KEGG   DISEASE: Chorea, childhood-onset, with psychomotor retardation
Entry
H02367                      Disease                                
Name
Chorea, childhood-onset, with psychomotor retardation
Description
Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated with COCPMR.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A01  Choreiform disorders
    H02367  Chorea, childhood-onset, with psychomotor retardation
Gene
GPR88 [HSA:54112] [KO:K08422]
Other DBs
ICD-11: 8A01.Y
MeSH: D002819
OMIM: 616939
Reference
  Authors
Alkufri F, Shaag A, Abu-Libdeh B, Elpeleg O
  Title
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.
  Journal
Neurol Genet 2:e64 (2016)
DOI:10.1212/NXG.0000000000000064
Reference
  Authors
Quintana A, Sanz E, Wang W, Storey GP, Guler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD
  Title
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors.
  Journal
Nat Neurosci 15:1547-55 (2012)
DOI:10.1038/nn.3239
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