MCID: DNR001
MIFTS: 40

Duane Retraction Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Duane Retraction Syndrome

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 10 21 45 22 12 51 36 65
Stilling-Turk-Duane Syndrome 10 21 45 22 51
Duane Syndrome 21 45 22 51
Duane Anomaly, Isolated 21 22
 
Drs 45 51
Duane's Syndrome 10
Duane Anomaly 45
Durs 51

Characteristics:

Orphanet epidemiological data:

51
duane retraction syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:12557
ICD1027 H50.81
ICD9CM29 378.71
MeSH36 D004370
NCIt42 C84678
SNOMED-CT59 60318001
Orphanet51 233
UMLS via Orphanet66 C0013261
ICD10 via Orphanet28 H50.8
MESH via Orphanet37 D004370
UMLS65 C0013261

Summaries for Duane Retraction Syndrome

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NIH Rare Diseases:45 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 duane retraction syndrome 2 and duane retraction syndrome 1, and has symptoms including strabismus, ophthalmoparesis and anteverted nares. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, kidney and prostate, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

GeneReviews summary for NBK1190

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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Symptoms:

 51 (show all 33)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • autosomal dominant inheritance
  • deepset eyes/enophthalmos
  • blepharophimosis/short palpebral fissures
  • anteverted nares/nostrils
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • aniridia/iris hypoplasia
  • heterochromia/mixed colouring of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • nystagmus
  • ptosis
  • broad nasal root
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external ear anomalies
  • hearing loss/hypoacusia/deafness
  • short neck
  • abnormal vertebral size/shape
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • short hand/brachydactyly
  • thumb hypoplasia/aplasia/absence
  • talipes-varus/metatarsal varus
  • congenital cardiac anomaly/malformation/cardiopathy
  • ectopic/horseshoe/fused kidneys
  • dystonia/torticollis/writer's cramp/blepharospasms
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Duane Retraction Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 ophthalmoparesis hallmark (90%) HP:0000597
3 anteverted nares typical (50%) HP:0000463
4 deeply set eye typical (50%) HP:0000490
5 blepharophimosis typical (50%) HP:0000581
6 cleft palate occasional (7.5%) HP:0000175
7 microcephaly occasional (7.5%) HP:0000252
8 micrognathia occasional (7.5%) HP:0000347
9 hearing impairment occasional (7.5%) HP:0000365
10 wide nasal bridge occasional (7.5%) HP:0000431
11 short neck occasional (7.5%) HP:0000470
12 visual impairment occasional (7.5%) HP:0000505
13 ptosis occasional (7.5%) HP:0000508
14 chorioretinal coloboma occasional (7.5%) HP:0000567
15 abnormality of the pupil occasional (7.5%) HP:0000615
16 nystagmus occasional (7.5%) HP:0000639
17 optic atrophy occasional (7.5%) HP:0000648
18 heterochromia iridis occasional (7.5%) HP:0001100
19 brachydactyly syndrome occasional (7.5%) HP:0001156
20 seizures occasional (7.5%) HP:0001250
21 talipes occasional (7.5%) HP:0001883
22 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
23 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
24 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
25 external ear malformation occasional (7.5%) HP:0008572
26 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
27 abnormal localization of kidney occasional (7.5%) HP:0100542
28 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Duane Retraction Syndrome:


congenital visual acuity reduced, ophthalmoparesis, ophthalmoplegia

Drugs & Therapeutics for Duane Retraction Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Duane Retraction Syndrome


Cochrane evidence based reviews: duane retraction syndrome

Genetic Tests for Duane Retraction Syndrome

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Anatomical Context for Duane Retraction Syndrome

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MalaCards organs/tissues related to Duane Retraction Syndrome:

33
Eye, Kidney, Prostate, Heart, Liver, Monocytes, Endothelial

Animal Models for Duane Retraction Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6CA8, HOXA1, SALL4
2MP:00053867.6CA8, CHN1, CHRNB3, HOXA1, SALL4

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. (26849454)
2016
2
Surgical management of strabismus in Duane retraction syndrome. (25727590)
2015
3
Respond to: Management of exotropic Duane retraction syndrome. (25971189)
2015
4
Abducens nerve in a patient with Duane retraction syndrome. (24767241)
2014
5
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. (25230971)
2014
6
Duane retraction syndrome: A rare cause of strabismus. (25403117)
2014
7
Does infantile abduction deficit indicate duane retraction syndrome until disproven? (24453144)
2014
8
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24618490)
2014
9
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. (24865192)
2014
10
Duane retraction syndrome in a Nigerian child. (25722769)
2014
11
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. (23672883)
2013
12
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. (23477770)
2013
13
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. (22878473)
2013
14
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
15
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. (23687435)
2013
16
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. (24416505)
2013
17
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
18
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
19
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
2012
20
Duane retraction syndrome: series of 441 cases. (22074356)
2012
21
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. (22912401)
2012
22
Duane retraction syndrome mimicking orbital fracture. (21530027)
2011
23
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. (21405998)
2011
24
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
25
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
26
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. (22606474)
2011
27
Case report: Duane Retraction Syndrome associated with hand anomaly. (20923409)
2010
28
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. (20801148)
2010
29
MR imaging of Duane retraction syndrome. (19002447)
2009
30
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
31
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
2008
32
Auditory brainstem response and otoacoustic emissions in Duane retraction syndrome. (18479758)
2008
33
Binocular coordination of saccades in Duane Retraction Syndrome. (18606179)
2008
34
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
35
Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. (17126050)
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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Search GEO for disease gene expression data for Duane Retraction Syndrome.

Pathways 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transductionGO:00071659.2CHN1, CHRNB3, SALL4

Sources for Duane Retraction Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet