Details of Disease | DrugMAP

General Information of Disease (ID: DISE6LRF)

Disease Name	Duane retraction syndrome 2
Synonyms	Duane syndrome type 2; DURS2; Duane retraction syndrome caused by mutation in CHN1; Duane retraction syndrome type 2; Duane retraction syndrome 2; CHN1 Duane retraction syndrome
Definition	Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.
Disease Hierarchy	DISOEBK2: Duane retraction syndrome DISE6LRF: Duane retraction syndrome 2
Disease Identifiers	MONDO ID MONDO_0011444 MESH ID D004370 UMLS CUI C0751083 OMIM ID 604356 MedGen ID 196721

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHN1	OTM196M3	Strong	Autosomal dominant	[1]
MAFB	OTH2N3T8	Strong	CausalMutation	[2]
SALL4	OTC08PR5	Strong	Biomarker	[3]
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References

1	Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011 May;129(5):649-52. doi: 10.1001/archophthalmol.2011.84.
2	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.
3	Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. Elife. 2018 Aug 1;7:e38430. doi: 10.7554/eLife.38430.