DRS
MCID: DNR003
MIFTS: 40

Duane Retraction Syndrome 1 (DRS)

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

Aliases & Classifications for Duane Retraction Syndrome 1

MalaCards integrated aliases for Duane Retraction Syndrome 1:

Name: Duane Retraction Syndrome 1 57 13
Duane Syndrome 57 76 24 53
Duane Anomaly 57 53 29 6
Duane Retraction Syndrome 24 53 73
Stilling-Turk-Duane Syndrome 24 53
Drs 57 53
Type 1 Duane Retraction Syndrome 73
Duane Anomaly, Isolated 24
Duane Syndrome; Dus 57
Retraction Syndrome 57
Durs1 57
Dus 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
may be associated with other anomalies (e.g. okihiro syndrome , wildervanck syndrome )


HPO:

32
duane retraction syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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:

OMIM 57 126800
MedGen 42 C0994516

Summaries for Duane Retraction Syndrome 1

NIH Rare Diseases : 53 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. 

MalaCards based summary : Duane Retraction Syndrome 1, also known as duane syndrome, is related to duane retraction syndrome and cri-du-chat syndrome, and has symptoms including ophthalmoparesis and ophthalmoplegia. An important gene associated with Duane Retraction Syndrome 1 is MAFB (MAF BZIP Transcription Factor B). Affiliated tissues include eye, lung and liver, and related phenotypes are esotropia and impaired ocular abduction

OMIM : 57 Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision (Appukuttan et al., 1999). (126800)

Wikipedia : 76 Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of... more...

GeneReviews: NBK1190

Related Diseases for Duane Retraction Syndrome 1

Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 1 Duane Retraction Syndrome 2

Diseases related to Duane Retraction Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 905)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 31.9 MAFB DURS1
2 cri-du-chat syndrome 12.6
3 duane syndrome type 3 12.3
4 duane syndrome type 2 12.3
5 schinzel-giedion midface retraction syndrome 12.3
6 duane anomaly-myopathy-scoliosis syndrome 12.1
7 fibular hypoplasia and complex brachydactyly 12.1
8 duane-radial ray syndrome 11.9
9 koro 11.8
10 kniest dysplasia 11.4
11 wildervanck syndrome 11.4
12 duane syndrome type 1 11.3
13 neu-laxova syndrome 1 11.3
14 8q12 microduplication syndrome 11.3
15 oculopharyngodistal myopathy 11.2
16 schinzel giedion syndrome 11.1
17 duane retraction syndrome 2 11.1
18 duane retraction syndrome 3 with or without deafness 11.1
19 perrault syndrome 1 11.1
20 proteus syndrome 11.0
21 jalili syndrome 11.0
22 mowat-wilson syndrome 11.0
23 lrba deficiency 11.0
24 blepharophimosis, ptosis, and epicanthus inversus 11.0
25 cataract 32, multiple types 10.9
26 centralopathic epilepsy 10.9
27 craniosynostosis 1 10.9
28 elastosis perforans serpiginosa 10.9
29 emphysema, congenital lobar 10.9
30 peroxisome biogenesis disorder 1a 10.9
31 fanconi anemia, complementation group c 10.9
32 farber lipogranulomatosis 10.9
33 renal glucosuria 10.9
34 neuraminidase deficiency 10.9
35 testicular regression syndrome 10.9
36 werner syndrome 10.9
37 lysosomal acid lipase deficiency 10.9
38 hypophosphatemic rickets, x-linked dominant 10.9
39 lowe oculocerebrorenal syndrome 10.9
40 spastic paraplegia, ataxia, and mental retardation 10.9
41 malaria, mild 10.9
42 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
43 macs syndrome 10.9
44 hemorrhage, intracerebral 10.9
45 cole disease 10.9
46 blood group, gerbich system 10.9
47 al-raqad syndrome 10.9
48 immunodeficiency-centromeric instability-facial anomalies syndrome 10.9
49 lyme disease 10.9
50 spindle cell hemangioma 10.9

Graphical network of the top 20 diseases related to Duane Retraction Syndrome 1:



Diseases related to Duane Retraction Syndrome 1

Symptoms & Phenotypes for Duane Retraction Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
impaired ocular abduction
impaired convergence
congenital strabismus
impaired ocular adduction
globe retraction and deviation on adduction
more

Clinical features from OMIM:

126800

Human phenotypes related to Duane Retraction Syndrome 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 esotropia 32 HP:0000565
2 impaired ocular abduction 32 HP:0000634
3 impaired convergence 32 HP:0000619
4 duane anomaly 32 HP:0009921
5 impaired ocular adduction 32 HP:0000542
6 palpebral fissure narrowing on adduction 32 HP:0000661

UMLS symptoms related to Duane Retraction Syndrome 1:


ophthalmoparesis, ophthalmoplegia

Drugs & Therapeutics for Duane Retraction Syndrome 1

Search Clinical Trials , NIH Clinical Center for Duane Retraction Syndrome 1

Genetic Tests for Duane Retraction Syndrome 1

Genetic tests related to Duane Retraction Syndrome 1:

# Genetic test Affiliating Genes
1 Duane Anomaly 29

Anatomical Context for Duane Retraction Syndrome 1

MalaCards organs/tissues related to Duane Retraction Syndrome 1:

41
Eye, Lung, Liver, Heart, Prostate, Thyroid, T Cells

Publications for Duane Retraction Syndrome 1

Articles related to Duane Retraction Syndrome 1:

