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DRS
MCID: DNR001
MIFTS: 49

Duane Retraction Syndrome (DRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Duane Retraction Syndrome

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MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 12 59 37 44 15 40 73
Duane's Syndrome 12 29 6
Stilling-Turk-Duane Syndrome 12 59
Duane Syndrome 59
Durs 59
Drs 59

Characteristics:

Orphanet epidemiological data:

59
duane retraction syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Duane Retraction Syndrome

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MalaCards based summary : Duane Retraction Syndrome, also known as duane's syndrome, is related to duane retraction syndrome 2 and duane retraction syndrome 1, and has symptoms including ophthalmoparesis and ophthalmoplegia. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotypes are short neck and ptosis

Sources

Related Diseases for Duane Retraction Syndrome

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Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 1 Duane Retraction Syndrome 2

Diseases related to Duane Retraction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 792)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 34.4 CHN1 MAFB
2 duane retraction syndrome 1 34.3 DURS1 MAFB
3 duane syndrome type 2 32.5 CHN1 MAFB
4 duane-radial ray syndrome 32.1 CHN1 SALL4
5 strabismus 32.0 CHN1 KIF21A TUBB3
6 enophthalmos 29.8 CHN1 TNNI3K
7 esotropia 29.7 CHN1 TUBB3
8 exotropia 29.6 CHN1 KIF21A TNNI3K TUBB3
9 ptosis 29.3 COL25A1 FOXL2 KIF21A TUBB3
10 amblyopia 29.2 CHN1 FOXL2 MAFB TUBB3
11 congenital ptosis 28.8 CHN1 COL25A1 KIF21A TNNI3K TUBB3
12 isolated duane retraction syndrome 12.8
13 duane retraction syndrome 3 with or without deafness 12.7
14 duane syndrome type 1 11.4
15 kniest dysplasia 11.4
16 wildervanck syndrome 11.4
17 neu-laxova syndrome 1 11.3
18 blepharophimosis, ptosis, and epicanthus inversus 11.3
19 duane syndrome type 3 11.3
20 oculopharyngodistal myopathy 11.2
21 proteus syndrome 11.0
22 jalili syndrome 11.0
23 mowat-wilson syndrome 11.0
24 lrba deficiency 11.0
25 angelman syndrome 10.9
26 arrhythmogenic right ventricular dysplasia, familial, 1 10.9
27 thanatophoric dysplasia, type ii 10.9
28 bietti crystalline corneoretinal dystrophy 10.9
29 bloom syndrome 10.9
30 cohen syndrome 10.9
31 apparent mineralocorticoid excess 10.9
32 primrose syndrome 10.9
33 pendred syndrome 10.9
34 weaver syndrome 10.9
35 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.9
36 brody myopathy 10.9
37 naxos disease 10.9
38 wiedemann-steiner syndrome 10.9
39 caspase 8 deficiency 10.9
40 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.9
41 leprosy 1 10.9
42 bombay phenotype 10.9
43 kohler's disease 10.9
44 blackwater fever 10.9
45 alien hand syndrome 10.9
46 autoimmune inner ear disease 10.9
47 blepharophimosis intellectual disability syndromes 10.9
48 ledderhose disease 10.9
49 nevus of ota 10.9
50 diabetes mellitus, insulin-dependent 10.5

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



Diseases related to Duane Retraction Syndrome
Sources

Symptoms & Phenotypes for Duane Retraction Syndrome

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Human phenotypes related to Duane Retraction Syndrome:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
6 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
9 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
10 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
11 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
12 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
13 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
14 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
15 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
16 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
17 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
18 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
19 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
20 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
22 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
23 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
24 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
25 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
26 anorectal anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012732
27 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
28 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
29 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
30 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
31 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
32 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
33 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
34 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
35 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
36 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
37 stenosis of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000402
38 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
39 narrow internal auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011386
40 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
41 hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0002984
42 abnormal vertebral segmentation and fusion 59 32 frequent (33%) Frequent (79-30%) HP:0005640
43 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526
44 central heterochromia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007818
45 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
46 absent radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0003974
47 oculomotor nerve palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012246
48 optic disc hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007766
49 hypoplastic iris stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007990
50 patchy hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0011365

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoparesis, ophthalmoplegia

MGI Mouse Phenotypes related to Duane Retraction Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CA8 CHN1 CHRNB3 COL25A1 EPHA4 HOXA1
2 nervous system MP:0003631 9.23 CA8 CHN1 COL25A1 EPHA4 HOXA1 MAFB
Sources

Drugs & Therapeutics for Duane Retraction Syndrome

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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

Cochrane evidence based reviews: duane retraction syndrome

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Genetic Tests for Duane Retraction Syndrome

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Genetic tests related to Duane Retraction Syndrome:

# Genetic test Affiliating Genes
1 Duane's Syndrome 29
Sources

Anatomical Context for Duane Retraction Syndrome

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MalaCards organs/tissues related to Duane Retraction Syndrome:

41
Eye, Skin, Heart, Kidney, Lung, Thyroid, Skeletal Muscle
Sources

Publications for Duane Retraction Syndrome

About this section

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 163)
# Title Authors Year
1
The Efficacy of Bilateral Lateral Rectus Recession According to Secondary Deviation Measurements in Unilateral Exotropic Duane Retraction Syndrome. ( 28991345 )
2018
2
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. ( 29779709 )
2018
3
Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy. ( 29299740 )
2018
4
Absent cochlear and abducens nerves in a patient with Duane retraction syndrome. ( 30377846 )
2018
5
Chromosomal microarray analysis of patients with Duane retraction syndrome. ( 30478753 )
2018
6
Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. ( 30516080 )
2018
7
Adhesion after Y-split procedure can affect its mechanism for treating overshoots in Duane's syndrome. ( 30382338 )
2018
8
Y-splitting with recession of lateral rectus versus lateral rectus recession in correcting upshoot in Duane retraction syndrome. ( 29018752 )
2017
9
Anomalous Lateral Rectus Muscle Band in a Case of Duane Retraction Syndrome. ( 29135308 )
2017
10
CHN1 gene mutation analysis in patients with Duane retraction syndrome. ( 29031989 )
2017
11
Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report. ( 28526001 )
2017
12
Duane retraction syndrome: causes, effects and management strategies. ( 29133973 )
2017
13
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
14
Surgical treatment of Duane retraction syndrome. ( 29270470 )
2017
15
Mutant I+2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. ( 28346224 )
2017
16
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
17
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
18
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
19
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
20
The genetics of nonsyndromic bilateral Duane retraction syndrome. ( 27658539 )
2016
21
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
2016
22
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. ( 26833229 )
2016
23
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
24
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
25
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
26
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
27
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
28
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
29
Reply: Vertical rectus transposition in Duane's syndrome: does co-contraction worsen? ( 25657042 )
2015
30
Vertical rectus transposition in Duane's syndrome: does co-contraction worsen? ( 25657043 )
2015
31
Pseudo-Monocular Nystagmus Associated with Duane's Syndrome: Report of Two Cases. ( 26559871 )
2015
32
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
33
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
34
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
35
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
36
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
37
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
38
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
39
Narcolepsy Associated with Duane's Syndrome. ( 24453503 )
2014
40
Duane's syndrome: surgical outcome and non ophthalmologic associations. ( 25671939 )
2014
41
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
42
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
43
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
44
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
45
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
46
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
47
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
48
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
49
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
50
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
Sources

Variations for Duane Retraction Syndrome

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ClinVar genetic disease variations for Duane Retraction Syndrome:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh38 Chromosome 2, 174824533: 174824533
2 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh37 Chromosome 2, 175689261: 175689261
3 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh38 Chromosome 2, 175005183: 175005183
4 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh37 Chromosome 2, 175869911: 175869911
5 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh38 Chromosome 2, 174799439: 174799439
6 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh37 Chromosome 2, 175664167: 175664167
7 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh38 Chromosome 2, 174799473: 174799473
8 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh37 Chromosome 2, 175664201: 175664201
9 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh38 Chromosome 2, 174799508: 174799508
10 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh37 Chromosome 2, 175664236: 175664236
11 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh38 Chromosome 2, 174799902: 174799902
12 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh37 Chromosome 2, 175664630: 175664630
13 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh38 Chromosome 2, 174799962: 174799962
14 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh37 Chromosome 2, 175664690: 175664690
15 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh38 Chromosome 2, 174800177: 174800177
16 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh37 Chromosome 2, 175664905: 175664905
17 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh38 Chromosome 2, 174812294: 174812294
18 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh37 Chromosome 2, 175677022: 175677022
19 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh38 Chromosome 2, 174824522: 174824522
20 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh37 Chromosome 2, 175689250: 175689250
21 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh37 Chromosome 2, 175869938: 175869938
22 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh38 Chromosome 2, 175005210: 175005210
23 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh38 Chromosome 2, 174799425: 174799429
24 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh37 Chromosome 2, 175664153: 175664157
25 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh38 Chromosome 2, 174800088: 174800088
26 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh37 Chromosome 2, 175664816: 175664816
27 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh38 Chromosome 2, 174811505: 174811505
28 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh37 Chromosome 2, 175676233: 175676233
29 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh38 Chromosome 2, 174824532: 174824533
30 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh37 Chromosome 2, 175689260: 175689261
31 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh38 Chromosome 2, 174877889: 174877889
32 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh37 Chromosome 2, 175742617: 175742617
33 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh38 Chromosome 2, 175004948: 175004948
34 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh37 Chromosome 2, 175869676: 175869676
35 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh38 Chromosome 2, 175004980: 175004980
36 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh37 Chromosome 2, 175869708: 175869708
37 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh38 Chromosome 2, 174799448: 174799448
38 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh37 Chromosome 2, 175664176: 175664176
39 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh38 Chromosome 2, 174877957: 174877957
40 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh37 Chromosome 2, 175742685: 175742685
41 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh38 Chromosome 2, 175004986: 175004986
42 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh37 Chromosome 2, 175869714: 175869714
43 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh38 Chromosome 2, 174799379: 174799382
44 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh37 Chromosome 2, 175664107: 175664110
45 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh37 Chromosome 2, 175869744: 175869744
46 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh38 Chromosome 2, 175005016: 175005016
47 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh38 Chromosome 2, 175005072: 175005072
48 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh37 Chromosome 2, 175869800: 175869800
Sources

Expression for Duane Retraction Syndrome

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

Pathways for Duane Retraction Syndrome

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Sources

GO Terms for Duane Retraction Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of axonogenesis GO:0050770 9.16 CHN1 EPHA4
2 motor neuron axon guidance GO:0008045 8.96 CHN1 EPHA4
3 abducens nerve formation GO:0021599 8.62 HOXA1 MAFB

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

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor binding GO:0046875 8.62 CHN1 EPHA4
Sources

Sources for Duane Retraction Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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