LNS
MCID: LSC001
MIFTS: 61

Lesch-Nyhan Syndrome (LNS) 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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 52 11 71 23 48 24 25 49 54 70 12 50 39 13 68
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 11 48 25
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 23 24
Lesch-Nyhan Disease 23 24 25
Hgprt Deficiency 23 24 25
Hprt Deficiency 23 48 24
Lns 48 25 70
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 25
X-Linked Hyperuricemia 11 25
Lesch Nyhan Disease 48 27
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 54
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 54
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 25
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 48
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 25
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 11
Deficiency of Hypoxanthine Phosphoribosyltransferase 25
Hypoxanthine Phosphoribosyltransferase Deficiency 25
 
Deficiency of Guanine Phosphoribosyltransferase 25
Choreoathetosis Self-Mutilation Syndrome 25
X-Linked Uric Aciduria Enzyme Defect 25
Deficiency of Imp Pyrophosphorylase 11
Juvenile Hyperuricemia Syndrome 25
Primary Hyperuricemia Syndrome 25
X-Linked Primary Hyperuricemia 25
Hprt Deficiency, Complete 48
Hprt Deficiency Grade Iv 54
Hprt Complete Deficiency 54
Complete Hprt Deficiency 25
Lesch - Nyhan Syndrome 11
Total Hprt Deficiency 25
Lesch Nyhan Syndrome 48
Hg-Prt Deficiency 11
Hprt1 Deficiency 48
Lnd 25

Characteristics:

Orphanet epidemiological data:

54
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy

HPO:

64
lesch-nyhan syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 300322
Disease Ontology11 DOID:1919
ICD1030 E79.1, E79.0
MeSH39 D007926
NCIt45 C61255
Orphanet54 ORPHA510
MESH via Orphanet40 D007926
UMLS via Orphanet69 C0023374
ICD10 via Orphanet31 E79.1

Summaries for Lesch-Nyhan Syndrome

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NINDS:49 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

MalaCards based summary: Lesch-Nyhan Syndrome, also known as hypoxanthine guanine phosphoribosyltransferase deficiency, is related to hprt-related gout and hereditary hyperuricemia, and has symptoms including vomiting, vomiting and opisthotonus. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Nucleotide Metabolism. Affiliated tissues include kidney, skin and brain, and related mouse phenotypes are integument and muscle.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Wikipedia:71 Lesch–Nyhan syndrome (LNS), also known as Nyhan syndrome and juvenile gout, is a rare inherited... more...

Description from OMIM:52 300322

GeneReviews 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 & Phenotypes for Lesch-Nyhan Syndrome

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Symptoms by clinical synopsis from OMIM:

300322

Clinical features from OMIM:

300322

Human phenotypes related to Lesch-Nyhan Syndrome:

 54 64 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Frequent (79-30%) HP:0000083
2 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
3 hematuria64 54 Frequent (79-30%) HP:0000790
4 intellectual disability, mild64 54 Very frequent (99-80%) HP:0001256
5 spasticity64 54 Very frequent (99-80%) HP:0001257
6 anemia64 54 Frequent (79-30%) HP:0001903
7 gout64 54 Very frequent (99-80%) HP:0001997
8 hyperuricemia54 Very frequent (99-80%)
9 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
10 hemiplegia/hemiparesis64 54 Very frequent (99-80%) HP:0004374
11 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
12 testicular atrophy64 HP:0000029
13 nephrolithiasis64 HP:0000787
14 intellectual disability64 HP:0001249
15 muscular hypotonia64 HP:0001252
16 dysarthria64 HP:0001260
17 choreoathetosis64 HP:0001266
18 motor delay64 HP:0001270
19 dystonia64 HP:0001332
20 hyperreflexia64 HP:0001347
21 podagra64 HP:0001854
22 megaloblastic anemia64 HP:0001889
23 vomiting64 HP:0002013
24 dysphagia64 HP:0002015
25 abnormality of extrapyramidal motor function64 HP:0002071
26 opisthotonus64 HP:0002179
27 hyperuricosuria64 HP:0003149
28 short stature64 HP:0004322

