LNS
MCID: LSC001
MIFTS: 64

Lesch-Nyhan Syndrome (LNS)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lesch-Nyhan Syndrome

MalaCards integrated aliases for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 57 11 19 42 52 58 75 73 28 12 53 5 43 14 38 71 31 33
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 24 19 58 28
Lns 57 19 42 73
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 11 42 33
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 11 19 42
Choreoathetosis Self-Mutilation Syndrome 19 42 33
X-Linked Hyperuricemia 11 42 33
Hprt Deficiency 57 24 58
Deficiency of Imp Pyrophosphorylase 11 33
Hprt Deficiency, Complete 57 19
Lesch-Nyhan Disease 42 33
Hprt1 Deficiency 57 58
Hgprt Deficiency 24 42
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency 33
Total Hgprt - [hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency 33
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 58
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 58
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 42
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency 57
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 42
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency 58
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 11
Deficiency of Hypoxanthine Phosphoribosyltransferase 42
Hypoxanthine Phosphoribosyltransferase Deficiency 42
Deficiency of Guanine Phosphoribosyltransferase 42
X-Linked Uric Aciduria Enzyme Defect 42
Complete Hprt Deficiency Complete 19
Juvenile Hyperuricemia Syndrome 42
Primary Hyperuricemia Syndrome 42
X-Linked Primary Hyperuricemia 42
Complete Hprt Deficiency 42
Hprt Complete Deficiency 58
Hprt Deficiency Grade Iv 58
Lesch - Nyhan Syndrome 11
Total Hprt Deficiency 42
Lesch Nyhan Syndrome 19
Lesch Nyhan Disease 19
Hg-Prt Deficiency 11
Hprt1 Disorders 24
Lnd 42

Characteristics:


Inheritance:

Lesch-Nyhan Syndrome: X-linked recessive 58 57
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: X-linked recessive 58

Prevelance:

1-9/1000000 58

Age Of Onset:

Lesch-Nyhan Syndrome: Infancy 58
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Lesch-Nyhan Syndrome

NINDS: 52 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 disorder of purine metabolism and hyperuricemia, hprt-related, and has symptoms including vomiting, abnormality of extrapyramidal motor function and opisthotonus. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Disease. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and bone marrow, and related phenotypes are spasticity and behavioral abnormality

MedlinePlus Genetics: 42 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.The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.

Orphanet 58 Lesch-nyhan syndrome: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.

Disease Ontology: 11 A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has material basis in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.

OMIM®: 57 The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019). (300322) (Updated 08-Dec-2022)

GARD: 19 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.

UniProtKB/Swiss-Prot: 73 Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation.

Wikipedia: 75 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme... more...

GeneReviews: NBK1149

Related Diseases for Lesch-Nyhan Syndrome

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 disorder of purine metabolism 31.8 HPRT1 APRT
2 hyperuricemia, hprt-related 31.5 SLC2A9 SLC22A12 SLC17A1 PRPS1L1 PRPS1 PNP
3 hyperuricemia 31.4 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1 HPRT1
4 purine-pyrimidine metabolic disorder 31.1 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1L1 PRPS1
5 nephrolithiasis 31.0 XDH SLC2A9 SLC22A12 HPRT1 APRT
6 movement disease 31.0 SLC6A3 HPRT1 ERCC6 APP
7 phosphoribosylpyrophosphate synthetase superactivity 30.8 PRPS1L1 PRPS1 HPRT1 APRT
8 xanthinuria 30.8 XDH SLC2A9 SLC22A12 HPRT1 GDA APRT
9 gout 30.8 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1 PNP
10 urolithiasis 30.7 XDH PRPS1 HPRT1 APRT
11 adenine phosphoribosyltransferase deficiency 30.6 XDH HPRT1 APRT ADSL
12 arts syndrome 30.6 PRPS1L1 PRPS1 HPRT1 APRT ADSL
13 attention deficit-hyperactivity disorder 30.3 SLC6A3 NGF MAOA APP
14 amyotrophic lateral sclerosis 1 30.3 XDH SLC6A3 NGF FGA ERCC6 APP
15 nephrolithiasis, uric acid 30.2 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1 HPRT1
16 central nervous system disease 30.1 SLC6A3 NGF ERCC6 APP
17 spasticity 10.8
18 dystonia 10.7
19 nephrolithiasis, calcium oxalate 10.7
20 cerebral palsy 10.6
21 kidney disease 10.6
22 acute kidney failure 10.5
23 nephrocalcinosis 10.5
24 athetosis 10.5
25 deficiency anemia 10.4
26 megaloblastic anemia 10.4
27 dissociated nystagmus 10.4 SLC6A3 HPRT1
28 aica-ribosuria due to atic deficiency 10.4
29 spastic cerebral palsy 10.4
30 choreatic disease 10.4
31 neuroblastoma 10.4
32 inhalation anthrax 10.3 RAPGEF4 RAPGEF3
33 postencephalitic parkinson disease 10.3 SLC6A3 APP
34 kleptomania 10.3 SLC6A3 MAOA
35 diabetic encephalopathy 10.3 NGF APP
36 avoidant personality disorder 10.3 SLC6A3 MAOA
37 inhibited male orgasm 10.3 SLC6A3 MAOA
38 mild cognitive impairment 10.3 SLC6A3 NGF APP
39 retinitis pigmentosa 18 10.3 NGF APP
40 charcot-marie-tooth disease type 5 10.3 PRPS1L1 PRPS1
41 neurotic disorder 10.3 NGF MAOA
42 communicating hydrocephalus 10.3 SLC6A3 ERCC6 APP
43 pathological gambling 10.3 SLC6A3 MAOA
44 toxic encephalopathy 10.3 SLC6A3 NGF APP
45 normal pressure hydrocephalus 10.3 SLC6A3 ERCC6 APP
46 non-syndromic x-linked intellectual disability 63 10.3 PRPS1L1 PRPS1
47 hypouricemia, renal, 1 10.3 SLC2A9 SLC22A12 HPRT1
48 spastic paraplegia, ataxia, and mental retardation 10.3
49 inherited metabolic disorder 10.3
50 deafness, x-linked 3 10.3 PRPS1L1 PRPS1

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



Diseases related to Lesch-Nyhan Syndrome

Symptoms & Phenotypes for Lesch-Nyhan Syndrome

Human phenotypes related to Lesch-Nyhan Syndrome:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001257
2 behavioral abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000708
3 intellectual disability, mild 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001256
4 hyperuricemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002149
5 abnormality of movement 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100022
6 hemiplegia/hemiparesis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004374
7 intellectual disability, moderate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002342
8 gout 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001997
9 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
10 anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001903
11 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
12 intellectual disability 30 HP:0001249
13 hyperreflexia 30 HP:0001347
14 dysarthria 30 HP:0001260
15 dysphagia 30 HP:0002015
16 hypotonia 30 HP:0001252
17 self-injurious behavior 30 HP:0100716
18 short stature 30 HP:0004322
19 vomiting 30 HP:0002013
20 nephrolithiasis 30 HP:0000787
21 motor delay 30 HP:0001270
22 abnormality of extrapyramidal motor function 30 HP:0002071
23 dystonia 30 HP:0001332
24 testicular atrophy 30 HP:0000029
25 choreoathetosis 30 HP:0001266
26 generalized hypotonia 30 HP:0001290
27 megaloblastic anemia 30 HP:0001889
28 opisthotonus 30 HP:0002179
29 hyperuricosuria 30 HP:0003149
30 podagra 30 HP:0001854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
dysphagia
hypotonia
motor delay
dystonia
more
Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperuricemia
hyperuricosuria

Genitourinary External Genitalia Male:
testicular atrophy

Growth Other:
growth retardation

Growth Height:
short stature

Hematology:
anemia
megaloblastic anemia

Genitourinary Kidneys:
nephrolithiasis

Skeletal Feet:
gout

Skin Nails Hair Skin:
uric acid tophi

Clinical features from OMIM®:

300322 (Updated 08-Dec-2022)

UMLS symptoms related to Lesch-Nyhan Syndrome:


vomiting; abnormality of extrapyramidal motor function; opisthotonus

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ADSL APP APRT ERCC6 FGA GDA
2 muscle MP:0005369 9.86 APP ERCC6 HPRT1 NGF RAPGEF3 RAPGEF4
3 cardiovascular system MP:0005385 9.7 ADSL APP FGA HPRT1 MAOA NGF
4 mortality/aging MP:0010768 9.44 ADSL APP APRT ERCC6 FGA HPRT1

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
2
Ecopipam Investigational Phase 3 112108-01-7 9861622 107930
3 Dopamine Antagonists Phase 3
4 Dopamine Agents Phase 3
5 Antipsychotic Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 Psychotropic Drugs Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Outpatient Phase 3 Efficacy Study of Ecopipam (PSYRX 101) in the Symptomatic Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3 Ecopipam;Placebo
2 Trial of Kuvan™ (Sapropterin) Treatment in Patients With Lesch Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
3 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Completed NCT00004314 Phase 2 aminomidazole carboxamide riboside
4 A Safety and Pilot Activity Study of Ecopipam (PSYRX 101) in the Symptomatic Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Completed NCT01065558 Phase 1 Ecopipam
5 Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report Recruiting NCT05548751

Search NIH Clinical Center for Lesch-Nyhan Syndrome

Cochrane evidence based reviews: lesch-nyhan syndrome

Genetic Tests for Lesch-Nyhan Syndrome

Genetic tests related to Lesch-Nyhan Syndrome:

# Genetic test Affiliating Genes
1 Lesch-Nyhan Syndrome 28 HPRT1
2 Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 28

Anatomical Context for Lesch-Nyhan Syndrome

Organs/tissues related to Lesch-Nyhan Syndrome:

MalaCards : Kidney, Skin, Bone Marrow, Globus Pallidus, Bone, Brain, Prefrontal Cortex
ODiseA: Blood And Bone Marrow, Kidney

Publications for Lesch-Nyhan Syndrome

Articles related to Lesch-Nyhan Syndrome:

(show top 50) (show all 1178)
# Title Authors PMID Year
1
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. 62 24 57 5
25481104 2015
2
Delineation of the motor disorder of Lesch-Nyhan disease. 53 62 24 5
16549399 2006
3
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. 62 57 5
3944251 1986
4
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. 62 24 57
31182398 2019
5
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. 62 24 5
23975452 2014
6
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. 53 62 57
20159777 2010
7
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. 53 62 57
19342420 2009
8
Variable expression of HPRT deficiency in 5 members of a family with the same mutation. 53 62 57
18779430 2008
9
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. 53 62 5
18600506 2008
10
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 53 62 5
17027311 2007
11
The spectrum of mutations causing HPRT deficiency: an update. 53 62 5
15571220 2004
12
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. 53 62 5
11018746 2000
13
An unexpected affected female patient in a classical Lesch-Nyhan family. 53 62 5
10767182 2000
14
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. 53 62 57
8843475 1996
15
Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. 53 62 57
8643611 1996
16
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. 53 62 5
8664901 1996
17
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. 53 62 5
1937471 1991
18
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. 53 62 5
2071157 1991
19
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. 53 62 5
2323782 1990
20
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 62 5
28045594 2017
21
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. 62 5
22157001 2012
22
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 62 5
22132984 2011
23
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. 62 57
20558399 2010
24
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. 53 62 24
15862283 2005
25
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. 62 5
15505382 2004
26
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. 62 5
11668636 2001
27
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. 53 62 24
11771623 2001
28
Lesch-Nyhan disease and the basal ganglia. 53 62 24
10760551 2000
29
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. 53 62 24
9824441 1998
30
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. 62 5
9799086 1998
31
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. 62 57
9211189 1997
32
New approaches to understanding Lesch-Nyhan disease. 62 57
8628345 1996
33
Presynaptic dopaminergic deficits in Lesch-Nyhan disease. 62 57
8628337 1996
34
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. 62 57
7509865 1994
35
A female patient with Lesch-Nyhan syndrome. 62 57
1612215 1992
36
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. 53 5
1618489 1992
37
Lesch-Nyhan syndrome in a girl. 62 5
1434518 1992
38
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat. 62 57
2127238 1990
39
Molecular analysis of a female Lesch-Nyhan patient. 62 5
2760209 1989
40
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. 62 5
2738157 1989
41
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. 62 5
2928313 1989
42
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. 62 5
2910902 1989
43
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. 62 5
3198771 1988
44
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). 62 5
3384338 1988
45
First-trimester diagnosis of Lesch-Nyhan syndrome. 62 57
6150236 1984
46
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. 62 5
6087154 1984
47
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. 62 5
6853716 1983
48
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. 62 57
6117011 1981
49
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. 62 57
523196 1979
50
Genetic epidemiology of Lesch-Nyhan disease. 62 57
868879 1977

Variations for Lesch-Nyhan Syndrome

ClinVar genetic disease variations for Lesch-Nyhan Syndrome:

5 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPRT1 HPRT CHICAGO DUP Pathogenic
10032 rs2077615673 GRCh37: X:133607416-133607417
GRCh38: X:134473386-134473387
2 HPRT1 NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) SNV Pathogenic
10034 rs137852480 GRCh37: X:133607483-133607483
GRCh38: X:134473453-134473453
3 HPRT1 NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) DEL Pathogenic
10035 rs387906428 GRCh37: X:133634093-133634113
GRCh38: X:134500063-134500083
4 HPRT1 NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) SNV Pathogenic
10036 rs137852481 GRCh37: X:133609298-133609298
GRCh38: X:134475268-134475268
5 HPRT1 NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) SNV Pathogenic
10037 rs267606863 GRCh37: X:133632685-133632685
GRCh38: X:134498655-134498655
6 HPRT1 NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) SNV Pathogenic
10040 rs137852483 GRCh37: X:133624222-133624222
GRCh38: X:134490192-134490192
7 HPRT1 NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) SNV Pathogenic
10043 rs137852486 GRCh37: X:133632700-133632700
GRCh38: X:134498670-134498670
8 HPRT1 NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) SNV Pathogenic
10045 rs137852488 GRCh37: X:133609287-133609287
GRCh38: X:134475257-134475257
9 HPRT1 NM_000194.3(HPRT1):c.610C>G (p.His204Asp) SNV Pathogenic
Likely Pathogenic
10047 rs137852490 GRCh37: X:133634060-133634060
GRCh38: X:134500030-134500030
10 HPRT1 NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) SNV Pathogenic
10048 rs137852491 GRCh37: X:133607495-133607495
GRCh38: X:134473465-134473465
11 HPRT1 NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) SNV Pathogenic
10049 rs137852492 GRCh37: X:133632463-133632463
GRCh38: X:134498433-134498433
12 HPRT1 NM_000194.3(HPRT1):c.609+5G>A SNV Pathogenic
10054 rs1569360139 GRCh37: X:133632719-133632719
GRCh38: X:134498689-134498689
13 HPRT1 NM_000194.3(HPRT1):c.610-4_610-2delinsTTT INDEL Pathogenic
10055 rs672601245 GRCh37: X:133634056-133634058
GRCh38: X:134500026-134500028
14 HPRT1 NM_000194.3(HPRT1):c.532+5G>A SNV Pathogenic
10056 rs1569360089 GRCh37: X:133632471-133632471
GRCh38: X:134498441-134498441
15 HPRT1 NM_000194.3(HPRT1):c.28-2A>T SNV Pathogenic
10057 rs1569354918 GRCh37: X:133607387-133607387
GRCh38: X:134473357-134473357
16 HPRT1 NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) SNV Pathogenic
10058 rs137852493 GRCh37: X:133632461-133632461
GRCh38: X:134498431-134498431
17 HPRT1 NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) SNV Pathogenic
10062 rs137852496 GRCh37: X:133627563-133627563
GRCh38: X:134493533-134493533
18 HPRT1 NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) SNV Pathogenic
10063 rs137852497 GRCh37: X:133632442-133632442
GRCh38: X:134498412-134498412
19 HPRT1 HPRT, EX2DEL DEL Pathogenic
10065 GRCh37:
GRCh38:
20 HPRT1 HPRT, EX4-9DEL DEL Pathogenic
10066 GRCh37:
GRCh38:
21 HPRT1 NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del DEL Pathogenic
10067 GRCh37:
GRCh38: X:134493178-134501176
22 HPRT1 HPRT, EX9DEL DEL Pathogenic
10068 GRCh37:
GRCh38:
23 HPRT1 HPRT, DEL DEL Pathogenic
10069 GRCh37:
GRCh38:
24 HPRT1 HPRT, INV/DEL, EX6-9 DEL Pathogenic
10071 GRCh37:
GRCh38:
25 HPRT1 HPRT, EX2-3DUP, IVS1DEL DUP Pathogenic
10072 GRCh37:
GRCh38:
26 HPRT1 HPRT CHERMSIDE SNV Pathogenic
10077 rs2077673385 GRCh37: X:133627621-133627621
GRCh38: X:134493591-134493591
27 HPRT1 HPRT COORPAROO DUP Pathogenic
10078 rs2077615719 GRCh37: X:133607431-133607432
GRCh38: X:134473401-134473402
28 HPRT1 NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) SNV Pathogenic
Uncertain Significance
10080 rs137852503 GRCh37: X:133627554-133627554
GRCh38: X:134493524-134493524
29 HPRT1 NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) SNV Pathogenic
10082 rs137852505 GRCh37: X:133627594-133627594
GRCh38: X:134493564-134493564
30 overlap with 2 genes NM_000194.2(HPRT1):c.-707_27+2236del DEL Pathogenic
10083 GRCh37:
GRCh38: X:134459605-134462608
31 HPRT1 NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) SNV Pathogenic
431129 rs1135401801 GRCh37: X:133607408-133607408
GRCh38: X:134473378-134473378
32 HPRT1 and overlap with 1 gene(s) NC_000023.11:g.(?_134460292)_(134500097_?)del DEL Pathogenic
526798 GRCh37: X:133594322-133634127
GRCh38: X:134460292-134500097
33 HPRT1 NM_000194.3(HPRT1):c.319-2A>G SNV Pathogenic
645956 rs1602745376 GRCh37: X:133620493-133620493
GRCh38: X:134486463-134486463
34 HPRT1 NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) SNV Pathogenic
804086 rs1602741150 GRCh37: X:133609297-133609297
GRCh38: X:134475267-134475267
35 overlap with 6 genes NC_000023.10:g.(?_132670132)_(133634127_?)del DEL Pathogenic
1076613 GRCh37: X:132670132-133634127
GRCh38:
36 HPRT1 NM_000194.3(HPRT1):c.486-1G>A SNV Pathogenic
92604 rs398123241 GRCh37: X:133632419-133632419
GRCh38: X:134498389-134498389
37 HPRT1 NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter) SNV Pathogenic
1390125 GRCh37: X:133607479-133607479
GRCh38: X:134473449-134473449
38 HPRT1, LOC107032760 NM_000194.3(HPRT1):c.11_17del (p.Arg4fs) DEL Pathogenic
1454295 GRCh37: X:133594349-133594355
GRCh38: X:134460319-134460325
39 HPRT1 NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter) SNV Pathogenic
1459930 GRCh37: X:133627565-133627565
GRCh38: X:134493535-134493535
40 HPRT1 NC_000023.10:g.(?_133632400)_(133634107_?)del DEL Pathogenic
1460213 GRCh37: X:133632400-133634107
GRCh38:
41 HPRT1 NM_000194.3(HPRT1):c.556_557del (p.Lys186fs) DEL Pathogenic
1456809 GRCh37: X:133632661-133632662
GRCh38: X:134498631-134498632
42 HPRT1 NM_000194.3(HPRT1):c.472dup (p.Val158fs) DUP Pathogenic
1452349 GRCh37: X:133627605-133627606
GRCh38: X:134493575-134493576
43 HPRT1, LOC107032760 NM_000194.3(HPRT1):c.22_27+28del DEL Pathogenic
842633 rs2077579380 GRCh37: X:133594355-133594388
GRCh38: X:134460325-134460358
44 HPRT1 NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro) SNV Pathogenic
1685885 GRCh37: X:133609309-133609309
GRCh38: X:134475279-134475279
45 HPRT1 NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) SNV Pathogenic
Pathogenic
10044 rs137852487 GRCh37: X:133609285-133609285
GRCh38: X:134475255-134475255
46 HPRT1 NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) SNV Pathogenic
Pathogenic
10046 rs137852489 GRCh37: X:133620501-133620501
GRCh38: X:134486471-134486471
47 HPRT1 NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) SNV Pathogenic
Pathogenic
10060 rs137852494 GRCh37: X:133609227-133609227
GRCh38: X:134475197-134475197
48 HPRT1 NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) SNV Pathogenic
582293 rs369065223 GRCh37: X:133620544-133620544
GRCh38: X:134486514-134486514
49 HPRT1 NC_000023.11:g.(?_134473339)_(134500097_?)del DEL Pathogenic
643153 GRCh37: X:133607369-133634127
GRCh38: X:134473339-134500097
50 HPRT1, LOC107032760 NC_000023.11:g.(?_134460292)_(134460385_?)del DEL Pathogenic
662833 GRCh37: X:133594322-133594415
GRCh38: X:134460292-134460385

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

73 (show all 36)
# Symbol AA change Variation ID SNP ID
1 HPRT1 p.Val8Gly VAR_006751
2 HPRT1 p.Gly16Asp VAR_006752
3 HPRT1 p.Leu41Pro VAR_006756 rs137852480
4 HPRT1 p.Ile42Phe VAR_006757
5 HPRT1 p.Ile42Thr VAR_006758
6 HPRT1 p.Arg45Lys VAR_006760 rs137852491
7 HPRT1 p.Ala50Val VAR_006762
8 HPRT1 p.Ala50Pro VAR_006763 rs1556026984
9 HPRT1 p.Arg51Pro VAR_006765
10 HPRT1 p.Met54Leu VAR_006769
11 HPRT1 p.Met57Thr VAR_006770 rs137852495
12 HPRT1 p.Gly70Glu VAR_006773 rs137852487
13 HPRT1 p.Gly71Arg VAR_006774 rs137852488
14 HPRT1 p.Phe74Leu VAR_006775 rs137852481
15 HPRT1 p.Val130Asp VAR_006780 rs137852483
16 HPRT1 p.Leu131Ser VAR_006781
17 HPRT1 p.Ile132Thr VAR_006783
18 HPRT1 p.Met143Lys VAR_006785 rs137852496
19 HPRT1 p.Ser162Arg VAR_006788
20 HPRT1 p.Pro176Leu VAR_006790 rs137852493
21 HPRT1 p.Asp177Val VAR_006791
22 HPRT1 p.Asp177Tyr VAR_006792 rs137852492
23 HPRT1 p.Val188Ala VAR_006795
24 HPRT1 p.Asp194Asn VAR_006798 rs267606863
25 HPRT1 p.Phe199Val VAR_006800 rs137852486
26 HPRT1 p.Asp201Tyr VAR_006803
27 HPRT1 p.His204Asp VAR_006804 rs137852490
28 HPRT1 p.His204Arg VAR_006805
29 HPRT1 p.Cys206Tyr VAR_006806
30 HPRT1 p.Asp44Tyr VAR_071611
31 HPRT1 p.Ala64Pro VAR_071613
32 HPRT1 p.Leu65Pro VAR_071614
33 HPRT1 p.Tyr72Cys VAR_071615
34 HPRT1 p.Leu78Gln VAR_071616
35 HPRT1 p.Leu147Pro VAR_071619
36 HPRT1 p.Lys159Glu VAR_071620

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 259233 X 133461536 133462037 Deletion HPRT1 Lesch-Nyhan syndrome

Expression for Lesch-Nyhan Syndrome

Search GEO for disease gene expression data for Lesch-Nyhan Syndrome.

Pathways for Lesch-Nyhan Syndrome



Pathways directly related to Lesch-Nyhan Syndrome:

# Pathway Source
1 Defective HPRT1 disrupts guanine and hypoxanthine salvage Reactome 66

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 XDH RAPGEF4 RAPGEF3 PRPS1L1 PRPS1 PNP
2
Show member pathways
13.6 SLC6A3 SLC2A9 SLC22A12 PNP MAOA HPRT1
3
Show member pathways
12.09 XDH PNP HPRT1 GDA APRT ADSL
4
Show member pathways
11.68 RAPGEF4 RAPGEF3 FGA
5 11.63 PNP HPRT1 APRT ADSL
6
Show member pathways
11.51 PNP HPRT1 APRT
7
Show member pathways
11.27 XDH PRPS1 HPRT1 GDA
8
Show member pathways
10.91 SLC6A3 MAOA
9
Show member pathways
10.91 GDA PNP XDH
10 10.82 PRPS1 HPRT1 ADSL
11 10.74 RAPGEF4 RAPGEF3
13
Show member pathways
10.61 SLC2A9 SLC22A12 SLC17A1
14
Show member pathways
10.26 PRPS1L1 PRPS1
15 10.1 XDH SLC22A12 PNP HPRT1

GO Terms for Lesch-Nyhan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.92 PRPS1L1 PRPS1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 10.08 XDH SLC6A3 APRT
2 dopamine catabolic process GO:0042420 9.92 SLC6A3 MAOA
3 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.91 PRPS1L1 PRPS1
4 urate metabolic process GO:0046415 9.91 SLC2A9 SLC22A12 SLC17A1
5 IMP catabolic process GO:0006204 9.9 PNP XDH
6 GMP salvage GO:0032263 9.89 APRT HPRT1
7 IMP salvage GO:0032264 9.88 APRT HPRT1
8 dAMP catabolic process GO:0046059 9.88 XDH PNP
9 allantoin metabolic process GO:0000255 9.88 GDA PNP XDH
10 dGMP catabolic process GO:0046055 9.87 XDH GDA
11 deoxyadenosine catabolic process GO:0006157 9.86 XDH PNP
12 guanine catabolic process GO:0006147 9.85 GDA XDH
13 urate transport GO:0015747 9.85 SLC17A1 SLC22A12 SLC2A9
14 inosine catabolic process GO:0006148 9.84 PNP XDH
15 deoxyinosine catabolic process GO:0006149 9.83 PNP XDH
16 deoxyguanosine catabolic process GO:0006161 9.81 GDA XDH
17 urate biosynthetic process GO:0034418 9.8 PNP PRPS1
18 purine ribonucleoside salvage GO:0006166 9.8 PNP HPRT1 APRT
19 nucleotide biosynthetic process GO:0009165 9.76 PRPS1L1 PRPS1 PNP
20 AMP salvage GO:0044209 9.73 HPRT1 APRT ADSL
21 adenine metabolic process GO:0046083 9.65 HPRT1 APRT
22 cellular biosynthetic process GO:0044249 9.62 PRPS1L1 PRPS1
23 ribonucleoside monophosphate biosynthetic process GO:0009156 9.55 PRPS1L1 PRPS1 ADSL
24 GMP catabolic process GO:0046038 9.43 XDH HPRT1 GDA
25 purine nucleotide biosynthetic process GO:0006164 9.23 PRPS1L1 PRPS1 HPRT1 ADSL

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.63 SLC6A3 SLC2A9 SLC22A12 SLC17A1
2 urate transmembrane transporter activity GO:0015143 9.26 SLC2A9 SLC22A12
3 ribose phosphate diphosphokinase activity GO:0004749 8.92 PRPS1L1 PRPS1

Sources for Lesch-Nyhan Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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