MCID: DNR001
MIFTS: 44

Duane Retraction Syndrome

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

Aliases & Classifications for Duane Retraction Syndrome

MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 12 55 36 41 14 69
Stilling-Turk-Duane Syndrome 12 55
Duane's Syndrome 12
Duane Syndrome 55
Durs 55
Drs 55

Characteristics:

Orphanet epidemiological data:

55
duane retraction syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Duane Retraction Syndrome

MalaCards based summary : Duane Retraction Syndrome, also known as stilling-turk-duane syndrome, is related to duane retraction syndrome 1 and duane retraction syndrome 2, and has symptoms including ectopic kidney, cleft palate and everted lower lip vermilion. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 59)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 1 34.3 DURS1 MAFB
2 duane retraction syndrome 2 34.3 CHN1 MAFB
3 duane syndrome type 2 32.5 CHN1 MAFB
4 duane-radial ray syndrome 32.0 CHN1 SALL4
5 strabismus 31.5 CHN1 KIF21A TUBB3
6 esotropia 29.6 CHN1 TUBB3
7 exotropia 29.5 CHN1 KIF21A TUBB3
8 isolated duane retraction syndrome 12.6
9 duane retraction syndrome 3 with or without deafness 12.5
10 duane syndrome type 1 11.6
11 duane syndrome type 3 11.1
12 retinitis 10.0
13 periostitis 10.0
14 marcus gunn phenomenon 9.9 CHN1 TUBB3
15 achondroplasia 9.9
16 hemifacial microsomia with radial defects 9.9
17 solitary median maxillary central incisor 9.9
18 hemifacial microsomia 9.9
19 optic nerve hypoplasia, bilateral 9.9
20 vater/vacterl association 9.9
21 muscular dystrophy, duchenne type 9.9
22 retinitis pigmentosa-deafness syndrome 9.9
23 aging 9.9
24 chromosome 16p13.3 deletion syndrome, proximal 9.9
25 glass syndrome 9.9
26 bardet-biedl syndrome 2 9.9
27 bardet-biedl syndrome 10 9.9
28 bardet-biedl syndrome 11 9.9
29 bardet-biedl syndrome 12 9.9
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
31 brown syndrome 9.9
32 usher syndrome 9.9
33 oculocutaneous albinism 9.9
34 usher syndrome type 2 9.9
35 cysticercosis 9.9
36 abducens nerve disease 9.9
37 heart disease 9.9
38 vacterl association 9.9
39 bardet-biedl syndrome 9.9
40 craniopharyngioma 9.9
41 muscular dystrophy 9.9
42 albinism 9.9
43 chiari malformation 9.9
44 ependymoma 9.9
45 growth hormone deficiency 9.9
46 pachygyria 9.9
47 amblyopia 9.8 CHN1 MAFB TUBB3
48 hypotropia 9.6 CHN1 KIF21A TUBB3
49 hypertropia 9.6 CHN1 KIF21A TUBB3
50 cranial nerve disease 9.6 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:

55 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
2 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
3 everted lower lip vermilion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000232
4 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
5 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
6 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
7 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
8 stenosis of the external auditory canal 55 31 occasional (7.5%) Occasional (29-5%) HP:0000402
9 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
10 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
11 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
12 webbed neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000465
13 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
14 microcornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000482
15 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
16 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
17 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
18 aniridia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000526
19 chorioretinal coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000567
20 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
21 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
22 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
23 blepharospasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0000643
24 amblyopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000646
25 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
26 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
27 preaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001177
28 triphalangeal thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0001199
29 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
30 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
31 plagiocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001357
32 talipes equinovarus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001762
33 low posterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0002162
34 hypoplasia of the radius 55 31 occasional (7.5%) Occasional (29-5%) HP:0002984
35 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
36 spina bifida occulta 55 31 occasional (7.5%) Occasional (29-5%) HP:0003298
37 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
38 absent radius 55 31 occasional (7.5%) Occasional (29-5%) HP:0003974
39 abnormal vertebral segmentation and fusion 55 31 frequent (33%) Frequent (79-30%) HP:0005640
40 irregular hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007400
41 optic disc hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007766
42 central heterochromia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007818
43 hypoplastic iris stroma 55 31 occasional (7.5%) Occasional (29-5%) HP:0007990
44 external ear malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0008572
45 aplasia/hypoplasia of the thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009601
46 patchy hypopigmentation of hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0011365
47 narrow internal auditory canal 55 31 occasional (7.5%) Occasional (29-5%) HP:0011386
48 oculomotor nerve palsy 55 31 hallmark (90%) Very frequent (99-80%) HP:0012246
49 camptodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0012385
50 anorectal anomaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0012732

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoparesis, ophthalmoplegia

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

25 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.81 KIR2DL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.81 CPA6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.81 KIR2DL4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.81 CPA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.81 CPA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.81 KIR2DL1 KIR2DL4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.81 KIR2DL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 KIR2DL4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.81 KIR2DL1 KIR2DL4 CPA6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 KIR2DL1 KIR2DL4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.81 KIR2DL1 CPA6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 KIR2DL1 KIR2DL4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.81 KIR2DL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.81 KIR2DL4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.81 CPA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.81 KIR2DL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 KIR2DL4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.81 KIR2DL4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.81 KIR2DL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.81 KIR2DL4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 KIR2DL4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.81 KIR2DL1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.81 KIR2DL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 KIR2DL4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.81 CPA6

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

Anatomical Context for Duane Retraction Syndrome

MalaCards organs/tissues related to Duane Retraction Syndrome:

38
Eye, Skin, Heart, Kidney, Skeletal Muscle, Colon

Publications for Duane Retraction Syndrome

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 98)
# Title Authors Year
1
Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy. ( 29299740 )
2018
2
The Efficacy of Bilateral Lateral Rectus Recession According to Secondary Deviation Measurements in Unilateral Exotropic Duane Retraction Syndrome. ( 28991345 )
2018
3
Mutant I+2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. ( 28346224 )
2017
4
Surgical treatment of Duane retraction syndrome. ( 29270470 )
2017
5
Anomalous Lateral Rectus Muscle Band in a Case of Duane Retraction Syndrome. ( 29135308 )
2017
6
Y-splitting with recession of lateral rectus versus lateral rectus recession in correcting upshoot in Duane retraction syndrome. ( 29018752 )
2017
7
Duane retraction syndrome: causes, effects and management strategies. ( 29133973 )
2017
8
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
9
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
10
CHN1 gene mutation analysis in patients with Duane retraction syndrome. ( 29031989 )
2017
11
Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report. ( 28526001 )
2017
12
The genetics of nonsyndromic bilateral Duane retraction syndrome. ( 27658539 )
2016
13
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
14
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
15
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
2016
16
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
17
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
18
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. ( 26833229 )
2016
19
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
20
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
21
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
22
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
23
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
24
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
25
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
26
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
27
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
28
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
29
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
30
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
31
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
32
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. ( 24310235 )
2013
33
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
34
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
35
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
36
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
37
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
38
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
39
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. ( 24416505 )
2013
40
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
41
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
42
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
43
Duane retraction syndrome: series of 441 cases. ( 22074356 )
2012
44
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. ( 22258531 )
2012
45
Vertical deviation and A pattern of type III Duane retraction syndrome. ( 22932093 )
2012
46
Duane retraction syndrome with posterior microphthalmos: a rare association. ( 22881831 )
2012
47
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. ( 22912401 )
2012
48
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. ( 21907111 )
2011
49
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. ( 21405998 )
2011
50
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. ( 21555619 )
2011

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:

# Name GO ID Score Top Affiliating Genes
1 regulation of axonogenesis GO:0050770 9.16 CHN1 EPHA4
2 motor neuron axon guidance GO:0008045 8.96 CHN1 EPHA4
3 abducens nerve formation GO:0021599 8.62 HOXA1 MAFB

Molecular functions related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor binding GO:0046875 8.62 CHN1 EPHA4

Sources for Duane Retraction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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