KEGG DISEASE: Duane-radial ray syndrome

KEGG

DISEASE: Duane-radial ray syndrome

Entry

H00634                      Disease

Name

Duane-radial ray syndrome;
Okihiro syndrome

Description

Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00634  Duane-radial ray syndrome

Gene

SALL4 [HSA:57167] [KO:K19871]

Comment

For Duane retraction syndrome, see H00633.

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

Authors

Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC

Title

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Journal

Am J Hum Genet 71:1195-9 (2002)
DOI:10.1086/343821

LinkDB

» Japanese version

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