MCID: DNR001
MIFTS: 43

Duane Retraction Syndrome

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

Aliases & Classifications for Duane Retraction Syndrome

MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 12 23 50 24 56 42 14 69
Stilling-Turk-Duane Syndrome 12 23 50 24 56
Duane Syndrome 23 50 24 56
Duane Anomaly, Isolated 23 24
Duane Anomaly 50 29
Drs 50 56
Duane's Syndrome 12
Durs 56

Characteristics:

Orphanet epidemiological data:

56
duane retraction syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance Duane syndrome families in whom a chn1 pathogenic variant has been identified may have reduced penetrance [engle et al 2007, miyake et al 2008, chan et al 2011]...

Classifications:



Summaries for Duane Retraction Syndrome

NIH Rare Diseases : 50 duane syndromeis 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 esotropia and duane retraction syndrome 2, and has symptoms including nystagmus, blepharospasm and strabismus. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotype is Increased shRNA abundance (Z-score > 2).

CDC : 3 The Centers for Disease Control and Prevention in the Dominican Republic (CDC/DR) has three disease impact goals: 1) prevent new cases of HIV in key populations of men who have sex with men (MSM), female sex workers, and priority populations (migrants), 2) reduce the prevalence of tuberculosis (TB), and 3) reduce the impact of infectious disease outbreaks.

GeneReviews: NBK1190

Related Diseases for Duane Retraction Syndrome

Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 2 Duane Retraction Syndrome 1
Duane Retraction Syndrome 3

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 esotropia 29.0 CHN1 KIF21A TUBB3
2 duane retraction syndrome 2 12.4
3 duane retraction syndrome 3 12.4
4 isolated duane retraction syndrome 12.3
5 duane retraction syndrome 1 12.3
6 duane anomaly mental retardation 11.9
7 duane anomaly-myopathy-scoliosis syndrome 11.9
8 kniest dysplasia 11.2
9 duane syndrome type 1 11.0
10 duane syndrome type 2 11.0
11 duane syndrome type 3 11.0
12 duane-radial ray syndrome 11.0
13 chromosome 2q31.1 duplication syndrome 10.6 CHN1 MAFB
14 duodenal atresia tetralogy of fallot 10.6 CHN1 MAFB
15 episodic pain syndrome, familial, 1 10.5 CHN1 MAFB
16 strabismus 10.0
17 pseudohypoparathyroidism ia 9.9 CHN1 KIF21A SALL4
18 periostitis 9.9
19 exotropia 9.9
20 retinitis 9.9
21 marfan syndrome 9.8
22 muscular dystrophy 9.8
23 albinism 9.8
24 duchenne muscular dystrophy 9.8
25 brown syndrome 9.8
26 usher syndrome 9.8
27 chiari malformation 9.8
28 oculocutaneous albinism 9.8
29 usher syndrome type 2 9.8
30 cysticercosis 9.8
31 heart disease 9.8
32 ependymoma 9.8
33 vacterl association 9.8
34 growth hormone deficiency 9.8
35 bardet-biedl syndrome 9.8
36 pachygyria 9.8
37 achondroplasia 9.8
38 craniopharyngioma 9.8
39 optic nerve hypoplasia 9.8
40 polydactyly, postaxial, with progressive myopia 9.8 CHN1 TUBB3
41 disuse amblyopia 9.7 CHN1 MAFB TUBB3
42 coloboma of macula and skeletal anomalies 9.7 CHN1 TUBB3
43 endometriosis of ovary 9.5 CHN1 KIF21A TUBB3
44 peripheral vertigo 9.5 CHN1 KIF21A TUBB3
45 monofixation syndrome 9.5 CHN1 TUBB3
46 abducens nerve disease 9.5 CHN1 KIF21A TUBB3
47 pleomorphic carcinoma 9.5 CHN1 KIF21A TUBB3
48 pancreatic acinar cell adenocarcinoma 9.4 CHN1 KIF21A TUBB3
49 enterocele 9.3 CHN1 KIF21A SALL4 TUBB3
50 paget's disease of bone 9.3 CHN1 KIF21A TUBB3

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



Diseases related to Duane Retraction Syndrome

Symptoms & Phenotypes for Duane Retraction Syndrome

Human phenotypes related to Duane Retraction Syndrome:

56 32 (show top 50) (show all 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 blepharospasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0000643
3 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
10 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
11 microcornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000482
12 camptodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0012385
13 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
14 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
15 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
16 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
17 webbed neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000465
18 spina bifida occulta 56 32 occasional (7.5%) Occasional (29-5%) HP:0003298
19 amblyopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000646
20 plagiocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001357
21 low posterior hairline 56 32 frequent (33%) Frequent (79-30%) HP:0002162
22 blepharophimosis 56 32 frequent (33%) Frequent (79-30%) HP:0000581
23 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
24 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
25 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
26 preauricular skin tag 56 32 occasional (7.5%) Occasional (29-5%) HP:0000384
27 triphalangeal thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001199
28 aniridia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000526
29 hypoplastic iris stroma 56 32 occasional (7.5%) Occasional (29-5%) HP:0007990
30 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
31 chorioretinal coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000567
32 absent radius 56 32 occasional (7.5%) Occasional (29-5%) HP:0003974
33 oculomotor nerve palsy 56 32 hallmark (90%) Very frequent (99-80%) HP:0012246
34 short palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0012745
35 everted lower lip vermilion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000232
36 optic disc hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007766
37 external ear malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0008572
38 irregular hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007400
39 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
40 abnormal form of the vertebral bodies 56 32 occasional (7.5%) Occasional (29-5%) HP:0003312
41 deeply set eye 56 32 frequent (33%) Frequent (79-30%) HP:0000490
42 anorectal anomaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0012732
43 abnormality of the pupil 56 32 occasional (7.5%) Occasional (29-5%) HP:0000615
44 preaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001177
45 stenosis of the external auditory canal 56 32 occasional (7.5%) Occasional (29-5%) HP:0000402
46 narrow internal auditory canal 56 32 occasional (7.5%) Occasional (29-5%) HP:0011386
47 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009601
48 hypoplasia of the radius 56 32 occasional (7.5%) Occasional (29-5%) HP:0002984
49 abnormal vertebral segmentation and fusion 56 32 frequent (33%) Frequent (79-30%) HP:0005640
50 central heterochromia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007818

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoplegia, ophthalmoparesis

GenomeRNAi Phenotypes related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.19 KIR3DL3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.19 KIR2DL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.19 CPA6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.19 KIR2DL4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.19 KIR3DL3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.19 CPA6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.19 CPA6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.19 KIR2DL1 KIR2DL4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.19 KIR3DL3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.19 KIR2DL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.19 KIR3DL3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.19 KIR3DL3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.19 KIR3DL3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.19 KIR2DL4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.19 KIR2DL1 KIR2DL4 CPA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.19 KIR3DL3 KIR2DL1 KIR2DL4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.19 KIR2DL1 CPA6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.19 KIR3DL3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.19 KIR3DL3 KIR2DL1 KIR2DL4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.19 KIR3DL3 KIR2DL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.19 KIR2DL4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.19 KIR3DL3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.19 CPA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.19 KIR3DL3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.19 KIR3DL3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.19 KIR3DL3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.19 KIR2DL1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.19 KIR2DL4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.19 KIR3DL3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.19 KIR2DL4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.19 KIR2DL1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.19 KIR2DL4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.19 KIR3DL3 KIR2DL4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.19 KIR3DL3 KIR2DL1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.19 KIR3DL3
36 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.19 KIR2DL1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.19 KIR2DL4
38 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.19 CPA6
39 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.19 KIR3DL3

Drugs & Therapeutics for Duane Retraction Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Duane Retraction Syndrome

Cochrane evidence based reviews: duane retraction syndrome

Genetic Tests for Duane Retraction Syndrome

Genetic tests related to Duane Retraction Syndrome:

id Genetic test Affiliating Genes
1 Duane Anomaly 29

Anatomical Context for Duane Retraction Syndrome

MalaCards organs/tissues related to Duane Retraction Syndrome:

39
Eye, Skin, Heart, Kidney, Skeletal Muscle, Colon

Publications for Duane Retraction Syndrome

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 91)
id Title Authors Year
1
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
2
Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report. ( 28526001 )
2017
3
Mutant I+2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. ( 28346224 )
2017
4
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
5
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. ( 26833229 )
2016
6
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
7
The genetics of nonsyndromic bilateral Duane retraction syndrome. ( 27658539 )
2016
8
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
2016
9
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
10
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
11
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
12
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
13
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
14
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
15
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
16
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
17
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
18
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
19
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
20
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
21
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
22
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
23
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
24
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
25
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
26
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
27
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
28
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
29
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. ( 24310235 )
2013
30
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
31
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
32
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
33
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
34
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
35
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. ( 24416505 )
2013
36
Duane retraction syndrome: series of 441 cases. ( 22074356 )
2012
37
Duane retraction syndrome with posterior microphthalmos: a rare association. ( 22881831 )
2012
38
Vertical deviation and A pattern of type III Duane retraction syndrome. ( 22932093 )
2012
39
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. ( 22912401 )
2012
40
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. ( 22258531 )
2012
41
Duane retraction syndrome mimicking orbital fracture. ( 21530027 )
2011
42
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. ( 21405998 )
2011
43
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. ( 21907111 )
2011
44
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. ( 21850174 )
2011
45
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. ( 21555619 )
2011
46
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. ( 22606474 )
2011
47
Bilateral Duane retraction syndrome with optic nerve hypoplasia. ( 21214146 )
2010
48
Ocular motor ability and covert attention in patients with Duane Retraction Syndrome. ( 20600187 )
2010
49
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. ( 20801148 )
2010
50
Case report: Duane Retraction Syndrome associated with hand anomaly. ( 20923409 )
2010

Variations for Duane Retraction Syndrome

Expression for Duane Retraction Syndrome

Search GEO for disease gene expression data for Duane Retraction Syndrome.

Pathways for Duane Retraction Syndrome

GO Terms for Duane Retraction Syndrome

Biological processes related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 abducens nerve formation GO:0021599 8.62 HOXA1 MAFB

Sources for Duane Retraction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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