Details of Disease | DrugMAP

General Information of Disease (ID: DISOEBK2)

Disease Name	Duane retraction syndrome
Synonyms	Duane anomaly; retraction syndrome; Duane syndrome; Duane's syndrome; Duane retraction syndrome; Stilling-Turk-Duane syndrome; DURS; DRS
Definition	Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISD715V: Hereditary neurological disease DISYLFS0: Nuclear oculomotor paralysis DISOEBK2: Duane retraction syndrome
Disease Identifiers	MONDO ID MONDO_0007473 MESH ID D004370 UMLS CUI C0013261 MedGen ID 4413 HPO ID HP:0009921 SNOMED CT ID 60318001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH2	TT1WS0T	moderate	Biomarker	[1]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHN1	OTM196M3	Supportive	Autosomal dominant	[2]
MAFB	OTH2N3T8	Supportive	Autosomal dominant	[3]
SALL4	OTC08PR5	Supportive	Autosomal dominant	[4]
COL25A1	OT7M23Z9	moderate	Genetic Variation	[5]
HOXA1	OTMSOJ7D	moderate	Biomarker	[6]
BHLHE22	OTZUQY5L	Strong	Biomarker	[7]
CPA6	OT43RD23	Strong	Biomarker	[8]
DVL1	OTD67RF1	Strong	Genetic Variation	[9]
ECEL1	OTJ6GNUP	Strong	Genetic Variation	[10]
FOXL2	OTFRQUYL	Strong	Genetic Variation	[11]
HOXD3	OTBUZ35T	Strong	Genetic Variation	[12]
KIF21A	OT511XD9	Strong	Biomarker	[13]
OMA1	OT0JRVY7	Strong	Genetic Variation	[14]
PTPRN2	OTL6SH28	Strong	Altered Expression	[15]
SALL1	OTYYZGLH	Strong	Genetic Variation	[16]
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⏷ Show the Full List of 15 DOT(s)

References

1	N-cadherin mediates cortical organization in the mouse brain.Dev Biol. 2007 Apr 1;304(1):22-33. doi: 10.1016/j.ydbio.2006.12.014. Epub 2006 Dec 9.
2	Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24.
3	Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.
4	Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Mol Vis. 2013 May 6;19:986-94. Print 2013.
5	Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.J AAPOS. 2016 Dec;20(6):542-544.e2. doi: 10.1016/j.jaapos.2016.05.019. Epub 2016 Sep 20.
6	The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.Semin Ophthalmol. 2013 Sep-Nov;28(5-6):427-37. doi: 10.3109/08820538.2013.825288.
7	Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor.Genomics. 2002 Sep;80(3):311-8. doi: 10.1006/geno.2002.6833.
8	Substrate specificity of human carboxypeptidase A6.J Biol Chem. 2010 Dec 3;285(49):38234-42. doi: 10.1074/jbc.M110.158626. Epub 2010 Sep 20.
9	DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.
10	The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005.
11	Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.Clin Genet. 2005 Dec;68(6):520-3. doi: 10.1111/j.1399-0004.2005.00527.x.
12	Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome.J AAPOS. 2007 Feb;11(1):62-4. doi: 10.1016/j.jaapos.2006.09.006. Epub 2006 Nov 22.
13	Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4600-11. doi: 10.1167/iovs.10-5438. Epub 2010 Apr 14.
14	A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3609-12.
15	Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850. Epub 2012 Sep 6.
16	The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).Ophthalmic Genet. 2008 Dec;29(4):177-80. doi: 10.1080/13816810802354224.