MCID: LSC001
MIFTS: 64

Lesch-Nyhan Syndrome malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases categories

Aliases & Classifications for Lesch-Nyhan Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Lesch-Nyhan Syndrome:

Name: Lesch-Nyhan Syndrome 49 10 11 68 21 45 23 46 47 12 51 65 36 67
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency 10 45 22 23
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 10 68 23
Lesch Nyhan Disease 45 22 24
Hgprt Deficiency 21 22 23
Hprt Deficiency 21 45 22
Lns 45 23 67
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency 68 23
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome 68 23
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 10 21
X-Linked Uric Aciduria Enzyme Defect 68 23
Juvenile Hyperuricemia Syndrome 68 23
X-Linked Primary Hyperuricemia 68 23
Primary Hyperuricemia Syndrome 68 23
Complete Hprt Deficiency 68 23
X-Linked Hyperuricemia 10 23
Total Hprt Deficiency 68 23
Lesch-Nyhan Disease 21 23
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv 51
 
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency 51
Hprt - Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency 68
Hypoxanthine Guanine Phospho-Ribosyltransferase 1 Deficiency 45
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency 10
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome 68
Deficiency of Hypoxanthine Phosphoribosyltransferase 23
Hypoxanthine Phosphoribosyltransferse Deficiency 68
Hypoxanthine Phosphoribosyltransferase Deficiency 23
Deficiency of Guanine Phosphoribosyltransferase 23
Choreoathetosis Self-Mutilation Syndrome 23
Deficiency of Imp Pyrophosphorylase 10
Hprt Deficiency, Complete 45
Hprt Complete Deficiency 51
Hprt Deficiency Grade Iv 51
Lesch - Nyhan Syndrome 10
Lesch Nyhan Syndrome 45
Hg-Prt Deficiency 10
Hprt1 Deficiency 45
Lnd 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
lesch-nyhan syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy


External Ids:

OMIM49 300322
Disease Ontology10 DOID:1919
NCIt42 C61255
MeSH36 D007926
Orphanet51 510
ICD10 via Orphanet28 E79.1
MESH via Orphanet37 D007926
UMLS via Orphanet66 C0023374
ICD1027 E79.0, E79.1

Summaries for Lesch-Nyhan Syndrome

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NIH Rare Diseases:45 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

MalaCards based summary: Lesch-Nyhan Syndrome, also known as hypoxanthine guanine phosphoribosyltransferase deficiency, is related to hprt-related gout and phosphoribosylpyrophosphate synthetase superactivity, and has symptoms including behavioral abnormality, hypertonia and arthritis. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include kidney, skin and brain, and related mouse phenotypes are reproductive system and muscle.

Genetics Home Reference:23 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:46 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme (HPRT. LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.

UniProtKB/Swiss-Prot:67 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.

Description from OMIM:49 300322

GeneReviews summary for lns

Related Diseases for Lesch-Nyhan Syndrome

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Diseases related to Lesch-Nyhan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1hprt-related gout28.5ADSL, APP, APRT, FGA, HPRT1, NGF
2phosphoribosylpyrophosphate synthetase superactivity10.6
3autism susceptibility, x-linked 210.6
4metabolic syndrome x10.6
5central nervous system disease10.6
6prion disease10.6
7pyrimidine metabolic disorder10.6
8x-linked disease10.6
9genetic brain disorders10.6
10intellectual disability10.6
11encephalopathy10.6
12neuroblastoma10.6
13hyperuricemia10.6
14conduct disorder10.5
15nervous system disease10.5
16hypoxanthine guanine phosphoribosyltransferase partial deficiency10.5
17gout10.5
18neuronitis10.5
19xanthinuria10.5
20anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.5
21williams-beuren syndrome10.5
22mental retardation, x-linked 10110.5
23mental retardation, x-linked 310.5
24nutritional deficiency disease10.4
25adenosine deaminase deficiency10.3
26deficiency anemia10.3
27orotic aciduria10.3
28phenylketonuria10.3
29cerebral palsy10.3
30nephrolithiasis10.3
31cerebritis10.3
32cervicitis10.3
33herpes simplex10.3
34hypothyroidism10.3
35pulmonary embolism10.3
36purine-pyrimidine metabolic disorder10.3
37neurologic diseases10.3
38athetosis10.3
39hereditary hyperuricemia10.3
40neonatal hypothyroidism10.3
41atlantoaxial subluxation10.3
42mental retardation, x-linked 10210.3
43mental retardation, x-linked 10010.3
44child syndrome10.3
45brain injury10.3
46amino acid metabolic disorder10.3
47brucellosis10.3
48mitochondrial metabolism disease10.3
49mouth disease10.3
50movement disease10.3

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



Diseases related to lesch-nyhan syndrome

Symptoms for Lesch-Nyhan Syndrome

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Symptoms by clinical synopsis from OMIM:

300322

Clinical features from OMIM:

300322

Symptoms:

 51 (show all 11)
  • movement disorder
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • arthritis/synovitis/synovial proliferation
  • hyperuricemia
  • x-linked recessive inheritance
  • renal failure
  • hematuria/microhematuria
  • anaemia

HPO human phenotypes related to Lesch-Nyhan Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 hypertonia hallmark (90%) HP:0001276
3 arthritis hallmark (90%) HP:0001369
4 hyperuricemia hallmark (90%) HP:0002149
5 hemiplegia/hemiparesis hallmark (90%) HP:0004374
6 abnormality of movement hallmark (90%) HP:0100022
7 cognitive impairment hallmark (90%) HP:0100543
8 renal insufficiency typical (50%) HP:0000083
9 hematuria typical (50%) HP:0000790
10 anemia typical (50%) HP:0001903
11 testicular atrophy HP:0000029
12 nephrolithiasis HP:0000787
13 intellectual disability HP:0001249
14 muscular hypotonia HP:0001252
15 spasticity HP:0001257
16 dysarthria HP:0001260
17 choreoathetosis HP:0001266
18 motor delay HP:0001270
19 dystonia HP:0001332
20 hyperreflexia HP:0001347
21 x-linked recessive inheritance HP:0001419
22 gout (feet) HP:0001854
23 megaloblastic anemia HP:0001889
24 vomiting HP:0002013
25 dysphagia HP:0002015
26 abnormality of extrapyramidal motor function HP:0002071
27 opisthotonus HP:0002179
28 hyperuricosuria HP:0003149
29 short stature HP:0004322

Drugs & Therapeutics for Lesch-Nyhan Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 3, Phase 1281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2ecopipamPhase 3, Phase 16

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan DiseaseTerminatedNCT01751802Phase 3
2Trial of Kuvan in Lesch-Nyhan DiseaseWithdrawnNCT00935753Phase 2, Phase 3
3Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan DiseaseCompletedNCT00004314Phase 2
4Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan DiseaseCompletedNCT01065558Phase 1

Search NIH Clinical Center for Lesch-Nyhan Syndrome


Cochrane evidence based reviews: Lesch-Nyhan Syndrome

Genetic Tests for Lesch-Nyhan Syndrome

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Genetic tests related to Lesch-Nyhan Syndrome:

id Genetic test Affiliating Genes
1 Lesch-Nyhan Syndrome22 24 HPRT1

Anatomical Context for Lesch-Nyhan Syndrome

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MalaCards organs/tissues related to Lesch-Nyhan Syndrome:

33
Kidney, Skin, Brain, Globus pallidus, Liver, Spinal cord, Myeloid

Animal Models for Lesch-Nyhan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1APP, APRT, FGA, HPRT1, SLC6A3
2MP:00053698.1APP, HPRT1, NGF, SLC6A3, XDH
3MP:00053787.6APP, APRT, HPRT1, NGF, SLC6A3, XDH
4MP:00053877.6APP, APRT, FGA, HPRT1, PNP, XDH
5MP:00107716.9APP, APRT, FGA, HPRT1, NGF, SLC6A3
6MP:00107686.7APP, APRT, FGA, HPRT1, NGF, PNP
7MP:00053766.4APP, APRT, FGA, HPRT1, NGF, PNP

Publications for Lesch-Nyhan Syndrome

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Articles related to Lesch-Nyhan Syndrome:

