MCID: DNR001
MIFTS: 41

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:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 11 22 46 23 13 52 37 66
Stilling-Turk-Duane Syndrome 11 22 46 23 52
Duane Syndrome 22 46 23 52
Duane Anomaly, Isolated 22 23
 
Drs 46 52
Duane's Syndrome 11
Duane Anomaly 46
Durs 52

Characteristics:

Orphanet epidemiological data:

52
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 Ontology11 DOID:12557
ICD1028 H50.81, R68.2
ICD9CM30 378.71
MeSH37 D004370
NCIt43 C84678
SNOMED-CT60 60318001
Orphanet52 ORPHA233
UMLS via Orphanet67 C0013261
ICD10 via Orphanet29 H50.8
MESH via Orphanet38 D004370

Summaries for Duane Retraction Syndrome

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NIH Rare Diseases:46 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), and among its related pathways is Natural Killer Cell Receptors: Human Target Cell -- NK Cell Ligand-Receptor Interactions. Affiliated tissues include eye, kidney and skin, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

CDC:2 CDC office (physical presence)2 U.S. Assignees9 Locally Employed

GeneReviews summary for NBK1190

Related Diseases for Duane Retraction Syndrome

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Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 2 Duane Retraction Syndrome 1

Diseases related to Duane Retraction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1duane retraction syndrome 212.4
2duane retraction syndrome 112.4
3isolated duane retraction syndrome12.4
4duane anomaly mental retardation12.0
5duane anomaly-myopathy-scoliosis syndrome12.0
6duane syndrome type 111.3
7duane syndrome type 211.3
8duane syndrome type 311.1
9duane-radial ray syndrome10.2
10strabismus10.1
11accommodative esotropia10.1CHN1, KIF21A
12retinitis10.1
13periostitis10.1
14abducens nerve disease10.0CHN1, KIF21A
15disuse amblyopia10.0CHN1, TUBB3
16achondroplasia9.9
17optic nerve hypoplasia9.9
18marfan syndrome9.9
19rubinstein-taybi syndrome9.9
20duchenne muscular dystrophy9.9
21usher syndrome9.9
22oculocutaneous albinism9.9
23heart disease9.9
24exotropia9.9
25vacterl association9.9
26congenital heart disease9.9
27bardet-biedl syndrome9.9
28craniopharyngioma9.9
29esotropia9.9
30muscular dystrophy9.9
31albinism9.9
32chiari malformation9.9
33pachygyria9.9
34brown syndrome9.9
35ependymoma9.9
36growth hormone deficiency9.9
37total circumpapillary dystrophy of choroid9.8CHN1, ROBO3
38porencephaly9.8COL25A1, KIF21A
39lymphoepithelioma-like carcinoma9.7CHN1, KIF21A
40monofixation syndrome9.6CHN1, KIF21A, TUBB3
41vaginal adenoma9.6CHN1, KIF21A, TUBB3
42endometriosis of rectovaginal septum and vagina9.4CHN1, KIF21A, ROBO3
43meckel syndrome 38.9CHN1, COL25A1, KIF21A, ROBO3
44mucopolysaccharidosis8.6CHN1, KIF21A, ROBO3, SALL4, TUBB3
45b-cell childhood acute lymphoblastic leukemia8.6CHN1, HOXA1, KIF21A, ROBO3, TUBB3
46idiopathic juvenile osteoporosis5.7CA8, CHN1, CHRNB3, COL25A1, CPA6, HOXA1

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:

 52 (show all 55)
  • ectopic kidney
  • cleft palate
  • everted lower lip vermilion
  • microcephaly
  • facial asymmetry
  • micrognathia
  • hearing impairment
  • preauricular skin tag
  • stenosis of the external auditory canal
  • sensorineural hearing impairment
  • wide nasal bridge
  • anteverted nares
  • webbed neck
  • short neck
  • microcornea
  • strabismus
  • deeply set eye
  • abnormality of eye movement
  • ptosis
  • aniridia
  • chorioretinal coloboma
  • blepharophimosis
  • iris coloboma
  • abnormality of the pupil
  • nystagmus
  • blepharospasm
  • amblyopia
  • hypopigmented skin patches
  • brachydactyly syndrome
  • preaxial hand polydactyly
  • triphalangeal thumb
  • seizures
  • global developmental delay
  • plagiocephaly
  • talipes equinovarus
  • low posterior hairline
  • malformation of the heart and great vessels
  • hypoplasia of the radius
  • skeletal muscle atrophy
  • spina bifida occulta
  • abnormal form of the vertebral bodies
  • absent radius
  • abnormal vertebral segmentation and fusion
  • irregular hyperpigmentation
  • optic disc hypoplasia
  • central heterochromia
  • hypoplastic iris stroma
  • external ear malformation
  • aplasia/hypoplasia of the thumb
  • patchy hypopigmentation of hair
  • narrow internal auditory canal
  • oculomotor nerve palsy
  • camptodactyly
  • anorectal anomaly
  • short palpebral fissure

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:


ophthalmoplegia, ophthalmoparesis, congenital visual acuity reduced

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:

34
Eye, Kidney, Skin, Heart, Skeletal muscle, Colon

Animal Models for Duane Retraction Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8CA8, HOXA1, MAFB, ROBO3, SALL4
2MP:00053888.6COL25A1, HOXA1, MAFB, ROBO3, TUBB3
3MP:00053867.6CA8, CHN1, CHRNB3, COL25A1, HOXA1, MAFB
4MP:00036317.4CA8, CHN1, COL25A1, HOXA1, MAFB, ROBO3

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. (27317499)
2016
2
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. (27574176)
2016
3
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. (26849454)
2016
4
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. (26833229)
2016
5
The genetics of nonsyndromic bilateral Duane retraction syndrome. (27658539)
2016
6
Respond to: Management of exotropic Duane retraction syndrome. (25971189)
2015
7
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. (25955520)
2015
8
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. (25230971)
2014
9
Duane retraction syndrome: A rare cause of strabismus. (25403117)
2014
10
Does infantile abduction deficit indicate duane retraction syndrome until disproven? (24453144)
2014
11
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. (24865192)
2014
12
Duane retraction syndrome in a Nigerian child. (25722769)
2014
13
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. (23672883)
2013
14
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. (22878473)
2013
15
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
16
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
17
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
18
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. (24001015)
2013
19
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. (24310235)
2013
20
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
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
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
24
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
25
Case report: Duane Retraction Syndrome associated with hand anomaly. (20923409)
2010
26
Clinical findings and surgical results of Duane retraction syndrome. (19791717)
2010
27
Bilateral Duane retraction syndrome with optic nerve hypoplasia. (21214146)
2010
28
Distinctive clinical features of bilateral Duane retraction syndrome. (20736120)
2010
29
Duane retraction syndrome type I, Marcus Gunn jaw-winking and crocodile tears in the same eye. (21175115)
2010
30
MR imaging of Duane retraction syndrome. (19002447)
2009
31
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
32
Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. (18723379)
2008
33
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
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
Right-sided Duane retraction syndrome associated with multiple malformations. (14521536)
2003
38
Bilateral Duane retraction syndrome associated with an extraordinary hand anomaly. (14710473)
2003
39
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. (12506285)
2002
40
Duane retraction syndrome. (11705140)
2001
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
Fourth ventricular ependymoma in a child with Duane retraction syndrome. (9419032)
1997
45
Duane retraction syndrome associated with Chiari I malformation. (8068166)
1994
46
Surgery on the normal eye in Duane retraction syndrome. (7931950)
1994
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
Unilateral Duane retraction syndrome. Report of a case. (3721835)
1986
49
Association of Duane retraction syndrome with craniofacial malformations. (3877101)
1985
50
Goldenhar's syndrome with unilateral Duane retraction syndrome and "butterfly" vertebra. (3841867)
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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Pathways related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2COL25A1, KIR2DL1, KIR2DL4

GO Terms for genes affiliated with Duane Retraction Syndrome

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Sources for Duane Retraction Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet