LNS
MCID: LSC001
MIFTS: 63

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 58 12 77 25 54 26 55 60 76 38 30 13 56 6 45 15 41 74
Lns 58 54 26 76
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 12 54 26
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 25 54
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 26
Choreoathetosis Self-Mutilation Syndrome 54 26
Hprt Deficiency, Complete 58 54
X-Linked Hyperuricemia 12 26
Lesch-Nyhan Disease 25 26
Hgprt Deficiency 25 26
Hprt Deficiency 58 25
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 60
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 60
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 26
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency 58
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 26
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 12
Deficiency of Hypoxanthine Phosphoribosyltransferase 26
Hypoxanthine Phosphoribosyltransferase Deficiency 26
Deficiency of Guanine Phosphoribosyltransferase 26
X-Linked Uric Aciduria Enzyme Defect 26
Deficiency of Imp Pyrophosphorylase 12
Complete Hprt Deficiency Complete 54
Juvenile Hyperuricemia Syndrome 26
Primary Hyperuricemia Syndrome 26
X-Linked Primary Hyperuricemia 26
Complete Hprt Deficiency 26
Hprt Complete Deficiency 60
Hprt Deficiency Grade Iv 60
Lesch - Nyhan Syndrome 12
Total Hprt Deficiency 26
Lesch Nyhan Syndrome 54
Lesch Nyhan Disease 54
Hg-Prt Deficiency 12
Hprt1 Deficiency 58
Lnd 26

Characteristics:

Orphanet epidemiological data:

60
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy;

OMIM:

58
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:

33
lesch-nyhan syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Lesch-Nyhan Syndrome

NIH Rare Diseases : 54 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 nephrolithiasis, calcium oxalate, 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. 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

Genetics Home Reference : 26 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 : 55 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 : 76 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Wikipedia : 77 Lesch–Nyhan syndrome (LNS), is a rare inherited disorder caused by a deficiency of the enzyme... more...

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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 kelley-seegmiller syndrome 33.0 APRT HPRT1
2 nephrolithiasis, calcium oxalate 30.8 APRT XDH
3 nephrolithiasis 30.8 APRT HPRT1 XDH
4 hyperuricemia 30.6 HPRT1 XDH
5 xanthinuria 30.2 ADSL APRT HPRT1 XDH
6 gout 30.2 ADSL APRT HPRT1 XDH
7 hereditary hyperuricemia 11.8
8 horns in sheep 11.0
9 neuroblastoma 10.5
10 phosphoribosylpyrophosphate synthetase superactivity 10.4
11 polymyositis 10.4
12 tuberous sclerosis 1 10.3
13 tuberous sclerosis 10.3
14 status epilepticus 10.3
15 macrocytic anemia 10.3
16 dystonia 10.3
17 tetrahydrobiopterin deficiency 10.3
18 maple syrup urine disease 10.3
19 orotic aciduria 10.3
20 phenylketonuria 10.3
21 xeroderma pigmentosum, variant type 10.3
22 cerebral palsy 10.3
23 thrombosis 10.3
24 nephrocalcinosis 10.3
25 acute cystitis 10.3
26 hypothyroidism 10.3
27 herpes simplex 10.3
28 pulmonary embolism 10.3
29 athetosis 10.3
30 neonatal hypothyroidism 10.3
31 atlantoaxial subluxation 10.3
32 neuroma 10.3
33 systemic lupus erythematosus 10.2
34 retinoblastoma 10.2
35 nephrolithiasis, uric acid 10.2 HPRT1 XDH
36 hereditary xanthinuria 10.2 APRT XDH
37 adenosine deaminase deficiency 10.1
38 purine nucleoside phosphorylase deficiency 10.1 HPRT1 PNP
39 xanthinuria, type i 10.1 APRT XDH
40 malignant glioma 10.1
41 glioma 10.1
42 lung cancer 10.1
43 thyroid cancer, nonmedullary, 1 10.0
44 gastric cancer 10.0
45 bacteriuria 10.0
46 thyroid cancer 10.0
47 degos 'en cocarde' erythrokeratoderma 10.0
48 adenine phosphoribosyltransferase deficiency 10.0 APRT HPRT1 XDH
49 pelger-huet anomaly 9.9
50 bowenoid papulosis 9.9

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
2 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
3 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
4 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0100022
5 hyperuricemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002149
6 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004374
7 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
8 gout 60 33 hallmark (90%) Very frequent (99-80%) HP:0001997
9 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
10 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
11 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
12 intellectual disability 33 HP:0001249
13 muscular hypotonia 33 HP:0001252
14 dysarthria 33 HP:0001260
15 hyperreflexia 33 HP:0001347
16 dysphagia 33 HP:0002015
17 self-injurious behavior 33 HP:0100716
18 short stature 33 HP:0004322
19 vomiting 33 HP:0002013
20 dystonia 33 HP:0001332
21 motor delay 33 HP:0001270
22 testicular atrophy 33 HP:0000029
23 nephrolithiasis 33 HP:0000787
24 abnormality of extrapyramidal motor function 33 HP:0002071
25 choreoathetosis 33 HP:0001266
26 generalized hypotonia 33 HP:0001290
27 opisthotonus 33 HP:0002179
28 megaloblastic anemia 33 HP:0001889
29 hyperuricosuria 33 HP:0003149
30 podagra 33 HP:0001854

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
dysphagia
dystonia
motor delay
choreoathetosis
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

UMLS symptoms related to Lesch-Nyhan Syndrome:


vomiting, abnormality of extrapyramidal motor function, opisthotonus

MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

47
# 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 APP APRT HPRT1 NGF RAPGEF3 RAPGEF4
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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 1 62-31-7, 51-61-6 681
2 Ecopipam Investigational Phase 3,Phase 1 112108-01-7
3 Dopamine Agents Phase 3,Phase 1
4 Central Nervous System Depressants Phase 3,Phase 1
5 Psychotropic Drugs Phase 3,Phase 1
6 Neurotransmitter Agents Phase 3,Phase 1
7 Antipsychotic Agents Phase 3,Phase 1
8 Dopamine Antagonists Phase 3,Phase 1
9 Tranquilizing Agents Phase 3,Phase 1
10
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
13 Antifungal Agents Phase 2
14 Hormone Antagonists Phase 2
15 Steroid Synthesis Inhibitors Phase 2
16 Anti-Infective Agents Phase 2
17 Hormones Phase 2
18 Cytochrome P-450 CYP3A Inhibitors Phase 2
19
Hydroxyitraconazole Phase 2
20 Cytochrome P-450 Enzyme Inhibitors Phase 2
21
Uric Acid Experimental, Investigational 69-93-2 1175
22 Protective Agents
23 Antioxidants

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 Pilot Biomarker Trial to Evaluate the Efficacy of Itraconazole in Patients w/ Basal Cell Carcinomas Completed NCT01108094 Phase 2 Itraconazole
5 Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease Completed NCT01065558 Phase 1 Ecopipam
6 Purine Metabolism Enzyme SNP to Uric Acid Production Completed NCT01830725
7 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 30 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

42
Kidney, Skin, Brain, Liver, Testes, Globus Pallidus, Lymph Node

Publications for Lesch-Nyhan Syndrome

Articles related to Lesch-Nyhan Syndrome:

(show top 50) (show all 428)
# 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
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( 30001695 )
2018
5
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions. ( 30112653 )
2018
6
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers. ( 30112657 )
2018
7
Quaternary Chalcogenide-Based Misfit Nanotubes LnS(Se)-TaS(Se)2 (Ln = La, Ce, Nd, and Ho): Synthesis and Atomic Structural Studies. ( 29278501 )
2018
8
Synthesis and Characterization of Nanotubes from Misfit (LnS)1+y TaS2 (Ln=Pr, Sm, Gd, Yb) Compounds. ( 29873843 )
2018
9
Monte Carlo GEANT4-based application for in vivo RBE study using small animals at LNS-INFN preclinical hadrontherapy facility. ( 30037452 )
2018
10
Miniaturized microdosimeters as LET monitors: First comparison of calculated and experimental data performed at the 62 MeV/u 12C beam of INFN-LNS with four different detectors. ( 30139599 )
2018
11
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. ( 28357186 )
2017
12
Patterns and determinants of small-quantity LNS utilization in rural Malawi and Mozambique: considerations for interventions with specialized nutritious foods. ( 26787342 )
2017
13
Differing growth responses to nutritional supplements in neighboring health districts of Burkina Faso are likely due to benefits of small-quantity lipid-based nutrient supplements (LNS). ( 28771493 )
2017
14
Crossover trial to test the acceptability of a locally produced lipid-based nutrient supplement (LNS) for children under 2 years in Cambodia: a study protocol. ( 28882910 )
2017
15
Lipid based nutrient supplements (LNS) for treatment of children (6 months to 59 months) with moderate acute malnutrition (MAM): A systematic review. ( 28934235 )
2017
16
Clinical and Research Activities at the CATANA Facility of INFN-LNS: From the Conventional Hadrontherapy to the Laser-Driven Approach. ( 28971066 )
2017
17
Corrigendum: Clinical and Research Activities at the CATANA Facility of INFN-LNS: From the Conventional Hadrontherapy to the Laser-Driven Approach. ( 29109941 )
2017
18
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
19
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. ( 27379977 )
2016
20
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. ( 27365935 )
2016
21
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. ( 27420966 )
2016
22
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. ( 27833236 )
2016
23
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. ( 27920633 )
2016
24
Biopharmaceutical evaluation of epigallocatechin gallate-loaded cationic lipid nanoparticles (EGCG-LNs): In vivo, in vitro and ex vivo studies. ( 26921515 )
2016
25
Recent progress in plasma modelling at INFN-LNS. ( 26931913 )
2016
26
Beam imaging in the injection line of the INFN-LNS superconducting cyclotron. ( 26932076 )
2016
27
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. ( 25965333 )
2015
28
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. ( 26398526 )
2015
29
Lesch-Nyhan Syndrome in an Indian Child. ( 26120162 )
2015
30
Preventative lipid-based nutrient supplements (LNS) and young child feeding practices: findings from qualitative research in Haiti. ( 24784976 )
2015
31
Comparison of methods to assess adherence to small-quantity lipid-based nutrient supplements (SQ-LNS) and dispersible tablets among young Burkinabé children participating in a community-based intervention trial. ( 25521188 )
2015
32
Impact of lipid-based nutrient supplementation (LNS) on children's diet adequacy in Western Uganda. ( 25597415 )
2015
33
Radiation dose and quickness of needle CT-interventions using a laser navigation system (LNS) compared with conventional method. ( 26210096 )
2015
34
Relieving the pressure at LNS 2015. ( 26266557 )
2015
35
Prognostic Value of Metastatic No.8p LNs in Patients with Gastric Cancer. ( 26649037 )
2015
36
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
37
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. ( 24680827 )
2014
38
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. ( 24503445 )
2014
39
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. ( 24530950 )
2014
40
Wide local extension and higher proliferation indices are characteristic features of symptomatic lobular neoplasias (LNs) and LNs with an early invasive component. ( 24382009 )
2014
41
Physicochemical characterization of epigallocatechin gallate lipid nanoparticles (EGCG-LNs) for ocular instillation. ( 25303852 )
2014
42
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
43
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. ( 23597535 )
2013
44
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. ( 23063963 )
2013
45
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622 )
2013
46
The in vitro anti-tumor efficacy and the pharmacokinetics of N3-o-toluyl-fluorouracil loaded nanosuspension (TFu-LNS). ( 23802409 )
2013
47
Membrane-tethered monomeric neurexin LNS-domain triggers synapse formation. ( 24005312 )
2013
48
Reduction of lns-1 gene expression and tissue insulin levels in n5-STZ rats. ( 24346076 )
2013
49
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. ( 22183764 )
2012
50
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. ( 22350962 )
2012

Variations for Lesch-Nyhan Syndrome

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

76 (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 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPRT1 NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs) duplication Pathogenic rs786200980 GRCh37 Chromosome X, 133609288: 133609288
2 HPRT1 NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs) duplication Pathogenic rs786200980 GRCh38 Chromosome X, 134475258: 134475258
3 HPRT1 HPRT, EX2-3DUP, IVS1DEL duplication Pathogenic
4 HPRT1 HPRT CHICAGO insertion Pathogenic
5 HPRT1 HPRT CONNERSVILLE deletion Pathogenic
6 HPRT1 NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs137852480 GRCh37 Chromosome X, 133607483: 133607483
7 HPRT1 NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs137852480 GRCh38 Chromosome X, 134473453: 134473453
8 HPRT1 NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs) deletion Pathogenic rs387906428 GRCh37 Chromosome X, 133634093: 133634113
9 HPRT1 NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs) deletion Pathogenic rs387906428 GRCh38 Chromosome X, 134500063: 134500083
10 HPRT1 NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu) single nucleotide variant Pathogenic rs137852481 GRCh37 Chromosome X, 133609298: 133609298
11 HPRT1 NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu) single nucleotide variant Pathogenic rs137852481 GRCh38 Chromosome X, 134475268: 134475268
12 HPRT1 NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs267606863 GRCh37 Chromosome X, 133632685: 133632685
13 HPRT1 NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs267606863 GRCh38 Chromosome X, 134498655: 134498655
14 HPRT1 HPRT MICHIGAN deletion Pathogenic
15 HPRT1 NM_000194.2(HPRT1): c.389T> A (p.Val130Asp) single nucleotide variant Pathogenic rs137852483 GRCh37 Chromosome X, 133624222: 133624222
16 HPRT1 NM_000194.2(HPRT1): c.389T> A (p.Val130Asp) single nucleotide variant Pathogenic rs137852483 GRCh38 Chromosome X, 134490192: 134490192
17 HPRT1 NM_000194.2(HPRT1): c.595T> G (p.Phe199Val) single nucleotide variant Pathogenic rs137852486 GRCh37 Chromosome X, 133632700: 133632700
18 HPRT1 NM_000194.2(HPRT1): c.595T> G (p.Phe199Val) single nucleotide variant Pathogenic rs137852486 GRCh38 Chromosome X, 134498670: 134498670
19 HPRT1 NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu) single nucleotide variant Pathogenic rs137852487 GRCh37 Chromosome X, 133609285: 133609285
20 HPRT1 NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu) single nucleotide variant Pathogenic rs137852487 GRCh38 Chromosome X, 134475255: 134475255
21 HPRT1 NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg) single nucleotide variant Likely pathogenic rs137852488 GRCh37 Chromosome X, 133609287: 133609287
22 HPRT1 NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg) single nucleotide variant Likely pathogenic rs137852488 GRCh38 Chromosome X, 134475257: 134475257
23 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh37 Chromosome X, 133620501: 133620501
24 HPRT1 NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs137852489 GRCh38 Chromosome X, 134486471: 134486471
25 HPRT1 NM_000194.2(HPRT1): c.610C> G (p.His204Asp) single nucleotide variant Pathogenic rs137852490 GRCh37 Chromosome X, 133634060: 133634060
26 HPRT1 NM_000194.2(HPRT1): c.610C> G (p.His204Asp) single nucleotide variant Pathogenic rs137852490 GRCh38 Chromosome X, 134500030: 134500030
27 HPRT1 NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys) single nucleotide variant Pathogenic rs137852491 GRCh37 Chromosome X, 133607495: 133607495
28 HPRT1 NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys) single nucleotide variant Pathogenic rs137852491 GRCh38 Chromosome X, 134473465: 134473465
29 HPRT1 NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs137852492 GRCh37 Chromosome X, 133632463: 133632463
30 HPRT1 NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs137852492 GRCh38 Chromosome X, 134498433: 134498433
31 HPRT1 HPRT, 2-BP DEL, GT deletion Pathogenic
32 HPRT1 HPRT, 1-BP DEL, TTA-TA deletion Pathogenic
33 HPRT1 HPRT, 1-BP DEL, TTG-TG deletion Pathogenic
34 HPRT1 HPRT, 40-BP DEL deletion Pathogenic
35 HPRT1 NM_000194.3(HPRT1): c.609+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 134498689: 134498689
36 HPRT1 NM_000194.3(HPRT1): c.609+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 133632719: 133632719
37 HPRT1 NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTT indel Pathogenic rs672601245 GRCh37 Chromosome X, 133634056: 133634058
38 HPRT1 NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTT indel Pathogenic rs672601245 GRCh38 Chromosome X, 134500026: 134500028
39 HPRT1 NM_000194.3(HPRT1): c.532+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 133632471: 133632471
40 HPRT1 NM_000194.3(HPRT1): c.532+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 134498441: 134498441
41 HPRT1 NM_000194.3(HPRT1): c.28-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome X, 134473357: 134473357
42 HPRT1 NM_000194.3(HPRT1): c.28-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome X, 133607387: 133607387
43 HPRT1 NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu) single nucleotide variant Pathogenic rs137852493 GRCh37 Chromosome X, 133632461: 133632461
44 HPRT1 NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu) single nucleotide variant Pathogenic rs137852493 GRCh38 Chromosome X, 134498431: 134498431
45 HPRT1 NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs137852494 GRCh37 Chromosome X, 133609227: 133609227
46 HPRT1 NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs137852494 GRCh38 Chromosome X, 134475197: 134475197
47 HPRT1 NM_000194.2(HPRT1): c.428T> A (p.Met143Lys) single nucleotide variant Pathogenic rs137852496 GRCh37 Chromosome X, 133627563: 133627563
48 HPRT1 NM_000194.2(HPRT1): c.428T> A (p.Met143Lys) single nucleotide variant Pathogenic rs137852496 GRCh38 Chromosome X, 134493533: 134493533
49 HPRT1 NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs137852497 GRCh37 Chromosome X, 133632442: 133632442
50 HPRT1 NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs137852497 GRCh38 Chromosome X, 134498412: 134498412

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:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230

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 metabolic process GO:0046083 9.26 APRT HPRT1
10 adenine salvage GO:0006168 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 transferase activity, transferring glycosyl groups GO:0016757 9.13 APRT HPRT1 PNP
2 cAMP binding GO:0030552 8.62 RAPGEF3 RAPGEF4

Sources for Lesch-Nyhan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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