(show top 50)    (show all 366)
idTitleAuthorsYear
1
Recurrent thrombosis in a patient with Lesch-Nyhan syndrome. (24530950)
2014
2
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child. (24503445)
2014
3
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome. (22350962)
2012
4
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. (21331772)
2011
5
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. (22132985)
2011
6
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. (18992978)
2009
7
Lesch-Nyhan syndrome: a case report. (18974538)
2008
8
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. (17701224)
2008
9
Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap. (16537260)
2006
10
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. (11668636)
2001
11
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome. (11783490)
2000
12
Gabapentin for self-injurious behavior in Lesch-Nyhan syndrome. (10371385)
1999
13
Relationship of dopamine to serotonin in the neonatal 6-OHDA rat model of Lesch-Nyhan syndrome. (10780253)
1999
14
Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome. (9670994)
1998
15
Polysomnographic studies of Lesch-Nyhan syndrome. (9865540)
1998
16
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. (9211189)
1997
17
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. (9288634)
1997
18
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA). (9088115)
1996
19
Cognitive functioning in Lesch-Nyhan syndrome. (7672468)
1995
20
Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. (8163858)
1994
21
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (8381385)
1993
22
Lesch-Nyhan syndrome in a girl. (1434518)
1992
23
Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. (1393404)
1992
24
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis. (1781404)
1991
25
Clinical quiz. Lesch-Nyhan syndrome. (1768590)
1991
26
Recurrent coma and Lesch-Nyhan syndrome. (1764145)
1991
27
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). (2624182)
1989
28
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism. (2502677)
1989
29
Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk. (2798351)
1989
30
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). (3265398)
1988
31
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (3076300)
1988
32
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. (3148065)
1988
33
Effective behavioral treatment of self-biting by a child with Lesch-Nyhan syndrome. (3678633)
1987
34
Lesch-Nyhan syndrome: mutation, prevention, and therapy. (3330841)
1987
35
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations. (7111674)
1982
36
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. (6117011)
1981
37
The orofacial manifestations of the Lesch-Nyhan syndrome. (6807929)
1981
38
Protein variations associated with Lesch-Nyhan syndrome. (6947238)
1981
39
The Lesch-Nyhan syndrome: report of case. (284029)
1979
40
The Lesch-Nyhan syndrome: a family study. (272569)
1977
41
Letter: Self mutilation in Lesch-Nyhan syndrome. (4132504)
1974
42
Growth retardation in the Lesch-Nyhan syndrome. (4363845)
1974
43
The Lesch-Nyhan syndrome: report of three cases. (4502719)
1972
44
The Lesch-Nyhan syndrome. (5491543)
1970
45
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. (5263751)
1970
46
Possible mechanism for increased purine biosynthesis de novo in Lesch-Nyhan syndrome. (4298063)
1968
47
Megaloblastic anaemia in the Lesch-Nyhan syndrome. (4173010)
1968
48
Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome. (4298064)
1968
49
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. (5658470)
1968
50
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. (5658468)
1968

Variations for Lesch-Nyhan Syndrome

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

67 (show all 35)
id Symbol AA change Variation ID SNP ID
1HPRT1p.Val8GlyVAR_006751
2HPRT1p.Gly16AspVAR_006752
3HPRT1p.Leu41ProVAR_006756
4HPRT1p.Ile42PheVAR_006757
5HPRT1p.Ile42ThrVAR_006758
6HPRT1p.Arg45LysVAR_006760
7HPRT1p.Ala50ValVAR_006762
8HPRT1p.Ala50ProVAR_006763
9HPRT1p.Arg51ProVAR_006765
10HPRT1p.Met54LeuVAR_006769
11HPRT1p.Met57ThrVAR_006770
12HPRT1p.Gly70GluVAR_006773
13HPRT1p.Gly71ArgVAR_006774
14HPRT1p.Phe74LeuVAR_006775
15HPRT1p.Val130AspVAR_006780
16HPRT1p.Leu131SerVAR_006781
17HPRT1p.Ile132ThrVAR_006783
18HPRT1p.Met143LysVAR_006785
19HPRT1p.Ser162ArgVAR_006788
20HPRT1p.Pro176LeuVAR_006790
21HPRT1p.Asp177ValVAR_006791
22HPRT1p.Asp177TyrVAR_006792
23HPRT1p.Asp194AsnVAR_006798
24HPRT1p.Phe199ValVAR_006800
25HPRT1p.Asp201TyrVAR_006803
26HPRT1p.His204AspVAR_006804
27HPRT1p.His204ArgVAR_006805
28HPRT1p.Cys206TyrVAR_006806
29HPRT1p.Asp44TyrVAR_071611
30HPRT1p.Ala64ProVAR_071613
31HPRT1p.Leu65ProVAR_071614
32HPRT1p.Tyr72CysVAR_071615
33HPRT1p.Leu78GlnVAR_071616
34HPRT1p.Leu147ProVAR_071619
35HPRT1p.Lys159GluVAR_071620

Clinvar genetic disease variations for Lesch-Nyhan Syndrome:

5 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1HPRT CHICAGOinsertionPathogenic
2HPRT1HPRT CONNERSVILLEdeletionPathogenic
3HPRT1NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro)single nucleotide variantPathogenicrs137852480GRCh37Chr X, 133607483: 133607483
4HPRT1NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs)deletionPathogenicrs387906428GRCh37Chr X, 133634093: 133634113
5HPRT1NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu)single nucleotide variantPathogenicrs137852481GRCh37Chr X, 133609298: 133609298
6HPRT1NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn)single nucleotide variantPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
7HPRT1HPRT MICHIGANdeletionPathogenic
8HPRT1NM_000194.2(HPRT1): c.389T> A (p.Val130Asp)single nucleotide variantPathogenicrs137852483GRCh37Chr X, 133624222: 133624222
9HPRT1NM_000194.2(HPRT1): c.595T> G (p.Phe199Val)single nucleotide variantPathogenicrs137852486GRCh37Chr X, 133632700: 133632700
10HPRT1NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu)single nucleotide variantPathogenicrs137852487GRCh37Chr X, 133609285: 133609285
11HPRT1NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter)single nucleotide variantPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
12HPRT1NM_000194.2(HPRT1): c.610C> G (p.His204Asp)single nucleotide variantPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
13HPRT1NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys)single nucleotide variantPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
14HPRT1NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr)single nucleotide variantPathogenicrs137852492GRCh37Chr X, 133632463: 133632463
15HPRT1HPRT, 2-BP DEL, GTdeletionPathogenic
16HPRT1HPRT, 1-BP DEL, TTA-TAdeletionPathogenic
17HPRT1HPRT, 1-BP DEL, TTG-TGdeletionPathogenic
18HPRT1HPRT, 40-BP DELdeletionPathogenic
19HPRT1HPRT, IVS8DS, G-A, +5single nucleotide variantPathogenic
20HPRT1NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTTindelPathogenicrs672601245GRCh37Chr X, 133634056: 133634058
21HPRT1HPRT, IVS7DS, G-A, +5single nucleotide variantPathogenic
22HPRT1HPRT, IVS1AS, A-T, -2single nucleotide variantPathogenic
23HPRT1NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu)single nucleotide variantPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
24HPRT1NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter)single nucleotide variantPathogenicrs137852494GRCh37Chr X, 133609227: 133609227
25HPRT1NM_000194.2(HPRT1): c.428T> A (p.Met143Lys)single nucleotide variantPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
26HPRT1NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter)single nucleotide variantPathogenicrs137852497GRCh37Chr X, 133632442: 133632442
27HPRT1HPRT, EX2DELdeletionPathogenic
28HPRT1HPRT, EX4-9DELdeletionPathogenic
29HPRT1NG_012329.1: g.(38034_38038)_(46028_46032)deldeletionPathogenicGRCh38Chr X, 134493178: 134501176
30HPRT1HPRT, EX9DELdeletionPathogenic
31HPRT1HPRT, DELdeletionPathogenic
32HPRT1HPRT,1-BP INS, 207GinsertionPathogenic
33HPRT1HPRT, INV/DEL, EX6-9deletionPathogenic
34HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenic
35HPRT1HPRT CHERMSIDEdeletionPathogenic
36HPRT1HPRT COORPAROOinsertionPathogenic
37HPRT1NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp)single nucleotide variantPathogenicrs137852503GRCh37Chr X, 133627554: 133627554
38HPRT1NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter)single nucleotide variantPathogenicrs137852505GRCh37Chr X, 133627594: 133627594
39HPRT1NM_000194.2(HPRT1): c.-707_27+2236deldeletionPathogenicGRCh38Chr X, 134459605: 134462608
40HPRT1NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs)duplicationPathogenicrs786200980GRCh37Chr X, 133609288: 133609288

Expression for genes affiliated with Lesch-Nyhan Syndrome

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Search GEO for disease gene expression data for Lesch-Nyhan Syndrome.

Pathways for genes affiliated with Lesch-Nyhan Syndrome

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GO Terms for genes affiliated with Lesch-Nyhan Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.9APP, FGA
2cytosolGO:00058298.0ADSL, APP, APRT, HPRT1, PNP, XDH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1purine ribonucleoside salvageGO:000616610.5APRT, HPRT1
2adenine salvageGO:000616810.5APRT, HPRT1
3purine nucleotide biosynthetic processGO:000616410.3ADSL, HPRT1
4purine nucleotide catabolic processGO:000619510.3PNP, XDH
5grooming behaviorGO:000762510.1APRT, HPRT1
6nucleoside metabolic processGO:000911610.0APRT, HPRT1, PNP
7platelet degranulationGO:00025769.8APP, FGA
8purine-containing compound salvageGO:00431019.8APRT, HPRT1, PNP
9neuron apoptotic processGO:00514029.6APP, NGF
10lactationGO:00075959.5APRT, SLC6A3, XDH
11locomotory behaviorGO:00076269.2APP, HPRT1, SLC6A3
12purine nucleobase metabolic processGO:00061448.9ADSL, APRT, HPRT1, PNP, XDH
13small molecule metabolic processGO:00442818.6ADSL, APRT, HPRT1, PNP, XDH
14nucleobase-containing small molecule metabolic processGO:00550868.5ADSL, APRT, HPRT1, PNP, XDH

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051028.5APP, FGA, NGF

Sources for Lesch-Nyhan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet