DRS
MCID: DNR001
MIFTS: 45

Duane Retraction Syndrome (DRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Duane Retraction Syndrome

MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 11 42 58 28 5 43 14 38 71
Stilling-Turk-Duane Syndrome 11 42 58
Duane's Syndrome 11 42
Duane Syndrome 42 58
Isolated Duane Retraction Syndrome 42
Co-Contractive Retraction Syndrome 42
Ocular Retraction Syndrome 42
Duane Anomaly, Isolated 42
Durs 58
Drs 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Duane Retraction Syndrome

MedlinePlus Genetics: 42 Isolated Duane retraction 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. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. 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.

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 ophthalmoplegia and ophthalmoparesis. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skeletal muscle and skin, and related phenotypes are strabismus and short palpebral fissure

Orphanet: 58 A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.

Related Diseases for Duane Retraction Syndrome

Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 1 Duane Retraction Syndrome 2

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

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 33.4 MAFB CHN1
2 duane retraction syndrome 1 33.3 WFS1 DURS1 CHN1
3 duane-radial ray syndrome 32.3 SALL4 PHOX2A KIF21A CHN1
4 strabismus 32.0 ZC4H2 SALL4 ROBO3 PHOX2A MAFB KIF21A
5 esotropia 31.4 SALL4 ROBO3 PHOX2A KIF21A CHN1
6 exotropia 31.3 ZC4H2 ROBO3 PHOX2A KIF21A CHN1
7 amblyopia 31.2 PHOX2A MAFB KIF21A CHN1
8 refractive error 31.0 PHOX2A KIF21A CHN1
9 ocular motility disease 30.9 ROBO3 PHOX2A KIF21A CHN1
10 hypertropia 30.8 ROBO3 PHOX2A KIF21A CHN1
11 marcus gunn phenomenon 30.7 PHOX2A KIF21A
12 accommodative esotropia 30.5 PHOX2A CHN1
13 paralytic squint 30.4 PHOX2A KIF21A CHN1
14 congenital ptosis 30.4 ROBO3 PHOX2A KIF21A
15 hypotropia 30.4 ROBO3 PHOX2A KIF21A CHN1
16 moebius syndrome 30.1 ROBO3 PHOX2A KIF21A CHN1
17 congenital fibrosis of the extraocular muscles 30.0 SALL4 ROBO3 PHOX2A KIF21A CHN1
18 duane retraction syndrome 3 with or without deafness 12.0
19 blepharophimosis, ptosis, and epicanthus inversus 11.4
20 athabaskan brainstem dysgenesis syndrome 11.2
21 blepharonasofacial malformation syndrome 11.0
22 potocki-lupski syndrome 11.0
23 van maldergem syndrome 11.0
24 blepharo naso facial syndrome van maldergem type 11.0
25 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.5
26 movement disease 10.4
27 farsightedness 10.4
28 abducens palsy 10.4
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
30 papillon-lefevre syndrome 10.3
31 ptosis 10.3
32 subacute delirium 10.3
33 abnormal retinal correspondence 10.3 KIF21A CPA6 CHN1
34 refractive amblyopia 10.3 PHOX2A CHN1
35 myotonic cataract 10.3 PHOX2A KIF21A
36 fibrosis of extraocular muscles, congenital, 2 10.3 PHOX2A KIF21A
37 chronic nk-cell lymphocytosis 10.3 KIR3DL3 KIR2DL1
38 strabismic amblyopia 10.3 PHOX2A CHN1
39 tukel syndrome 10.3 PHOX2A KIF21A CA8
40 craniofacial microsomia 10.3
41 myopia 10.3
42 fibrosis of extraocular muscles, congenital, 1 10.2 PHOX2A KIF21A
43 cranial nerve disease 10.2 WFS1 PHOX2A KIF21A
44 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
45 miles-carpenter syndrome 10.2 ZC4H2 PHOX2A
46 diaphragmatic eventration 10.2 WFS1 CHN1
47 coloboma of macula 10.2
48 torticollis 10.2
49 retinitis pigmentosa 10.2
50 astigmatism 10.2

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:

58 30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000486
2 short palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012745
3 oculomotor nerve palsy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012246
4 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
5 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
6 low posterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0002162
7 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
8 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
9 abnormal vertebral segmentation and fusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0005640
10 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
11 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
12 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
13 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
14 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
15 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
16 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
17 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
18 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
19 everted lower lip vermilion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000232
20 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
21 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
22 webbed neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000465
23 ectopic kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000086
24 external ear malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008572
25 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001762
26 brachydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001156
27 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
28 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
29 chorioretinal coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000567
30 preauricular skin tag 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000384
31 abnormal pupil morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000615
32 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
33 hypopigmented skin patches 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001053
34 anorectal anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012732
35 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003298
36 preaxial hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001177
37 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000482
38 blepharospasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000643
39 triphalangeal thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001199
40 narrow internal auditory canal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011386
41 stenosis of the external auditory canal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000402
42 plagiocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001357
43 aplasia/hypoplasia of the thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009601
44 irregular hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007400
45 hypoplasia of the radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002984
46 aniridia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000526
47 absent radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003974
48 central heterochromia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007818
49 optic disc hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007766
50 hypoplastic iris stroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007990

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoplegia; ophthalmoparesis

MGI Mouse Phenotypes related to Duane Retraction Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CA8 CHN1 CLVS1 EPHA4 HOXD3 KIF21A

Drugs & Therapeutics for Duane Retraction Syndrome

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Duane Retraction Syndrome 28

Anatomical Context for Duane Retraction Syndrome

Organs/tissues related to Duane Retraction Syndrome:

MalaCards : Eye, Skeletal Muscle, Skin, Kidney, Heart, Small Intestine, Bone Marrow

Publications for Duane Retraction Syndrome

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 665)
# Title Authors PMID Year
1
Wildervanck syndrome: clinical case report. 62
36413195 2022
2
Refractive error in unilateral Duane syndrome. 62
36122873 2022
3
Duane Retraction Syndrome With Mechanical and Innervational Upshoot and Secondary Superior Rectus Contracture: A Surgical Challenge. 62
36415378 2022
4
Clinical characteristics and surgical approach in Duane retraction syndrome: a study of 691 patients. 62
35861933 2022
5
Concomitant Unilateral Duane Retraction Syndrome and Contralateral Brown's Syndrome. 62
35917503 2022
6
A three-dimensional analysis of the development of cranial nerves in human embryos. 62
35445445 2022
7
Duane retraction syndrome: Where and how is the abducens nerve? 62
35937726 2022
8
Clinical profile and magnetic resonance imaging characteristics of Duane retraction syndrome. 62
35937749 2022
9
Characteristics and long-term surgical outcomes of horizontal strabismus. 62
34978651 2022
10
Duane Retraction Syndrome: The Role of Botulinum Toxin A Injection in Adults and Its Impact on Quality of Life in an Indian Population. 62
35446195 2022
11
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. 62
34964110 2022
12
Coexistence of Idiopathic Intracranial Hypertension with Unilateral Duane Retraction Syndrome Type 1 in an Adult Female. 62
35702521 2022
13
Superior Rectus Transposition in the Management of Duane Retraction Syndrome: Current Insights. 62
35115760 2022
14
Success rates of botulinum toxin in different types of strabismus and dose effect. 62
35038409 2022
15
Superior Rectus Transposition Surgery: Safety, Efficacy, and Place in Therapy. 62
36444206 2022
16
Hummelsheim procedure combined with medial rectus recession in complete sixth nerve palsy and esotropic Duane Retraction Syndrome. 62
33228408 2022
17
A Rare Case of Bilateral Incomplete Duane's Syndrome with Synkinesis of the Levator and Lateral Rectus. 62
35859632 2022
18
Surgical Outcomes of Transposition Surgery for the Correction of Large-Angle Strabismus. 62
34788250 2021
19
Eye as the Legend of an Unknown Tale: Joubert Syndrome Masquerading as Duane Retraction Syndrome. 62
34924526 2021
20
Duane Retraction Syndrome Type 1. 62
34181991 2021
21
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. 62
33640901 2021
22
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. 62
34828254 2021
23
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. 62
33949289 2021
24
Outcomes of symmetric bilateral medial rectus recession in large-angle esotropic Duane syndrome. 62
33148050 2021
25
The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System. 62
34168008 2021
26
Duane-minus (Duane sine retraction and Duane sine limitation): possible incomplete forms of Duane retraction syndrome. 62
32839562 2021
27
Diplopia in Cases With Type 1 Duane Retraction Syndrome. 62
34164253 2021
28
Lateral rectus recession for consecutive exotropia in esotropic Duane syndrome: A case report. 62
35391814 2021
29
Novel finding of atrophic extraocular muscles in Loeys-Dietz syndrome: a case report and review of the literature. 62
33675960 2021
30
Superior Rectus Transposition and Medial Rectus Recession for Treatment of Duane Retraction Syndrome and Sixth Nerve Palsy. 62
33666529 2021
31
Bilateral augmented superior rectus transposition with medial rectus recession for bilateral esotropic Duane retraction syndrome. 62
33601043 2021
32
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease. 62
33667650 2021
33
Pseudo-Duane retraction syndrome after orbital myositis. 62
33652102 2021
34
Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know? 62
33189029 2021
35
Contralateral lateral rectus muscle recession in a patient with unilateral exotropic Duane retraction syndrome type II: A case report. 62
33455502 2021
36
Effect of lateral rectus muscle resection on abduction in Duane retraction syndrome type 1. 62
33185820 2021
37
Reoperation in esotropic Duane retraction syndrome: Long-term motor outcome of superior rectus transposition. 62
31888377 2021
38
A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita. 62
33480805 2021
39
The presence of anomalous extraocular bands in Duane retraction syndrome. 62
33601039 2021
40
Variant types of Duane retraction syndrome: synergistic divergences and convergences. 62
33607271 2021
41
Cyclosporine A Treatment of Proteinuria in a New Case of MAFB-Associated Glomerulopathy without Extrarenal Involvement: A Case Report. 62
33975323 2021
42
Surgical Outcomes of Exotropic Duane Retraction Syndrome From a Tertiary Eye Care Center. 62
33495792 2021
43
The Spectrum of Underlying Diseases in Children with Torticollis. 62
33759163 2021
44
[Improvement of surgical treatment of Duane syndrome in children]. 62
34965065 2021
45
Efficacy and complications of transposition surgery in Duane esotropia syndrome. 62
32873478 2021
46
Augmented superior rectus muscle transposition in management of defective ocular abduction. 62
33472581 2021
47
Vertical Tropia Following Horizontal Transposition Surgery. 62
34278218 2021
48
A reformed "release hypothesis" for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences. 62
33254517 2020
49
Impact of a hospital-wide huddle on device utilisation and infection rates: a community hospital's journey to zero. 62
33408760 2020
50
Incidence of symptomatic vertical and torsional diplopia after superior rectus transposition for esotropic Duane syndrome and abducens nerve palsy. 62
33045373 2020

Variations for Duane Retraction Syndrome

ClinVar genetic disease variations for Duane Retraction Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
2 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
3 KIF1A NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
4 CHN1 NM_001822.7(CHN1):c.*214dup DUP Uncertain Significance
332459 rs574270883 GRCh37: 2:175664629-175664630
GRCh38: 2:174799901-174799902
5 CHN1 NM_001822.7(CHN1):c.628-14dup DUP Uncertain Significance
332465 rs375494218 GRCh37: 2:175689249-175689250
GRCh38: 2:174824521-174824522
6 CHN1 NM_001822.7(CHN1):c.*687_*691del DEL Uncertain Significance
332454 rs886055152 GRCh37: 2:175664153-175664157
GRCh38: 2:174799425-174799429
7 CHN1 NM_001822.7(CHN1):c.628-15_628-14del MICROSAT Likely Benign
332466 rs547068631 GRCh37: 2:175689260-175689261
GRCh38: 2:174824532-174824533
8 CHN1 NM_001822.7(CHN1):c.*734_*737del DEL Likely Benign
332453 rs66480716 GRCh37: 2:175664107-175664110
GRCh38: 2:174799379-174799382

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

Sources for Duane Retraction Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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