MCID: LSC001
MIFTS: 69

Lesch-Nyhan Syndrome malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases categories

Aliases & Classifications for Lesch-Nyhan Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Lesch-Nyhan Syndrome, Aliases & Descriptions:

Name: Lesch-Nyhan Syndrome 45 9 10 63 19 41 21 42 11 43 47 60
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 9 63 21
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 9 41 21
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 9 19 41
Lesch Nyhan Disease 41 20 22
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 41 47
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 41 47
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 63 21
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 63 21
X-Linked Uric Aciduria Enzyme Defect 63 21
Juvenile Hyperuricemia Syndrome 63 21
X-Linked Primary Hyperuricemia 63 21
Primary Hyperuricemia Syndrome 63 21
Hprt Complete Deficiency 41 47
Complete Hprt Deficiency 63 21
Hprt Deficiency Grade Iv 41 47
X-Linked Hyperuricemia 9 21
Total Hprt Deficiency 63 21
Lesch-Nyhan Disease 19 21
Hgprt Deficiency 19 21
 
Hprt Deficiency 19 41
Lns 41 21
Hprt - Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 63
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 41
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency 41
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 9
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 9
Hprt Deficiency, Complete 41
Lesch - Nyhan Syndrome 9
Lesch Nyhan Syndrome 41
Hg-Prt Deficiency 9
Hprt1 Deficiency 41
Lnd 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy


External Ids:

OMIM45 300322
Disease Ontology9 DOID:1919
NCIt38 C61255
MeSH33 D007926
Orphanet47 510
MESH via Orphanet34 D007926
ICD10 via Orphanet26 E79.1
UMLS via Orphanet61 C0023374
ICD1025 E79.0, E79.1

Summaries for Lesch-Nyhan Syndrome

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NIH Rare Diseases:41 Lesch nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. it occurs almost exclusively in males. signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). people with lesch nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. lesch nyhan syndrome is caused by changes (mutations) in the hprt1 gene and is inherited in an x-linked recessive manner. treatment is symptomatic and supportive. affected people often do not survive past the first or second decade of life due to renal failure. last updated: 1/13/2015

MalaCards based summary: Lesch-Nyhan Syndrome, also known as complete hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to phosphoribosylpyrophosphate synthetase superactivity and xanthinuria, and has symptoms including behavioral abnormality, hypertonia and arthritis. 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, skin and brain, and related mouse phenotypes are integument and mortality/aging.

NINDS:42 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:63 Lesch?Nyhan syndrome (LNS), also known as Nyhan\'s syndrome, Kelley-Seegmiller syndrome, and juvenile... more...

Description from OMIM:45 300322

GeneReviews summary for lns

Related Diseases for Lesch-Nyhan Syndrome

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1phosphoribosylpyrophosphate synthetase superactivity31.6PRPS1
2xanthinuria31.3XDH, APRT
3hprt-related gout31.1HPRT1, APRT
4nephrolithiasis31.0APRT, XDH
5hyperuricemia31.0XDH, HPRT1, PRPS1, APRT
6mental retardation30.5MAOA, HPRT1, ADSL, NGF
7gout30.2APRT, PRPS2, HPRT1, PNP, XDH, PRPS1
8lung cancer30.1APRT, HPRT1, XDH, PPAT
9neuroblastoma10.6
10neuronitis10.5
11oppositional defiant disorder10.5SLC6A3
12pathological gambling10.5SLC6A3
13hypoxanthine guanine phosphoribosyltransferase partial deficiency10.5
14substance abuse10.4SLC6A3
15acute urate nephropathy10.4HPRT1, XDH
16molybdenum cofactor deficiency10.4XDH, PNP
17orotic aciduria10.3
18phenylketonuria10.3
19cerebral palsy10.3
20cerebritis10.3
21cervicitis10.3
22herpes simplex10.3
23hypothyroidism10.3
24pulmonary embolism10.3
25purine-pyrimidine metabolic disorder10.3
26neurologic diseases10.3
27athetosis10.3
28hereditary hyperuricemia10.3
29neonatal hypothyroidism10.3
30proteinuria10.3
31blindness10.3
32atlantoaxial subluxation10.3
33personality disorder10.3MAOA, SLC6A3
34adenosine deaminase deficiency10.3
35drug dependence10.3SLC6A3, MAOA
36conduct disorder10.3MAOA, SLC6A3
37antisocial personality disorder10.3SLC6A3, MAOA
38tetrahydrobiopterin deficiency10.3
39gilles de la tourette syndrome10.3SLC6A3, MAOA
40obsessive-compulsive disorder10.3MAOA, SLC6A3
41movement disease10.3HPRT1, SLC6A3
42immunodeficiency due to purine nucleoside phosphorylase deficiency10.3APRT, HPRT1, PRPS2
43primary hyperoxaluria10.2HPRT1, XDH, APRT
44anxiety disorder10.2MAOA, SLC6A3
45nicotine dependence, protection against10.2MAOA, HPRT1, SLC6A3
46malaria10.2HPRT1, XDH, PNP
47attention deficit-hyperactivity disorder10.2SLC6A3, MAOA
48vitiligo-associated multiple autoimmune disease susceptibility 110.2XDH, MAOA
49acute kidney failure10.2XDH, HPRT1
50central nervous system disease10.1NGF, 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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Symptoms by clinical synopsis from OMIM:

300322

Clinical features from OMIM:

300322

Symptoms:

 47 (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

HPO human phenotypes related to Lesch-Nyhan Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 hypertonia hallmark (90%) HP:0001276
3 arthritis hallmark (90%) HP:0001369
4 hyperuricemia hallmark (90%) HP:0002149
5 hemiplegia/hemiparesis hallmark (90%) HP:0004374
6 abnormality of movement hallmark (90%) HP:0100022
7 cognitive impairment hallmark (90%) HP:0100543
8 renal insufficiency typical (50%) HP:0000083
9 hematuria typical (50%) HP:0000790
10 anemia typical (50%) HP:0001903
11 testicular atrophy HP:0000029
12 nephrolithiasis HP:0000787
13 intellectual disability HP:0001249
14 muscular hypotonia HP:0001252
15 spasticity HP:0001257
16 dysarthria HP:0001260
17 choreoathetosis HP:0001266
18 motor delay HP:0001270
19 dystonia HP:0001332
20 hyperreflexia HP:0001347
21 x-linked recessive inheritance HP:0001419
22 gout (feet) HP:0001854
23 megaloblastic anemia HP:0001889
24 vomiting HP:0002013
25 dysphagia HP:0002015
26 abnormality of extrapyramidal motor function HP:0002071
27 opisthotonus HP:0002179
28 hyperuricosuria HP:0003149
29 short stature HP:0004322

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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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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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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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

31
Kidney, Skin, Brain, Liver, Globus pallidus, Spinal cord, Testes, Myeloid

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

35
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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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. (24530950)
2014
2
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. (24503445)
2014
3
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. (22350962)
2012
4
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. (21331772)
2011
5
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. (22132985)
2011
6
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. (18992978)
2009
7
Lesch-Nyhan syndrome: a case report. (18974538)
2008
8
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
9
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. (16537260)
2006
10
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)
2001
11
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome. (11783490)
2000
12
Gabapentin for self-injurious behavior in Lesch-Nyhan syndrome. (10371385)
1999
13
Relationship of dopamine to serotonin in the neonatal 6-OHDA rat model of Lesch-Nyhan syndrome. (10780253)
1999
14
Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome. (9670994)
1998
15
Polysomnographic studies of Lesch-Nyhan syndrome. (9865540)
1998
16
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. (9211189)
1997
17
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. (9288634)
1997
18
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA). (9088115)
1996
19
Cognitive functioning in Lesch-Nyhan syndrome. (7672468)
1995
20
Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. (8163858)
1994
21
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (8381385)
1993
22
Lesch-Nyhan syndrome in a girl. (1434518)
1992
23
Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. (1393404)
1992
24
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis. (1781404)
1991
25
Clinical quiz. Lesch-Nyhan syndrome. (1768590)
1991
26
Recurrent coma and Lesch-Nyhan syndrome. (1764145)
1991
27
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). (2624182)
1989
28
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism. (2502677)
1989
29
Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk. (2798351)
1989
30
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)
1988
31
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (3076300)
1988
32
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. (3148065)
1988
33
Effective behavioral treatment of self-biting by a child with Lesch-Nyhan syndrome. (3678633)
1987
34
Lesch-Nyhan syndrome: mutation, prevention, and therapy. (3330841)
1987
35
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. (7111674)
1982
36
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. (6117011)
1981
37
The orofacial manifestations of the Lesch-Nyhan syndrome. (6807929)
1981
38
Protein variations associated with Lesch-Nyhan syndrome. (6947238)
1981
39
The Lesch-Nyhan syndrome: report of case. (284029)
1979
40
The Lesch-Nyhan syndrome: a family study. (272569)
1977
41
Letter: Self mutilation in Lesch-Nyhan syndrome. (4132504)
1974
42
Growth retardation in the Lesch-Nyhan syndrome. (4363845)
1974
43
The Lesch-Nyhan syndrome: report of three cases. (4502719)
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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UniProtKB/Swiss-Prot genetic disease variations for Lesch-Nyhan Syndrome:

62 (show all 35)
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
29HPRT1p.Asp44TyrVAR_071611
30HPRT1p.Ala64ProVAR_071613
31HPRT1p.Leu65ProVAR_071614
32HPRT1p.Tyr72CysVAR_071615
33HPRT1p.Leu78GlnVAR_071616
34HPRT1p.Leu147ProVAR_071619
35HPRT1p.Lys159GluVAR_071620

Clinvar genetic disease variations for Lesch-Nyhan Syndrome:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1HPRT CHICAGOinsertionPathogenic
2HPRT1HPRT CONNERSVILLEdeletionPathogenic
3HPRT1NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro)single nucleotide variantPathogenicrs137852480GRCh37Chr X, 133607483: 133607483
4HPRT1NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs)deletionPathogenicrs387906428GRCh37Chr X, 133634093: 133634113
5HPRT1NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu)single nucleotide variantPathogenicrs137852481GRCh37Chr X, 133609298: 133609298
6HPRT1NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn)single nucleotide variantPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
7HPRT1HPRT MICHIGANdeletionPathogenic
8HPRT1NM_000194.2(HPRT1): c.389T> A (p.Val130Asp)single nucleotide variantPathogenicrs137852483GRCh37Chr X, 133624222: 133624222
9HPRT1NM_000194.2(HPRT1): c.595T> G (p.Phe199Val)single nucleotide variantPathogenicrs137852486GRCh37Chr X, 133632700: 133632700
10HPRT1NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu)single nucleotide variantPathogenicrs137852487GRCh37Chr X, 133609285: 133609285
11HPRT1NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg)single nucleotide variantPathogenicrs137852488GRCh37Chr 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 variantPathogenicrs137852494GRCh37Chr 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_000023.11deletionPathogenicGRCh38Chr X, 134493182: 134501172
31HPRT1HPRT, EX9DELdeletionPathogenic
32HPRT1HPRT, DELdeletionPathogenic
33HPRT1HPRT,1-BP INS, 207GinsertionPathogenic
34HPRT1HPRT, INV/DEL, EX6-9deletionPathogenic
35HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenic
36HPRT1HPRT CHERMSIDEdeletionPathogenic
37HPRT1HPRT COORPAROOinsertionPathogenic
38HPRT1NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp)single nucleotide variantPathogenicrs137852503GRCh37Chr X, 133627554: 133627554
39HPRT1NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter)single nucleotide variantPathogenicrs137852505GRCh37Chr 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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Search GEO for disease gene expression data for Lesch-Nyhan Syndrome.

Pathways for genes affiliated with Lesch-Nyhan Syndrome

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Pathways related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8XDH, MAOA
2
Show member pathways
Serotonin Transporter Activity36
9.8SLC6A3, MAOA
39.7PPAT, ADSL
4
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.3PRPS1, PPAT, HPRT1
5
Show member pathways
pentose phosphate pathway (non-oxidative branch)36
pentose phosphate pathway36
PRPP biosynthesis36
9.2PRPS2, PRPS1
6
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
9.1PPAT, APRT, HPRT1, PNP
78.7PRPS1, PRPS2, HPRT1, ADSL
8
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
8.5PPAT, XDH, PNP, APRT, ADSL, HPRT1
9
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
7.3XDH, PPAT, HPRT1, PRPS1, PRPS2, ADSL
10
Show member pathways
7.0HPRT1, PRPS2, PPAT, MAOA, PNP, PRPS1

Compounds for genes affiliated with Lesch-Nyhan Syndrome

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Compounds related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
19-deazaguanine43 1211.3PNP, HPRT1
25-Aminoimidazole-4-carboxamide2410.2ADSL, APRT
36-thiouric acid4310.2XDH, HPRT1
48-azaguanine43 1211.2PNP, HPRT1
52,8-dihydroxyadenine4310.1APRT, HPRT1, XDH
6febuxostat59 4311.0XDH, PNP
7allopurinol43 49 1212.0XDH, HPRT1, APRT
8didanosine43 49 1212.0HPRT1, XDH, PNP
9monamine4310.0SLC6A3, MAOA
10thiopurine4310.0XDH, PNP, HPRT1
11molybdenum43 2411.0PNP, XDH, ADSL
12p-chloroamphetamine439.9SLC6A3, MAOA
13carbon-11439.9SLC6A3, MAOA
14ethyl methanesulfonate439.9HPRT1, APRT
15inosine monophosphate439.8PNP, HPRT1, ADSL, APRT
16nomifensine43 28 1211.8SLC6A3, MAOA
17inosine43 2410.8APRT, PNP, XDH, HPRT1
18nucleoside439.7PNP, APRT, ADSL, HPRT1
196 thioguanine439.7NGF, PNP, HPRT1
20Phosphoribosyl-ATP249.6PRPS2, PRPS1
21adenylosuccinate439.5ADSL, APRT, PPAT, PNP
22carbon439.5PNP, HPRT1, MAOA, SLC6A3
23purine nucleoside439.5HPRT1, XDH, ADSL, APRT, PNP
24xanthine43 2410.5ADSL, XDH, PNP, APRT, HPRT1
25selegiline43 1210.5NGF, MAOA, SLC6A3
26adenine43 24 1211.5XDH, PNP, ADSL, APRT, HPRT1
27phentermine43 1210.5SLC6A3, MAOA
285-methylthioadenosine439.4NGF, APRT, ADSL, PNP
29desipramine43 49 1211.4SLC6A3, NGF, MAOA
306-hydroxydopamine439.4NGF, MAOA, SLC6A3
31fluoxetine43 49 28 1212.4NGF, MAOA, SLC6A3
32mptp439.4NGF, MAOA, SLC6A3
33azathioprine43 2 49 1212.4XDH, PNP, NGF, HPRT1
34guanine43 24 1211.2PPAT, XDH, PNP, APRT, HPRT1
35levodopa43 1210.1MAOA, NGF, SLC6A3
36adenylate439.1HPRT1, ADSL, PNP, NGF, APRT
37h2o2439.0MAOA, SLC6A3, HPRT1, APRT, PNP, XDH
38Adenosine monophosphate24 129.8ADSL, APRT, PRPS1, HPRT1, PRPS2
39norepinephrine43 24 1210.7SLC6A3, NGF, MAOA, FGA
40thymidine43 249.7PNP, HPRT1, FGA, NGF, APRT, ADSL
41Phosphoribosyl pyrophosphate248.6PRPS2, PRPS1, APRT, PPAT, HPRT1
42phosphoric acid43 249.6HPRT1, PRPS2, PPAT, APRT, PRPS1
43uric acid43 249.6PRPS1, ADSL, XDH, HPRT1, APRT, PNP
44purine43 249.6XDH, PNP, PPAT, APRT, ADSL, PRPS1
45hypoxanthine43 24 1210.4PNP, NGF, APRT, ADSL, HPRT1, PPAT
46creatinine438.3PNP, NGF, APRT, FGA, SLC6A3, HPRT1
47pyrophosphate43 249.3PRPS1, HPRT1, PRPS2, APRT, PNP, PPAT
48glutamate438.2HPRT1, MAOA, SLC6A3, ADSL, NGF, PPAT
49cysteine438.1SLC6A3, NGF, PNP, XDH, HPRT1, MAOA
50prpp438.1PPAT, PRPS1, ADSL, APRT, PNP, PRPS2

GO Terms for genes affiliated with Lesch-Nyhan Syndrome

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Cellular components related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ribose phosphate diphosphokinase complexGO:00021899.2PRPS2, PRPS1
2cytosolGO:00058297.3HPRT1, PPAT, XDH, PNP, APRT, ADSL

Biological processes related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1urate biosynthetic processGO:003441810.0PNP, PRPS1
2GMP catabolic processGO:004603810.0HPRT1, PRTFDC1
3purine nucleotide catabolic processGO:000619510.0XDH, PNP
4guanine salvageGO:000617810.0PRTFDC1, HPRT1
5hypoxanthine metabolic processGO:004610010.0HPRT1, PRTFDC1
6dopamine catabolic processGO:004242010.0MAOA, SLC6A3
7purine-containing compound salvageGO:004310110.0APRT, HPRT1, PNP
8GMP salvageGO:003226310.0PRTFDC1, HPRT1
9grooming behaviorGO:000762510.0APRT, HPRT1
10IMP salvageGO:00322649.9HPRT1, PRTFDC1
11de novo IMP biosynthetic processGO:00061899.8ADSL, PPAT
12neurotransmitter biosynthetic processGO:00421369.8MAOA, SLC6A3
13adenine salvageGO:00061689.8APRT, PRTFDC1, HPRT1
14purine ribonucleoside monophosphate biosynthetic processGO:00091689.8PPAT, ADSL
15purine ribonucleoside salvageGO:00061669.8APRT, PRTFDC1, HPRT1
165-phosphoribose 1-diphosphate biosynthetic processGO:00060159.5PRPS1, PRPS2
17response to nicotineGO:00350949.4NGF, SLC6A3
18purine nucleotide biosynthetic processGO:00061649.4PPAT, ADSL, PRPS1, HPRT1
19lactationGO:00075959.3PPAT, XDH, APRT, SLC6A3
20AMP biosynthetic processGO:00061679.3ADSL, PRPS1, PRPS2
21response to drugGO:00424939.2SLC6A3, PNP, NGF
22nucleobase-containing compound metabolic processGO:00061399.1PNP, PRPS2
23organ regenerationGO:00311009.0PRPS2, PPAT, PRPS1
24nucleobase-containing small molecule metabolic processGO:00550868.9APRT, PNP, PPAT, XDH, ADSL, HPRT1
25purine nucleobase metabolic processGO:00061448.5XDH, PPAT, PNP, APRT, ADSL, PRPS1
26small molecule metabolic processGO:00442818.1ADSL, PPAT, MAOA, HPRT1, PRPS1, XDH

Molecular functions related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hypoxanthine phosphoribosyltransferase activityGO:00044229.8HPRT1, PRTFDC1
2ribose phosphate diphosphokinase activityGO:00047499.2PRPS2, PRPS1
3GDP bindingGO:00190039.2PRPS2, PRPS1
4AMP bindingGO:00162089.2PRPS2, PRPS1, APRT
5ADP bindingGO:00435319.1PRPS1, PRPS2
6kinase activityGO:00163018.9PRPS2, PRPS1
7magnesium ion bindingGO:00002878.6PRPS1, PRPS2, PRTFDC1, HPRT1
8protein homodimerization activityGO:00428038.2XDH, PRPS1, PRPS2, PRTFDC1, HPRT1

Products for genes affiliated with Lesch-Nyhan Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lesch-Nyhan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet