LNS
MCID: LSC001
MIFTS: 62

Lesch-Nyhan Syndrome (LNS)

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

Aliases & Classifications for Lesch-Nyhan Syndrome

MalaCards integrated aliases for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 56 12 74 24 52 25 53 58 73 36 29 13 54 6 43 15 39 71 32
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 24 52 58
Lns 56 52 25 73
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 12 52 25
Hprt Deficiency 56 24 58
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 25
Choreoathetosis Self-Mutilation Syndrome 52 25
Hprt Deficiency, Complete 56 52
X-Linked Hyperuricemia 12 25
Lesch-Nyhan Disease 24 25
Hprt1 Deficiency 56 58
Hgprt Deficiency 24 25
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 58
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 58
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 25
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency 56
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 25
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency 58
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 12
Deficiency of Hypoxanthine Phosphoribosyltransferase 25
Hypoxanthine Phosphoribosyltransferase Deficiency 25
Deficiency of Guanine Phosphoribosyltransferase 25
X-Linked Uric Aciduria Enzyme Defect 25
Deficiency of Imp Pyrophosphorylase 12
Complete Hprt Deficiency Complete 52
Juvenile Hyperuricemia Syndrome 25
Primary Hyperuricemia Syndrome 25
X-Linked Primary Hyperuricemia 25
Complete Hprt Deficiency 25
Hprt Complete Deficiency 58
Hprt Deficiency Grade Iv 58
Lesch - Nyhan Syndrome 12
Total Hprt Deficiency 25
Lesch Nyhan Syndrome 52
Lesch Nyhan Disease 52
Hg-Prt Deficiency 12
Lnd 25

Characteristics:

Orphanet epidemiological data:

58
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy;
hypoxanthine-guanine phosphoribosyltransferase deficiency
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
lesch-nyhan syndrome:
Inheritance x-linked recessive inheritance


Classifications:

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


Summaries for Lesch-Nyhan Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206428 Definition 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. Epidemiology Prevalence of HPRT deficiency is unknown but estimated prevalence for Lesch-Nyhan syndrome (LNS; see this term) is estimated between 1/380,000 and 1/235,000 live births. Males are generally affected and heterozygous females are carriers (usually asymptomatic). Clinical description Onset occurs during infancy. Two forms of the disease have been described: LNS, the most severe form, with a complete enzyme deficiency, and Lesch-Nyhan variants with partial HPRT deficiency. LNS is characterized by uric acid overproduction-related symptoms associated with urolithiasis and gout, severe neurological manifestations, hematological disturbances, and compulsive self-injurious behaviour. LNS patients have a limited life expectancy. In the less severely affected LNS variants, also termed Kelley-Seegmiller syndrome (KSS; see this term), uric acid overproduction-related symptoms are prominent, neurological manifestations are usually unapparent, compulsive self-injurious behaviour is absent and patients have a normal life expectancy. Etiology Inheritance is X-linked recessive and HPRT deficiency results from mutations in the HPRT1 gene (Xq26). Visit the Orphanet disease page for more resources.

MalaCards based summary : Lesch-Nyhan Syndrome, also known as hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to kelley-seegmiller syndrome and phosphoribosylpyrophosphate synthetase superactivity, 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 Purine metabolism and Metabolism of nucleotides. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are behavioral abnormality and intellectual disability, mild

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. 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.

NINDS : 53 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.

KEGG : 36 Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations.

UniProtKB/Swiss-Prot : 73 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Wikipedia : 74 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme... more...

