MCID: DNR001
MIFTS: 39

Duane Retraction Syndrome malady

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

Aliases & Classifications for Duane Retraction Syndrome

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 10 21 45 22 12 51 36 65
Stilling-Turk-Duane Syndrome 10 21 45 22 51
Duane Syndrome 21 45 22 51
Duane Anomaly, Isolated 21 22
 
Drs 45 51
Duane's Syndrome 10
Duane Anomaly 45
Durs 51

Characteristics:

Orphanet epidemiological data:

51
duane retraction syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:12557
ICD1027 H50.81
ICD9CM29 378.71
MeSH36 D004370
NCIt42 C84678
SNOMED-CT59 60318001
Orphanet51 233
UMLS via Orphanet66 C0013261
ICD10 via Orphanet28 H50.8
MESH via Orphanet37 D004370
UMLS65 C0013261

Summaries for Duane Retraction Syndrome

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NIH Rare Diseases:45 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 duane retraction syndrome 2 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 endothelial, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

GeneReviews summary for NBK1190

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:

 51 (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 28)
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 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
23 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
24 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
25 external ear malformation occasional (7.5%) HP:0008572
26 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
27 abnormal localization of kidney occasional (7.5%) HP:0100542
28 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Duane Retraction Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Duane Retraction Syndrome


Cochrane evidence based reviews: 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:

33
Eye, Kidney, Endothelial, T cells, Skin, Tongue, Brain

Animal Models for Duane Retraction Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6CA8, HOXA1, SALL4
2MP:00053867.6CA8, CHN1, CHRNB3, HOXA1, SALL4

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Decreased Expression of SETD2 Predicts Unfavorable Prognosis in Patients With Nonmetastatic Clear-Cell Renal Cell Carcinoma. (26559293)
2015
2
F-18 FDG hypermetabolism in mass-forming focal pancreatitis and old hepatic schistosomiasis with granulomatous inflammation misdiagnosed by PET/CT imaging. (25337288)
2014
3
Suppression of GNAI2 message in ovarian cancer. (24423449)
2014
4
Clinical characteristics and awareness of skin cancer in Hispanic patients. (24050296)
2013
5
Periatrial epicardial fat is associated with markers of endothelial dysfunction in patients with atrial fibrillation. (24143210)
2013
6
A circadian clock entrained by melatonin is ticking in the rat fetal adrenal. (21363938)
2011
7
Monocyte chemotactic protein (MCP3) promoter polymorphism is associated with atopic asthma in the Indian population. (21388664)
2011
8
Parathyroid-hormone-related protein-mediated hypercalcemia in benign congenital mesoblastic nephroma. (21161280)
2011
9
Survival advantage of hemodialysis relative to peritoneal dialysis in patients with end-stage renal disease and congestive heart failure. (21775972)
2011
10
Enchondroma in a running athlete with persistent mid-thigh pain. (20118530)
2010
11
Traumatic facial nerve neuroma with facial palsy presenting in infancy. (20479695)
2010
12
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome. (19341173)
2009
13
CtBP1/BARS is an activator of phospholipase D1 necessary for agonist-induced macropinocytosis. (19322195)
2009
14
Coeliac plexus block in the management of chronic abdominal pain due to severe diabetic gastroparesis. (22121392)
2009
15
Loss of the calmodulin-dependent inhibition of the RyR1 calcium release channel upon oxidation of methionines in calmodulin. (18076146)
2008
16
Functional flexibility of human cyclin-dependent kinase-2 and its evolutionary conservation. (18042686)
2008
17
Postoperative temporary neurological deficits in adults with moyamoya disease. (17996267)
2008
18
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
19
Association of lipoprotein-associated phospholipase A2 with coronary calcification among American and Japanese men. (18094516)
2007
20
Estimation of the glomerular filtration rate from serum creatinine and cystatin C with regard to therapeutic digoxin monitoring. (17698593)
2007
21
Resveratrol ameliorates experimental autoimmune myocarditis. (17322642)
2007
22
Molecular diversity of HLA-A*19 group of alleles in south Indian population. (16611249)
2006
23
High-resolution CT findings of 77 patients with untreated pulmonary paracoccidioidomycosis. (17056912)
2006
24
"Pseudo-pseudochalazion": giant chalazion mimicking eyelid neoplasm. (16234710)
2005
25
A clinical study of 674 patients with oral lichen planus in China. (16091113)
2005
26
A novel T cell receptor transgenic animal model of seborrheic dermatitis-like skin disease. (15654969)
2005
27
Low-dose cyclosporine with mycophenolate mofetil induces similar calcineurin activity and cytokine inhibition as does standard-dose cyclosporine in stable renal allografts. (15548982)
2004
28
Vitamin D enhances caspase-dependent and independent TNF-induced breast cancer cell death: the role of reactive oxygen species. (15033766)
2003
29
The precancer risk of betel quid chewing, tobacco use and alcohol consumption in oral leukoplakia and oral submucous fibrosis in southern Taiwan. (12569378)
2003
30
Adrenalectomy stimulates hypothalamic proopiomelanocortin expression but does not correct diet-induced obesity. (12795810)
2003
31
Cross-reactivity and T-cell receptor antagonism of myelin basic protein-reactive T cells is modulated by the activation state of the antigen presenting cell. (12473239)
2002
32
Modulation of induction properties of glucocorticoid receptor-agonist and -antagonist complexes by coactivators involves binding to receptors but is independent of ability of coactivators to augment transactivation. (12376547)
2002
33
Predictors of acute complications in children with type 1 diabetes. (12020331)
2002
34
Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1. (12473779)
2002
35
A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. (11543630)
2001
36
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
37
Detection of telomerase activity in human carcinomas using a trap-ELISA method: correlation with hTR and hTERT expression. (10675498)
2000
38
Influence of the M235T polymorphism of human angiotensinogen (AGT) on plasma AGT and renin concentrations after ethinylestradiol administration. (11095476)
2000
39
Association of primary biliary cirrhosis with vitamin D receptor BsmI genotype polymorphism in a Hungarian population. (10877221)
2000
40
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease. (9486414)
1998
41
Signal transduction pathways in the mitogenic response to G protein-coupled neuropeptide receptor agonists. (10092204)
1998
42
Effects of thrombin on steroid-modulated cultured endometrial stromal cell fibrinolytic potential. (8550736)
1996
43
Effects of hepatocellular mitogens on cytokine-induced nitric oxide synthesis in human hepatocytes. (8830795)
1996
44
The time interval between lethal infant shaking and onset of symptoms. A review of the shaken baby syndrome literature. (7572873)
1995
45
Human RPB5, a subunit shared by eukaryotic nuclear RNA polymerases, binds human hepatitis B virus X protein and may play a role in X transactivation. (7828586)
1995
46
Solitary conjunctival extramedullary plasmacytoma. (2350120)
1990
47
Molecular cloning of a tissue-specific protein kinase (C gamma) from human testis -- representing a third isoform for the catalytic subunit of cAMP-dependent protein kinase. (2342480)
1990
48
In vitro evaluation of estrogenic, estrogen antagonistic and progestagenic effects of a steroidal drug (Org OD-14) and its metabolites on human endometrium. (2355729)
1990
49
Blue rubber bleb nevus syndrome. (315078)
1979
50
Glossitis of military working dogs in Vietnam: experimental production of tongue lesions. (4214371)
1974

Variations for Duane Retraction Syndrome

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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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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
1signal transductionGO:00071659.2CHN1, CHRNB3, SALL4

Sources for Duane Retraction Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet