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| Term ID: | 11169 |
| Name: | Tourette Syndrome |
| Definition: | A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79) |
| Alternative IDs: | OMIM:137580 |
| ParentIDs: | MESH:D001480|MESH:D013981|MESH:D020271 |
| TreeNumbers: | C10.228.140.079.898 |C10.228.662.825.800 |C10.574.500.850 |C16.320.400.820 |F03.550.825.850 |
| Synonyms: | Chronic Motor and Vocal Tic Disorder |Combined Multiple Motor and Vocal Tic Disorder |Combined Vocal and Multiple Motor Tic Disorder |Gilles de la Tourette's Disease |Gilles De La Tourette's Syndrome |Gilles de la Tourette Syndrome |GTS |Multiple Motor and Voca |
| Slim Mappings: | Genetic disease (inborn)|Mental disorder|Nervous system disease |
| Reference: |
MedGen: D005879
MeSH: D005879
OMIM: 137580;
Genes: AF8T; HDC; SLITRK1; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_002112.3(HDC):c.951G>A (p.Trp317Ter) | 3067 | HDC | Pathogenic | 267606861 | RCV000016047; | N | Gene:2973,MedGen:C0040517,OMIM:137580 | 15 | 50544717 | 50544717 | NM_002112.3:c.951G>A | NP_002103.2:p.Trp317Ter | NC_000015.9:g.50544717C>T | OMIM Allelic Variant:142704.0001 | C0040517 137580 Tourette Syndrome | | | | NM_052910.2(SLITRK1):c.*689G>A | 114798 | SLITRK1 | Pathogenic | 191284403 | RCV000001646; | N | Gene:2973,MedGen:C0040517,OMIM:137580 | 13 | 84452863 | 84452863 | NM_052910.2:c.*689G>A | | NC_000013.10:g.84452863C>T | OMIM Allelic Variant:609678.0002 | C0040517 137580 Tourette Syndrome | | | | NM_052910.2(SLITRK1):c.1264delC (p.Leu422Phefs) | 114798 | SLITRK1 | Pathogenic | 193302861 | RCV000001644; RCV000001645; | N | Gene:2973,MedGen:C0040517,OMIM:137580; MedGen:C0040953,OMIM:613229 | 13 | 84454379 | 84454379 | NM_052910.2:c.1264delC | NP_443142.1:p.Leu422Phefs | NC_000013.10:g.84454379delG | OMIM Allelic Variant:609678.0001 | C0040517 137580 Tourette Syndrome; C0040953 613229 Trichotillomania | | |
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Tourette Syndrome 
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