KEGG DISEASE: Duane retraction syndrome

KEGG

DISEASE: Duane retraction syndrome

Entry

H00633                      Disease

Name

Duane retraction syndrome

Description

Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS patients, absence of the abducens motor neurons and aberrant innervation of extraocular muscles by third cranial nerve have been reported.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C82  Disorders of extraocular muscles
    H00633  Duane retraction syndrome

Gene

(DURS2) CHN1 [HSA:1123] [KO:K20630]
(DURS3) MAFB [HSA:9935] [KO:K09036]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Yuksel D, Orban de Xivry JJ, Lefevre P

Title

Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.

Journal

Vision Res 50:2334-47 (2010)
DOI:10.1016/j.visres.2010.08.019

Reference

PMID:18653847 (CHN1)

Authors

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC

Title

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Journal

Science 321:839-43 (2008)
DOI:10.1126/science.1156121

Reference

PMID:27181683 (MAFB)

Authors

Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC

Title

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Journal

Am J Hum Genet 98:1220-1227 (2016)
DOI:10.1016/j.ajhg.2016.03.023

LinkDB

» Japanese version

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