KEGG DISEASE: Infantile-onset limb and orofacial dyskinesia

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 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

(IOLOD) PDE10A [HSA:10846] [KO:K18438]

Other DBs

ICD-11:

MB47.4

MeSH:

D020820

OMIM:

616921

Reference

PMID:27058446

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

LinkDB

» Japanese version

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