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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Duane Retraction Syndrome 1:

Name: Duane Retraction Syndrome 1 52 24 12
Duane Retraction Syndrome 11 23 48 24 54 39 13 68
Stilling-Turk-Duane Syndrome 11 23 48 24 54
Duane Syndrome 23 48 24 54
Duane Anomaly, Isolated 23 24
 
Duane Anomaly 48 27
Drs 48 54
Type 1 Duane Retraction Syndrome 68
Duane's Syndrome 11
Durs 54

Characteristics:

Orphanet epidemiological data:

54
duane retraction syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
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:

OMIM52 126800
Disease Ontology11 DOID:12557
ICD1030 H50.81, R68.2
ICD9CM32 378.71
MeSH39 D004370
SNOMED-CT62 60318001
NCIt45 C84678
Orphanet54 ORPHA233
UMLS via Orphanet69 C0013261
ICD10 via Orphanet31 H50.8
MESH via Orphanet40 D004370

Summaries for Duane Retraction Syndrome 1

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NIH Rare Diseases:48 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:52 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 & Phenotypes 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:

 64 54 (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
2 ophthalmoparesis64 hallmark (90%) HP:0000597
3 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
4 deeply set eye64 54 typical (50%) Frequent (79-30%) HP:0000490
5 blepharophimosis64 54 typical (50%) Frequent (79-30%) HP:0000581
6 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
7 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
8 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
9 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
10 wide nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000431
11 short neck64 54 occasional (7.5%) Occasional (29-5%) HP:0000470
12 visual impairment64 occasional (7.5%) HP:0000505
13 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
14 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
15 abnormality of the pupil64 54 occasional (7.5%) Occasional (29-5%) HP:0000615
16 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
17 optic atrophy64 occasional (7.5%) HP:0000648
18 heterochromia iridis64 occasional (7.5%) HP:0001100
19 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
20 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
21 talipes64 occasional (7.5%) HP:0001883
22 abnormal form of the vertebral bodies64 54 occasional (7.5%) Occasional (29-5%) HP:0003312
23 aplasia/hypoplasia of the radius64 occasional (7.5%) HP:0006501
24 aplasia/hypoplasia of the iris64 occasional (7.5%) HP:0008053
25 external ear malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0008572
26 aplasia/hypoplasia of the thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0009601
27 abnormal localization of kidney64 occasional (7.5%) HP:0100542
28 cognitive impairment64 occasional (7.5%) HP:0100543
29 congenital strabismus64 HP:0000487
30 impaired ocular adduction64 HP:0000542
31 impaired convergence64 HP:0000619
32 impaired ocular abduction64 HP:0000634
33 palpebral fissure narrowing on adduction64 HP:0000661
34 duane anomaly64 HP:0009921
35 ectopic kidney54 Occasional (29-5%)
36 everted lower lip vermilion54 Occasional (29-5%)
37 facial asymmetry54 Occasional (29-5%)
38 preauricular skin tag54 Occasional (29-5%)
39 stenosis of the external auditory canal54 Occasional (29-5%)
40 sensorineural hearing impairment54 Frequent (79-30%)
41 webbed neck54 Occasional (29-5%)
42 microcornea54 Occasional (29-5%)
43 abnormality of eye movement54 Very frequent (99-80%)
44 aniridia54 Occasional (29-5%)
45 iris coloboma54 Occasional (29-5%)
46 blepharospasm54 Occasional (29-5%)
47 amblyopia54 Occasional (29-5%)
48 hypopigmented skin patches54 Occasional (29-5%)
49 preaxial hand polydactyly54 Occasional (29-5%)
50 triphalangeal thumb54 Occasional (29-5%)
51 global developmental delay54 Occasional (29-5%)
52 plagiocephaly54 Occasional (29-5%)
53 talipes equinovarus54 Occasional (29-5%)
54 low posterior hairline54 Frequent (79-30%)
55 malformation of the heart and great vessels54 Occasional (29-5%)
56 hypoplasia of the radius54 Occasional (29-5%)
57 skeletal muscle atrophy54 Occasional (29-5%)
58 spina bifida occulta54 Occasional (29-5%)
59 absent radius54 Occasional (29-5%)
60 abnormal vertebral segmentation and fusion54 Frequent (79-30%)
61 irregular hyperpigmentation54 Occasional (29-5%)
62 optic disc hypoplasia54 Occasional (29-5%)
63 central heterochromia54 Occasional (29-5%)
64 hypoplastic iris stroma54 Occasional (29-5%)
65 patchy hypopigmentation of hair54 Occasional (29-5%)
66 narrow internal auditory canal54 Occasional (29-5%)
67 oculomotor nerve palsy54 Very frequent (99-80%)
68 camptodactyly54 Occasional (29-5%)
69 anorectal anomaly54 Occasional (29-5%)
70 short palpebral fissure54 Very frequent (99-80%)

UMLS symptoms related to Duane Retraction Syndrome 1:


congenital visual acuity reduced, ophthalmoparesis, ophthalmoplegia

MGI Mouse Phenotypes related to Duane Retraction Syndrome 1 according to GeneCards Suite gene sharing:

41
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

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 Syndrome27
2 Duane Anomaly27
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:

36
Eye, Skin, Kidney, Skeletal muscle, Heart

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet