| H00862 | |
| H番号 | H00862 |
| 名称 | トゥーレット症候群 |
| 概要 | 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. |
| カテゴリ | 精神及び行動の障害 |
| ネットワーク | nt06037(H00862) Histidine metabolism |
| 病因遺伝子 | SLITRK1 [HSA:114798] [KO:K25832] HDC [HSA:3067] [KO:K01590] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A05.00 ICD-10: F95.2 MeSH: D005879 OMIM: 137580 |
| 文献 | PMID:21277193 著者 State MW タイトル The genetics of Tourette disorder. 雑誌 Curr Opin Genet Dev 21:302-9 (2011) DOI:10.1016/j.gde.2011.01.007 PMID:21386676 著者 Bloch M, State M, Pittenger C タイトル Recent advances in Tourette syndrome. 雑誌 Curr Opin Neurol 24:119-25 (2011) DOI:10.1097/WCO.0b013e328344648c PMID:16224024 (SLITRK1) 著者 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 タイトル Sequence variants in SLITRK1 are associated with Tourette's syndrome. 雑誌 Science 310:317-20 (2005) DOI:10.1126/science.1116502 PMID:20445167 (HDC) 著者 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 タイトル L-histidine decarboxylase and Tourette's syndrome. 雑誌 N Engl J Med 362:1901-8 (2010) DOI:10.1056/NEJMoa0907006 |