DURS1
MCID: DNR003
MIFTS: 40

Duane Retraction Syndrome 1 (DURS1)

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 58 13
Duane Syndrome 58 77 25 54
Duane Retraction Syndrome 25 54 74
Duane Anomaly 58 54 6
Stilling-Turk-Duane Syndrome 25 54
Duane's Syndrome 30 6
Drs 58 54
Type 1 Duane Retraction Syndrome 74
Duane Anomaly, Isolated 25
Duane Syndrome; Dus 58
Retraction Syndrome 58
Durs1 58
Dus 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
duane retraction syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 58 126800
MedGen 43 C0994516

Summaries for Duane Retraction Syndrome 1

NIH Rare Diseases : 54 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 cri-du-chat syndrome and duane syndrome type 3, 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, thyroid and t cells, and related phenotypes are esotropia and impaired ocular abduction

OMIM : 58 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 : 77 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 1053)
# Related Disease Score Top Affiliating Genes
1 cri-du-chat syndrome 12.7
2 duane syndrome type 3 12.5
3 duane syndrome type 2 12.4
4 schinzel-giedion midface retraction syndrome 12.4
5 duane anomaly-myopathy-scoliosis syndrome 12.2
6 fibular hypoplasia and complex brachydactyly 12.2
7 duane-radial ray syndrome 12.0
8 koro 11.8
9 duane retraction syndrome 11.6
10 kniest dysplasia 11.5
11 wildervanck syndrome 11.4
12 duane syndrome type 1 11.4
13 8q12 microduplication syndrome 11.4
14 neu-laxova syndrome 1 11.4
15 oculopharyngodistal myopathy 11.2
16 bloom syndrome 11.2
17 bietti crystalline corneoretinal dystrophy 11.2
18 duane retraction syndrome 2 11.2
19 duane retraction syndrome 3 with or without deafness 11.2
20 lysosomal acid lipase deficiency 11.1
21 cone-rod dystrophy and hearing loss 2 11.1
22 jalili syndrome 11.1
23 mowat-wilson syndrome 11.1
24 potocki-shaffer syndrome 11.1
25 lrba deficiency 11.1
26 schinzel giedion syndrome 11.1
27 angelman syndrome 10.9
28 arrhythmogenic right ventricular dysplasia, familial, 1 10.9
29 thanatophoric dysplasia, type ii 10.9
30 cohen syndrome 10.9
31 apparent mineralocorticoid excess 10.9
32 primrose syndrome 10.9
33 pendred syndrome 10.9
34 weaver syndrome 10.9
35 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.9
36 brody myopathy 10.9
37 naxos disease 10.9
38 wiedemann-steiner syndrome 10.9
39 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.9
40 leprosy 1 10.9
41 potocki-lupski syndrome 10.9
42 bombay phenotype 10.9
43 kohler's disease 10.9
44 blackwater fever 10.9
45 alien hand syndrome 10.9
46 autoimmune inner ear disease 10.9
47 blepharophimosis intellectual disability syndromes 10.9
48 kienbock's disease 10.9
49 ledderhose disease 10.9
50 nevus of ota 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

Human phenotypes related to Duane Retraction Syndrome 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 esotropia 33 HP:0000565
2 impaired ocular abduction 33 HP:0000634
3 impaired convergence 33 HP:0000619
4 duane anomaly 33 HP:0009921
5 impaired ocular adduction 33 HP:0000542
6 palpebral fissure narrowing on adduction 33 HP:0000661

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Duane Retraction Syndrome 1:


ophthalmoparesis, ophthalmoplegia

Drugs & Therapeutics for Duane Retraction Syndrome 1

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 1

Genetic Tests for Duane Retraction Syndrome 1

Genetic tests related to Duane Retraction Syndrome 1:

# Genetic test Affiliating Genes
1 Duane's Syndrome 30

Anatomical Context for Duane Retraction Syndrome 1

MalaCards organs/tissues related to Duane Retraction Syndrome 1:

42
Eye, Thyroid, T Cells, Heart, Prostate, Lung, Liver

Publications for Duane Retraction Syndrome 1

Articles related to Duane Retraction Syndrome 1:

(show top 50) (show all 102)
# Title Authors Year
1
Superior or inferior rectus transposition in esotropic Duane syndrome: a longitudinal analysis. ( 30633960 )
2019
2
Botulinum toxin-A injection in esotropic Duane syndrome patients up to 2 years of age. ( 30654143 )
2019
3
Increased restriction from an accessory lateral rectus in exotropic Duane syndrome. ( 30735781 )
2019
4
Management of surgical overcorrections following surgery for Duane syndrome with esotropia in primary position. ( 30391554 )
2018
5
Surgical outcome of superior rectus transposition in esotropic Duane syndrome and abducens nerve palsy. ( 29199032 )
2018
6
Atypical Presentation of Giant Aneurysm in Pediatric Patient with Duane Syndrome. ( 29777883 )
2018
7
Anomalous Vertical Deviations in Attempted Abduction Occur in the Majority of Patients With Esotropic Duane Syndrome. ( 30098349 )
2018
8
Complications of augmented superior rectus transposition in Duane syndrome. ( 27542524 )
2017
9
Duane syndrome with prominent oculo-auricular phenomenon. ( 27965142 )
2017
10
Botulinum toxin injection in the patients with Duane syndrome type 1. ( 28367527 )
2017
11
Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report. ( 28523602 )
2017
12
Pearls and pitfalls in the management of Duane syndrome. ( 29018747 )
2017
13
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. ( 27181683 )
2016
14
Type 4 Duane syndrome. ( 27381527 )
2016
15
Exotropic Duane syndrome with synergistic divergence. ( 27457503 )
2016
16
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. ( 27663630 )
2016
17
Bilateral lateral rectus recession in exotropic Duane syndrome with downshoot. ( 28242889 )
2016
18
Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. ( 26486031 )
2015
19
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
20
Aligning Strabismus Surgery with Duane Syndrome. ( 26638255 )
2015
21
Duane syndrome: Clinical features and surgical management. ( 26257226 )
2015
22
Bilateral type III Duane syndrome: a case report. ( 26350988 )
2015
23
Accessory fibrotic lateral rectus muscles in exotropic Duane syndrome with severe retraction and upshoot. ( 26691035 )
2015
24
Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I. ( 27928278 )
2014
25
Wildervanck syndrome: an uncommon cause of Duane syndrome. ( 25085228 )
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
Superior rectus transposition vs medial rectus recession for treatment of esotropic Duane syndrome. ( 24763870 )
2014
28
Assessment of torsion after superior rectus transposition with or without medial rectus recession for Duane syndrome and abducens nerve palsy. ( 25266834 )
2014
29
Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia. ( 25378878 )
2014
30
Surgical management of enophthalmos in Duane syndrome. ( 23524730 )
2013
31
Isolated Y splitting and recession of the lateral rectus muscle in patients with exo-Duane syndrome. ( 23477768 )
2013
32
Response to: isolated Y-splitting and recession of the lateral rectus muscle in patients with exo-Duane syndrome. ( 23477769 )
2013
33
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. ( 23710497 )
2013
34
No, not more talk about Duane syndrome. ( 23710510 )
2013
35
Vertical muscle transposition augmented with lateral fixation (Foster) suture for Duane syndrome and sixth nerve palsy. ( 23907625 )
2013
36
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). ( 23234485 )
2012
37
Horizontal rectus surgery in Duane syndrome. ( 21725942 )
2012
38
Recurrent meningitis associated with Duane syndrome type I. ( 21963129 )
2012
39
Superior rectus transposition and medial rectus recession for Duane syndrome and sixth nerve palsy. ( 22332212 )
2012
40
Transient pseudo-Duane syndrome after lateral orbital trauma. ( 22370672 )
2012
41
Unilateral rectus muscle recession in the treatment of Duane syndrome. ( 22525170 )
2012
42
Profound weakening of the lateral rectus muscle with attachment to lateral canthal tendon for treatment of exotropic Duane syndrome. ( 22681950 )
2012
43
Isolated y-splitting and recession of the lateral rectus muscle in patients with exo-duane syndrome. ( 22906380 )
2012
44
Surgical management of bilateral esotropic Duane syndrome. ( 23084382 )
2012
45
Unilateral rectus muscle recession in the treatment of Duane syndrome. ( 23084396 )
2012
46
Bilateral type-I duane syndrome with multiple anamolies: a case report. ( 23205369 )
2012
47
The efficacy of asymmetric bilateral medial rectus muscle recession surgery in unilateral, esotropic, type 1 Duane syndrome. ( 23237751 )
2012
48
Goldenhar syndrome in association with Duane syndrome. ( 23279771 )
2012
49
Comparison of primary position measurements and abduction deficit between type 1 Duane syndrome and sixth cranial nerve palsy. ( 21343829 )
2011
50
Nishida's procedure combined with medial rectus recession for large-angle esotropia in Duane syndrome. ( 21559912 )
2011

Variations for Duane Retraction Syndrome 1

ClinVar genetic disease variations for Duane Retraction Syndrome 1:

6 (show top 50) (show all 65)
# 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 GRCh38 Chromosome 2, 174800174: 174800174
10 CHN1 NM_001822.5(CHN1): c.1322T> C (p.Ile441Thr) single nucleotide variant not provided GRCh37 Chromosome 2, 175664902: 175664902
11 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 175689207: 175689207
12 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 174824479: 174824479
13 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 241686664: 241686664
14 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 240747247: 240747247
15 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 6303521: 6303521
16 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 6301794: 6301794
17 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh37 Chromosome 2, 175869800: 175869800
18 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh38 Chromosome 2, 175005072: 175005072
19 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh38 Chromosome 2, 175005016: 175005016
20 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh37 Chromosome 2, 175869744: 175869744
21 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh37 Chromosome 2, 175869714: 175869714
22 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh37 Chromosome 2, 175664107: 175664110
23 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh38 Chromosome 2, 174799379: 174799382
24 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh38 Chromosome 2, 175004986: 175004986
25 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh37 Chromosome 2, 175742685: 175742685
26 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh38 Chromosome 2, 174877957: 174877957
27 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh37 Chromosome 2, 175664176: 175664176
28 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh38 Chromosome 2, 174799448: 174799448
29 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh37 Chromosome 2, 175869708: 175869708
30 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh38 Chromosome 2, 175004980: 175004980
31 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh37 Chromosome 2, 175869676: 175869676
32 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh38 Chromosome 2, 175004948: 175004948
33 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh37 Chromosome 2, 175742617: 175742617
34 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh38 Chromosome 2, 174877889: 174877889
35 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh37 Chromosome 2, 175689260: 175689261
36 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh38 Chromosome 2, 174824532: 174824533
37 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh37 Chromosome 2, 175676233: 175676233
38 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh38 Chromosome 2, 174811505: 174811505
39 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh37 Chromosome 2, 175664816: 175664816
40 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh38 Chromosome 2, 174800088: 174800088
41 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh37 Chromosome 2, 175664153: 175664157
42 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh38 Chromosome 2, 174799425: 174799429
43 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh37 Chromosome 2, 175869938: 175869938
44 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh38 Chromosome 2, 175005210: 175005210
45 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh37 Chromosome 2, 175689250: 175689250
46 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh38 Chromosome 2, 174824522: 174824522
47 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh37 Chromosome 2, 175677022: 175677022
48 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh38 Chromosome 2, 174812294: 174812294
49 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh37 Chromosome 2, 175664905: 175664905
50 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh38 Chromosome 2, 174800177: 174800177

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

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