More information from OMIM: 300322
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 218)
# Related Disease Score Top Affiliating Genes
1 kelley-seegmiller syndrome 33.6 HPRT1 APRT
2 phosphoribosylpyrophosphate synthetase superactivity 33.4 PRPS1 HPRT1 APRT
3 disorder of purine metabolism 32.0 HPRT1 APRT
4 hereditary xanthinuria 31.5 XDH APRT
5 arts syndrome 30.9 PRPS1 HPRT1 APRT
6 hyperuricemia 30.9 XDH SLC2A9 SLC22A12 PRPS1 HPRT1
7 adenine phosphoribosyltransferase deficiency 30.9 XDH HPRT1 APRT
8 purine nucleoside phosphorylase deficiency 30.6 PNP HPRT1 APRT ADSL
9 nephrolithiasis 30.6 XDH SLC2A9 SLC22A12 HPRT1 APRT
10 urolithiasis 30.5 XDH PRPS1 HPRT1 APRT
11 xanthinuria 30.5 XDH SLC2A9 SLC22A12 HPRT1 APRT
12 central nervous system disease 30.5 SLC6A3 NGF ERCC6 APP
13 gout 30.2 XDH SLC2A9 SLC22A12 PRPS1 HPRT1 APRT
14 autism 29.7 SLC6A3 RAPGEF4 NGF MAOA APP ADSL
15 nephrolithiasis, uric acid 29.2 XDH SLC2A9 SLC22A12 PRPS1 HPRT1
16 purine-pyrimidine metabolic disorder 28.4 XDH TMSB15A SLC2A9 SLC22A12 PRTFDC1 PRPS1
17 spasticity 11.0
18 dystonia 10.8
19 cerebral palsy 10.8
20 kidney disease 10.7
21 acute kidney failure 10.7
22 nephrocalcinosis 10.6
23 athetosis 10.6
24 chorea, childhood-onset, with psychomotor retardation 10.5
25 spastic cerebral palsy 10.5
26 choreatic disease 10.5
27 neuroblastoma 10.5
28 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
29 deficiency anemia 10.4
30 inherited metabolic disorder 10.4
31 nephrolithiasis, calcium oxalate 10.4
32 urate oxidase, pseudogene 10.4
33 ocular motor apraxia 10.4
34 n syndrome 10.4
35 alacrima, achalasia, and mental retardation syndrome 10.4
36 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
37 quadriplegia 10.4
38 acute cystitis 10.4
39 hypothyroidism 10.4
40 movement disease 10.4
41 encephalopathy 10.4
42 hypertonia 10.4
43 hypotonia 10.4
44 tremor 10.4
45 hair whorl 10.4
46 systemic lupus erythematosus 10.4
47 glucosephosphate dehydrogenase deficiency 10.3
48 molybdenum cofactor deficiency, complementation group a 10.3 XDH PNP APRT
49 dentinogenesis imperfecta type 2 10.3
50 adenylosuccinase deficiency 10.3

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 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
4 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
5 hyperuricemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002149
6 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
7 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
8 gout 58 31 hallmark (90%) Very frequent (99-80%) HP:0001997
9 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
10 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
11 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
12 intellectual disability 31 HP:0001249
13 muscular hypotonia 31 HP:0001252
14 short stature 31 HP:0004322
15 vomiting 31 HP:0002013
16 dysphagia 31 HP:0002015
17 hyperreflexia 31 HP:0001347
18 motor delay 31 HP:0001270
19 dysarthria 31 HP:0001260
20 nephrolithiasis 31 HP:0000787
21 self-injurious behavior 31 HP:0100716
22 abnormality of extrapyramidal motor function 31 HP:0002071
23 dystonia 31 HP:0001332
24 testicular atrophy 31 HP:0000029
25 choreoathetosis 31 HP:0001266
26 generalized hypotonia 31 HP:0001290
27 megaloblastic anemia 31 HP:0001889
28 opisthotonus 31 HP:0002179
29 hyperuricosuria 31 HP:0003149
30 podagra 31 HP:0001854

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Neurologic Central Nervous System:
dysphagia
motor delay
dysarthria
dystonia
choreoathetosis
more
Laboratory Abnormalities:
hyperuricemia
hyperuricosuria

Genitourinary External Genitalia Male:
testicular atrophy

Growth Other:
growth retardation

Abdomen Gastrointestinal:
vomiting

Hematology:
anemia
megaloblastic anemia

Genitourinary Kidneys:
nephrolithiasis

Skeletal Feet:
gout

Skin Nails Hair Skin:
uric acid tophi

Clinical features from OMIM:

300322

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 10.1 APP APRT ERCC6 FGA HPRT1 MAOA
2 cardiovascular system MP:0005385 10.02 ADSL APP FGA HPRT1 MAOA NGF
3 mortality/aging MP:0010768 9.77 ADSL APP APRT ERCC6 FGA HPRT1
4 integument MP:0010771 9.76 APP APRT ERCC6 FGA HPRT1 NGF
5 muscle MP:0005369 9.23 APP ERCC6 HPRT1 NGF RAPGEF3 RAPGEF4

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 51-61-6, 62-31-7 681
2 Ecopipam Investigational Phase 3 112108-01-7
3 Dopamine Agents Phase 3
4 Neurotransmitter Agents Phase 3
5 Dopamine Antagonists Phase 3
6 Psychotropic Drugs Phase 3
7 Antipsychotic Agents 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

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 29 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

40
Kidney, Skin, Brain, Testes, Globus Pallidus, Bone Marrow, Bone

Publications for Lesch-Nyhan Syndrome

Articles related to Lesch-Nyhan Syndrome:

(show top 50) (show all 849)
# Title Authors PMID Year
1
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. 56 61 6
3944251 1986
2
An unexpected affected female patient in a classical Lesch-Nyhan family. 54 24 6
10767182 2000
3
Variable expression of HPRT deficiency in 5 members of a family with the same mutation. 56 61 54
18779430 2008
4
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. 61 56 54
8843475 1996
5
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. 61 54 6
8664901 1996
6
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. 61 54 6
1937471 1991
7
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. 54 61 6
2071157 1991
8
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. 6 61 54
2323782 1990
9
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. 24 56
3575027 1987
10
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. 24 56
6020292 1967
11
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. 56 24
14142409 1964
12
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. 54 56
20159777 2010
13
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. 54 56
19342420 2009
14
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. 54 61 24
17062485 2006
15
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. 61 24 54
15140374 2004
16
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. 6 61
11668636 2001
17
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. 24 61 54
11771623 2001
18
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. 61 54 24
11307586 2001
19
Lesch-Nyhan Syndrome 6 61
20301328 2000
20
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. 24 54 61
9824441 1998
21
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. 56 61
9211189 1997
22
Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. 54 56
8643611 1996
23
A female patient with Lesch-Nyhan syndrome. 56 61
1612215 1992
24
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. 6 54
1618489 1992
25
Lesch-Nyhan syndrome in a girl. 61 6
1434518 1992
26
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat. 61 56
2127238 1990
27
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. 61 6
2358296 1990
28
Molecular analysis of a female Lesch-Nyhan patient. 61 6
2760209 1989
29
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. 6 61
2738157 1989
30
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. 6 61
2928313 1989
31
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. 61 6
2910902 1989
32
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). 61 6
3384338 1988
33
First-trimester diagnosis of Lesch-Nyhan syndrome. 61 56
6150236 1984
34
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. 6 61
6087154 1984
35
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. 6 61
6853716 1983
36
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. 56 61
6117011 1981
37
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. 56 61
523196 1979
38
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients. 61 56
1060095 1975
39
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. 61 56
5464303 1970
40
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. 61 56
5263751 1970
41
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. 61 56
5411648 1970
42
Megaloblastic anaemia in the Lesch-Nyhan syndrome. 61 56
4173010 1968
43
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. 56 61
4868511 1968
44
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. 56
25481104 2015
45
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. 6
20981450 2011
46
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. 56
20558399 2010
47
Attenuated variants of Lesch-Nyhan disease. 24 61
20176575 2010
48
Delineation of the motor disorder of Lesch-Nyhan disease. 54 24
16549399 2006
49
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder. 24 54
16245252 2005
50
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. 54 24
15862283 2005

Variations for Lesch-Nyhan Syndrome

ClinVar genetic disease variations for Lesch-Nyhan Syndrome:

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPRT1 NM_000194.3(HPRT1):c.47G>T (p.Gly16Val)SNV Pathogenic 431129 rs1135401801 X:133607408-133607408 X:134473378-134473378
2 HPRT1 NC_000023.11:g.(?_134460292)_(134500097_?)deldeletion Pathogenic 526798 X:133594322-133634127 X:134460292-134500097
3 HPRT1 NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)SNV Pathogenic 582293 rs369065223 X:133620544-133620544 X:134486514-134486514
4 HPRT1 NC_000023.11:g.(?_134473339)_(134500097_?)deldeletion Pathogenic 643153 X:133607369-133634127 X:134473339-134500097
5 HPRT1 NM_000194.3(HPRT1):c.319-2A>GSNV Pathogenic 645956 X:133620493-133620493 X:134486463-134486463
6 HPRT1 NC_000023.11:g.(?_134460292)_(134460385_?)deldeletion Pathogenic 662833 X:133594322-133594415 X:134460292-134460385
7 HPRT1 NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys)SNV Pathogenic 804086 X:133609297-133609297 X:134475267-134475267
8 HPRT1 NC_000023.11:g.(?_134500010)_(134500097_?)deldeletion Pathogenic 830749 X:133634040-133634127
9 HPRT1 NM_000194.3(HPRT1):c.124_127del (p.Ile42fs)deletion Pathogenic 861226 X:133607483-133607486 X:134473453-134473456
10 HPRT1 NM_000194.3(HPRT1):c.22_27+28deldeletion Pathogenic 842633 X:133594355-133594388 X:134460325-134460358
11 HPRT1 NM_000194.3(HPRT1):c.532+5G>ASNV Pathogenic 10056 rs1569360089 X:133632471-133632471 X:134498441-134498441
12 HPRT1 NM_000194.3(HPRT1):c.28-2A>TSNV Pathogenic 10057 rs1569354918 X:133607387-133607387 X:134473357-134473357
13 HPRT1 NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu)SNV Pathogenic 10058 rs137852493 X:133632461-133632461 X:134498431-134498431
14 HPRT1 HPRT, INV/DEL, EX6-9deletion Pathogenic 10071
15 HPRT1 HPRT, EX2-3DUP, IVS1DELduplication Pathogenic 10072
16 HPRT1 HPRT,1-BP INS, 207Ginsertion Pathogenic 10070
17 HPRT1 NM_000194.3(HPRT1):c.610-4_610-2delinsTTTindel Pathogenic 10055 rs672601245 X:133634056-133634058 X:134500026-134500028
18 HPRT1 HPRT CHICAGOduplication Pathogenic 10032 X:133607416-133607417 X:134473386-134473387
19 HPRT1 HPRT CONNERSVILLEdeletion Pathogenic 10033
20 HPRT1 NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro)SNV Pathogenic 10034 rs137852480 X:133607483-133607483 X:134473453-134473453
21 HPRT1 NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)deletion Pathogenic 10035 rs387906428 X:133634093-133634113 X:134500063-134500083
22 HPRT1 NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu)SNV Pathogenic 10036 rs137852481 X:133609298-133609298 X:134475268-134475268
23 HPRT1 NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn)SNV Pathogenic 10037 rs267606863 X:133632685-133632685 X:134498655-134498655
24 HPRT1 HPRT MICHIGANdeletion Pathogenic 10039
25 HPRT1 NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)SNV Pathogenic 10040 rs137852483 X:133624222-133624222 X:134490192-134490192
26 HPRT1 NM_000194.2(HPRT1):c.595T>G (p.Phe199Val)SNV Pathogenic 10043 rs137852486 X:133632700-133632700 X:134498670-134498670
27 HPRT1 NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)SNV Pathogenic 10044 rs137852487 X:133609285-133609285 X:134475255-134475255
28 HPRT1 NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)SNV Pathogenic 10046 rs137852489 X:133620501-133620501 X:134486471-134486471
29 HPRT1 NM_000194.3(HPRT1):c.610C>G (p.His204Asp)SNV Pathogenic 10047 rs137852490 X:133634060-133634060 X:134500030-134500030
30 HPRT1 NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys)SNV Pathogenic 10048 rs137852491 X:133607495-133607495 X:134473465-134473465
31 HPRT1 NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr)SNV Pathogenic 10049 rs137852492 X:133632463-133632463 X:134498433-134498433
32 HPRT1 HPRT, 2-BP DEL, GTdeletion Pathogenic 10050
33 HPRT1 HPRT, 1-BP DEL, TTA-TAdeletion Pathogenic 10051
34 HPRT1 HPRT, 1-BP DEL, TTG-TGdeletion Pathogenic 10052
35 HPRT1 HPRT, 40-BP DELdeletion Pathogenic 10053
36 HPRT1 NM_000194.3(HPRT1):c.609+5G>ASNV Pathogenic 10054 rs1569360139 X:133632719-133632719 X:134498689-134498689
37 HPRT1 NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)SNV Pathogenic 10060 rs137852494 X:133609227-133609227 X:134475197-134475197
38 HPRT1 NM_000194.3(HPRT1):c.428T>A (p.Met143Lys)SNV Pathogenic 10062 rs137852496 X:133627563-133627563 X:134493533-134493533
39 HPRT1 NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)SNV Pathogenic 10063 rs137852497 X:133632442-133632442 X:134498412-134498412
40 HPRT1 HPRT, EX2DELdeletion Pathogenic 10065
41 HPRT1 HPRT, EX4-9DELdeletion Pathogenic 10066
42 HPRT1 NC_000023.11:g.(134493178_134493182)_(134501172_134501176)deldeletion Pathogenic 10067 X:134493178-134501176
43 HPRT1 HPRT, EX9DELdeletion Pathogenic 10068
44 HPRT1 HPRT, DELdeletion Pathogenic 10069
45 HPRT1 HPRT CHERMSIDESNV Pathogenic 10077 X:133627621-133627621 X:134493591-134493591
46 HPRT1 HPRT COORPAROOduplication Pathogenic 10078 X:133607431-133607432 X:134473401-134473402
47 HPRT1 NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)SNV Pathogenic 10080 rs137852503 X:133627554-133627554 X:134493524-134493524
48 HPRT1 NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter)SNV Pathogenic 10082 rs137852505 X:133627594-133627594 X:134493564-134493564
49 HPRT1 NM_000194.2(HPRT1):c.-707_27+2236deldeletion Pathogenic 10083 X:134459605-134462608
50 HPRT1 NM_000194.3(HPRT1):c.143G>A (p.Arg48His)SNV Pathogenic 29985 rs387906725 X:133609219-133609219 X:134475189-134475189

