, HPRT1, APRT
43	Adenosine monophosphate9 18 9	10.9	ADSL, PRPS2, PRPS1, PRPS1L1, HPRT1, APRT
44	phosphoric acid32 18	9.9	PRPS2, PRPS1, PPAT, HPRT1, APRT
45	pyrophosphate32 18	9.6	PRPS2, PRPS1, PNP, PPAT, HPRT1, APRT
46	uric acid32 18	9.5	ADSL, PRPS1, PNP, PPAT, HPRT1, APRT
47	purine32 18	9.5	ADSL, PRPS1, PNP, PPAT, HPRT1, APRT
48	hypoxanthine32 9 18 9	11.4	ADSL, NGF, PNP, PPAT, HPRT1, APRT
49	glutamate32	8.3	ADSL, SLC6A3, NGF, PNP, PPAT, HPRT1
50	prpp32	8.0	APRT, ADSL, PRPS2, PRPS1, PRPS1L1, PNP

Cellular components related to lesch-nyhan syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	8.0	XDH, APRT, HPRT1, PPAT, PNP, PRPS1

Biological processes related to lesch-nyhan syndrome according to GeneDecks:

(show all 21)

id	Name	GO ID	Score	Top Affiliating Genes
1	purine ribonucleoside salvage	GO:006166	10.2	HPRT1, APRT
2	dopamine catabolic process	GO:042420	10.0	SLC6A3, MAOA
3	grooming behavior	GO:007625	10.0	APRT, HPRT1
4	purine-containing compound salvage	GO:043101	10.0	PNP, HPRT1, APRT
5	urate biosynthetic process	GO:034418	10.0	PRPS1, PNP
6	purine nucleotide catabolic process	GO:006195	10.0	PNP, XDH
7	neurotransmitter biosynthetic process	GO:042136	9.7	MAOA, SLC6A3
8	de novo IMP biosynthetic process	GO:006189	9.7	PPAT, ADSL
9	GMP catabolic process	GO:046038	9.7	PRTFDC1, HPRT1
10	AMP biosynthetic process	GO:006167	9.6	ADSL, PRPS2, PRPS1
11	guanine salvage	GO:006178	9.6	PRTFDC1, HPRT1
12	response to nicotine	GO:035094	9.6	NGF, SLC6A3
13	5-phosphoribose 1-diphosphate biosynthetic process	GO:006015	9.5	PRPS1L1, PRPS1, PRPS2
14	purine ribonucleoside monophosphate biosynthetic process	GO:009168	9.3	PPAT, ADSL
15	lactation	GO:007595	9.2	XDH, APRT, PPAT, SLC6A3
16	purine nucleotide biosynthetic process	GO:006164	9.2	ADSL, PRPS1, PPAT, HPRT1
17	organ regeneration	GO:031100	9.1	PPAT, PRPS1, PRPS2
18	nucleoside metabolic process	GO:009116	8.9	PRPS2, PRPS1, PRPS1L1, PPAT
19	nucleobase-containing small molecule metabolic process	GO:055086	8.8	ADSL, PNP, PPAT, HPRT1, APRT, XDH
20	purine nucleobase metabolic process	GO:006144	8.4	XDH, ADSL, PRPS1, PNP, PPAT, HPRT1
21	small molecule metabolic process	GO:044281	8.0	ADSL, PRPS1, PNP, PPAT, HPRT1, MAOA

Molecular functions related to lesch-nyhan syndrome according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	ADP binding	GO:043531	9.6	PRPS1, PRPS2
2	AMP binding	GO:016208	9.5	APRT, PRPS1, PRPS2
3	ribose phosphate diphosphokinase activity	GO:004749	9.4	PRPS1L1, PRPS1, PRPS2
4	hypoxanthine phosphoribosyltransferase activity	GO:004422	9.3	HPRT1, PRTFDC1
5	kinase activity	GO:016301	8.9	PRPS2, PRPS1, PRPS1L1
6	magnesium ion binding	GO:000287	8.2	PRTFDC1, PRPS2, PRPS1, PRPS1L1, HPRT1
7	protein homodimerization activity	GO:042803	7.9	PRTFDC1, PRPS2, PRPS1, PRPS1L1, HPRT1, XDH