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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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Duane Retraction Syndrome, also known as duane anomaly, 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...

Description from OMIM:47 126800,604356

GeneReviews summary for duane

Aliases & Classifications for Duane Retraction Syndrome

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 10DISEASES, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 58SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM
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Classifications:

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


Aliases & Descriptions:

duane retraction syndrome 8 19 43 10 62
duane anomaly 43 20 22
stilling-turk-duane syndrome 8 19
duane syndrome 19 43
duane anomaly, isolated 19
duane's syndrome 8
drs 43


External Ids:

Disease Ontology8 DOID:12557
SNOMED-CT58 60318001
NCIt40 C84678
ICD9CM27 378.71

Related Diseases for Duane Retraction Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

126800,604356

Drugs & Therapeutics for Duane Retraction Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Duane Retraction Syndrome

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Duane Retraction Syndrome:

33
Eye, Heart, Colon

Animal Models for Duane Retraction Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

37
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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52PubMed
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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. (23672883)
2013
2
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. (23477770)
2013
3
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. (22878473)
2013
4
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
5
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. (23687435)
2013
6
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. (24416505)
2013
7
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
8
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
9
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. (24206642)
2013
10
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. (23952617)
2013
11
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
2012
12
Duane retraction syndrome: series of 441 cases. (22074356)
2012
13
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. (22912401)
2012
14
Duane retraction syndrome mimicking orbital fracture. (21530027)
2011
15
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. (21405998)
2011
16
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
17
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
18
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. (22606474)
2011
19
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. (21850174)
2011
20
Case report: Duane Retraction Syndrome associated with hand anomaly. (20923409)
2010
21
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. (20801148)
2010
22
Clinical findings and surgical results of Duane retraction syndrome. (19791717)
2010
23
Bilateral Duane retraction syndrome with optic nerve hypoplasia. (21214146)
2010
24
MR imaging of Duane retraction syndrome. (19002447)
2009
25
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
26
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. (19541263)
2009
27
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
2008
28
Auditory brainstem response and otoacoustic emissions in Duane retraction syndrome. (18479758)
2008
29
Binocular coordination of saccades in Duane Retraction Syndrome. (18606179)
2008
30
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
31
Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. (17126050)
2007
32
Duane retraction syndrome on the Arabian Peninsula. (18058357)
2007
33
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
34
Association of Duane retraction syndrome and Brown syndrome. (16121554)
2005
35
Management of Duane retraction syndrome. (15724893)
2005
36
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. (12868480)
2003
37
Right-sided Duane retraction syndrome associated with multiple malformations. (14521536)
2003
38
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. (12506285)
2002
39
Congenital anomalies in patients with Duane retraction syndrome and their relatives. (10773809)
2000
40
Duane retraction syndrome, a new feature in 22q11 deletion syndrome? (10826628)
2000
41
Localization of a gene for Duane retraction syndrome to chromosome 2q31. (10577917)
1999
42
Surgical management of Duane retraction syndrome. (7752038)
1995
43
Duane retraction syndrome associated with Rubinstein-Taybi syndrome. (8749054)
1995
44
Duane retraction syndrome associated with Chiari I malformation. (8068166)
1994
45
Surgery on the normal eye in Duane retraction syndrome. (7931950)
1994
46
Duane retraction syndrome associated with Chiari I malformation. (8216550)
1993
47
Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome--a case report. (1452286)
1992
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet