DURS1
MCID: DNR003
MIFTS: 39

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 57 13
Duane Syndrome 57 73 25 20
Duane Retraction Syndrome 25 20 70
Duane Anomaly 57 20 6
Stilling-Turk-Duane Syndrome 25 20
Duane's Syndrome 29 6
Drs 57 20
Type 1 Duane Retraction Syndrome 70
Duane Anomaly, Isolated 25
Duane Syndrome; Dus 57
Retraction Syndrome 57
Durs1 57
Dus 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
duane retraction syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Families with duane syndrome 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
OMIM Phenotypic Series 57 PS126800
MedGen 41 C0994516
UMLS 70 C0013261 C0994516

Summaries for Duane Retraction Syndrome 1

GARD : 20 Duane syndrome affects the ability of the eye to move from side to side. Symptoms include restricted movement of eye outward and/or inward and the eyeball may be pulled back into the socket. In addition, the opening of the eye may be narrow. Some people with Duane syndrome develop "lazy eye" ( amblyopia ), a condition that may cause vision loss in the affected eye. Duane syndrome usually only occurs in one eye, and is not associated with other signs or symptoms. There are three types of Duane syndrome, which vary by which eye movements are most severely restricted. The exact cause of Duane syndrome is unknown. About 10% of cases are inherited in families in an autosomal dominant pattern. Diagnosis of Duane syndrome is based on the symptoms, an eye exam, and imaging studies. Treatment is focused on managing the symptoms, and includes corrective eye glasses and contact lens, and sometimes surgery.

MalaCards based summary : Duane Retraction Syndrome 1, also known as duane syndrome, is related to duane retraction syndrome 2 and duane retraction 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, brain and heart, and related phenotypes are impaired ocular abduction and esotropia

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) (Updated 20-May-2021)

Wikipedia : 73 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 331)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 31.2 MAFB CHN1
2 duane retraction syndrome 30.9 MAFB DURS1 CHN1
3 amblyopia 30.0 MAFB CHN1
4 cleft palate, isolated 28.7 WFS1 MAFB CHN1
5 schinzel-giedion midface retraction syndrome 11.6
6 8q12 microduplication syndrome 11.3
7 duane-radial ray syndrome 11.2
8 duane anomaly-myopathy-scoliosis syndrome 11.1
9 koro 11.1
10 wildervanck syndrome 11.0
11 athabaskan brainstem dysgenesis syndrome 10.9
12 duane retraction syndrome 3 with or without deafness 10.9
13 blepharonasofacial malformation syndrome 10.9
14 potocki-lupski syndrome 10.9
15 van maldergem syndrome 10.9
16 robinow syndrome 10.9
17 subacute delirium 10.3
18 torticollis 10.2
19 ptosis 10.2
20 suppression amblyopia 10.2
21 strabismus 10.1
22 mechanical strabismus 10.1
23 abducens nerve disease 10.1
24 microvascular complications of diabetes 5 10.1
25 scleroderma, familial progressive 10.1
26 branchiootic syndrome 1 10.1
27 enophthalmos 10.1
28 cataract 10.1
29 sensorineural hearing loss 10.1
30 monocular esotropia 10.0
31 alternating exotropia 10.0
32 exotropia 10.0
33 esotropia 10.0
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
35 myopia 10.0
36 microvascular complications of diabetes 1 10.0
37 microvascular complications of diabetes 2 10.0
38 colitis 10.0
39 dementia 10.0
40 hypoxia 10.0
41 abducens palsy 10.0
42 cat eye syndrome 10.0
43 heterochromia iridis 10.0
44 hirschsprung disease 1 10.0
45 marcus gunn phenomenon 10.0
46 microphthalmia 10.0
47 refractive error 10.0
48 hypertropia 10.0
49 rare genetic deafness 10.0
50 isolated duane retraction syndrome 10.0

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 impaired ocular abduction 31 HP:0000634
2 esotropia 31 HP:0000565
3 duane anomaly 31 HP:0009921
4 impaired convergence 31 HP:0000619
5 impaired ocular adduction 31 HP:0000542
6 palpebral fissure narrowing on adduction 31 HP:0000661

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
impaired ocular abduction
impaired convergence
congenital strabismus
impaired ocular adduction
palpebral fissure narrowing on adduction
more

Clinical features from OMIM®:

126800 (Updated 20-May-2021)

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

Anatomical Context for Duane Retraction Syndrome 1

MalaCards organs/tissues related to Duane Retraction Syndrome 1:

40
Eye, Brain, Heart, Colon, Kidney, Lung, Skin

Publications for Duane Retraction Syndrome 1

Articles related to Duane Retraction Syndrome 1:

