MCID: LSC001
MIFTS: 62

Lesch-Nyhan Syndrome

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

Aliases & Classifications for Lesch-Nyhan Syndrome

MalaCards integrated aliases for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 53 12 72 23 49 24 50 55 71 36 28 13 51 41 14 69
Lns 53 49 24 71
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 12 49 24
Hprt Deficiency 53 23 49
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 24
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 23
Hprt Deficiency, Complete 53 49
Lesch-Nyhan Disease 23 24
Hprt1 Deficiency 53 49
Hgprt Deficiency 23 24
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [ambiguous] 12
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 55
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 55
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 24
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 49
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency 53
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 24
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 12
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 12
X-Linked Hyperuricemia [ambiguous] 12
Juvenile Hyperuricemia Syndrome 24
Primary Hyperuricemia Syndrome 24
X-Linked Primary Hyperuricemia 24
Complete Hprt Deficiency 24
Hprt Complete Deficiency 55
Hprt Deficiency Grade Iv 55
Lesch - Nyhan Syndrome 12
X-Linked Hyperuricemia 24
Total Hprt Deficiency 24
Lesch Nyhan Syndrome 49
Lesch Nyhan Disease 49
Hg-Prt Deficiency 12
Lnd 24

Characteristics:

Orphanet epidemiological data:

55
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy;

OMIM:

53
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:



Summaries for Lesch-Nyhan Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 206428Disease definitionHypoxanthine-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.EpidemiologyPrevalence 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 descriptionOnset 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.EtiologyInheritance is X-linked recessive and HPRT deficiency results from mutations in the HPRT1 gene (Xq26).Visit the Orphanet disease page for more resources. Last updated: 4/5/2010

MalaCards based summary : Lesch-Nyhan Syndrome, also known as lns, is related to kelley-seegmiller syndrome and hyperuricemia, and has symptoms including spasticity, behavioral abnormality and renal insufficiency. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Purine metabolism and Pyrimidine metabolism (KEGG). 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 homeostasis/metabolism 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 : 50 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.

UniProtKB/Swiss-Prot : 71 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Description 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 all 45)
# Related Disease Score Top Affiliating Genes
1 kelley-seegmiller syndrome 32.9 APRT HPRT1
2 hyperuricemia 30.6 HPRT1 XDH
3 xanthinuria 29.6 ADSL APRT HPRT1 XDH
4 gout 29.6 ADSL APRT HPRT1 XDH
5 hereditary hyperuricemia 11.3
6 neuroblastoma 10.3
7 nephrolithiasis, uric acid 10.3 HPRT1 XDH
8 hereditary xanthinuria 10.3 APRT XDH
9 neuronitis 10.3
10 purine nucleoside phosphorylase deficiency 10.2 HPRT1 PNP
11 xanthinuria, type i 10.2 APRT XDH
12 nephrolithiasis, calcium oxalate 10.2 APRT XDH
13 molybdenum cofactor deficiency 10.2 PNP XDH
14 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
15 maple syrup urine disease 10.1
16 orotic aciduria 10.1
17 phenylketonuria 10.1
18 xeroderma pigmentosum, variant type 10.1
19 multiple mitochondrial dysfunctions syndrome 5 10.1
20 cerebral palsy 10.1
21 nephrolithiasis 10.1
22 thrombosis 10.1
23 nephrocalcinosis 10.1
24 hypothyroidism 10.1
25 cervicitis 10.1
26 cerebritis 10.1
27 herpes simplex 10.1
28 pulmonary embolism 10.1
29 athetosis 10.1
30 neonatal hypothyroidism 10.1
31 streptococcal group a invasive disease 10.1
32 atlantoaxial subluxation 10.1
33 adenine phosphoribosyltransferase deficiency 10.1 APRT HPRT1 XDH
34 adenosine deaminase deficiency 10.0
35 peripheral nervous system neoplasm 9.9 APP NGF
36 lung cancer 9.9
37 autonomic nervous system neoplasm 9.9 APP NGF
38 supranuclear palsy, progressive, 1 9.8 APP SLC6A3
39 synucleinopathy 9.7 APP SLC6A3
40 toxic encephalopathy 9.6 APP NGF SLC6A3
41 nervous system disease 9.6 APP NGF SLC6A3
42 central nervous system disease 9.6 APP NGF SLC6A3
43 dementia, lewy body 9.5 APP SLC6A3
44 parkinson disease, late-onset 9.5 APP NGF SLC6A3
45 purine-pyrimidine metabolic disorder 9.2 ADSL APRT HPRT1 PNP XDH

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



Diseases related to Lesch-Nyhan Syndrome

Symptoms & Phenotypes for Lesch-Nyhan Syndrome

Symptoms via clinical synopsis from OMIM:

53
AbdomenGastrointestinal:
vomiting

GrowthHeight:
short stature

LaboratoryAbnormalities:
hyperuricemia
hyperuricosuria

GenitourinaryKidneys:
nephrolithiasis

GrowthOther:
growth retardation

NeurologicCentralNervousSystem:
dystonia
opisthotonus
dysarthria
dysphagia
motor delay
more
Hematology:
anemia
megaloblastic anemia

GenitourinaryExternalGenitaliaMale:
testicular atrophy

SkeletalFeet:
gout

SkinNailsHairSkin:
uric acid tophi


Clinical features from OMIM:

300322

Human phenotypes related to Lesch-Nyhan Syndrome:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
3 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
4 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 abnormality of movement 55 31 hallmark (90%) Very frequent (99-80%) HP:0100022
6 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
7 hemiplegia/hemiparesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004374
8 intellectual disability, moderate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002342
9 hematuria 55 31 frequent (33%) Frequent (79-30%) HP:0000790
10 gout 55 31 hallmark (90%) Very frequent (99-80%) HP:0001997
11 vomiting 31 HP:0002013
12 abnormality of extrapyramidal motor function 31 HP:0002071
13 dystonia 31 HP:0001332
14 opisthotonus 31 HP:0002179
15 intellectual disability 31 HP:0001249
16 dysarthria 31 HP:0001260
17 hyperreflexia 31 HP:0001347
18 dysphagia 31 HP:0002015
19 short stature 31 HP:0004322
20 hyperuricemia 55 Very frequent (99-80%)
21 testicular atrophy 31 HP:0000029
22 nephrolithiasis 31 HP:0000787
23 motor delay 31 HP:0001270
24 choreoathetosis 31 HP:0001266
25 generalized hypotonia 31 HP:0001290
26 megaloblastic anemia 31 HP:0001889
27 hyperuricosuria 31 HP:0003149
28 podagra 31 HP:0001854

UMLS symptoms related to Lesch-Nyhan Syndrome:


abnormality of extrapyramidal motor function, opisthotonus, vomiting

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.87 NGF RAPGEF4 SLC6A3 XDH APP APRT
2 integument MP:0010771 9.73 APP APRT HPRT1 NGF SLC6A3 XDH
3 mortality/aging MP:0010768 9.7 ADSL APP APRT HPRT1 NGF SLC6A3
4 muscle MP:0005369 9.43 APP HPRT1 NGF RAPGEF4 SLC6A3 XDH
5 no phenotypic analysis MP:0003012 9.02 APP HPRT1 NGF RAPGEF4 XDH

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
2 Ecopipam Investigational Phase 3,Phase 1 112108-01-7
3 Antipsychotic Agents Phase 3,Phase 1
4 Central Nervous System Depressants Phase 3,Phase 1
5 Dopamine Agents Phase 3,Phase 1
6 Dopamine Antagonists Phase 3,Phase 1
7 Neurotransmitter Agents Phase 3,Phase 1
8 Psychotropic Drugs Phase 3,Phase 1
9 Tranquilizing Agents Phase 3,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3 Ecopipam;Placebo
2 Trial of Kuvan in 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 Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients 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 28 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

38
Kidney, Skin, Brain, Liver, Globus Pallidus, Spinal Cord, Myeloid

Publications for Lesch-Nyhan Syndrome

Articles related to Lesch-Nyhan Syndrome:

(show top 50) (show all 378)
# Title Authors Year
1
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. ( 29227296 )
2018
2
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. ( 28357186 )
2017
3
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. ( 27379977 )
2016
4
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. ( 27365935 )
2016
5
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. ( 27920633 )
2016
6
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. ( 27420966 )
2016
7
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. ( 27833236 )
2016
8
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
9
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. ( 26398526 )
2015
10
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. ( 25965333 )
2015
11
Lesch-Nyhan Syndrome in an Indian Child. ( 26120162 )
2015
12
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. ( 24680827 )
2014
13
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. ( 24503445 )
2014
14
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. ( 24530950 )
2014
15
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
16
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
17
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. ( 23597535 )
2013
18
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622 )
2013
19
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. ( 23063963 )
2013
20
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. ( 22350962 )
2012
21
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
22
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. ( 22183764 )
2012
23
An unanticipated difficult airway in Lesch-Nyhan syndrome. ( 22557752 )
2012
24
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. ( 21940691 )
2012
25
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. ( 22132985 )
2011
26
Clinical utility gene card for: Lesch-Nyhan syndrome. ( 20648055 )
2011
27
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. ( 21331772 )
2011
28
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. ( 20695874 )
2010
29
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. ( 20874729 )
2010
30
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. ( 21078074 )
2010
31
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. ( 18992978 )
2009
32
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. ( 18287946 )
2008
33
Lesch-Nyhan syndrome: a case report. ( 18974538 )
2008
34
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. ( 17701224 )
2008
35
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. ( 18520986 )
2008
36
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( 17680274 )
2007
37
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. ( 18067674 )
2007
38
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. ( 17062485 )
2006
39
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. ( 16537260 )
2006
40
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. ( 16773422 )
2006
41
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. ( 16903443 )
2006
42
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
43
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. ( 17065065 )
2006
44
Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome. ( 15838698 )
2005
45
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. ( 15711436 )
2005
46
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. ( 16138673 )
2005
47
Self-mutilation in the Lesch-Nyhan syndrome. ( 16344506 )
2005
48
Self-mutilation behaviour in Lesch-Nyhan syndrome. ( 16138897 )
2005
49
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. ( 16530134 )
2005
50
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. ( 15193365 )
2004

Variations for Lesch-Nyhan Syndrome

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

71 (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
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

ClinVar genetic disease variations for Lesch-Nyhan Syndrome:

6 (show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPRT1 HPRT CHICAGO insertion Pathogenic
2 HPRT1 HPRT CONNERSVILLE deletion Pathogenic
3 HPRT1 NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs137852480 GRCh37 Chromosome X, 133607483: 133607483
4 HPRT1 NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs) deletion Pathogenic rs387906428 GRCh37 Chromosome X, 133634093: 133634113
5 HPRT1 NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu) single nucleotide variant Pathogenic rs137852481 GRCh37 Chromosome X, 133609298: 133609298
6 HPRT1 NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs267606863 GRCh37 Chromosome X, 133632685: 133632685
7 HPRT1 HPRT MICHIGAN deletion Pathogenic
8 HPRT1 NM_000194.2(HPRT1): c.389T> A (p.Val130Asp) single nucleotide variant Pathogenic rs137852483 GRCh37 Chromosome X, 133624222: 133624222
9 HPRT1 NM_000194.2(HPRT1): c.595T> G (p.Phe199Val) single nucleotide variant Pathogenic rs137852486 GRCh37 Chromosome X, 133632700: 133632700
10 HPRT1 NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu) single nucleotide variant Pathogenic rs137852487 GRCh37 Chromosome X, 133609285: 133609285
11 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh37 Chromosome X, 133620501: 133620501
12 HPRT1 NM_000194.2(HPRT1): c.610C> G (p.His204Asp) single nucleotide variant Pathogenic rs137852490 GRCh37 Chromosome X, 133634060: 133634060
13 HPRT1 NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys) single nucleotide variant Pathogenic rs137852491 GRCh37 Chromosome X, 133607495: 133607495
14 HPRT1 NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs137852492 GRCh37 Chromosome X, 133632463: 133632463
15 HPRT1 HPRT, 2-BP DEL, GT deletion Pathogenic
16 HPRT1 HPRT, 1-BP DEL, TTA-TA deletion Pathogenic
17 HPRT1 HPRT, 1-BP DEL, TTG-TG deletion Pathogenic
18 HPRT1 HPRT, 40-BP DEL deletion Pathogenic
19 HPRT1 HPRT, IVS8DS, G-A, +5 single nucleotide variant Pathogenic
20 HPRT1 NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTT indel Pathogenic rs672601245 GRCh37 Chromosome X, 133634056: 133634058
21 HPRT1 HPRT, IVS7DS, G-A, +5 single nucleotide variant Pathogenic
22 HPRT1 HPRT, IVS1AS, A-T, -2 single nucleotide variant Pathogenic
23 HPRT1 NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu) single nucleotide variant Pathogenic rs137852493 GRCh37 Chromosome X, 133632461: 133632461
24 HPRT1 NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs137852494 GRCh37 Chromosome X, 133609227: 133609227
25 HPRT1 NM_000194.2(HPRT1): c.428T> A (p.Met143Lys) single nucleotide variant Pathogenic rs137852496 GRCh37 Chromosome X, 133627563: 133627563
26 HPRT1 NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs137852497 GRCh37 Chromosome X, 133632442: 133632442
27 HPRT1 HPRT, EX2DEL deletion Pathogenic
28 HPRT1 HPRT, EX4-9DEL deletion Pathogenic
29 HPRT1 NG_012329.1: g.(38034_38038)_(46028_46032)del deletion Pathogenic GRCh38 Chromosome X, 134493178: 134501176
30 HPRT1 HPRT, EX9DEL deletion Pathogenic
31 HPRT1 HPRT, DEL deletion Pathogenic
32 HPRT1 HPRT,1-BP INS, 207G insertion Pathogenic
33 HPRT1 HPRT, INV/DEL, EX6-9 deletion Pathogenic
34 HPRT1 HPRT, EX2-3DUP, IVS1DEL duplication Pathogenic
35 HPRT1 HPRT CHERMSIDE deletion Pathogenic
36 HPRT1 HPRT COORPAROO insertion Pathogenic
37 HPRT1 NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp) single nucleotide variant Pathogenic rs137852503 GRCh37 Chromosome X, 133627554: 133627554
38 HPRT1 NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter) single nucleotide variant Pathogenic rs137852505 GRCh37 Chromosome X, 133627594: 133627594
39 HPRT1 NM_000194.2(HPRT1): c.-707_27+2236del deletion Pathogenic GRCh38 Chromosome X, 134459605: 134462608
40 HPRT1 NM_000194.2(HPRT1): c.384+1G> A single nucleotide variant Pathogenic rs398123240 GRCh37 Chromosome X, 133620561: 133620561
41 HPRT1 NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs) duplication Pathogenic rs786200980 GRCh37 Chromosome X, 133609288: 133609288
42 HPRT1 NM_000194.2(HPRT1): c.580G> C (p.Asp194His) single nucleotide variant Pathogenic rs267606863 GRCh37 Chromosome X, 133632685: 133632685
43 HPRT1 NM_000194.2(HPRT1): c.47G> T (p.Gly16Val) single nucleotide variant Pathogenic rs1135401801 GRCh38 Chromosome X, 134473378: 134473378

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

7
# CNVD ID Chromosom 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
11.92 ADSL APRT HPRT1 PNP XDH
2
Show member pathways
11.44 APRT HPRT1 PNP
3
Show member pathways
11.37 ADSL APRT HPRT1 PNP XDH
4
Show member pathways
11.19 APP NGF
5 10.75 HPRT1 XDH
6 10.54 ADSL HPRT1

GO Terms for Lesch-Nyhan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.58 APP HPRT1 SLC6A3
2 lactation GO:0007595 9.5 APRT SLC6A3 XDH
3 purine nucleotide biosynthetic process GO:0006164 9.48 ADSL HPRT1
4 purine nucleotide catabolic process GO:0006195 9.46 PNP XDH
5 grooming behavior GO:0007625 9.43 APRT HPRT1
6 purine ribonucleoside salvage GO:0006166 9.37 APRT HPRT1
7 adenine metabolic process GO:0046083 9.26 APRT HPRT1
8 adenine salvage GO:0006168 9.16 APRT HPRT1
9 nucleoside metabolic process GO:0009116 9.13 APRT HPRT1 PNP
10 purine-containing compound salvage GO:0043101 8.8 APRT HPRT1 PNP

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

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.43 APP NGF SLC6A3
2 drug binding GO:0008144 9.16 PNP SLC6A3
3 catalytic activity GO:0003824 9.13 ADSL PNP XDH
4 transferase activity, transferring glycosyl groups GO:0016757 8.8 APRT HPRT1 PNP

Sources for Lesch-Nyhan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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