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

73 (show all 35)
# 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 rs155602698
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.Asp194Asn VAR_006798 rs267606863
24 HPRT1 p.Phe199Val VAR_006800 rs137852486
25 HPRT1 p.Asp201Tyr VAR_006803
26 HPRT1 p.His204Asp VAR_006804 rs137852490
27 HPRT1 p.His204Arg VAR_006805
28 HPRT1 p.Cys206Tyr VAR_006806
29 HPRT1 p.Asp44Tyr VAR_071611
30 HPRT1 p.Ala64Pro VAR_071613
31 HPRT1 p.Leu65Pro VAR_071614
32 HPRT1 p.Tyr72Cys VAR_071615
33 HPRT1 p.Leu78Gln VAR_071616
34 HPRT1 p.Leu147Pro VAR_071619
35 HPRT1 p.Lys159Glu VAR_071620

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

7
# 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 related to Lesch-Nyhan Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 XDH PRPS1 PNP HPRT1 ATIC APRT
2
Show member pathways
11.73 PNP HPRT1 ATIC APRT
3 11.69 RAPGEF3 MAOA APP
4
Show member pathways
11.57 RAPGEF4 RAPGEF3 FGA
5 11.39 PNP HPRT1 APRT ADSL
6 10.86 XDH PRPS1 HPRT1
7
Show member pathways
10.84 SLC6A3 MAOA
8 10.64 RAPGEF4 RAPGEF3
9 10.45 SLC2A9 SLC22A12
10 10.41 PRPS1 HPRT1 ADSL

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 extracellular exosome GO:0070062 9.56 SLC22A12 RAPGEF3 PNP HPRT1 FGA ATIC
2 endosome lumen GO:0031904 8.62 NGF APP

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.75 SLC6A3 HPRT1 APP
2 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.73 RAPGEF3 NGF APP
3 lactation GO:0007595 9.65 XDH SLC6A3 APRT
4 nucleotide biosynthetic process GO:0009165 9.6 PRPS1 PNP
5 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.59 ATIC ADSL
6 grooming behavior GO:0007625 9.58 HPRT1 APRT
7 purine nucleotide catabolic process GO:0006195 9.57 XDH PNP
8 urate metabolic process GO:0046415 9.55 SLC2A9 SLC22A12
9 dopamine catabolic process GO:0042420 9.54 SLC6A3 MAOA
10 ribonucleoside monophosphate biosynthetic process GO:0009156 9.52 PRPS1 ADSL
11 urate transport GO:0015747 9.51 SLC2A9 SLC22A12
12 'de novo' IMP biosynthetic process GO:0006189 9.49 ATIC ADSL
13 adenine metabolic process GO:0046083 9.46 HPRT1 APRT
14 GMP catabolic process GO:0046038 9.43 PRTFDC1 HPRT1
15 purine-containing compound salvage GO:0043101 9.43 PNP HPRT1 APRT
16 urate biosynthetic process GO:0034418 9.4 PRPS1 PNP
17 guanine salvage GO:0006178 9.37 PRTFDC1 HPRT1
18 purine ribonucleoside salvage GO:0006166 9.33 PRTFDC1 HPRT1 APRT
19 adenine salvage GO:0006168 9.32 HPRT1 APRT
20 purine nucleotide biosynthetic process GO:0006164 9.26 PRPS1 HPRT1 ATIC ADSL
21 nucleoside metabolic process GO:0009116 9.1 PRTFDC1 PRPS1 PNP HPRT1 ATIC APRT

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

# Name GO ID Score Top Affiliating Genes
1 urate transmembrane transporter activity GO:0015143 8.96 SLC2A9 SLC22A12
2 hypoxanthine phosphoribosyltransferase activity GO:0004422 8.62 PRTFDC1 HPRT1

Sources for Lesch-Nyhan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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