MCID: DNR001
MIFTS: 44

Duane Retraction Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Duane Retraction Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 60UMLS, 38NCIt, 33MeSH, 27ICD9CM, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Duane Retraction Syndrome, Aliases & Descriptions:

Name: Duane Retraction Syndrome 9 19 41 11 47 60
Stilling-Turk-Duane Syndrome 9 19 47
Duane Syndrome 19 41 47
Drs 41 47
Type 1 Duane Retraction Syndrome 60
 
Duane Anomaly, Isolated 19
Duane's Syndrome 9
Duane Anomaly 41
Durs 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
duane retraction syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:12557
NCIt38 C84678
ICD9CM27 378.71
SNOMED-CT55 60318001
Orphanet47 233
MESH via Orphanet34 D004370
ICD10 via Orphanet26 H50.8
UMLS via Orphanet61 C0013261

Summaries for Duane Retraction Syndrome

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NIH Rare Diseases:41 Duane syndrome is 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.  last updated: 3/26/2012

MalaCards based summary: Duane Retraction Syndrome, also known as stilling-turk-duane syndrome, is related to isolated duane retraction syndrome and duane retraction syndrome 1, and has symptoms including strabismus, ophthalmoparesis and anteverted nares. An important gene associated with Duane Retraction Syndrome is CHN1 (chimerin 1). Affiliated tissues include eye, kidney and heart, and related mouse phenotypes are craniofacial and skeleton.

GeneReviews summary for duane

Related Diseases for Duane Retraction Syndrome

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



Diseases related to duane retraction syndrome

Symptoms for Duane Retraction Syndrome

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Symptoms:

 47 (show all 33)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • autosomal dominant inheritance
  • deepset eyes/enophthalmos
  • blepharophimosis/short palpebral fissures
  • anteverted nares/nostrils
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • aniridia/iris hypoplasia
  • heterochromia/mixed colouring of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • nystagmus
  • ptosis
  • broad nasal root
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external ear anomalies
  • hearing loss/hypoacusia/deafness
  • short neck
  • abnormal vertebral size/shape
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • short hand/brachydactyly
  • thumb hypoplasia/aplasia/absence
  • talipes-varus/metatarsal varus
  • congenital cardiac anomaly/malformation/cardiopathy
  • ectopic/horseshoe/fused kidneys
  • dystonia/torticollis/writer's cramp/blepharospasms
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Duane Retraction Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 ophthalmoparesis hallmark (90%) HP:0000597
3 anteverted nares typical (50%) HP:0000463
4 deeply set eye typical (50%) HP:0000490
5 blepharophimosis typical (50%) HP:0000581
6 cleft palate occasional (7.5%) HP:0000175
7 microcephaly occasional (7.5%) HP:0000252
8 micrognathia occasional (7.5%) HP:0000347
9 hearing impairment occasional (7.5%) HP:0000365
10 wide nasal bridge occasional (7.5%) HP:0000431
11 short neck occasional (7.5%) HP:0000470
12 visual impairment occasional (7.5%) HP:0000505
13 ptosis occasional (7.5%) HP:0000508
14 chorioretinal coloboma occasional (7.5%) HP:0000567
15 abnormality of the pupil occasional (7.5%) HP:0000615
16 nystagmus occasional (7.5%) HP:0000639
17 optic atrophy occasional (7.5%) HP:0000648
18 heterochromia iridis occasional (7.5%) HP:0001100
19 brachydactyly syndrome occasional (7.5%) HP:0001156
20 seizures occasional (7.5%) HP:0001250
21 talipes occasional (7.5%) HP:0001883
22 malformation of the heart and great vessels occasional (7.5%) HP:0002564
23 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
24 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
25 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
26 external ear malformation occasional (7.5%) HP:0008572
27 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
28 abnormal localization of kidney occasional (7.5%) HP:0100542
29 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Duane Retraction Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Duane Retraction Syndrome

Genetic Tests for Duane Retraction Syndrome

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Anatomical Context for Duane Retraction Syndrome

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MalaCards organs/tissues related to Duane Retraction Syndrome:

31
Eye, Kidney, Heart, Colon

Animal Models for Duane Retraction Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2FOXF2, FOXQ1, SALL4, HOXD3
2MP:00053908.0HOXD3, SALL4, FOXQ1, FOXF2
3MP:00036318.0FOXF2, FOXQ1, SALL4, CHN1, HOXD3

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Surgical management of strabismus in Duane retraction syndrome. (25727590)
2015
2
Abducens nerve in a patient with Duane retraction syndrome. (24767241)
2014
3
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. (25230971)
2014
4
Duane retraction syndrome: A rare cause of strabismus. (25403117)
2014
5
Does infantile abduction deficit indicate duane retraction syndrome until disproven? (24453144)
2014
6
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24618490)
2014
7
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. (24865192)
2014
8
Duane retraction syndrome in a Nigerian child. (25722769)
2014
9
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. (23672883)
2013
10
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. (23477770)
2013
11
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. (24413823)
2013
12
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. (24416505)
2013
13
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
14
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. (24212222)
2013
15
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. (24206642)
2013
16
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. (22258531)
2012
17
Duane retraction syndrome: series of 441 cases. (22074356)
2012
18
Duane retraction syndrome mimicking orbital fracture. (21530027)
2011
19
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. (21405998)
2011
20
Risk factors for consecutive exotropia after vertical rectus transposition for esotropic Duane retraction syndrome. (21907111)
2011
21
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. (21555619)
2011
22
Simultaneous occurrence of duane retraction syndrome with marfan syndrome. (22606474)
2011
23
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome. (21850174)
2011
24
Case report: Duane Retraction Syndrome associated with hand anomaly. (20923409)
2010
25
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. (20801148)
2010
26
Clinical findings and surgical results of Duane retraction syndrome. (19791717)
2010
27
MR imaging of Duane retraction syndrome. (19002447)
2009
28
Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. (19172504)
2009
29
Duane retraction syndrome: Type II with severe abducens nerve hypoplasia on magnetic resonance imaging. (18314074)
2008
30
Auditory brainstem response and otoacoustic emissions in Duane retraction syndrome. (18479758)
2008
31
Binocular coordination of saccades in Duane Retraction Syndrome. (18606179)
2008
32
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
33
Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. (17126050)
2007
34
Duane retraction syndrome on the Arabian Peninsula. (18058357)
2007
35
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
36
Association of Duane retraction syndrome and Brown syndrome. (16121554)
2005
37
Management of Duane retraction syndrome. (15724893)
2005
38
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. (12868480)
2003
39
Right-sided Duane retraction syndrome associated with multiple malformations. (14521536)
2003
40
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. (12506285)
2002
41
Congenital anomalies in patients with Duane retraction syndrome and their relatives. (10773809)
2000
42
Duane retraction syndrome, a new feature in 22q11 deletion syndrome? (10826628)
2000
43
Localization of a gene for Duane retraction syndrome to chromosome 2q31. (10577917)
1999
44
Surgical management of Duane retraction syndrome. (7752038)
1995
45
Duane retraction syndrome associated with Rubinstein-Taybi syndrome. (8749054)
1995
46
Duane retraction syndrome associated with Chiari I malformation. (8068166)
1994
47
Surgery on the normal eye in Duane retraction syndrome. (7931950)
1994
48
Association of Duane retraction syndrome with craniofacial malformations. (3877101)
1985
49
Goldenhar's syndrome with unilateral Duane retraction syndrome and "butterfly" vertebra. (3841867)
1985
50
Segmental dilatation of the colon and the Stilling-Turk-Duane retraction syndrome. (4036100)
1985

Variations for Duane Retraction Syndrome

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Clinvar genetic disease variations for Duane Retraction Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CHN1NM_001822.5(CHN1): c.60A> T (p.Leu20Phe)single nucleotide variantPathogenicrs121912792GRCh37Chr 2, 175809670: 175809670
2CHN1NM_001822.5(CHN1): c.378T> G (p.Ile126Met)single nucleotide variantPathogenicrs121912793GRCh37Chr 2, 175742739: 175742739
3CHN1NM_001822.5(CHN1): c.427T> C (p.Tyr143His)single nucleotide variantPathogenicrs121912794GRCh37Chr 2, 175742690: 175742690
4CHN1NM_001822.5(CHN1): c.668C> T (p.Ala223Val)single nucleotide variantPathogenicrs121912795GRCh37Chr 2, 175689206: 175689206
5CHN1NM_001822.5(CHN1): c.682G> A (p.Gly228Ser)single nucleotide variantPathogenicrs121912796GRCh37Chr 2, 175689192: 175689192
6CHN1NM_001822.5(CHN1): c.755C> A (p.Pro252Gln)single nucleotide variantPathogenicrs121912797GRCh37Chr 2, 175677168: 175677168
7CHN1NM_001822.5(CHN1): c.937G> A (p.Glu313Lys)single nucleotide variantPathogenicrs121912798GRCh37Chr 2, 175676266: 175676266
8CHN1NM_001822.5(CHN1): c.422C> T (p.Pro141Leu)single nucleotide variantPathogenicrs387906599GRCh37Chr 2, 175742695: 175742695
9CHN1NM_001822.5(CHN1): c.754C> T (p.Pro252Ser)single nucleotide variantPathogenicrs387906600GRCh37Chr 2, 175677169: 175677169

Expression for genes affiliated with Duane Retraction Syndrome

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

Pathways for genes affiliated with Duane Retraction Syndrome

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Compounds for genes affiliated with Duane Retraction Syndrome

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GO Terms for genes affiliated with Duane Retraction Syndrome

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Biological processes related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:00001228.9FOXQ1, SALL4, DUSP22

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435658.7FOXF2, FOXQ1, HOXD3

Products for genes affiliated with Duane Retraction Syndrome

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Sources for Duane Retraction Syndrome

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3CDC
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet