KEGG   DISEASE: Infantile-onset limb and orofacial dyskinesia
Entry
H02388                      Disease                                

Name
Infantile-onset limb and orofacial dyskinesia
Description
Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H02388  Infantile-onset limb and orofacial dyskinesia
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
     H02388  Infantile-onset limb and orofacial dyskinesia
Pathway
hsa00230 Purine metabolism   
hsa04024 cAMP signaling pathway   
Gene
PDE10A [HSA:10846] [KO:K18438]
Other DBs
ICD-11: MB47.4
ICD-10: G24.9
MeSH: D020820
OMIM: 616921
Reference
  Authors
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schulke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ
  Title
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
  Journal
Am J Hum Genet 98:735-43 (2016)
DOI:10.1016/j.ajhg.2016.03.015
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