MCID: DNR003
MIFTS: 39

Duane Retraction Syndrome 1 malady

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

Aliases & Classifications for Duane Retraction Syndrome 1

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Duane Retraction Syndrome 1:

Name: Duane Retraction Syndrome 1 51 24 12
Duane Retraction Syndrome 11 23 47 24 53 38 13 67
Stilling-Turk-Duane Syndrome 11 23 47 24 53
Duane Syndrome 23 47 24 53
Duane Anomaly, Isolated 23 24
 
Duane Anomaly 47 26
Drs 47 53
Type 1 Duane Retraction Syndrome 67
Duane's Syndrome 11
Durs 53

Characteristics:

Orphanet epidemiological data:

53
duane retraction syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
duane retraction syndrome 1:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
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:

OMIM51 126800
Disease Ontology11 DOID:12557
ICD1029 H50.81, R68.2
ICD9CM31 378.71
MeSH38 D004370
SNOMED-CT61 60318001
NCIt44 C84678
Orphanet53 ORPHA233
UMLS via Orphanet68 C0013261
ICD10 via Orphanet30 H50.8
MESH via Orphanet39 D004370

Summaries for Duane Retraction Syndrome 1

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NIH Rare Diseases:47 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 1, also known as duane retraction syndrome, is related to duane retraction syndrome 2 and isolated duane retraction syndrome, and has symptoms including strabismus, ophthalmoparesis and anteverted nares. An important gene associated with Duane Retraction Syndrome 1 is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and kidney, and related mouse phenotypes are respiratory system and behavior/neurological.

OMIM:51 Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the... (126800) more...

CDC:2 CDC office (physical presence)2 U.S. Assignees9 Locally Employed

GeneReviews for NBK1190

Related Diseases for Duane Retraction Syndrome 1

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Diseases in the Duane Retraction Syndrome 1 family:

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 399)
idRelated DiseaseScoreTop Affiliating Genes
1duane retraction syndrome 212.5
2isolated duane retraction syndrome12.4
3duane anomaly mental retardation11.9
4duane anomaly-myopathy-scoliosis syndrome11.9
5kniest dysplasia11.2
6duane syndrome type 211.2
7duane syndrome type 111.1
8duane-radial ray syndrome11.0
9neu-laxova syndrome110.8
10jalili syndrome10.8
11pendred syndrome10.7
12weaver syndrome10.7
13cohen syndrome10.7
14bloom syndrome10.7
15naxos disease10.7
16primrose syndrome10.7
17klatskin's tumor10.7
18autoimmune inner ear disease10.7
19ledderhose disease10.7
20persistent genital arousal disorder10.7
21superior semicircular canal dehiscence syndrome10.7
22uhl anomaly10.7
23nevus of ota10.7
24episodic pain syndrome, familial10.4CHN1, DURS1
25accommodative esotropia10.3CHN1, KIF21A
26cutaneous leishmaniasis10.2
27lymphoepithelioma-like carcinoma10.2CHN1, KIF21A
28total circumpapillary dystrophy of choroid10.2CHN1, ROBO3
29abducens nerve disease10.1CHN1, KIF21A
30endometriosis of rectovaginal septum and vagina10.1CHN1, KIF21A, ROBO3
31arthritis10.1
32monofixation syndrome10.0CHN1, KIF21A, TUBB3
33rheumatoid arthritis10.0
34thyroiditis10.0
35porencephaly9.9COL25A1, ECEL1, KIF21A
36lymphoma9.9
37disuse amblyopia9.9CHN1, TUBB3
38meckel syndrome 39.9CHN1, COL25A1, KIF21A, ROBO3
39leukemia9.9
40diabetes mellitus, insulin-dependent9.8
41hepatitis9.8
42lupus erythematosus9.8
43graves' disease9.8
44cervicitis9.8
45vaginal adenoma9.7CHN1, ECEL1, KIF21A, TUBB3
46systemic lupus erythematosus9.7
47leprosy9.7
48endotheliitis9.7
49tuberculosis9.7
50asthma9.7

Graphical network of the top 20 diseases related to Duane Retraction Syndrome 1:



Diseases related to duane retraction syndrome 1

Symptoms for Duane Retraction Syndrome 1

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Symptoms by clinical synopsis from OMIM:

126800

Clinical features from OMIM:

126800

Human phenotypes related to Duane Retraction Syndrome 1:

 63 53 (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
2 ophthalmoparesis63 hallmark (90%) HP:0000597
3 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
4 deeply set eye63 53 typical (50%) Frequent (79-30%) HP:0000490
5 blepharophimosis63 53 typical (50%) Frequent (79-30%) HP:0000581
6 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
7 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
8 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
9 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
10 wide nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000431
11 short neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000470
12 visual impairment63 occasional (7.5%) HP:0000505
13 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
14 chorioretinal coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000567
15 abnormality of the pupil63 53 occasional (7.5%) Occasional (29-5%) HP:0000615
16 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
17 optic atrophy63 occasional (7.5%) HP:0000648
18 heterochromia iridis63 occasional (7.5%) HP:0001100
19 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
20 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
21 talipes63 occasional (7.5%) HP:0001883
22 abnormal form of the vertebral bodies63 53 occasional (7.5%) Occasional (29-5%) HP:0003312
23 aplasia/hypoplasia of the radius63 occasional (7.5%) HP:0006501
24 aplasia/hypoplasia of the iris63 occasional (7.5%) HP:0008053
25 external ear malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0008572
26 aplasia/hypoplasia of the thumb63 53 occasional (7.5%) Occasional (29-5%) HP:0009601
27 abnormal localization of kidney63 occasional (7.5%) HP:0100542
28 cognitive impairment63 occasional (7.5%) HP:0100543
29 congenital strabismus63 HP:0000487
30 impaired ocular adduction63 HP:0000542
31 impaired convergence63 HP:0000619
32 impaired ocular abduction63 HP:0000634
33 palpebral fissure narrowing on adduction63 HP:0000661
34 duane anomaly63 HP:0009921
35 ectopic kidney53 Occasional (29-5%)
36 everted lower lip vermilion53 Occasional (29-5%)
37 facial asymmetry53 Occasional (29-5%)
38 preauricular skin tag53 Occasional (29-5%)
39 stenosis of the external auditory canal53 Occasional (29-5%)
40 sensorineural hearing impairment53 Frequent (79-30%)
41 webbed neck53 Occasional (29-5%)
42 microcornea53 Occasional (29-5%)
43 abnormality of eye movement53 Very frequent (99-80%)
44 aniridia53 Occasional (29-5%)
45 iris coloboma53 Occasional (29-5%)
46 blepharospasm53 Occasional (29-5%)
47 amblyopia53 Occasional (29-5%)
48 hypopigmented skin patches53 Occasional (29-5%)
49 preaxial hand polydactyly53 Occasional (29-5%)
50 triphalangeal thumb53 Occasional (29-5%)
51 global developmental delay53 Occasional (29-5%)
52 plagiocephaly53 Occasional (29-5%)
53 talipes equinovarus53 Occasional (29-5%)
54 low posterior hairline53 Frequent (79-30%)
55 malformation of the heart and great vessels53 Occasional (29-5%)
56 hypoplasia of the radius53 Occasional (29-5%)
57 skeletal muscle atrophy53 Occasional (29-5%)
58 spina bifida occulta53 Occasional (29-5%)
59 absent radius53 Occasional (29-5%)
60 abnormal vertebral segmentation and fusion53 Frequent (79-30%)
61 irregular hyperpigmentation53 Occasional (29-5%)
62 optic disc hypoplasia53 Occasional (29-5%)
63 central heterochromia53 Occasional (29-5%)
64 hypoplastic iris stroma53 Occasional (29-5%)
65 patchy hypopigmentation of hair53 Occasional (29-5%)
66 narrow internal auditory canal53 Occasional (29-5%)
67 oculomotor nerve palsy53 Very frequent (99-80%)
68 camptodactyly53 Occasional (29-5%)
69 anorectal anomaly53 Occasional (29-5%)
70 short palpebral fissure53 Very frequent (99-80%)

UMLS symptoms related to Duane Retraction Syndrome 1:


congenital visual acuity reduced, ophthalmoparesis, ophthalmoplegia

Drugs & Therapeutics for Duane Retraction Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Duane Retraction Syndrome 1


Cochrane evidence based reviews: duane retraction syndrome

Genetic Tests for Duane Retraction Syndrome 1

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Genetic tests related to Duane Retraction Syndrome 1:

id Genetic test Affiliating Genes
1 Duane's Syndrome26
2 Duane Anomaly26
3 Duane Syndrome24 CHN1
4 Duane Retraction Syndrome 124

Anatomical Context for Duane Retraction Syndrome 1

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MalaCards organs/tissues related to Duane Retraction Syndrome 1:

35
Eye, Skin, Kidney, Skeletal muscle, Heart

Animal Models for Duane Retraction Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Duane Retraction Syndrome 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.5COL25A1, ECEL1, FOXF2, HOXA1, MAFB, ROBO3
2MP:00053867.4CHN1, CHRNB3, COL25A1, FGF17, FOXF2, HOXA1
3MP:00036317.0CHN1, COL25A1, ECEL1, FGF17, FOXF2, HOXA1

Publications for Duane Retraction Syndrome 1

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Variations for Duane Retraction Syndrome 1

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Expression for genes affiliated with Duane Retraction Syndrome 1

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Search GEO for disease gene expression data for Duane Retraction Syndrome 1.

Pathways for genes affiliated with Duane Retraction Syndrome 1

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GO Terms for genes affiliated with Duane Retraction Syndrome 1

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Sources for Duane Retraction Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet