LNS
MCID: LSC001
MIFTS: 61

Lesch-Nyhan Syndrome (LNS) malady

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

Aliases & Classifications for Lesch-Nyhan Syndrome

Aliases & Descriptions for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 54 12 71 23 50 24 25 51 56 66 13 52 42 14 69
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 12 50 25
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 23 24
Lesch-Nyhan Disease 23 24 25
Hgprt Deficiency 23 24 25
Hprt Deficiency 23 50 24
Lns 50 25 66
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 12 25
Lesch Nyhan Disease 50 29
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [ambiguous] 12
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 56
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 56
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 25
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 50
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
X-Linked Hyperuricemia [ambiguous] 12
Juvenile Hyperuricemia Syndrome 25
Primary Hyperuricemia Syndrome 25
X-Linked Primary Hyperuricemia 25
Hprt Deficiency, Complete 50
Complete Hprt Deficiency 25
Hprt Complete Deficiency 56
Hprt Deficiency Grade Iv 56
Lesch - Nyhan Syndrome 12
X-Linked Hyperuricemia 25
Total Hprt Deficiency 25
Lesch Nyhan Syndrome 50
Hg-Prt Deficiency 12
Hprt1 Deficiency 50
Lnd 25

Characteristics:

Orphanet epidemiological data:

56
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy;

HPO:

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


Classifications:



External Ids:

OMIM 54 300322
Disease Ontology 12 DOID:1919
ICD10 33 E79.1 E79.0
MeSH 42 D007926
NCIt 47 C61255
Orphanet 56 ORPHA510
MESH via Orphanet 43 D007926
UMLS via Orphanet 70 C0023374
ICD10 via Orphanet 34 E79.1
UMLS 69 C0023374

Summaries for Lesch-Nyhan Syndrome

NINDS : 51 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

MalaCards based summary : Lesch-Nyhan Syndrome, also known as hypoxanthine guanine phosphoribosyltransferase deficiency, is related to hprt-related gout and hereditary 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 (KEGG) and purine nucleotides de novo biosynthesis. 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 : 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.

NIH Rare Diseases : 50 lesch nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. it occurs almost exclusively in males. signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). people with lesch nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. lesch nyhan syndrome is caused by changes (mutations) in the hprt1 gene and is inherited in an x-linked recessive manner. treatment is symptomatic and supportive. affected people often do not survive past the first or second decade of life due to renal failure. last updated: 1/13/2015

UniProtKB/Swiss-Prot : 66 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Wikipedia : 71 Lesch–Nyhan syndrome (LNS), also known as Nyhan syndrome and juvenile gout, is a rare inherited... 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 all 40)
id Related Disease Score Top Affiliating Genes
1 hprt-related gout 11.2
2 hereditary hyperuricemia 11.2
3 hyperuricemia 10.3
4 neuroblastoma 10.3
5 dent disease 2 10.2 APRT HPRT1
6 xanthinuria 10.2
7 gout 10.2
8 neuronitis 10.2
9 lattice corneal dystrophy type ii 10.2 APRT XDH
10 persistent hyperplastic primary vitreous, autosomal recessive 10.1 HPRT1 XDH
11 mitochondrial dna depletion syndrome 6 10.1 APRT XDH
12 meier-gorlin syndrome 4 10.1 APRT HPRT1 XDH
13 noonan syndrome 9 10.0 APRT HPRT1 PNP
14 newborn respiratory distress syndrome 10.0 APRT HPRT1 XDH
15 nephrolithiasis 10.0
16 atlantoaxial subluxation 10.0
17 thrombosis 10.0
18 nephrocalcinosis 10.0
19 hypothyroidism 10.0
20 cervicitis 10.0
21 cerebritis 10.0
22 herpes simplex 10.0
23 orotic aciduria 10.0
24 pulmonary embolism 10.0
25 phenylketonuria 10.0
26 athetosis 10.0
27 cerebral palsy 10.0
28 neonatal hypothyroidism 10.0
29 morse-rawnsley-sargent syndrome 10.0 PNP XDH
30 meier-gorlin syndrome 5 9.9 APP SLC6A3
31 adenosine deaminase deficiency 9.9
32 epileptic encephalopathy, early infantile, 8 9.8 ADSL HPRT1 PNP
33 early yaws 9.8 APP NGF
34 lung cancer 9.8
35 substance-induced psychosis 9.8 APP NGF SLC6A3
36 epithelioid type angiomyolipoma 9.8 APP NGF SLC6A3
37 uv-sensitive syndrome 9.7 ADSL APRT HPRT1 XDH
38 lingual goiter 9.7 ADSL APRT HPRT1 XDH
39 posterior foramen magnum meningioma 9.6 ADSL APRT HPRT1 PNP XDH
40 combined oxidative phosphorylation deficiency 6 8.8 ADSL APP APRT HPRT1 NGF PNP

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 by clinical synopsis from OMIM:

300322

Clinical features from OMIM:

300322

Human phenotypes related to Lesch-Nyhan Syndrome:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 56 32 Very frequent (99-80%) HP:0001257
2 behavioral abnormality 56 32 Very frequent (99-80%) HP:0000708
3 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
4 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
5 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
6 anemia 56 32 Frequent (79-30%) HP:0001903
7 hemiplegia/hemiparesis 56 32 Very frequent (99-80%) HP:0004374
8 intellectual disability, moderate 56 32 Very frequent (99-80%) HP:0002342
9 hematuria 56 32 Frequent (79-30%) HP:0000790
10 gout 56 32 Very frequent (99-80%) HP:0001997
11 vomiting 32 HP:0002013
12 abnormality of extrapyramidal motor function 32 HP:0002071
13 dystonia 32 HP:0001332
14 opisthotonus 32 HP:0002179
15 intellectual disability 32 HP:0001249
16 muscular hypotonia 32 HP:0001252
17 dysarthria 32 HP:0001260
18 hyperreflexia 32 HP:0001347
19 dysphagia 32 HP:0002015
20 short stature 32 HP:0004322
21 hyperuricemia 56 Very frequent (99-80%)
22 testicular atrophy 32 HP:0000029
23 nephrolithiasis 32 HP:0000787
24 motor delay 32 HP:0001270
25 choreoathetosis 32 HP:0001266
26 megaloblastic anemia 32 HP:0001889
27 hyperuricosuria 32 HP:0003149
28 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.87 APP APRT HPRT1 NGF RAPGEF4 SLC6A3
2 integument MP:0010771 9.73 APP APRT HPRT1 NGF SLC6A3 XDH
3 mortality/aging MP:0010768 9.7 HPRT1 NGF SLC6A3 XDH ADSL APP
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)
id 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 Phase 3,Phase 1
3 Neurotransmitter Agents Phase 3,Phase 1
4 Tranquilizing Agents Phase 3,Phase 1
5 Dopamine Agents Phase 3,Phase 1
6 Dopamine Antagonists Phase 3,Phase 1
7 Psychotropic Drugs Phase 3,Phase 1
8 Antipsychotic Agents Phase 3,Phase 1
9 Central Nervous System Depressants Phase 3,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3
2 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3
3 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Completed NCT00004314 Phase 2
4 Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease Completed NCT01065558 Phase 1

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:

id Genetic test Affiliating Genes
1 Lesch-Nyhan Syndrome 29 24 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

39
Kidney, Skin, Brain, Liver, Globus Pallidus, Myeloid, Spinal Cord

Publications for Lesch-Nyhan Syndrome

Articles related to Lesch-Nyhan Syndrome:

(show top 50) (show all 377)
id Title Authors Year
1
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. ( 28357186 )
2017
2
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. ( 27379977 )
2016
3
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. ( 27920633 )
2016
4
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
5
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report. ( 27420966 )
2016
6
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. ( 27365935 )
2016
7
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome. ( 27833236 )
2016
8
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. ( 26398526 )
2015
9
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. ( 25965333 )
2015
10
Lesch-Nyhan Syndrome in an Indian Child. ( 26120162 )
2015
11
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. ( 24680827 )
2014
12
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. ( 24530950 )
2014
13
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
14
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. ( 24503445 )
2014
15
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review. ( 23597535 )
2013
16
Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. ( 23063963 )
2013
17
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
18
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622 )
2013
19
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. ( 22350962 )
2012
20
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
21
Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. ( 22183764 )
2012
22
An unanticipated difficult airway in Lesch-Nyhan syndrome. ( 22557752 )
2012
23
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. ( 21940691 )
2012
24
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. ( 22132985 )
2011
25
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. ( 21331772 )
2011
26
Clinical utility gene card for: Lesch-Nyhan syndrome. ( 20648055 )
2011
27
Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. ( 20695874 )
2010
28
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report. ( 20874729 )
2010
29
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. ( 21078074 )
2010
30
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. ( 18992978 )
2009
31
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. ( 17701224 )
2008
32
Lesch-Nyhan syndrome: a case report. ( 18974538 )
2008
33
Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome. ( 18520986 )
2008
34
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. ( 18287946 )
2008
35
Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. ( 17680274 )
2007
36
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. ( 18067674 )
2007
37
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. ( 17062485 )
2006
38
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. ( 16773422 )
2006
39
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome. ( 17065065 )
2006
40
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
41
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. ( 16537260 )
2006
42
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. ( 16903443 )
2006
43
Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome. ( 15838698 )
2005
44
Self-mutilation behaviour in Lesch-Nyhan syndrome. ( 16138897 )
2005
45
Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. ( 16138673 )
2005
46
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. ( 15711436 )
2005
47
Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. ( 16530134 )
2005
48
Self-mutilation in the Lesch-Nyhan syndrome. ( 16344506 )
2005
49
Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. ( 15571224 )
2004
50
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. ( 15140374 )
2004

Variations for Lesch-Nyhan Syndrome

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

66 (show all 35)
id 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 42)
id 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

Copy number variations for Lesch-Nyhan Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 ADSL APRT HPRT1 PNP XDH
2
Show member pathways
11.44 APRT HPRT1 PNP
3
Show member pathways
11.36 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

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

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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