| H00862 | |
| H number | H00862 |
| Name | Tourette syndrome |
| Description | Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated with TS. The SLITRK1 gene is expressed in brain regions and it appears to play a role in dendritic growth. Another possible rare genetic cause of TS is a mutation in the HDC gene. The HDC gene encodes for L-histidine decarboxylase, which is the rate-limiting enzyme that catalyzes the biosynthesis of histamine from histidine. |
| Category | Mental and behavioural disorder |
| Network | nt06037(H00862) Histidine metabolism |
| Gene | SLITRK1 [HSA:114798] [KO:K25832] HDC [HSA:3067] [KO:K01590] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Haloperidol [DR:D00136] Haloperidol lactate [DR:D08035] Pimozide [DR:D00560] |
| Comment | - |
| Other DBs | ICD-11: 8A05.00 ICD-10: F95.2 MeSH: D005879 OMIM: 137580 |
| Reference | PMID:21277193 AUTHORS State MW TITLE The genetics of Tourette disorder. JOURNAL Curr Opin Genet Dev 21:302-9 (2011) DOI:10.1016/j.gde.2011.01.007 PMID:21386676 AUTHORS Bloch M, State M, Pittenger C TITLE Recent advances in Tourette syndrome. JOURNAL Curr Opin Neurol 24:119-25 (2011) DOI:10.1097/WCO.0b013e328344648c PMID:16224024 (SLITRK1) AUTHORS Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW TITLE Sequence variants in SLITRK1 are associated with Tourette's syndrome. JOURNAL Science 310:317-20 (2005) DOI:10.1126/science.1116502 PMID:20445167 (HDC) AUTHORS Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW TITLE L-histidine decarboxylase and Tourette's syndrome. JOURNAL N Engl J Med 362:1901-8 (2010) DOI:10.1056/NEJMoa0907006 |