Details of Disease | DrugMAP

General Information of Disease (ID: DIS49SAN)

Disease Name	Duane retraction syndrome 3 with or without deafness
Synonyms	Duane syndrome type 3; Duane retraction syndrome 3; DURS3; Duane retraction syndrome 3 with or without deafness; MAFB Duane retraction syndrome; Duane retraction syndrome caused by mutation in MAFB
Definition	Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
Disease Hierarchy	DISOEBK2: Duane retraction syndrome DIS49SAN: Duane retraction syndrome 3 with or without deafness
Disease Identifiers	MONDO ID MONDO_0014880 UMLS CUI C4310752 OMIM ID 617041 MedGen ID 934719

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAFB	OTH2N3T8	Strong	Autosomal dominant	[1]
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References

1	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.