(show top 50) (show all 339)
# Title Authors PMID Year
1
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 25 6 61
27181683 2016
2
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 57 25 61
12395297 2002
3
No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS). 57 25
15386473 2004
4
Clinical diversity of hereditary Duane's retraction syndrome. 57 25
10711888 2000
5
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. 61 57
16283882 2005
6
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. 57 61
12454025 2002
7
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. 57 61
11409867 2001
8
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. 57 61
9781021 1998
9
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. 57 61
7849713 1994
10
Transposition procedures in Duane retraction syndrome. 61 25
30586616 2019
11
Anomalous Vertical Deviations in Attempted Abduction Occur in the Majority of Patients With Esotropic Duane Syndrome. 61 25
30098349 2018
12
CHN1 gene mutation analysis in patients with Duane retraction syndrome. 61 25
29031989 2017
13
Duane syndrome with prominent oculo-auricular phenomenon. 25 61
27965142 2017
14
Duane retraction syndrome: causes, effects and management strategies. 61 25
29133973 2017
15
The congenital cranial dysinnervation disorders. 25 61
25633065 2015
16
Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia. 25 61
25378878 2014
17
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. 61 25
24138051 2013
18
Expansion of the CHN1 strabismus phenotype. 61 25
21715346 2011
19
HOXA1 mutations are not a common cause of Duane anomaly. 57
16528738 2006
20
High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. 25 61
16678748 2006
21
Presence of the abducens nerve according to the type of Duane's retraction syndrome. 57
15629829 2005
22
Okihiro syndrome is caused by SALL4 mutations. 25 61
12393809 2002
23
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. 57
10942112 2000
24
Congenital anomalies in patients with Duane retraction syndrome and their relatives. 25 61
10773809 2000
25
Duane's syndrome. 57
10809934 2000
26
Localization of a gene for Duane retraction syndrome to chromosome 2q31. 57
10577917 1999
27
Exclusion of candidate genetic loci for Duane retraction syndrome. 57
10088756 1999
28
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. 57
4050857 1985
29
Electrophysiology of the retraction syndromes. 57
4834602 1974
30
Simultaneous occurrence of the Holt-Oram and the Duane syndromes. 57
5921340 1966
31
FAMILIAL CONGENITAL LATERAL RECTUS PALSY WITH RETRACTION (STILLING-DUANE-TUERK SYNDROME). 57
14105065 1964
32
A SERIES OF CASES OF CONGENITAL OPHTHALMOPLEGIA EXTERNA (NUCLEAR PARALYSIS) IN THE SAME FAMILY. 57
20765030 1910
33
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. 25
28346224 2017
34
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. 25
27977037 2017
35
Timing, rates and spectra of human germline mutation. 25
26656846 2016
36
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. 25
24001015 2015
37
Surgical management of strabismus in Duane retraction syndrome. 25
25727590 2015
38
Xq26.3 microdeletion in a male with Wildervanck Syndrome. 25
23373430 2014
39
A Gata3-Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing. 25
24327562 2013
40
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. 25
24206642 2013
41
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. 25
23687435 2013
42
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. 25
22258531 2012
43
Duane retraction syndrome: series of 441 cases. 25
22074356 2012
44
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 25
22387013 2012
45
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. 25
21555619 2011
46
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. 25
20801148 2010
47
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. 25
20535495 2010
48
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 25
20436469 2010
49
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. 25
20034095 2010
50
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. 25
19772954 2009

Variations for Duane Retraction Syndrome 1

ClinVar genetic disease variations for Duane Retraction Syndrome 1:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAFB NM_005461.5(MAFB):c.803del (p.Asn268fs) Deletion Pathogenic 224628 rs879255275 GRCh37: 20:39316688-39316688
GRCh38: 20:40688048-40688048
2 MAFB NM_005461.5(MAFB):c.440del (p.Gly147fs) Deletion Pathogenic 224626 rs879255276 GRCh37: 20:39317051-39317051
GRCh38: 20:40688411-40688411
3 MAFB NM_005461.4(MAFB):c.(?_391)_*(390_?)del Deletion Pathogenic 224629 GRCh37: 20:39316129-39317100
GRCh38: 20:40687489-40688460
4 MAFB NM_005461.5(MAFB):c.644del (p.Gln215fs) Deletion Pathogenic 224627 rs879255277 GRCh37: 20:39316847-39316847
GRCh38: 20:40688207-40688207
5 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
6 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
7 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
8 CHN1 NM_001822.7(CHN1):c.*214dup Duplication Uncertain significance 332459 rs574270883 GRCh37: 2:175664629-175664630
GRCh38: 2:174799901-174799902
9 CHN1 NM_001822.7(CHN1):c.628-14dup Duplication Uncertain significance 332465 rs375494218 GRCh37: 2:175689249-175689250
GRCh38: 2:174824521-174824522
10 CHN1 NM_001822.7(CHN1):c.*687_*691del Deletion Uncertain significance 332454 rs886055152 GRCh37: 2:175664153-175664157
GRCh38: 2:174799425-174799429
11 CHN1 NM_001822.7(CHN1):c.628-15_628-14del Microsatellite Likely benign 332466 rs547068631 GRCh37: 2:175689260-175689261
GRCh38: 2:174824532-174824533
12 CHN1 NM_001822.7(CHN1):c.*734_*737del Deletion Likely benign 332453 rs66480716 GRCh37: 2:175664107-175664110
GRCh38: 2:174799379-174799382
13 CHN1 NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) SNV not provided 585049 rs552090021 GRCh37: 2:175664902-175664902
GRCh38: 2:174800174-174800174

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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