DRS
MCID: DNR003
MIFTS: 34

Duane Retraction Syndrome 1 (DRS)

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Fetal 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
Duane's Syndrome 29 6
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:
may be associated with other anomalies (e.g. okihiro syndrome , wildervanck syndrome )
clinical variability


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
UMLS 73 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 ophthalmoplegia and ophthalmoparesis. An important gene associated with Duane Retraction Syndrome 1 is MAFB (MAF BZIP Transcription Factor B). Affiliated tissues include eye, and related phenotypes are impaired ocular abduction and impaired convergence

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 113)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 30.6 DURS1 MAFB
2 cri-du-chat syndrome 12.5
3 isolated duane retraction syndrome 12.3
4 duane anomaly-myopathy-scoliosis syndrome 12.0
5 fibular hypoplasia and complex brachydactyly 12.0
6 duane-radial ray syndrome 11.6
7 kniest dysplasia 11.3
8 duane syndrome type 1 11.2
9 duane retraction syndrome 2 11.0
10 duane retraction syndrome 3 with or without deafness 11.0
11 lysosomal acid lipase deficiency 10.9
12 prostatitis 10.3
13 prostate cancer 10.2
14 myocardial infarction 10.1
15 myocarditis 10.1
16 zollinger-ellison syndrome 9.9
17 myeloma, multiple 9.9
18 leukemia 9.8
19 epilepsy 9.8
20 cerebritis 9.8
21 developmental coordination disorder 9.8
22 developmental dyspraxia 9.8
23 multiple endocrine neoplasia, type i 9.7
24 hepatitis 9.7
25 brachydactyly 9.7
26 acromesomelic dysplasia 9.7
27 choroiditis 9.7
28 arachnoiditis 9.7
29 adenocarcinoma 9.7
30 ischemia 9.7
31 pancreatitis 9.7
32 neuropathy 9.7
33 choroid plexus cyst 9.7
34 plasma cell leukemia 9.7
35 multiple endocrine neoplasia 9.7
36 alzheimer disease 9.6
37 arteries, anomalies of 9.6
38 colorectal cancer 9.6
39 hepatocellular carcinoma 9.6
40 hirschsprung disease 1 9.6
41 jacobsen syndrome 9.6
42 hemifacial microsomia 9.6
43 spinal arachnoiditis 9.6
44 digeorge syndrome 9.6
45 autism 9.6
46 cerebellar hypoplasia 9.6
47 pancreatic cancer 9.6
48 peters-plus syndrome 9.6
49 orofaciodigital syndrome viii 9.6
50 asthma 9.6

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:
congenital strabismus
impaired ocular abduction
impaired ocular adduction
globe retraction and deviation on adduction
palpebral fissure narrowing 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 impaired ocular abduction 32 HP:0000634
2 impaired convergence 32 HP:0000619
3 duane anomaly 32 HP:0009921
4 congenital strabismus 32 HP:0000487
5 impaired ocular adduction 32 HP:0000542
6 palpebral fissure narrowing on adduction 32 HP:0000661

UMLS symptoms related to Duane Retraction Syndrome 1:


ophthalmoplegia, ophthalmoparesis

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 29
2 Duane Anomaly 29

Anatomical Context for Duane Retraction Syndrome 1

MalaCards organs/tissues related to Duane Retraction Syndrome 1:

41
Eye

Publications for Duane Retraction Syndrome 1

Articles related to Duane Retraction Syndrome 1:

(show all 28)
# Title Authors Year
1
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. ( 27181683 )
2016
2
Aligning Strabismus Surgery with Duane Syndrome. ( 26638255 )
2015
3
Recessive COL25A1 mutations cause isolated congenital ptosis orA exotropic Duane syndrome with synergistic divergence. ( 26486031 )
2015
4
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
5
Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia. ( 25378878 )
2014
6
Wildervanck syndrome: An uncommon cause of Duane syndrome. ( 25085228 )
2014
7
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. ( 23710497 )
2013
8
Surgical management of enophthalmos in Duane syndrome. ( 23524730 )
2013
9
Goldenhar syndrome in association with Duane syndrome. ( 23279771 )
2012
10
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). ( 23234485 )
2012
11
Nishida's procedure combined with medial rectus recession for large-angle esotropia in Duane syndrome. ( 21559912 )
2011
12
Comparison of primary position measurements and abduction deficit between type 1 Duane syndrome and sixth cranial nerve palsy. ( 21343829 )
2011
13
Lateral rectus resection strabismus surgery in unilateral duane syndrome with esotropia and limited abduction. ( 20923408 )
2010
14
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). ( 19005989 )
2008
15
Duane syndrome associated with the Cat Eye syndrome: a case report. ( 17001329 )
2007
16
Comparison of orbital magnetic resonance imaging in duane syndrome and abducens palsy. ( 17452191 )
2007
17
Bilateral Duane syndrome and bilateral aniridia. ( 16814183 )
2006
18
Comparison of orbital magnetic resonance imaging in duane syndrome and abducens palsy. ( 16989758 )
2006
19
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. ( 16283882 )
2005
20
Are Duane syndrome and infantile esotropia allelic? ( 15512995 )
2004
21
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. ( 12454025 )
2002
22
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. ( 11409867 )
2001
23
Grand rounds #51: a case of consecutive exotropia after medial rectus recession for Duane syndrome. ( 9780416 )
1998
24
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. ( 9781021 )
1998
25
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. ( 7849713 )
1994
26
Duane Syndrome ( 20301369 )
1993
27
Occult Duane syndrome: co-contraction revealed following strabismus surgery. ( 1757858 )
1991
28
Duane syndrome associated with oculocutaneous albinism. ( 2019956 )
1991

Variations for Duane Retraction Syndrome 1

ClinVar genetic disease variations for Duane Retraction Syndrome 1:

6
(show top 50) (show all 57)
# 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 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
10 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh38 Chromosome 2, 174824533: 174824533
11 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh37 Chromosome 2, 175689261: 175689261
12 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh38 Chromosome 2, 175005183: 175005183
13 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh37 Chromosome 2, 175869911: 175869911
14 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh38 Chromosome 2, 174799439: 174799439
15 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh37 Chromosome 2, 175664167: 175664167
16 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh38 Chromosome 2, 174799473: 174799473
17 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh37 Chromosome 2, 175664201: 175664201
18 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh38 Chromosome 2, 174799508: 174799508
19 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh37 Chromosome 2, 175664236: 175664236
20 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh38 Chromosome 2, 174799902: 174799902
21 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh37 Chromosome 2, 175664630: 175664630
22 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh38 Chromosome 2, 174799962: 174799962
23 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh37 Chromosome 2, 175664690: 175664690
24 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh38 Chromosome 2, 174800177: 174800177
25 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh37 Chromosome 2, 175664905: 175664905
26 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh38 Chromosome 2, 174812294: 174812294
27 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh37 Chromosome 2, 175677022: 175677022
28 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh38 Chromosome 2, 174824522: 174824522
29 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh37 Chromosome 2, 175689250: 175689250
30 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh37 Chromosome 2, 175869938: 175869938
31 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh38 Chromosome 2, 175005210: 175005210
32 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh38 Chromosome 2, 174800088: 174800088
33 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh37 Chromosome 2, 175664816: 175664816
34 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh38 Chromosome 2, 174799425: 174799429
35 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh37 Chromosome 2, 175664153: 175664157
36 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh38 Chromosome 2, 174811505: 174811505
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.628-15_628-14delCT deletion Likely benign rs547068631 GRCh38 Chromosome 2, 174824532: 174824533
39 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh37 Chromosome 2, 175689260: 175689261
40 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh38 Chromosome 2, 174877889: 174877889
41 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh37 Chromosome 2, 175742617: 175742617
42 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh38 Chromosome 2, 175004948: 175004948
43 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh37 Chromosome 2, 175869676: 175869676
44 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh38 Chromosome 2, 175004980: 175004980
45 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh37 Chromosome 2, 175869708: 175869708
46 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh37 Chromosome 2, 175664176: 175664176
47 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh38 Chromosome 2, 174799448: 174799448
48 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh38 Chromosome 2, 174799379: 174799382
49 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh37 Chromosome 2, 175664107: 175664110
50 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh38 Chromosome 2, 174877957: 174877957

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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