UMLS symptoms related to Lesch-Nyhan Syndrome:


vomiting, opisthotonus, abnormality of extrapyramidal motor function

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4APP, APRT, HPRT1, NGF, SLC6A3, XDH
2MP:00053698.1APP, HPRT1, NGF, RAPGEF4, SLC6A3, XDH
3MP:00030127.9APP, HPRT1, NGF, RAPGEF4, XDH
4MP:00053767.9APP, APRT, HPRT1, NGF, RAPGEF4, SLC6A3
5MP:00107687.7ADSL, APP, APRT, HPRT1, NGF, SLC6A3

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 3, Phase 1383651-61-6, 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
2Neurotransmitter AgentsPhase 3, Phase 118340
3Psychotropic DrugsPhase 3, Phase 16430
4ecopipamPhase 3, Phase 17
5Tranquilizing AgentsPhase 3, Phase 14265
6Dopamine AntagonistsPhase 3, Phase 11093
7Central Nervous System DepressantsPhase 3, Phase 113403
8Dopamine AgentsPhase 3, Phase 13836
9Antipsychotic AgentsPhase 3, Phase 12401

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 Syndrome27 24 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

36
Kidney, Skin, Brain, Globus pallidus, Liver, Spinal cord, Myeloid

Publications for Lesch-Nyhan Syndrome

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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 377)
idTitleAuthorsYear
1
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. (28357186)
2017
2
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. (27379977)
2016
3
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. (27920633)
2016
4
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. (27079129)
2016
5
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. (27420966)
2016
6
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. (27365935)
2016
7
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. (27833236)
2016
8
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. (26398526)
2015
9
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. (25965333)
2015
10
Lesch-Nyhan Syndrome in an Indian Child. (26120162)
2015
11
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. (24680827)
2014
12
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. (24530950)
2014
13
Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. (24804781)
2014
14
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. (24503445)
2014
15
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. (23597535)
2013
16
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. (23063963)
2013
17
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome. (23804752)
2013
18
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. (23321622)
2013
19
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. (22350962)
2012
20
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. (22766437)
2012
21
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. (22183764)
2012
22
An unanticipated difficult airway in Lesch-Nyhan syndrome. (22557752)
2012
23
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. (21940691)
2012
24
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. (22132985)
2011
25
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. (21331772)
2011
26
Clinical utility gene card for: Lesch-Nyhan syndrome. (20648055)
2011
27
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. (20695874)
2010
28
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. (20874729)
2010
29
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. (21078074)
2010
30
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. (18992978)
2009
31
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
32
Lesch-Nyhan syndrome: a case report. (18974538)
2008
33
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. (18520986)
2008
34
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. (18287946)
2008
35
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. (17680274)
2007
36
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. (18067674)
2007
37
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. (17062485)
2006
38
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. (16773422)
2006
39
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. (17065065)
2006
40
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)
2006
41
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. (16537260)
2006
42
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. (16903443)
2006
43
Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome. (15838698)
2005
44
Self-mutilation behaviour in Lesch-Nyhan syndrome. (16138897)
2005
45
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. (16138673)
2005
46
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. (15711436)
2005
47
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. (16530134)
2005
48
Self-mutilation in the Lesch-Nyhan syndrome. (16344506)
2005
49
Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. (15571224)
2004
50
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. (15140374)
2004

Variations for Lesch-Nyhan Syndrome

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

70 (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 42)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1HPRT CHICAGOinsertionPathogenic
2HPRT1HPRT CONNERSVILLEdeletionPathogenic
3HPRT1NM_ 000194.2(HPRT1): c.122T> C (p.Leu41Pro)SNVPathogenicrs137852480GRCh37Chr 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)SNVPathogenicrs137852481GRCh37Chr X, 133609298: 133609298
6HPRT1NM_ 000194.2(HPRT1): c.580G> A (p.Asp194Asn)SNVPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
7HPRT1HPRT MICHIGANdeletionPathogenic
8HPRT1NM_ 000194.2(HPRT1): c.389T> A (p.Val130Asp)SNVPathogenicrs137852483GRCh37Chr X, 133624222: 133624222
9HPRT1NM_ 000194.2(HPRT1): c.595T> G (p.Phe199Val)SNVPathogenicrs137852486GRCh37Chr X, 133632700: 133632700
10HPRT1NM_ 000194.2(HPRT1): c.209G> A (p.Gly70Glu)SNVPathogenicrs137852487GRCh37Chr X, 133609285: 133609285
11HPRT1NM_ 000194.2(HPRT1): c.325C> T (p.Gln109Ter)SNVPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
12HPRT1NM_ 000194.2(HPRT1): c.610C> G (p.His204Asp)SNVPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
13HPRT1NM_ 000194.2(HPRT1): c.134G> A (p.Arg45Lys)SNVPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
14HPRT1NM_ 000194.2(HPRT1): c.529G> T (p.Asp177Tyr)SNVPathogenicrs137852492GRCh37Chr 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, +5SNVPathogenic
20HPRT1NM_ 000194.2(HPRT1): c.610-4_ 610-2delATAinsTTTindelPathogenicrs672601245GRCh37Chr X, 133634056: 133634058
21HPRT1HPRT, IVS7DS, G-A, +5SNVPathogenic
22HPRT1HPRT, IVS1AS, A-T, -2SNVPathogenic
23HPRT1NM_ 000194.2(HPRT1): c.527C> T (p.Pro176Leu)SNVPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
24HPRT1NM_ 000194.2(HPRT1): c.151C> T (p.Arg51Ter)SNVPathogenicrs137852494GRCh37Chr X, 133609227: 133609227
25HPRT1NM_ 000194.2(HPRT1): c.428T> A (p.Met143Lys)SNVPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
26HPRT1NM_ 000194.2(HPRT1): c.508C> T (p.Arg170Ter)SNVPathogenicrs137852497GRCh37Chr 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)SNVPathogenicrs137852503GRCh37Chr X, 133627554: 133627554
38HPRT1NM_ 000194.2(HPRT1): c.459T> G (p.Tyr153Ter)SNVPathogenicrs137852505GRCh37Chr 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
41HPRT1NM_ 000194.2(HPRT1): c.580G> C (p.Asp194His)SNVPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
42HPRT1NM_ 000194.2(HPRT1): c.384+1G> ASNVPathogenicrs398123240GRCh37Chr X, 133620561: 133620561

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1259233X133461536133462037DeletionHPRT1Lesch-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
19.7HPRT1, XDH
29.5ADSL, HPRT1
3
Show member pathways
9.4APRT, HPRT1, PNP
4
Show member pathways
9.2APP, NGF
5
Show member pathways
8.4ADSL, APRT, HPRT1, PNP, XDH
6
Show member pathways
8.4ADSL, 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:00058297.1ADSL, APP, APRT, HPRT1, PNP, RAPGEF4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adenine metabolic processGO:004608310.4APRT, HPRT1
2adenine salvageGO:000616810.4APRT, HPRT1
3grooming behaviorGO:000762510.4APRT, HPRT1
4purine ribonucleoside salvageGO:000616610.1APRT, HPRT1
5purine nucleotide catabolic processGO:000619510.0PNP, XDH
6purine nucleotide biosynthetic processGO:00061649.9ADSL, HPRT1
7nucleoside metabolic processGO:00091169.9APRT, HPRT1, PNP
8lactationGO:00075959.8APRT, SLC6A3, XDH
9purine-containing compound salvageGO:00431019.4APRT, HPRT1, PNP
10locomotory behaviorGO:00076269.3APP, HPRT1, SLC6A3

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

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:000814410.2PNP, SLC6A3
2catalytic activityGO:00038249.7ADSL, PNP, XDH
3transferase activity, transferring glycosyl groupsGO:00167579.4APRT, HPRT1, PNP
4receptor bindingGO:00051029.3APP, NGF, SLC6A3

Sources for Lesch-Nyhan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet