MCID: LSC001
MIFTS: 60

Lesch-Nyhan Syndrome malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases

Aliases & Classifications for Lesch-Nyhan Syndrome

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 50 11 69 22 46 23 24 47 13 52 68 12 48 37 66
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 11 46 24
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 22 23
Lesch-Nyhan Disease 22 23 24
Hgprt Deficiency 22 23 24
Hprt Deficiency 22 46 23
Lns 46 24 68
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 24
X-Linked Hyperuricemia 11 24
Lesch Nyhan Disease 46 25
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 52
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 52
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 24
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 46
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 24
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 11
Deficiency of Hypoxanthine Phosphoribosyltransferase 24
Hypoxanthine Phosphoribosyltransferase Deficiency 24
 
Deficiency of Guanine Phosphoribosyltransferase 24
Choreoathetosis Self-Mutilation Syndrome 24
X-Linked Uric Aciduria Enzyme Defect 24
Deficiency of Imp Pyrophosphorylase 11
Juvenile Hyperuricemia Syndrome 24
Primary Hyperuricemia Syndrome 24
X-Linked Primary Hyperuricemia 24
Hprt Deficiency, Complete 46
Complete Hprt Deficiency 24
Hprt Complete Deficiency 52
Hprt Deficiency Grade Iv 52
Lesch - Nyhan Syndrome 11
Total Hprt Deficiency 24
Lesch Nyhan Syndrome 46
Hg-Prt Deficiency 11
Hprt1 Deficiency 46
Lnd 24

Characteristics:

Orphanet epidemiological data:

52
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy

HPO:

62
lesch-nyhan syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300322
Disease Ontology11 DOID:1919
ICD1028 E79.1, E79.0
MeSH37 D007926
NCIt43 C61255
Orphanet52 ORPHA510
ICD10 via Orphanet29 E79.1
MESH via Orphanet38 D007926
UMLS via Orphanet67 C0023374

Summaries for Lesch-Nyhan Syndrome

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NIH Rare Diseases:46 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 hypoxanthine guanine phosphoribosyltransferase deficiency, is related to hereditary hyperuricemia and neuroblastoma, 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 Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include kidney, skin and brain, and related mouse phenotypes are muscle and integument.

Genetics Home Reference:24 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:47 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.

UniProtKB/Swiss-Prot:68 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Wikipedia:69 Lesch–Nyhan syndrome (LNS), also known as Nyhan\'s syndrome and juvenile gout, is a rare inherited... more...

Description from OMIM:50 300322

GeneReviews summary for NBK1149

Related Diseases for Lesch-Nyhan Syndrome

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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:

 52 (show all 11)
  • renal insufficiency
  • behavioral abnormality
  • hematuria
  • intellectual disability, mild
  • spasticity
  • anemia
  • gout
  • hyperuricemia
  • intellectual disability, moderate
  • hemiplegia/hemiparesis
  • abnormality of movement

HPO human phenotypes related to Lesch-Nyhan Syndrome:

(show all 28)
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 podagra HP:0001854
22 megaloblastic anemia HP:0001889
23 vomiting HP:0002013
24 dysphagia HP:0002015
25 abnormality of extrapyramidal motor function HP:0002071
26 opisthotonus HP:0002179
27 hyperuricosuria HP:0003149
28 short stature HP:0004322

UMLS symptoms related to Lesch-Nyhan Syndrome:


vomiting, opisthotonus, extrapyramidal sign

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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Drugs for Lesch-Nyhan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ecopipamPhase 3, Phase 17
2
DopaminePhase 3, Phase 1367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan DiseaseTerminatedNCT01751802Phase 3
2Trial of Kuvan in Lesch-Nyhan DiseaseWithdrawnNCT00935753Phase 2, Phase 3
3Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan DiseaseCompletedNCT00004314Phase 2
4Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan DiseaseCompletedNCT01065558Phase 1

Search NIH Clinical Center for Lesch-Nyhan Syndrome


Cochrane evidence based reviews: 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 Syndrome25 23 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

34
Kidney, Skin, Brain, Globus pallidus, Liver, Spinal cord, Myeloid

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0HPRT1, NGF, RAPGEF4, SLC6A3, XDH
2MP:00107717.8APRT, FGA, HPRT1, NGF, SLC6A3, XDH
3MP:00053797.8FGA, HPRT1, RAPGEF4, SLC6A3, XDH
4MP:00053766.9APRT, FGA, HPRT1, NGF, RAPGEF4, SLC6A3
5MP:00107686.9ADSL, APRT, FGA, HPRT1, NGF, SLC6A3

Publications for Lesch-Nyhan Syndrome

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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. (27079129)
2016
2
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. (25965333)
2015
3
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. (24530950)
2014
4
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. (22350962)
2012
5
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. (20695874)
2010
6
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
7
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. (17065065)
2006
8
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. (16138673)
2005
9
Self-mutilation behaviour in Lesch-Nyhan syndrome. (16138897)
2005
10
Functional analysis of self-injurious behavior in an adult with Lesch-Nyhan syndrome. (11961912)
2002
11
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)
2001
12
Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndrome. (10854773)
2000
13
A review of behavioral treatments used for Lesch-Nyhan syndrome. (10804680)
2000
14
Polysomnographic studies of Lesch-Nyhan syndrome. (9865540)
1998
15
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. (9211189)
1997
16
Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family. (8851475)
1995
17
Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. (8163858)
1994
18
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (8381385)
1993
19
Lesch-Nyhan syndrome in a girl. (1434518)
1992
20
Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. (1393404)
1992
21
A female patient with Lesch-Nyhan syndrome. (1612215)
1992
22
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report. (1561565)
1992
23
Serotonin-GABA treatment is hypothesized for self-injury in Lesch-Nyhan syndrome. (1491633)
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
Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome. (2573408)
1989
29
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)
1988
30
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (3076300)
1988
31
High activities of erythrocyte glutathione peroxidase in patients with the Lesch-Nyhan syndrome. (3239456)
1988
32
Prevention of xanthine stone formation by augmented dose of allopurinol in the Lesch-Nyhan syndrome. (3580782)
1987
33
Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome). (2866676)
1985
34
Xanthine calculi in the Lesch-Nyhan syndrome. (6864903)
1983
35
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. (6853716)
1983
36
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. (7111674)
1982
37
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. (6117011)
1981
38
Protein variations associated with Lesch-Nyhan syndrome. (6947238)
1981
39
Adenosine metabolism in permanent lymphocyte lines and in erythrocytes of patients with the Lesch-Nyhan syndrome. (855718)
1977
40
Behavior in the Lesch--Nyhan syndrome. (1086851)
1976
41
Letter: Self mutilation in Lesch-Nyhan syndrome. (4132504)
1974
42
The Lesch-Nyhan syndrome. (4219709)
1974
43
In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome. (4763410)
1973
44
The Lesch-Nyhan syndrome: report of three cases. (4502719)
1972
45
Metabolic implications of the Lesch-Nyhan syndrome. (4502722)
1972
46
Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome. (5024037)
1972
47
Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens. (5467237)
1970
48
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. (5658470)
1968
49
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. (5658468)
1968
50
Seminars on Lesch-Nyhan syndrome. Discussion of enzymology and biochemistry, A. (5658473)
1968

Variations for Lesch-Nyhan Syndrome

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

68 (show all 35)
id Symbol AA change Variation ID SNP ID
1HPRT1p.Val8GlyVAR_006751
2HPRT1p.Gly16AspVAR_006752
3HPRT1p.Leu41ProVAR_006756rs137852480
4HPRT1p.Ile42PheVAR_006757
5HPRT1p.Ile42ThrVAR_006758
6HPRT1p.Arg45LysVAR_006760rs137852491
7HPRT1p.Ala50ValVAR_006762
8HPRT1p.Ala50ProVAR_006763
9HPRT1p.Arg51ProVAR_006765
10HPRT1p.Met54LeuVAR_006769
11HPRT1p.Met57ThrVAR_006770rs137852495
12HPRT1p.Gly70GluVAR_006773rs137852487
13HPRT1p.Gly71ArgVAR_006774rs137852488
14HPRT1p.Phe74LeuVAR_006775rs137852481
15HPRT1p.Val130AspVAR_006780rs137852483
16HPRT1p.Leu131SerVAR_006781
17HPRT1p.Ile132ThrVAR_006783
18HPRT1p.Met143LysVAR_006785rs137852496
19HPRT1p.Ser162ArgVAR_006788
20HPRT1p.Pro176LeuVAR_006790rs137852493
21HPRT1p.Asp177ValVAR_006791
22HPRT1p.Asp177TyrVAR_006792rs137852492
23HPRT1p.Asp194AsnVAR_006798rs267606863
24HPRT1p.Phe199ValVAR_006800rs137852486
25HPRT1p.Asp201TyrVAR_006803
26HPRT1p.His204AspVAR_006804rs137852490
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:

5 (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.325C> T (p.Gln109Ter)single nucleotide variantPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
12HPRT1NM_000194.2(HPRT1): c.610C> G (p.His204Asp)single nucleotide variantPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
13HPRT1NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys)single nucleotide variantPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
14HPRT1NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr)single nucleotide variantPathogenicrs137852492GRCh37Chr X, 133632463: 133632463
15HPRT1HPRT, 2-BP DEL, GTdeletionPathogenic
16HPRT1HPRT, 1-BP DEL, TTA-TAdeletionPathogenic
17HPRT1HPRT, 1-BP DEL, TTG-TGdeletionPathogenic
18HPRT1HPRT, 40-BP DELdeletionPathogenic
19HPRT1HPRT, IVS8DS, G-A, +5single nucleotide variantPathogenic
20HPRT1NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTTindelPathogenicrs672601245GRCh37Chr X, 133634056: 133634058
21HPRT1HPRT, IVS7DS, G-A, +5single nucleotide variantPathogenic
22HPRT1HPRT, IVS1AS, A-T, -2single nucleotide variantPathogenic
23HPRT1NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu)single nucleotide variantPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
24HPRT1NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter)single nucleotide variantPathogenicrs137852494GRCh37Chr X, 133609227: 133609227
25HPRT1NM_000194.2(HPRT1): c.428T> A (p.Met143Lys)single nucleotide variantPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
26HPRT1NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter)single nucleotide variantPathogenicrs137852497GRCh37Chr X, 133632442: 133632442
27HPRT1HPRT, EX2DELdeletionPathogenic
28HPRT1HPRT, EX4-9DELdeletionPathogenic
29HPRT1NG_012329.1: g.(38034_38038)_(46028_46032)deldeletionPathogenicGRCh38Chr X, 134493178: 134501176
30HPRT1HPRT, EX9DELdeletionPathogenic
31HPRT1HPRT, DELdeletionPathogenic
32HPRT1HPRT,1-BP INS, 207GinsertionPathogenic
33HPRT1HPRT, INV/DEL, EX6-9deletionPathogenic
34HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenic
35HPRT1HPRT CHERMSIDEdeletionPathogenic
36HPRT1HPRT COORPAROOinsertionPathogenic
37HPRT1NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp)single nucleotide variantPathogenicrs137852503GRCh37Chr X, 133627554: 133627554
38HPRT1NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter)single nucleotide variantPathogenicrs137852505GRCh37Chr X, 133627594: 133627594
39HPRT1NM_000194.2(HPRT1): c.-707_27+2236deldeletionPathogenicGRCh38Chr X, 134459605: 134462608
40HPRT1NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs)duplicationPathogenicrs786200980GRCh37Chr X, 133609288: 133609288

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12592330133461536133462037DeletionHPRT1Lesch-Nyhan syndrome

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 pathwaysScoreTop Affiliating Genes
19.7ADSL, HPRT1
2
Show member pathways
9.4APRT, HPRT1, PNP
3
Show member pathways
9.4FGA, RAPGEF4
4
Show member pathways
8.6ADSL, APRT, HPRT1, PNP, XDH
5
Show member pathways
8.6ADSL, APRT, HPRT1, PNP, XDH

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
1cytosolGO:00058298.0ADSL, APRT, HPRT1, PNP, RAPGEF4, XDH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:004608310.3APRT, HPRT1
2adenine salvageGO:000616810.3APRT, HPRT1
3purine ribonucleoside salvageGO:000616610.3APRT, HPRT1
4purine nucleotide biosynthetic processGO:000616410.2ADSL, HPRT1
5purine nucleotide catabolic processGO:000619510.1PNP, XDH
6grooming behaviorGO:00076259.7APRT, HPRT1
7purine-containing compound salvageGO:00431019.7APRT, HPRT1, PNP
8locomotory behaviorGO:00076269.5HPRT1, SLC6A3
9activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.4NGF, XDH
10lactationGO:00075959.2APRT, SLC6A3, XDH

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

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:00081449.5PNP, SLC6A3

Sources for Lesch-Nyhan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet