DRS
MCID: DNR001
MIFTS: 53

Duane Retraction Syndrome (DRS)

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

Aliases & Classifications for Duane Retraction Syndrome

MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 12 58 36 6 44 15 39 70
Stilling-Turk-Duane Syndrome 12 58
Duane's Syndrome 12
Duane Syndrome 58
Durs 58
Drs 58

Characteristics:

Orphanet epidemiological data:

58
duane retraction syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Duane Retraction Syndrome

KEGG : 36 Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS parients, absence of the abducens motor neurons and aberrant innervations of extraocular muscles by third cranial nerve have been reported.

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 ophthalmoplegia and ophthalmoparesis. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). The drugs Cisplatin and Pemetrexed have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and colon, and related phenotypes are strabismus and short palpebral fissure

Related Diseases for Duane Retraction Syndrome

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 279)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 33.3 MAFB CHN1
2 duane retraction syndrome 1 33.2 MAFB DURS1 CHN1
3 duane-radial ray syndrome 32.1 SALL4 ROBO3 PHOX2A KIF21A CHN1
4 strabismus 31.8 SALL4 ROBO3 PHOX2A KIF21A CLVS1 CHN1
5 suppression amblyopia 31.2 PHOX2A CHN1
6 amblyopia 31.0 MAFB KIF21A FOXL2 CHN1
7 exotropia 31.0 SALL4 ROBO3 PHOX2A KIF21A CHN1
8 esotropia 31.0 SALL4 ROBO3 PHOX2A KIF21A HOXA1 CHN1
9 anisometropia 30.4 PHOX2A CHN1
10 ptosis 30.4 PHOX2A KIF21A FOXL2 COL25A1
11 hypertropia 30.4 ROBO3 PHOX2A KIF21A COL25A1 CHN1
12 paralytic squint 30.3 PHOX2A KIF21A CHN1
13 ocular motility disease 30.3 SALL4 ROBO3 PHOX2A KIF21A CHN1
14 marcus gunn phenomenon 30.2 PHOX2A KIF21A FOXL2
15 partial duplication of chromosome 19 30.2 KIR3DP1 KIR3DL3 KIR2DL4 KIR2DL1
16 hypotropia 30.1 SALL4 ROBO3 PHOX2A KIF21A CHN1
17 accommodative esotropia 30.0 SALL4 ROBO3 PHOX2A HOXA1 CHN1
18 congenital ptosis 29.8 PHOX2A KIF21A FOXL2 COL25A1 CHN1
19 tukel syndrome 29.7 SALL4 ROBO3 PHOX2A KIF21A HOXA1 COL25A1
20 isolated duane retraction syndrome 11.9
21 duane retraction syndrome 3 with or without deafness 11.9
22 blepharophimosis, ptosis, and epicanthus inversus 11.4
23 athabaskan brainstem dysgenesis syndrome 11.2
24 blepharonasofacial malformation syndrome 10.9
25 potocki-lupski syndrome 10.9
26 van maldergem syndrome 10.9
27 robinow syndrome 10.9
28 mechanical strabismus 10.8
29 monocular esotropia 10.8
30 alternating exotropia 10.7
31 refractive error 10.4
32 subacute delirium 10.3
33 ametropic amblyopia 10.3 PHOX2A CHN1
34 abnormal retinal correspondence 10.3 KIF21A CPA6 CHN1
35 binocular vision disease 10.3 KIF21A CPA6 CHN1
36 abducens nerve disease 10.3
37 myopia 10.3
38 myotonic cataract 10.2 PHOX2A KIF21A
39 fibrosis of extraocular muscles, congenital, 2 10.2 PHOX2A KIF21A
40 hemifacial microsomia 10.2
41 torticollis 10.2
42 retinitis pigmentosa 10.2
43 alacrima, achalasia, and mental retardation syndrome 10.2
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
45 sensorineural hearing loss 10.2
46 neuroretinitis 10.2
47 brown's tendon sheath syndrome 10.2
48 retinitis 10.2
49 pathologic nystagmus 10.2
50 lagophthalmos 10.2 PHOX2A KIF21A

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



Diseases related to Duane Retraction Syndrome

Symptoms & Phenotypes for Duane Retraction Syndrome

Human phenotypes related to Duane Retraction Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
3 oculomotor nerve palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012246
4 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
5 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
6 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
7 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
8 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
9 abnormal vertebral segmentation and fusion 58 31 frequent (33%) Frequent (79-30%) HP:0005640
10 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
11 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
12 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
13 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
14 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
17 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
18 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
22 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
23 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
24 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
25 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
26 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
27 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
28 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
29 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
30 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
31 abnormal pupil morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000615
32 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
33 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
34 anorectal anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012732
35 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
36 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
37 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
38 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
39 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
40 narrow internal auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0011386
41 stenosis of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000402
42 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
43 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
44 hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0002984
45 aniridia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000526
46 absent radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0003974
47 central heterochromia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007818
48 optic disc hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007766
49 hypoplastic iris stroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0007990
50 patchy hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011365

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoplegia; ophthalmoparesis

MGI Mouse Phenotypes related to Duane Retraction Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CA8 CHN1 CHRNB3 CLVS1 COL25A1 EPHA4
2 nervous system MP:0003631 9.36 CA8 CHN1 COL25A1 EPHA4 HOXA1 HOXD3

Drugs & Therapeutics for Duane Retraction Syndrome

Drugs for Duane Retraction Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
2
Pemetrexed Approved, Investigational Phase 4 150399-23-8, 137281-23-3 446556 60843
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Angiogenesis Inhibitors Phase 4
6 Endostatins Phase 4 71581480
7 Endostar protein Phase 4
8 Folic Acid Antagonists Phase 4
9 Vitamin B9 Phase 4
10 Folate Phase 4
11 Vitamin B Complex Phase 4
12
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
13 Etoposide phosphate Phase 2, Phase 3
14
Gemcitabine Approved Phase 2 95058-81-4 60750
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
17
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
18
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
21
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
22
rituximab Approved Phase 2 174722-31-7 10201696
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
25
Durvalumab Approved, Investigational Phase 2 1428935-60-7
26
Lenalidomide Approved Phase 2 191732-72-6 216326
27
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
28
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
29
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
30 Antirheumatic Agents Phase 2
31
Liposomal doxorubicin Phase 2 31703
32 Tubulin Modulators Phase 2
33 Antineoplastic Agents, Immunological Phase 2
34 Immunosuppressive Agents Phase 2
35 Hormones Phase 2
36 Antimitotic Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Methylprednisolone Acetate Phase 2
39 Hormone Antagonists Phase 2
40 Immunoglobulins Phase 2
41 glucocorticoids Phase 2
42 Pharmaceutical Solutions Phase 2
43 Antineoplastic Agents, Hormonal Phase 2
44 Alkylating Agents Phase 2
45 Anti-Bacterial Agents Phase 2
46 Antibodies Phase 2
47 Anti-Inflammatory Agents Phase 2
48 Immunologic Factors Phase 2
49 Immunoglobulin G Phase 1, Phase 2
50 Albumin-Bound Paclitaxel Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Recombinant Human Endostatin Durative Transfusion Combined With Pemetrexed Plus Cisplatin or Carboplatin in the First-line Treatment of Advanced Lung Adenocarcinoma With Wild-type EGFR or ALK-negative Unknown status NCT02804646 Phase 4 recombinant human endostatin;pemetrexed plus cisplatin or carboplatin
2 Recombinant Human Endostatin (Endostar) Combined With Concurrent Chemoradiotherapy for Advanced Non-small Cell Lung Cancer: A Multicenter, Randomized, Controlled Trial Not yet recruiting NCT03588494 Phase 2, Phase 3 Endostar for one cycle;Endostar for two cycles
3 Endostar Durative Transfusion Combining With Gemcitabine-Cisplatin to Treat Non-Small Cell Lung Cancer (NSCLC) Unknown status NCT01669707 Phase 2 Endostar -Continued Pumping into+GP;Endostar -injecting into +GP
4 A Multicenter, Randomized, Double-Blind, Vehicle-Controlled, Proof of Concept Comparison Study of the Safety and Efficacy of DUR-928 Topical Solution With Occlusion in Subjects With Mild to Moderate Plaque Psoriasis Completed NCT03837743 Phase 2 DUR-928 Topical Solution;Vehicle Topical Solution
5 An Open- Label, Dose Escalation Study to Assess the Safety, Pharmacokinetics and Pharmacodynamic Signals of DUR-928 in Patients With Alcoholic Hepatitis Completed NCT03432260 Phase 2 DUR-928
6 A Randomized, Double-blind, Placebo-controlled, Phase 2b Study to Evaluate Safety and Efficacy of DUR-928 in Subjects With Alcoholic Hepatitis Recruiting NCT04563026 Phase 2 DUR-928 30 mg;DUR-928 90 mg;Placebo+ Standard of Care (SOC)
7 A Phase 2, Open-label, Multicenter Study to Evaluate the Safety and Clinical Activity of Durvalumab in Combination With Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, Prednisone (R-CHOP) or With Lenalidomide Plus R-CHOP (R2-CHOP) in Subjects With Previously Untreated, High-Risk Diffuse Large B-Cell Lymphoma Active, not recruiting NCT03003520 Phase 2 Durvalumab;Rituximab;Doxorubicin;Vincristine;Cyclophosphamide;Prednisone;Lenalidomide
8 Matched Paired Pharmacodynamics and Feasibility Study of Durvalumab in Combination With Chemotherapy in Frontline Ovarian Cancer (N-Dur) Active, not recruiting NCT02726997 Phase 1, Phase 2 Carboplatin;Paclitaxel
9 U01 Pilot Trial of DUR-928 in Patients With Moderate and Severe Alcoholic Hepatitis Not yet recruiting NCT03917407 Phase 2 DUR-928 (Moderate AH);DUR-928 (Severe AH)
10 A Randomized, Open-label, Phase 2 Study to Evaluate Safety and Efficacy of DUR-928 in Subjects With Primary Sclerosing Cholangitis (PSC) Terminated NCT03394781 Phase 2 DUR-928
11 A Randomized, Double-Blind, Placebo Controlled Study to Evaluate Safety and Efficacy of DUR-928 in Subjects Infected With SARS-CoV-2 With Acute Lung, Liver or Kidney Injury Terminated NCT04447404 Phase 2 DUR-928;Placebo
12 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
13 Presurgical Smoking Cessation Intervention for Cancer Patients: The Resolve Study Active, not recruiting NCT00575718
14 A Randomized Clinical Trial Investigating the Effect of the Music Therapy Model "The Bonny Method of Guided Imagery and Music (GIM)" on Patients Suffering From Rheumatoid Arthritis With Chronic Pain Not yet recruiting NCT04380129

Search NIH Clinical Center for Duane Retraction Syndrome

Cochrane evidence based reviews: duane retraction syndrome

Genetic Tests for Duane Retraction Syndrome

Anatomical Context for Duane Retraction Syndrome

MalaCards organs/tissues related to Duane Retraction Syndrome:

40
Eye, Kidney, Colon, Heart, Skeletal Muscle, Brain, Liver

Publications for Duane Retraction Syndrome

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 6 61
27181683 2016
2
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. 6 61
21555619 2011
3
Localization of a gene for Duane retraction syndrome to chromosome 2q31. 6 61
10577917 1999
4
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 6
25500261 2015
5
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 6
18653847 2008
6
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. 6
17197532 2007
7
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. 6
10942112 2000
8
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease. 61
33667650 2021
9
Superior Rectus Transposition and Medial Rectus Recession for Treatment of Duane Retraction Syndrome and Sixth Nerve Palsy. 61
33666529 2021
10
Effect of lateral rectus muscle resection on abduction in Duane retraction syndrome type 1. 61
33185820 2021
11
Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know? 61
33189029 2021
12
Pseudo-Duane retraction syndrome after orbital myositis. 61
33652102 2021
13
Variant types of Duane retraction syndrome: synergistic divergences and convergences. 61
33607271 2021
14
Bilateral augmented superior rectus transposition with medial rectus recession for bilateral esotropic Duane retraction syndrome. 61
33601043 2021
15
The presence of anomalous extraocular bands in Duane retraction syndrome. 61
33601039 2021
16
A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita. 61
33480805 2021
17
Surgical Outcomes of Exotropic Duane Retraction Syndrome From a Tertiary Eye Care Center. 61
33495792 2021
18
Contralateral lateral rectus muscle recession in a patient with unilateral exotropic Duane retraction syndrome type II: A case report. 61
33455502 2021
19
Augmented superior rectus muscle transposition in management of defective ocular abduction. 61
33472581 2021
20
Hummelsheim procedure combined with medial rectus recession in complete sixth nerve palsy and esotropic Duane Retraction Syndrome. 61
33228408 2020
21
Outcomes of symmetric bilateral medial rectus recession in large-angle esotropic Duane syndrome. 61
33148050 2020
22
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome. 61
33004823 2020
23
Ocular structural changes in patients with Duane retraction syndrome: Does a correlation exist? 61
32971639 2020
24
William F. Hoyt's Role in Identifying the Pathogenesis of Duane Retraction Syndrome. 61
32796341 2020
25
Superior Rectus Transposition With Medial Rectus Recession Versus Medial Rectus Recession in Esotropic Duane Retraction Syndrome. 61
32956481 2020
26
Duane-minus (Duane sine retraction and Duane sine limitation): possible incomplete forms of Duane retraction syndrome. 61
32839562 2020
27
Surgical outcome of patients with unilateral exotropic Duane retraction syndrome. 61
32479998 2020
28
Clinical Features of Duane Retraction Syndrome: A New Classification. 61
32233150 2020
29
Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation. 61
31882119 2020
30
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review. 61
32939224 2020
31
Unilateral Duane Retraction Syndrome Associated with Unilateral Congenital Cataract. 61
32095213 2020
32
Facial Asymmetry in Unilateral Duane Retraction Syndrome. 61
31834151 2019
33
Combined surgical strategy for management of unilateral exotropic Duane retraction syndrome associated with limitation of abduction. 61
31689501 2019
34
Reoperation in esotropic Duane retraction syndrome: Long-term motor outcome of superior rectus transposition. 61
31888377 2019
35
The clinical characteristics of Duane retraction syndrome in Al-Medina region. 61
31920443 2019
36
Chromosomal microarray analysis of patients with Duane retraction syndrome. 61
30478753 2019
37
Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose. 61
31756883 2019
38
A modified technique for attaching the lateral rectus muscle to the orbital periosteum through a skin incision over the lateral orbital rim. 61
31103564 2019
39
Diffusion Tensor Imaging of the Lateral Rectus Muscle in Duane Retraction Syndrome. 61
31082953 2019
40
Binocular Function in Subjects with Orthotropic Duane Retraction Syndrome. 61
31034344 2019
41
Absent cochlear and abducens nerves in a patient with Duane retraction syndrome. 61
30377846 2019
42
Botulinum toxin-A injection in esotropic Duane syndrome patients up to 2 years of age. 61
30654143 2019
43
Transposition procedures in Duane retraction syndrome. 61
30586616 2019
44
Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly. 61
31114123 2019
45
Duane retraction syndrome in a patient with abnormal head position. 61
31619934 2019
46
Management of Duane retraction syndrome: A simplified approach. 61
30574884 2019
47
Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. 61
30516080 2019
48
Auditory brainstem response. 61
31277868 2019
49
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. 61
30200099 2018
50
Protocadherin-Mediated Cell Repulsion Controls the Central Topography and Efferent Projections of the Abducens Nucleus. 61
30089266 2018

Variations for Duane Retraction Syndrome

ClinVar genetic disease variations for Duane Retraction Syndrome:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHN1 NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) SNV Pathogenic 17550 rs121912792 GRCh37: 2:175809670-175809670
GRCh38: 2:174944942-174944942
2 CHN1 NM_001822.7(CHN1):c.378T>G (p.Ile126Met) SNV Pathogenic 17551 rs121912793 GRCh37: 2:175742739-175742739
GRCh38: 2:174878011-174878011
3 CHN1 NM_001822.7(CHN1):c.427T>C (p.Tyr143His) SNV Pathogenic 17552 rs121912794 GRCh37: 2:175742690-175742690
GRCh38: 2:174877962-174877962
4 CHN1 NM_001822.7(CHN1):c.668C>T (p.Ala223Val) SNV Pathogenic 17553 rs121912795 GRCh37: 2:175689206-175689206
GRCh38: 2:174824478-174824478
5 CHN1 NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) SNV Pathogenic 17554 rs121912796 GRCh37: 2:175689192-175689192
GRCh38: 2:174824464-174824464
6 CHN1 NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) SNV Pathogenic 17555 rs121912797 GRCh37: 2:175677168-175677168
GRCh38: 2:174812440-174812440
7 CHN1 NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) SNV Pathogenic 17556 rs121912798 GRCh37: 2:175676266-175676266
GRCh38: 2:174811538-174811538
8 CHN1 NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) SNV Pathogenic 29623 rs387906599 GRCh37: 2:175742695-175742695
GRCh38: 2:174877967-174877967
9 CHN1 NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) SNV Pathogenic 29624 rs387906600 GRCh37: 2:175677169-175677169
GRCh38: 2:174812441-174812441
10 COL25A1 NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) SNV Pathogenic 180690 rs780209390 GRCh37: 4:109784483-109784483
GRCh38: 4:108863327-108863327
11 COL25A1 NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) SNV Pathogenic 180691 rs886037741 GRCh37: 4:109767321-109767321
GRCh38: 4:108846165-108846165
12 COL25A1 COL25A1, 12.4-KB DEL Deletion Pathogenic 180692 GRCh37:
GRCh38:
13 MAFB NM_005461.5(MAFB):c.803del (p.Asn268fs) Deletion Pathogenic 224628 rs879255275 GRCh37: 20:39316688-39316688
GRCh38: 20:40688048-40688048
14 MAFB NM_005461.5(MAFB):c.803del (p.Asn268fs) Deletion Pathogenic 224628 rs879255275 GRCh37: 20:39316688-39316688
GRCh38: 20:40688048-40688048
15 MAFB NM_005461.5(MAFB):c.440del (p.Gly147fs) Deletion Pathogenic 224626 rs879255276 GRCh37: 20:39317051-39317051
GRCh38: 20:40688411-40688411
16 MAFB NM_005461.4(MAFB):c.(?_391)_*(390_?)del Deletion Pathogenic 224629 GRCh37: 20:39316129-39317100
GRCh38: 20:40687489-40688460
17 MAFB NM_005461.5(MAFB):c.644del (p.Gln215fs) Deletion Pathogenic 224627 rs879255277 GRCh37: 20:39316847-39316847
GRCh38: 20:40688207-40688207
18 CHN1 NM_001822.7(CHN1):c.661T>C (p.Tyr221His) SNV Pathogenic 559835 rs1553475005 GRCh37: 2:175689213-175689213
GRCh38: 2:174824485-174824485
19 CHN1 NM_001822.7(CHN1):c.-104C>T SNV Uncertain significance 332473 rs886055156 GRCh37: 2:175869744-175869744
GRCh38: 2:175005016-175005016
20 CHN1 NM_001822.7(CHN1):c.-36C>T SNV Uncertain significance 332470 rs775399462 GRCh37: 2:175869676-175869676
GRCh38: 2:175004948-175004948
21 CHN1 NM_001822.7(CHN1):c.628-15C>T SNV Uncertain significance 332467 rs529028832 GRCh37: 2:175689261-175689261
GRCh38: 2:174824533-174824533
22 CHN1 NM_001822.7(CHN1):c.*154G>A SNV Uncertain significance 332460 rs529610497 GRCh37: 2:175664690-175664690
GRCh38: 2:174799962-174799962
23 CHN1 NM_001822.7(CHN1):c.-74C>T SNV Uncertain significance 332472 rs886055155 GRCh37: 2:175869714-175869714
GRCh38: 2:175004986-175004986
24 CHN1 NM_001822.7(CHN1):c.500C>T (p.Thr167Ile) SNV Uncertain significance 332468 rs752956891 GRCh37: 2:175742617-175742617
GRCh38: 2:174877889-174877889
25 CHN1 NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) SNV Uncertain significance 332462 rs369847378 GRCh37: 2:175664905-175664905
GRCh38: 2:174800177-174800177
26 CHN1 NM_001822.7(CHN1):c.-160C>G SNV Uncertain significance 332474 rs572040045 GRCh37: 2:175869800-175869800
GRCh38: 2:175005072-175005072
27 CHN1 NM_001822.7(CHN1):c.964+6T>G SNV Uncertain significance 332463 rs764237103 GRCh37: 2:175676233-175676233
GRCh38: 2:174811505-174811505
28 CHN1 NM_001822.7(CHN1):c.432G>C (p.Glu144Asp) SNV Uncertain significance 332469 rs886055154 GRCh37: 2:175742685-175742685
GRCh38: 2:174877957-174877957
29 CHN1 NM_001822.7(CHN1):c.-271T>C SNV Uncertain significance 332475 rs543170770 GRCh37: 2:175869911-175869911
GRCh38: 2:175005183-175005183
30 CHN1 NM_001822.7(CHN1):c.*608A>G SNV Uncertain significance 332458 rs886055153 GRCh37: 2:175664236-175664236
GRCh38: 2:174799508-174799508
31 CHN1 NM_001822.7(CHN1):c.-298C>G SNV Uncertain significance 332476 rs879722535 GRCh37: 2:175869938-175869938
GRCh38: 2:175005210-175005210
32 CHN1 NM_001822.7(CHN1):c.7C>T (p.Leu3=) SNV Uncertain significance 892787 GRCh37: 2:175869634-175869634
GRCh38: 2:175004906-175004906
33 CHN1 NM_001822.7(CHN1):c.-23G>T SNV Uncertain significance 892788 GRCh37: 2:175869663-175869663
GRCh38: 2:175004935-175004935
34 CHN1 NM_001822.7(CHN1):c.*564G>A SNV Uncertain significance 893547 GRCh37: 2:175664280-175664280
GRCh38: 2:174799552-174799552
35 CHN1 NM_001822.7(CHN1):c.*426C>T SNV Uncertain significance 893548 GRCh37: 2:175664418-175664418
GRCh38: 2:174799690-174799690
36 CHN1 NM_001822.7(CHN1):c.*422C>T SNV Uncertain significance 893549 GRCh37: 2:175664422-175664422
GRCh38: 2:174799694-174799694
37 CHN1 NM_001822.7(CHN1):c.*337G>C SNV Uncertain significance 893550 GRCh37: 2:175664507-175664507
GRCh38: 2:174799779-174799779
38 CHN1 NM_001822.7(CHN1):c.*309G>A SNV Uncertain significance 893551 GRCh37: 2:175664535-175664535
GRCh38: 2:174799807-174799807
39 CHN1 NM_001822.7(CHN1):c.*256C>T SNV Uncertain significance 893552 GRCh37: 2:175664588-175664588
GRCh38: 2:174799860-174799860
40 CHN1 NM_001822.7(CHN1):c.*252C>T SNV Uncertain significance 893553 GRCh37: 2:175664592-175664592
GRCh38: 2:174799864-174799864
41 CHN1 NM_001822.7(CHN1):c.*198A>G SNV Uncertain significance 893554 GRCh37: 2:175664646-175664646
GRCh38: 2:174799918-174799918
42 CHN1 NM_001822.7(CHN1):c.-206G>A SNV Uncertain significance 893595 GRCh37: 2:175869846-175869846
GRCh38: 2:175005118-175005118
43 CHN1 NM_001822.7(CHN1):c.-353C>T SNV Uncertain significance 893596 GRCh37: 2:175869993-175869993
GRCh38: 2:175005265-175005265
44 CHN1 NM_001822.7(CHN1):c.*52T>C SNV Uncertain significance 893847 GRCh37: 2:175664792-175664792
GRCh38: 2:174800064-174800064
45 CHN1 NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu) SNV Uncertain significance 893848 GRCh37: 2:175666528-175666528
GRCh38: 2:174801800-174801800
46 CHN1 NM_001822.7(CHN1):c.1002A>G (p.Glu334=) SNV Uncertain significance 893849 GRCh37: 2:175673733-175673733
GRCh38: 2:174809005-174809005
47 CHN1 NM_001822.7(CHN1):c.588C>T (p.Asn196=) SNV Uncertain significance 709072 rs146313212 GRCh37: 2:175711647-175711647
GRCh38: 2:174846919-174846919
48 CHN1 NM_001822.7(CHN1):c.550-4G>A SNV Uncertain significance 894766 GRCh37: 2:175711689-175711689
GRCh38: 2:174846961-174846961
49 CHN1 NM_001822.7(CHN1):c.435C>T (p.His145=) SNV Uncertain significance 722100 rs527929031 GRCh37: 2:175742682-175742682
GRCh38: 2:174877954-174877954
50 CHN1 NM_001822.7(CHN1):c.297C>T (p.Tyr99=) SNV Uncertain significance 894767 GRCh37: 2:175742820-175742820
GRCh38: 2:174878092-174878092

Expression for Duane Retraction Syndrome

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

Pathways for Duane Retraction Syndrome

GO Terms for Duane Retraction Syndrome

Cellular components related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 8.8 KIR2DL4 EPHA4 CLVS1

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

# Name GO ID Score Top Affiliating Genes
1 cochlea development GO:0090102 9.26 HOXA1 EPHA4
2 motor neuron axon guidance GO:0008045 9.16 EPHA4 CHN1
3 regulation of axonogenesis GO:0050770 8.96 EPHA4 CHN1
4 abducens nerve formation GO:0021599 8.62 MAFB HOXA1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 SALL4 PHOX2A MAFB HOXD3 HOXA1 FOXL2
2 sequence-specific double-stranded DNA binding GO:1990837 9.02 PHOX2A MAFB HOXD3 HOXA1 FOXL2
3 ephrin receptor binding GO:0046875 8.96 EPHA4 CHN1

Sources for Duane Retraction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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