TD
MCID: GLL008
MIFTS: 70

Gilles De La Tourette Syndrome (TD) malady

Genetic diseases, Rare diseases, Mental diseases, Fetal diseases categories

Summaries for Gilles De La Tourette Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Tourette syndrome is a disorder of the nervous system that causes a person to make repeated and uncontrolled (involuntary) movements and sounds (vocalizations) called tics. tourette syndrome is named for georges gilles de la tourette, who first described this disorder in 1885. there is strong evidence that tourette syndrome is passed down through families, although the gene has not yet been found. the syndrome may be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. tourette syndrome can be either severe or mild. it is estimated that about 1% of the population has tourette syndrome. many people with very mild tics may not be aware of them and never seek medical help.   tourette syndrome is four times as likely to occur in boys as in girls.  although tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. last updated: 7/14/2011

MalaCards: Gilles De La Tourette Syndrome, also known as tourette syndrome, is related to schizophrenia and attention deficit hyperactivity disorder. An important gene associated with Gilles De La Tourette Syndrome is SLITRK1 (SLIT and NTRK-like family, member 1), and among its related pathways is Monoamine GPCRs. The drugs clonidine and haloperidol and the compounds methyldopa and zuclopenthixol have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Disease Ontology:9 A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.

Genetics Home Reference:22 Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.

MedlinePlus:35 If you have tourette syndrome, you make unusual movements or sounds, called tics. you have little or no control over them. common tics are throat-clearing and blinking. you may repeat words, spin, or, rarely, blurt out swear words. tourette syndrome is a disorder of the nervous system. it often occurs with other problems, such as attention deficit hyperactivity disorder (adhd) obsessive-compulsive disorder (ocd) anxiety depression the cause of tourette syndrome is unknown. it is more common in boys than girls. the tics usually start in childhood and may be worst in the early teens. many people eventually outgrow them. no treatment is needed unless the tics interfere with everyday life. excitement or worry can make tics worse. calm, focused activities may make them better. medicines and talk therapy may also help. nih: national institute of neurological disorders and stroke

NINDS:45 Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.

Wikipedia:66 Tourette syndrome (also called Tourette\'s syndrome, Tourette\'s disorder, Gilles de la Tourette... more...

Description from OMIM:48 137580

GeneReviews summary for tourette

Aliases & Classifications for Gilles De La Tourette Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 28ICD9CM, 36MeSH, 59SNOMED-CT, 41NCIt, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Mental diseases


Aliases & Descriptions:

gilles de la tourette syndrome 9 20 22 48 11 63
tourette syndrome 9 10 20 44 22 45 48 46 35
tourette's syndrome 44 21 23
tourette disorder 20 44 22
gilles de la tourette's syndrome 44 22
chronic motor and vocal tic disorder 22
thanatophoric dysplasia, type i 63
motor-verbal tic disorder 9
tourette's disease 22
guinon's disease 9
psychogenic tics 9
maladie de tics 20
gts 22
ts 22
td 22


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Disease Ontology9 DOID:11119
ICD9CM28 307.23
MeSH36 D005879
NCIt41 C35078
OMIM48 137580
ICD1026 F95.1

Related Diseases for Gilles De La Tourette Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Gilles De La Tourette Syndrome:



Diseases related to gilles de la tourette syndrome

Symptoms for Gilles De La Tourette Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

137580

Clinical features from OMIM:

137580

Drugs & Therapeutics for Gilles De La Tourette Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Gilles De La Tourette Syndrome

Search NIH Clinical Center for Gilles De La Tourette Syndrome

Search CenterWatch for Gilles De La Tourette Syndrome

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Gilles De La Tourette Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Gilles De La Tourette Syndrome:

id Genetic test Affiliating Genes
1 Tourette Syndrome21 23 SLITRK1

Anatomical Context for Gilles De La Tourette Syndrome

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34MalaCards
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MalaCards organs/tissues related to Gilles De La Tourette Syndrome:

34
Brain, Eye, Cortex, Globus pallidus, Thalamus

Animal Models for Gilles De La Tourette Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Gilles De La Tourette Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8TBXA2R, DRD5, ADRA2A, ISL1, SGCE
2MP:00053866.9HDC, SGCE, ISL1, ADRA2A, CNTNAP2, ROBO3
3MP:00036316.7SLITRK1, HDC, SGCE, ISL1, ADRA2A, CNTNAP2

Publications for Gilles De La Tourette Syndrome

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53PubMed
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Articles related to Gilles De La Tourette Syndrome:

(show top 50)    (show all 301)
idTitleAuthorsYear
1
The psychopathological spectrum of Gilles de la Tourette syndrome. (23131314)
2013
2
The pathophysiology of echopraxia/echolalia: relevance to Gilles de la Tourette syndrome. (22807284)
2012
3
Echoes from childhood--imitation in Gilles de la Tourette Syndrome. (22278950)
2012
4
Quality of life in adults with Gilles de la Tourette Syndrome. (22888766)
2012
5
Delayed experience of volition in Gilles de la Tourette syndrome. (21212106)
2011
6
Reinforcement learning and Gilles de la Tourette syndrome: dissociation of clinical phenotypes and pharmacological treatments. (22147843)
2011
7
"Trousseau's disease:" a description of the Gilles de la Tourette syndrome 12 years before 1885. (20672342)
2010
8
Imitation in patients with Gilles de la Tourette syndrome--a behavioral study. (20535824)
2010
9
Oral delta 9-tetrahydrocannabinol improved refractory Gilles de la Tourette syndrome in an adolescent by increasing intracortical inhibition: a case report. (20520294)
2010
10
Neurosurgical treatment for Gilles de la Tourette syndrome: the Italian perspective. (19913662)
2009
11
The behavioral spectrum of Gilles de la Tourette syndrome. (19359447)
2009
12
The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 2: tentative explanations for differing prevalence figures in GTS, including the possible effects of psychopathology, aetiology, cultural differences, and differing phenotypes. (18940378)
2008
13
The Gilles de la Tourette syndrome-quality of life scale (GTS-QOL): development and validation. (18955683)
2008
14
Analysis of the dopamine beta hydroxylase gene in Gilles de la Tourette syndrome. (16838359)
2006
15
Perceptual-motor skill learning in Gilles de la Tourette syndrome. Evidence for multiple procedural learning and memory systems. (15989936)
2005
16
Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome. (16314763)
2005
17
Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region. (15303240)
2004
18
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. (12682296)
2003
19
Obsessive-compulsive symptom dimensions in affected sibling pairs diagnosed with Gilles de la Tourette syndrome. (12497616)
2003
20
Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. (11304830)
2001
21
Home alone: methods to maximize tic expression for objective videotape assessments in Gilles de la Tourette syndrome. (11481693)
2001
22
Dopamine D2 receptor imaging in Gilles de la Tourette syndrome. (10705938)
2000
23
A perplexing document in the early history of Gilles de la Tourette Syndrome: Melotti's rendition of a "Lecture of Charcot" (including a complete translation from the Italian with commentary). (11624136)
1999
24
Genome scan for linkage to Gilles de la Tourette syndrome. (10402514)
1999
25
Gilles de la Tourette syndrome with schizophrenia and obsessive-compulsive disorder: a case report. (10570769)
1999
26
Gilles de la Tourette syndrome. (9749024)
1998
27
Obsessive compulsive symptoms in Gilles de la Tourette syndrome and obsessive compulsive disorder: differences by diagnosis and family history. (9259380)
1997
28
Gilles de la Tourette syndrome. (9488798)
1997
29
Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome. (8030670)
1994
30
Coprolalia in younger patients with Gilles de la Tourette syndrome. (7845402)
1994
31
Blunted growth hormone response to clonidine in Gilles de la Tourette syndrome. (8047638)
1994
32
Can children with Gilles de la Tourette syndrome edit their intentions? (8208891)
1994
33
The metabolic effects of limbic leucotomy in Gilles de la Tourette syndrome. (8410025)
1993
34
Atypical presentation of Gilles de la Tourette syndrome. (1562883)
1992
35
Non-invasive assessment of autonomic nervous function in Gilles de la Tourette syndrome. (1324814)
1992
36
Reflex tics in two patients with Gilles de la Tourette syndrome. (1790463)
1991
37
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. (2395161)
1990
38
Management of Gilles de la Tourette syndrome using sulpiride. (2357704)
1990
39
The Gilles de la Tourette syndrome: the current status. (2673473)
1989
40
Psychopathology and movement disorders: a new perspective on the Gilles de la Tourette syndrome. (2666582)
1989
41
Detection of major gene for Gilles de la Tourette syndrome. (6587774)
1984
42
Serum haloperidol levels in Gilles de la Tourette syndrome. (6939449)
1981
43
Increased body movements during sleep in Gilles de la Tourette syndrome. (6942662)
1981
44
Gilles de la Tourette syndrome and compressive neuropathies. (6933884)
1980
45
Noradrenergic and dopaminergic mechanisms in Gilles de la Tourette syndrome. (76814)
1978
46
Purine phosphoribosyltransferase in gilles de la Tourette syndrome. (299777)
1977
47
Gilles de la Tourette syndrome: a case study. (812017)
1975
48
Clinical dangers of psychological theorizing. The Gilles de la Tourette syndrome. (5291647)
1971
49
Haloperidol for the Gilles de la Tourette syndrome. (5262166)
1970
50
GILLES DE LA TOURETTE SYNDROME IN AN AUTISTIC CHILD. (14338424)
1965

Variations for Gilles De La Tourette Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gilles De La Tourette Syndrome:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1HDCNM_002112.3(HDC): c.951G> A (p.Trp317Ter)single nucleotide variantPathogenicrs267606861GRCh37Chr 15, 50544717: 50544717
2SLITRK1NM_052910.2(SLITRK1): c.1264delC (p.Leu422Phefs)deletionPathogenicrs193302861GRCh37Chr 13, 84454379: 84454379
3SLITRK1NM_052910.2(SLITRK1): c.*689G> Asingle nucleotide variantPathogenicrs191284403GRCh37Chr 13, 84452863: 84452863
4FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
5FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
6FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
7FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
8FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
9FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
10FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
11FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
12FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
13FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
14FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
15FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
16FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Gilles De La Tourette Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gilles De La Tourette Syndrome

Search GEO for disease gene expression data for Gilles De La Tourette Syndrome.

Pathways for genes affiliated with Gilles De La Tourette Syndrome

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51PathCards, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Gilles De La Tourette Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7DRD5, ADRA2A

Compounds for genes affiliated with Gilles De La Tourette Syndrome

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46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB
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Compounds related to Gilles De La Tourette Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1methyldopa46 1211.1ADRA2A, HDC
2zuclopenthixol46 52 1212.1DRD5, ADRA2A
3fenoldopam46 1211.1ADRA2A, DRD5
4methylphenidate46 52 1212.0ADRA2A, DRD5
5ropinirole46 1211.0DRD5, ADRA2A
6lisuride46 30 1212.0DRD5, ADRA2A
7pergolide46 30 1212.0ADRA2A, DRD5
8pramipexole46 30 52 1213.0DRD5, ADRA2A
9cabergoline46 30 1212.0DRD5, ADRA2A
10aripiprazole30 46 52 25 1214.0ADRA2A, DRD5
11ziprasidone30 52 46 1213.0DRD5, ADRA2A
12apomorphine30 46 1211.9DRD5, ADRA2A
13quetiapine46 52 30 25 1213.9ADRA2A, DRD5
14bromocriptine46 30 1211.9DRD5, ADRA2A
15chlorpromazine30 46 52 1212.9DRD5, ADRA2A
16olanzapine46 52 30 25 1213.8ADRA2A, DRD5
17levodopa46 1210.7HDC, DRD5
18catecholamine469.7DRD5, ADRA2A
19dopamine46 30 25 1212.5DRD5, ADRA2A, HDC
20clozapine46 30 52 1212.4DRD5, ADRA2A
21thromboxane a246 2510.2TBXA2R, ADRA2A
22cyclic amp46 259.9TBXA2R, DRD5, ADRA2A, HDC

GO Terms for genes affiliated with Gilles De La Tourette Syndrome

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17Gene Ontology
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Cellular components related to Gilles De La Tourette Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058877.8TBXA2R, DRD5, HTR3B, ADRA2A, SGCE

Biological processes related to Gilles De La Tourette Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmission of nerve impulseGO:0192269.7DRD5, CNTNAP2
2adult behaviorGO:0305349.6SLITRK1, CNTNAP2
3positive regulation of angiogenesisGO:0457669.1TBXA2R, ISL1

Products for genes affiliated with Gilles De La Tourette Syndrome

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Sources for Gilles De La Tourette Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet