MCID: LSC001
MIFTS: 62

Lesch-Nyhan Syndrome

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

Aliases & Classifications for Lesch-Nyhan Syndrome

MalaCards integrated aliases for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 57 12 76 24 53 25 54 59 75 37 29 13 55 6 44 15 40 73
Lns 57 53 25 75
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 12 53 25
Hprt Deficiency 57 24 53
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 25
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 24
Hprt Deficiency, Complete 57 53
X-Linked Hyperuricemia 12 25
Lesch-Nyhan Disease 24 25
Hprt1 Deficiency 57 53
Hgprt Deficiency 24 25
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 59
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 59
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 25
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 53
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency 57
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 25
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 12
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 12
Juvenile Hyperuricemia Syndrome 25
Primary Hyperuricemia Syndrome 25
X-Linked Primary Hyperuricemia 25
Complete Hprt Deficiency 25
Hprt Complete Deficiency 59
Hprt Deficiency Grade Iv 59
Lesch - Nyhan Syndrome 12
Total Hprt Deficiency 25
Lesch Nyhan Syndrome 53
Lesch Nyhan Disease 53
Hg-Prt Deficiency 12
Lnd 25

Characteristics:

Orphanet epidemiological data:

59
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy;

OMIM:

57
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:

32
lesch-nyhan syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Lesch-Nyhan Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Lesch-Nyhan Syndrome, also known as lns, is related to kelley-seegmiller syndrome and hyperuricemia, and has symptoms including vomiting, opisthotonus and abnormality of extrapyramidal motor function. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Purine metabolism and Metabolism. 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 spasticity and behavioral abnormality

UniProtKB/Swiss-Prot : 75 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

NINDS : 54 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.

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.

Wikipedia : 76 Lesch–Nyhan syndrome (LNS), also known as juvenile gout, is a rare inherited disorder caused by a... more...

Description from OMIM: 300322
GeneReviews: NBK1149

Related Diseases for Lesch-Nyhan Syndrome

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:

57
Neurologic Central Nervous System:
dysarthria
dysphagia
dystonia
choreoathetosis
motor delay
more
Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperuricemia
hyperuricosuria

Genitourinary Kidneys:
nephrolithiasis

Growth Other:
growth retardation

Growth Height:
short stature

Hematology:
anemia
megaloblastic anemia

Genitourinary External Genitalia Male:
testicular atrophy

Skeletal Feet:
gout

Skin Nails Hair Skin:
uric acid tophi


Clinical features from OMIM:

300322

Human phenotypes related to Lesch-Nyhan Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
2 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
3 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
4 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
5 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
6 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
7 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
8 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
9 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
10 gout 59 32 hallmark (90%) Very frequent (99-80%) HP:0001997
11 intellectual disability 32 HP:0001249
12 muscular hypotonia 32 HP:0001252
13 dysarthria 32 HP:0001260
14 hyperreflexia 32 HP:0001347
15 dysphagia 32 HP:0002015
16 short stature 32 HP:0004322
17 vomiting 32 HP:0002013
18 hyperuricemia 59 Very frequent (99-80%)
19 dystonia 32 HP:0001332
20 testicular atrophy 32 HP:0000029
21 nephrolithiasis 32 HP:0000787
22 abnormality of extrapyramidal motor function 32 HP:0002071
23 choreoathetosis 32 HP:0001266
24 motor delay 32 HP:0001270
25 generalized hypotonia 32 HP:0001290
26 opisthotonus 32 HP:0002179
27 megaloblastic anemia 32 HP:0001889
28 hyperuricosuria 32 HP:0003149
29 podagra 32 HP:0001854

UMLS symptoms related to Lesch-Nyhan Syndrome:


vomiting, opisthotonus, abnormality of extrapyramidal motor function

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ADSL APP HPRT1 NGF RAPGEF3 RAPGEF4
2 homeostasis/metabolism MP:0005376 9.8 RAPGEF4 XDH APP APRT HPRT1 NGF
3 integument MP:0010771 9.55 APP APRT HPRT1 NGF XDH
4 muscle MP:0005369 9.43 APP HPRT1 NGF RAPGEF3 RAPGEF4 XDH
5 no phenotypic analysis MP:0003012 9.02 APP 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 12)
# 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
10
Uric Acid Experimental, Investigational 69-93-2 1175
11 Antioxidants
12 Protective Agents

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
5 Purine Metabolism Enzyme SNP to Uric Acid Production Completed NCT01830725
6 Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development Completed NCT01736553

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:

41
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 380)
# Title Authors Year
1
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. ( 29227296 )
2018
2
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene. ( 29479880 )
2018
3
Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report. ( 29664508 )
2018
4
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. ( 28357186 )
2017
5
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
6
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. ( 27379977 )
2016
7
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. ( 27365935 )
2016
8
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. ( 27420966 )
2016
9
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. ( 27833236 )
2016
10
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. ( 27920633 )
2016
11
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. ( 25965333 )
2015
12
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. ( 26398526 )
2015
13
Lesch-Nyhan Syndrome in an Indian Child. ( 26120162 )
2015
14
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
15
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. ( 24680827 )
2014
16
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. ( 24503445 )
2014
17
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. ( 24530950 )
2014
18
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
19
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. ( 23597535 )
2013
20
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. ( 23063963 )
2013
21
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622 )
2013
22
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. ( 22183764 )
2012
23
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. ( 22350962 )
2012
24
An unanticipated difficult airway in Lesch-Nyhan syndrome. ( 22557752 )
2012
25
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
26
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. ( 21940691 )
2012
27
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. ( 22132985 )
2011
28
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. ( 21331772 )
2011
29
Clinical utility gene card for: Lesch-Nyhan syndrome. ( 20648055 )
2011
30
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. ( 20695874 )
2010
31
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. ( 21078074 )
2010
32
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. ( 20874729 )
2010
33
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. ( 18992978 )
2009
34
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. ( 18287946 )
2008
35
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. ( 17701224 )
2008
36
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. ( 18520986 )
2008
37
Lesch-Nyhan syndrome: a case report. ( 18974538 )
2008
38
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( 17680274 )
2007
39
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. ( 18067674 )
2007
40
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. ( 16903443 )
2006
41
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. ( 16537260 )
2006
42
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. ( 17065065 )
2006
43
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. ( 17062485 )
2006
44
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. ( 16773422 )
2006
45
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
46
Self-mutilation in the Lesch-Nyhan syndrome. ( 16344506 )
2005
47
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. ( 16138673 )
2005
48
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. ( 16530134 )
2005
49
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. ( 15711436 )
2005
50
Self-mutilation behaviour in Lesch-Nyhan syndrome. ( 16138897 )
2005

Variations for Lesch-Nyhan Syndrome

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

75 (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 top 50) (show all 73)
# 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.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs137852480 GRCh38 Chromosome X, 134473453: 134473453
5 HPRT1 NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs) deletion Pathogenic rs387906428 GRCh37 Chromosome X, 133634093: 133634113
6 HPRT1 NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs) deletion Pathogenic rs387906428 GRCh38 Chromosome X, 134500063: 134500083
7 HPRT1 NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu) single nucleotide variant Pathogenic rs137852481 GRCh37 Chromosome X, 133609298: 133609298
8 HPRT1 NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu) single nucleotide variant Pathogenic rs137852481 GRCh38 Chromosome X, 134475268: 134475268
9 HPRT1 NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs267606863 GRCh37 Chromosome X, 133632685: 133632685
10 HPRT1 NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs267606863 GRCh38 Chromosome X, 134498655: 134498655
11 HPRT1 HPRT MICHIGAN deletion Pathogenic
12 HPRT1 NM_000194.2(HPRT1): c.389T> A (p.Val130Asp) single nucleotide variant Pathogenic rs137852483 GRCh37 Chromosome X, 133624222: 133624222
13 HPRT1 NM_000194.2(HPRT1): c.389T> A (p.Val130Asp) single nucleotide variant Pathogenic rs137852483 GRCh38 Chromosome X, 134490192: 134490192
14 HPRT1 NM_000194.2(HPRT1): c.595T> G (p.Phe199Val) single nucleotide variant Pathogenic rs137852486 GRCh37 Chromosome X, 133632700: 133632700
15 HPRT1 NM_000194.2(HPRT1): c.595T> G (p.Phe199Val) single nucleotide variant Pathogenic rs137852486 GRCh38 Chromosome X, 134498670: 134498670
16 HPRT1 NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu) single nucleotide variant Pathogenic rs137852487 GRCh37 Chromosome X, 133609285: 133609285
17 HPRT1 NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu) single nucleotide variant Pathogenic rs137852487 GRCh38 Chromosome X, 134475255: 134475255
18 HPRT1 NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg) single nucleotide variant Likely pathogenic rs137852488 GRCh37 Chromosome X, 133609287: 133609287
19 HPRT1 NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg) single nucleotide variant Likely pathogenic rs137852488 GRCh38 Chromosome X, 134475257: 134475257
20 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh37 Chromosome X, 133620501: 133620501
21 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh38 Chromosome X, 134486471: 134486471
22 HPRT1 NM_000194.2(HPRT1): c.610C> G (p.His204Asp) single nucleotide variant Pathogenic rs137852490 GRCh37 Chromosome X, 133634060: 133634060
23 HPRT1 NM_000194.2(HPRT1): c.610C> G (p.His204Asp) single nucleotide variant Pathogenic rs137852490 GRCh38 Chromosome X, 134500030: 134500030
24 HPRT1 NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys) single nucleotide variant Pathogenic rs137852491 GRCh37 Chromosome X, 133607495: 133607495
25 HPRT1 NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys) single nucleotide variant Pathogenic rs137852491 GRCh38 Chromosome X, 134473465: 134473465
26 HPRT1 NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs137852492 GRCh37 Chromosome X, 133632463: 133632463
27 HPRT1 NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs137852492 GRCh38 Chromosome X, 134498433: 134498433
28 HPRT1 HPRT, 2-BP DEL, GT deletion Pathogenic
29 HPRT1 HPRT, 1-BP DEL, TTA-TA deletion Pathogenic
30 HPRT1 HPRT, 1-BP DEL, TTG-TG deletion Pathogenic
31 HPRT1 HPRT, 40-BP DEL deletion Pathogenic
32 HPRT1 HPRT, IVS8DS, G-A, +5 single nucleotide variant Pathogenic
33 HPRT1 NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTT indel Pathogenic rs672601245 GRCh37 Chromosome X, 133634056: 133634058
34 HPRT1 NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTT indel Pathogenic rs672601245 GRCh38 Chromosome X, 134500026: 134500028
35 HPRT1 HPRT, IVS7DS, G-A, +5 single nucleotide variant Pathogenic
36 HPRT1 HPRT, IVS1AS, A-T, -2 single nucleotide variant Pathogenic
37 HPRT1 NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu) single nucleotide variant Pathogenic rs137852493 GRCh37 Chromosome X, 133632461: 133632461
38 HPRT1 NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu) single nucleotide variant Pathogenic rs137852493 GRCh38 Chromosome X, 134498431: 134498431
39 HPRT1 NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs137852494 GRCh37 Chromosome X, 133609227: 133609227
40 HPRT1 NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs137852494 GRCh38 Chromosome X, 134475197: 134475197
41 HPRT1 NM_000194.2(HPRT1): c.428T> A (p.Met143Lys) single nucleotide variant Pathogenic rs137852496 GRCh37 Chromosome X, 133627563: 133627563
42 HPRT1 NM_000194.2(HPRT1): c.428T> A (p.Met143Lys) single nucleotide variant Pathogenic rs137852496 GRCh38 Chromosome X, 134493533: 134493533
43 HPRT1 NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs137852497 GRCh37 Chromosome X, 133632442: 133632442
44 HPRT1 NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs137852497 GRCh38 Chromosome X, 134498412: 134498412
45 HPRT1 HPRT, EX2DEL deletion Pathogenic
46 HPRT1 HPRT, EX4-9DEL deletion Pathogenic
47 HPRT1 NG_012329.1: g.(38034_38038)_(46028_46032)del deletion Pathogenic GRCh38 Chromosome X, 134493178: 134501176
48 HPRT1 HPRT, EX9DEL deletion Pathogenic
49 HPRT1 HPRT, DEL deletion Pathogenic
50 HPRT1 HPRT,1-BP INS, 207G insertion Pathogenic

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:

37
# 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
13.58 ADSL APRT HPRT1 PNP RAPGEF3 RAPGEF4
2
Show member pathways
11.92 ADSL APRT HPRT1 PNP XDH
3
Show member pathways
11.44 APRT HPRT1 PNP
4
Show member pathways
11.36 ADSL APRT HPRT1 PNP XDH
5
Show member pathways
11.28 APP NGF
6 11.13 RAPGEF3 RAPGEF4
7 10.8 HPRT1 XDH
8 10.6 ADSL HPRT1
9 10.46 RAPGEF3 RAPGEF4

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 cytosol GO:0005829 9.17 ADSL APP APRT HPRT1 PNP RAPGEF4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of insulin secretion GO:0050796 9.51 RAPGEF3 RAPGEF4
2 cellular response to cAMP GO:0071320 9.49 APP RAPGEF3
3 lactation GO:0007595 9.48 APRT XDH
4 cAMP-mediated signaling GO:0019933 9.46 RAPGEF3 RAPGEF4
5 purine nucleotide biosynthetic process GO:0006164 9.43 ADSL HPRT1
6 grooming behavior GO:0007625 9.4 APRT HPRT1
7 purine nucleotide catabolic process GO:0006195 9.37 PNP XDH
8 purine ribonucleoside salvage GO:0006166 9.32 APRT HPRT1
9 adenine salvage GO:0006168 9.26 APRT HPRT1
10 adenine metabolic process GO:0046083 9.16 APRT HPRT1
11 nucleoside metabolic process GO:0009116 9.13 APRT HPRT1 PNP
12 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 catalytic activity GO:0003824 9.33 ADSL PNP XDH
2 transferase activity, transferring glycosyl groups GO:0016757 9.13 APRT HPRT1 PNP
3 cAMP binding GO:0030552 8.62 RAPGEF3 RAPGEF4

Sources for Lesch-Nyhan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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