DRS
MCID: DNR001
MIFTS: 45

Duane Retraction Syndrome (DRS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Duane Retraction Syndrome

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NIH Rare Diseases:42 Duane syndrome is a disorder of eye movement. this condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). as the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. usually only one eye is affected. some people with duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. most cases occur without other signs and symptoms. there are three forms of duane syndrome, designated types 1, 2, and 3. the types vary in which eye movements are most severely restricted (inward, outward, or both). all three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.  last updated: 3/26/2012

MalaCards based summary: Duane Retraction Syndrome, also known as stilling-turk-duane syndrome, is related to isolated duane retraction syndrome and duane syndrome type 2. An important gene associated with Duane Retraction Syndrome is CHN1 (chimerin 1). Affiliated tissues include eye, heart and colon, and related mouse phenotypes are craniofacial and skeleton.

Wikipedia:65 Duane\'s syndrome is a congenital rare type of strabismus most commonly characterized by the inability... more...

Descriptions from OMIM:46 604356,126800

GeneReviews summary for duane

Aliases & Classifications for Duane Retraction Syndrome

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Duane Retraction Syndrome, Aliases & Descriptions:

Name: Duane Retraction Syndrome 8 19 42 10 62
Stilling-Turk-Duane Syndrome 8 19 62
Duane Anomaly 42 20 22
Duane Syndrome 19 42
 
Duane Anomaly, Isolated 19
Duane's Syndrome 8
Drs 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


External Ids:

Disease Ontology8 DOID:12557
NCIt39 C84678
SNOMED-CT57 60318001
ICD9CM27 378.71

Related Diseases for Duane Retraction Syndrome

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Graphical network of the top 20 diseases related to Duane Retraction Syndrome:



Diseases related to duane retraction syndrome

Symptoms for Duane Retraction Syndrome

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Clinical features from OMIM:

604356,126800

Drugs & Therapeutics for Duane Retraction Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Duane Retraction Syndrome

Genetic Tests for Duane Retraction Syndrome

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Genetic tests related to Duane Retraction Syndrome:

id Genetic test Affiliating Genes
1 Duane Syndrome20 CHN1
2 Duane's Syndrome22

Anatomical Context for Duane Retraction Syndrome

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MalaCards organs/tissues related to Duane Retraction Syndrome:

32
Eye, Heart, Colon

Animal Models for Duane Retraction Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2SALL4, HOXD3, FOXQ1, FOXF2
2MP:00053908.0FOXF2, HOXD3, SALL4, FOXQ1
3MP:00036318.0FOXF2, FOXQ1, SALL4, CHN1, HOXD3

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Abducens nerve in a patient with Duane retraction syndrome. (24767241)
2014
2
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. (25230971)
2014
3
Duane retraction syndrome: A rare cause of strabismus. (25403117)
2014
4
Does infantile abduction deficit indicate duane retraction syndrome until disproven? (24453144)
2014
5
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24618490)
2014
6
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. (24865192)
2014
7
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. (23672883)
2013
8
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. (23477770)
2013
9
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. (22878473)
2013
10
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
11
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. (23687435)
2013
12
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. (24416505)
2013
13
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
14
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
15
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. (24206642)
2013
16
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
2012
17
Duane retraction syndrome: series of 441 cases. (22074356)
2012
18
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. (22912401)
2012
19
Duane retraction syndrome mimicking orbital fracture. (21530027)
2011
20
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. (21405998)
2011
21
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
22
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
23
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. (22606474)
2011
24
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. (21850174)
2011
25
Case report: Duane Retraction Syndrome associated with hand anomaly. (20923409)
2010
26
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. (20801148)
2010
27
Clinical findings and surgical results of Duane retraction syndrome. (19791717)
2010
28
MR imaging of Duane retraction syndrome. (19002447)
2009
29
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
30
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
2008
31
Auditory brainstem response and otoacoustic emissions in Duane retraction syndrome. (18479758)
2008
32
Binocular coordination of saccades in Duane Retraction Syndrome. (18606179)
2008
33
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
34
Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. (17126050)
2007
35
Duane retraction syndrome on the Arabian Peninsula. (18058357)
2007
36
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
37
Association of Duane retraction syndrome and Brown syndrome. (16121554)
2005
38
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. (12868480)
2003
39
Right-sided Duane retraction syndrome associated with multiple malformations. (14521536)
2003
40
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. (12506285)
2002
41
Congenital anomalies in patients with Duane retraction syndrome and their relatives. (10773809)
2000
42
Duane retraction syndrome, a new feature in 22q11 deletion syndrome? (10826628)
2000
43
Localization of a gene for Duane retraction syndrome to chromosome 2q31. (10577917)
1999
44
Surgical management of Duane retraction syndrome. (7752038)
1995
45
Duane retraction syndrome associated with Rubinstein-Taybi syndrome. (8749054)
1995
46
Duane retraction syndrome associated with Chiari I malformation. (8068166)
1994
47
Surgery on the normal eye in Duane retraction syndrome. (7931950)
1994
48
Association of Duane retraction syndrome with craniofacial malformations. (3877101)
1985
49
Goldenhar's syndrome with unilateral Duane retraction syndrome and "butterfly" vertebra. (3841867)
1985
50
Segmental dilatation of the colon and the Stilling-Turk-Duane retraction syndrome. (4036100)
1985

Variations for Duane Retraction Syndrome

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Expression for genes affiliated with Duane Retraction Syndrome

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Expression patterns in normal tissues for genes affiliated with Duane Retraction Syndrome

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Pathways for genes affiliated with Duane Retraction Syndrome

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Compounds for genes affiliated with Duane Retraction Syndrome

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GO Terms for genes affiliated with Duane Retraction Syndrome

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Biological processes related to Duane Retraction Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001228.9FOXQ1, SALL4, DUSP22

Molecular functions related to Duane Retraction Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435658.7FOXF2, FOXQ1, HOXD3

Products for genes affiliated with Duane Retraction Syndrome

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Sources for Duane Retraction Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet