DRS
MCID: DNR001
MIFTS: 41

Duane Retraction Syndrome (DRS) malady

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

Aliases & Classifications for Duane Retraction Syndrome

Aliases & Descriptions 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
Drs 50 56
Duane's Syndrome 12
Duane Anomaly 50
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:



External Ids:

Disease Ontology 12 DOID:12557
ICD10 33 H50.81 R68.2
ICD9CM 35 378.71
MeSH 42 D004370
NCIt 47 C84678
SNOMED-CT 64 60318001
Orphanet 56 ORPHA233
UMLS via Orphanet 70 C0013261
ICD10 via Orphanet 34 H50.8
MESH via Orphanet 43 D004370
UMLS 69 C0013261

Summaries for Duane Retraction Syndrome

NIH Rare Diseases : 50 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 seizures, short neck and ptosis. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotypes are behavior/neurological and nervous system

CDC : 3 CDC office (physical presence)2 U.S. Assignees9 Locally Employed

GeneReviews: NBK1190

Related Diseases for Duane Retraction Syndrome

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 top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 12.4
2 duane retraction syndrome 1 12.4
3 isolated duane retraction syndrome 12.4
4 duane anomaly-myopathy-scoliosis syndrome 11.9
5 duane anomaly mental retardation 11.9
6 kniest dysplasia 11.2
7 duane syndrome type 1 11.2
8 duane syndrome type 2 11.2
9 duane-radial ray syndrome 11.0
10 duane syndrome type 3 11.0
11 chromosome 2q31.1 duplication syndrome 10.3 CHN1 MAFB
12 tubulointerstitial nephritis with uveitis 10.1 CHN1 TUBB3
13 amyotrophic neuralgia 10.1 CHN1 TUBB3
14 strabismus 10.0
15 deep keratitis 10.0 CHN1 ROBO3
16 joubert syndrome 6 10.0 CHN1 COL25A1 KIF21A
17 pseudohypoparathyroidism ia 10.0 CHN1 KIF21A SALL4
18 lingual-facial-buccal dyskinesia 10.0 CHN1 KIF21A TUBB3
19 oliver syndrome 10.0 CHN1 TUBB3
20 alopecia areata 10.0 CHN1 KIF21A TUBB3
21 total third-nerve palsy 10.0 CHN1 KIF21A TUBB3
22 endometriosis of ovary 10.0 CHN1 KIF21A ROBO3
23 retinitis 9.9
24 periostitis 9.9
25 exotropia 9.9
26 pontocerebellar hypoplasia 9.9 CHN1 COL25A1 KIF21A TUBB3
27 bardet-biedl syndrome 9.8
28 pachygyria 9.8
29 achondroplasia 9.8
30 craniopharyngioma 9.8
31 optic nerve hypoplasia 9.8
32 esotropia 9.8
33 muscular dystrophy 9.8
34 marfan syndrome 9.8
35 rubinstein-taybi syndrome 9.8
36 albinism 9.8
37 brown syndrome 9.8
38 duchenne muscular dystrophy 9.8
39 chiari malformation 9.8
40 usher syndrome 9.8
41 oculocutaneous albinism 9.8
42 usher syndrome type 2 9.8
43 cysticercosis 9.8
44 heart disease 9.8
45 ependymoma 9.8
46 growth hormone deficiency 9.8
47 urinary bladder villous adenoma 9.8 CHN1 ECEL1 KIF21A TUBB3
48 chronic lacrimal gland enlargement 9.7 CHN1 KIF21A ROBO3 SALL4 TUBB3
49 mental retardation, autosomal dominant 7 9.5 CHN1 ECEL1 HOXA1 KIF21A ROBO3 TUBB3
50 febrile seizures, familial, 1 8.4 CHN1 CHRNB3 COL25A1 DUSP22 ECEL1 FGF17

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 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 short neck 56 32 Occasional (29-5%) HP:0000470
3 ptosis 56 32 Occasional (29-5%) HP:0000508
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 global developmental delay 56 32 Occasional (29-5%) HP:0001263
6 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
7 microcephaly 56 32 Occasional (29-5%) HP:0000252
8 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
9 anteverted nares 56 32 Frequent (79-30%) HP:0000463
10 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
11 cleft palate 56 32 Occasional (29-5%) HP:0000175
12 micrognathia 56 32 Occasional (29-5%) HP:0000347
13 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
14 strabismus 56 32 Very frequent (99-80%) HP:0000486
15 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
16 everted lower lip vermilion 56 32 Occasional (29-5%) HP:0000232
17 low posterior hairline 56 32 Frequent (79-30%) HP:0002162
18 webbed neck 56 32 Occasional (29-5%) HP:0000465
19 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
20 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
21 deeply set eye 56 32 Frequent (79-30%) HP:0000490
22 irregular hyperpigmentation 56 32 Occasional (29-5%) HP:0007400
23 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
24 talipes equinovarus 56 32 Occasional (29-5%) HP:0001762
25 anorectal anomaly 56 32 Occasional (29-5%) HP:0012732
26 abnormality of the pupil 56 32 Occasional (29-5%) HP:0000615
27 amblyopia 56 32 Occasional (29-5%) HP:0000646
28 blepharophimosis 56 32 Frequent (79-30%) HP:0000581
29 spina bifida occulta 56 32 Occasional (29-5%) HP:0003298
30 iris coloboma 56 32 Occasional (29-5%) HP:0000612
31 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
32 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
33 preaxial hand polydactyly 56 32 Occasional (29-5%) HP:0001177
34 triphalangeal thumb 56 32 Occasional (29-5%) HP:0001199
35 external ear malformation 56 32 Occasional (29-5%) HP:0008572
36 microcornea 56 32 Occasional (29-5%) HP:0000482
37 blepharospasm 56 32 Occasional (29-5%) HP:0000643
38 stenosis of the external auditory canal 56 32 Occasional (29-5%) HP:0000402
39 plagiocephaly 56 32 Occasional (29-5%) HP:0001357
40 narrow internal auditory canal 56 32 Occasional (29-5%) HP:0011386
41 aplasia/hypoplasia of the thumb 56 32 Occasional (29-5%) HP:0009601
42 hypoplasia of the radius 56 32 Occasional (29-5%) HP:0002984
43 abnormal vertebral segmentation and fusion 56 32 Frequent (79-30%) HP:0005640
44 aniridia 56 32 Occasional (29-5%) HP:0000526
45 central heterochromia 56 32 Occasional (29-5%) HP:0007818
46 short palpebral fissure 56 32 Very frequent (99-80%) HP:0012745
47 absent radius 56 32 Occasional (29-5%) HP:0003974
48 oculomotor nerve palsy 56 32 Very frequent (99-80%) HP:0012246
49 optic disc hypoplasia 56 32 Occasional (29-5%) HP:0007766
50 hypoplastic iris stroma 56 32 Occasional (29-5%) HP:0007990

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoplegia, ophthalmoparesis

MGI Mouse Phenotypes related to Duane Retraction Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CHN1 CHRNB3 COL25A1 FGF17 HOXA1 MAFB
2 nervous system MP:0003631 9.61 CHN1 COL25A1 ECEL1 FGF17 HOXA1 MAFB
3 respiratory system MP:0005388 9.1 COL25A1 ECEL1 HOXA1 MAFB ROBO3 TUBB3

Drugs & Therapeutics for Duane Retraction Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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

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 88)
id Title Authors Year
1
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
2
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
3
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
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
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
7
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
8
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
9
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
10
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
11
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
12
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
13
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
14
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
15
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
16
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
17
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
18
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
19
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
20
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
21
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
22
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
23
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
24
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
25
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
26
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
27
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
28
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. ( 24416505 )
2013
29
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
30
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
31
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
32
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. ( 24310235 )
2013
33
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. ( 22912401 )
2012
34
Vertical deviation and A pattern of type III Duane retraction syndrome. ( 22932093 )
2012
35
Duane retraction syndrome: series of 441 cases. ( 22074356 )
2012
36
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. ( 22258531 )
2012
37
Duane retraction syndrome with posterior microphthalmos: a rare association. ( 22881831 )
2012
38
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. ( 21405998 )
2011
39
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. ( 22606474 )
2011
40
Duane retraction syndrome mimicking orbital fracture. ( 21530027 )
2011
41
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. ( 21850174 )
2011
42
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. ( 21555619 )
2011
43
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. ( 21907111 )
2011
44
Distinctive clinical features of bilateral Duane retraction syndrome. ( 20736120 )
2010
45
Bilateral Duane retraction syndrome with optic nerve hypoplasia. ( 21214146 )
2010
46
Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. ( 20447154 )
2010
47
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. ( 20801148 )
2010
48
Case report: Duane Retraction Syndrome associated with hand anomaly. ( 20923409 )
2010
49
Clinical findings and surgical results of Duane retraction syndrome. ( 19791717 )
2010
50
Ocular motor ability and covert attention in patients with Duane Retraction Syndrome. ( 20600187 )
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 nervous system development GO:0007399 9.26 CHN1 FGF17 MAFB ROBO3
2 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....