KEGG DISEASE: Tourette syndrome

DISEASE: Tourette syndrome

Entry

H00862                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A05  Tic disorders
    H00862  Tourette syndrome
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06037  Histidine metabolism
   H00862  Tourette syndrome
Cellular process
  nt06544  Neuroactive ligand signaling
   H00862  Tourette syndrome
  nt06546  IgSF CAM signaling
   H00862  Tourette syndrome

Pathway

hsa00340

Histidine metabolism

hsa04517

IGSF CAM signaling

Network

nt06037 Histidine metabolism
nt06544 Neuroactive ligand signaling
nt06546 IgSF CAM signaling

Gene

SLITRK1 [HSA:114798] [KO:K25832]
HDC [HSA:3067] [KO:K01590]

Drug

Haloperidol [DR:D00136]
Haloperidol lactate [DR:D08035]
Pimozide [DR:D00560]

Other DBs

ICD-11:

8A05.00

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DISEASE: Trichotillomania

Entry

H00864                      Disease

Name

Trichotillomania

Description

Trichotillomania (TTM) is a chronic behavioral disorder characterized by the irresistible urge to pull out one's hair, resulting in noticeable hair loss. Mutations in SLITRK1 are found in patients with TTM.