DRS
MCID: DNR001
MIFTS: 41

Duane Retraction Syndrome (DRS) malady

Summaries for Duane Retraction Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Duane Retraction Syndrome, also known as duane anomaly, is related to amblyopia and isolated duane retraction syndrome. An important gene associated with Duane Retraction Syndrome is CHN1 (chimerin 1). Affiliated tissues include eye, heart and colon, and related mouse phenotypes are respiratory system and craniofacial.

Wikipedia:63 Duane\'s syndrome is a congenital rare type of strabismus most commonly characterized by the inability... more...

Description from OMIM:46 126800,604356

GeneReviews summary for duane

Aliases & Classifications for Duane Retraction Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 20GeneTests, 22GTR, 27ICD9CM, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT, 25ICD10
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Classifications:



Aliases & Descriptions:

duane retraction syndrome 8 19 42 10 60
duane anomaly 42 20 22
stilling-turk-duane syndrome 8 19
duane syndrome 19 42
duane anomaly, isolated 19
duane's syndrome 8
drs 42


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Disease Ontology8 DOID:12557
ICD9CM27 378.71
SNOMED-CT56 60318001
NCIt39 C84678
ICD1025 R68.2

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

Clinical Features for Duane Retraction Syndrome

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46OMIM
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Clinical features from OMIM:

126800,604356

Drugs & Therapeutics for Duane Retraction Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3ROBO3, HOXA1, HOXD3, FOXQ1, FOXF2
2MP:00053828.3HOXA1, HOXD3, FOXQ1, FOXF2, SALL4
3MP:00036317.4SALL4, FOXF2, FOXQ1, CHN1, HOXD3, HOXA1

Publications for Duane Retraction Syndrome

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50PubMed
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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
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. (22878473)
2013
3
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
4
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. (23687435)
2013
5
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
6
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. (23952617)
2013
7
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. (24001015)
2013
8
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. (24310235)
2013
9
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
2012
10
Duane retraction syndrome: series of 441 cases. (22074356)
2012
11
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. (22912401)
2012
12
Duane retraction syndrome with posterior microphthalmos: a rare association. (22881831)
2012
13
Duane retraction syndrome mimicking orbital fracture. (21530027)
2011
14
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. (21405998)
2011
15
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
16
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
17
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. (22606474)
2011
18
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. (21850174)
2011
19
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. (20801148)
2010
20
Bilateral Duane retraction syndrome with optic nerve hypoplasia. (21214146)
2010
21
Distinctive clinical features of bilateral Duane retraction syndrome. (20736120)
2010
22
Ocular motor ability and covert attention in patients with Duane Retraction Syndrome. (20600187)
2010
23
Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. (20447154)
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
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
2008
27
Binocular coordination of saccades in Duane Retraction Syndrome. (18606179)
2008
28
Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. (18723379)
2008
29
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
30
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
31
Association of Duane retraction syndrome and Brown syndrome. (16121554)
2005
32
Management of Duane retraction syndrome. (15724893)
2005
33
Properties of saccades in Duane retraction syndrome. (16123413)
2005
34
Right-sided Duane retraction syndrome associated with multiple malformations. (14521536)
2003
35
Bilateral Duane retraction syndrome associated with an extraordinary hand anomaly. (14710473)
2003
36
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. (12506285)
2002
37
Duane retraction syndrome. (11705140)
2001
38
Congenital anomalies in patients with Duane retraction syndrome and their relatives. (10773809)
2000
39
Duane retraction syndrome, a new feature in 22q11 deletion syndrome? (10826628)
2000
40
Localization of a gene for Duane retraction syndrome to chromosome 2q31. (10577917)
1999
41
"Acquired" Duane retraction syndrome. (8934421)
1996
42
Surgical management of Duane retraction syndrome. (7752038)
1995
43
Duane retraction syndrome associated with Chiari I malformation. (8068166)
1994
44
Surgery on the normal eye in Duane retraction syndrome. (7931950)
1994
45
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
46
Unilateral Duane retraction syndrome. Report of a case. (3721835)
1986
47
Association of Duane retraction syndrome with craniofacial malformations. (3877101)
1985
48
Goldenhar's syndrome with unilateral Duane retraction syndrome and "butterfly" vertebra. (3841867)
1985
49
Segmental dilatation of the colon and the Stilling-Turk-Duane retraction syndrome. (4036100)
1985
50
Duane retraction syndrome: a strabismus problem. (13076796)
1953

Genetic Variations for Duane Retraction Syndrome

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Expression for genes affiliated with Duane Retraction Syndrome

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1BioGPS, 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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Biological processes related to Duane Retraction Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1motor neuron axon guidanceGO:0080459.9HOXA1, CHN1

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435658.7HOXA1, HOXD3, FOXQ1, FOXF2

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
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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