KEGG   DISEASE: Familial dyskinesia with facial myokymia
Entry
H02389                      Disease                                
Name
Familial dyskinesia with facial myokymia
Description
Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the nervous system
   Symptoms or signs involving the nervous system
    MB47  Abnormality of tonus and reflex
     H02389  Familial dyskinesia with facial myokymia
Pathway
hsa04024  cAMP signaling pathway
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04935  Growth hormone synthesis, secretion and action
Gene
ADCY5 [HSA:111] [KO:K08045]
Other DBs
ICD-11: MB47.4
ICD-10: G24.9
MeSH: D020820
OMIM: 606703
Reference
  Authors
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A
  Title
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
  Journal
Ann Neurol 75:542-9 (2014)
DOI:10.1002/ana.24119
Reference
  Authors
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH
  Title
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
  Journal
Arch Neurol 69:630-5 (2012)
DOI:10.1001/archneurol.2012.54
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