(show top 50) (show all 100)
# Title Authors Year
1
Management of surgical overcorrections following surgery for Duane syndrome with esotropia in primary position. ( 30391554 )
2018
2
Surgical outcome of superior rectus transposition in esotropic Duane syndrome and abducens nerve palsy. ( 29199032 )
2018
3
Atypical Presentation of Giant Aneurysm in Pediatric Patient with Duane Syndrome. ( 29777883 )
2018
4
Anomalous Vertical Deviations in Attempted Abduction Occur in the Majority of Patients With Esotropic Duane Syndrome. ( 30098349 )
2018
5
Complications of augmented superior rectus transposition in Duane syndrome. ( 27542524 )
2017
6
Duane syndrome with prominent oculo-auricular phenomenon. ( 27965142 )
2017
7
Botulinum toxin injection in the patients with Duane syndrome type 1. ( 28367527 )
2017
8
Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report. ( 28523602 )
2017
9
Pearls and pitfalls in the management of Duane syndrome. ( 29018747 )
2017
10
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. ( 27181683 )
2016
11
Type 4 Duane syndrome. ( 27381527 )
2016
12
Exotropic Duane syndrome with synergistic divergence. ( 27457503 )
2016
13
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. ( 27663630 )
2016
14
Bilateral lateral rectus recession in exotropic Duane syndrome with downshoot. ( 28242889 )
2016
15
Aligning Strabismus Surgery with Duane Syndrome. ( 26638255 )
2015
16
Recessive COL25A1 mutations cause isolated congenital ptosis orA exotropic Duane syndrome with synergistic divergence. ( 26486031 )
2015
17
Plication augmentation of the modified Hummelsheim procedure for treatment of large-angle esotropia due to abducens nerve palsy and type 1 Duane syndrome. ( 26235793 )
2015
18
Duane syndrome: Clinical features and surgical management. ( 26257226 )
2015
19
Bilateral type III Duane syndrome: a case report. ( 26350988 )
2015
20
Accessory fibrotic lateral rectus muscles in exotropic Duane syndrome with severe retraction and upshoot. ( 26691035 )
2015
21
Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia. ( 25378878 )
2014
22
Wildervanck syndrome: An uncommon cause of Duane syndrome. ( 25085228 )
2014
23
Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I. ( 27928278 )
2014
24
Superior rectus transposition vs medial rectus recession for treatment of esotropic Duane syndrome. ( 24763870 )
2014
25
Assessment of torsion after superior rectus transposition with or without medial rectus recession for Duane syndrome and abducens nerve palsy. ( 25266834 )
2014
26
Isolated lateral rectus recession with Y splitting versus anchoring of the lateral rectus muscle in patients with exotropic Duane syndrome. ( 24698611 )
2014
27
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. ( 23710497 )
2013
28
Surgical management of enophthalmos in Duane syndrome. ( 23524730 )
2013
29
Vertical muscle transposition augmented with lateral fixation (Foster) suture for Duane syndrome and sixth nerve palsy. ( 23907625 )
2013
30
Isolated Y splitting and recession of the lateral rectus muscle in patients with exo-Duane syndrome. ( 23477768 )
2013
31
Response to: isolated Y-splitting and recession of the lateral rectus muscle in patients with exo-Duane syndrome. ( 23477769 )
2013
32
No, not more talk about Duane syndrome. ( 23710510 )
2013
33
Goldenhar syndrome in association with Duane syndrome. ( 23279771 )
2012
34
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). ( 23234485 )
2012
35
Superior rectus transposition and medial rectus recession for Duane syndrome and sixth nerve palsy. ( 22332212 )
2012
36
Horizontal rectus surgery in Duane syndrome. ( 21725942 )
2012
37
Recurrent meningitis associated with Duane syndrome type I. ( 21963129 )
2012
38
Transient pseudo-Duane syndrome after lateral orbital trauma. ( 22370672 )
2012
39
Unilateral rectus muscle recession in the treatment of Duane syndrome. ( 22525170 )
2012
40
Profound weakening of the lateral rectus muscle with attachment to lateral canthal tendon for treatment of exotropic Duane syndrome. ( 22681950 )
2012
41
Isolated y-splitting and recession of the lateral rectus muscle in patients with exo-duane syndrome. ( 22906380 )
2012
42
Surgical management of bilateral esotropic Duane syndrome. ( 23084382 )
2012
43
Unilateral rectus muscle recession in the treatment of Duane syndrome. ( 23084396 )
2012
44
Bilateral type-I duane syndrome with multiple anamolies: a case report. ( 23205369 )
2012
45
The efficacy of asymmetric bilateral medial rectus muscle recession surgery in unilateral, esotropic, type 1 Duane syndrome. ( 23237751 )
2012
46
Nishida's procedure combined with medial rectus recession for large-angle esotropia in Duane syndrome. ( 21559912 )
2011
47
Comparison of primary position measurements and abduction deficit between type 1 Duane syndrome and sixth cranial nerve palsy. ( 21343829 )
2011
48
Congenital sixth nerve palsy or Type I Duane syndrome? ( 21897628 )
2011
49
Duane syndrome in association with 48,XXYY karyotype. ( 21680214 )
2011
50
Medial rectus recession after vertical rectus transposition in patients with esotropic Duane syndrome. ( 21911667 )
2011

Variations for Duane Retraction Syndrome 1

ClinVar genetic disease variations for Duane Retraction Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh37 Chromosome 20, 39316129: 39317100
2 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh38 Chromosome 20, 40687489: 40688460
3 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh38 Chromosome 20, 40688048: 40688048
4 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh37 Chromosome 20, 39316688: 39316688
5 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh37 Chromosome 20, 39316847: 39316847
6 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh38 Chromosome 20, 40688207: 40688207
7 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh38 Chromosome 20, 40688411: 40688411
8 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh37 Chromosome 20, 39317051: 39317051
9 CHN1 NM_001822.5(CHN1): c.1322T> C (p.Ile441Thr) single nucleotide variant not provided rs552090021 GRCh38 Chromosome 2, 174800174: 174800174
10 CHN1 NM_001822.5(CHN1): c.1322T> C (p.Ile441Thr) single nucleotide variant not provided rs552090021 GRCh37 Chromosome 2, 175664902: 175664902

Expression for Duane Retraction Syndrome 1

Search GEO for disease gene expression data for Duane Retraction Syndrome 1.

Pathways for Duane Retraction Syndrome 1

GO Terms for Duane Retraction Syndrome 1

Sources for Duane Retraction Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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