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MCID: OCL011
MIFTS: 41

Ocular Motility Disease

Categories: Rare diseases, Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ocular Motility Disease

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MalaCards integrated aliases for Ocular Motility Disease:

Name: Ocular Motility Disease 12 15
Ocular Motility Disorders 76 53 73
Abnormality of Eye Movement 29 6
Motor Neuro-Ophthalmic Disorders 53
Disorder of Eye Movements 12
Eye Movement Disorders 43
Eye Movement Disorder 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1279
ICD9CM 35 378.9
MeSH 44 D015835
SNOMED-CT 68 45030009
UMLS 73 C0028850
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Summaries for Ocular Motility Disease

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MedlinePlus : 43 When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in "crossed eyes" or "walleye." Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over time and may be associated with other problems, such as injuries. Treatments include glasses, patches, eye muscle exercises, and surgery. There is no cure for some kinds of eye movement disorders, such as most kinds of nystagmus.

MalaCards based summary : Ocular Motility Disease, also known as ocular motility disorders, is related to fibrosis of extraocular muscles, congenital, 2 and tukel syndrome, and has symptoms including eye manifestations, ophthalmoplegia and spasm of conjugate gaze. An important gene associated with Ocular Motility Disease is TUBB3 (Tubulin Beta 3 Class III). The drugs Dexamethasone and Fluorometholone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotype is cellular.

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Related Diseases for Ocular Motility Disease

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Diseases related to Ocular Motility Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 2 32.5 KIF21A PHOX2A
2 tukel syndrome 30.9 CHN1 KIF21A PHOX2A ROBO3 TNNI3K TUBB3
3 brown's tendon sheath syndrome 11.6
4 motor neuro-ophthalmic disorders 11.6
5 fibrosis of extraocular muscles, congenital, 1 11.0
6 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.9
7 fibrosis of extraocular muscles, congenital, 5 10.9
8 x-linked infantile nystagmus 10.8 FRMD7 GPR143
9 marcus gunn phenomenon 10.8 CHN1 TUBB3
10 mitochondrial neurogastrointestinal encephalopathy disease 10.7 POLG TYMP
11 hypertropia 10.7 CHN1 KIF21A TUBB3
12 ataxia neuropathy spectrum 10.7 POLG TWNK
13 mitochondrial neurogastrointestinal encephalomyopathy 10.7 POLG TYMP
14 maternally-inherited progressive external ophthalmoplegia 10.7 POLG TWNK
15 facial nerve disease 10.7 KIF21A PHOX2A TUBB3
16 duane retraction syndrome 1 10.7
17 duane syndrome type 2 10.7
18 duane syndrome type 3 10.7
19 isolated duane retraction syndrome 10.7
20 esotropia 10.6 CHN1 ROBO3 TUBB3
21 wildervanck syndrome 10.6
22 gaucher's disease 10.6
23 pathologic nystagmus 10.6 FRMD7 GPR143 TUBB3
24 congenital nystagmus 10.6 FRMD7 GPR143 TUBB3
25 cranial nerve palsy 10.6 CHN1 NT5C3A
26 enophthalmos 10.5 CHN1 TNNI3K
27 paralytic squint 10.5 CHN1 KIF21A PHOX2A TUBB3
28 myopathy, proximal, and ophthalmoplegia 10.4 MYH2 RYR1
29 mitochondrial dna depletion syndrome 4a 10.4 POLG TWNK TYMP
30 orbital disease 10.4 CHN1 TNNI3K
31 3-methylglutaconic aciduria, type v 10.4 POLG TWNK TYMP
32 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.4 POLG TWNK
33 mitochondrial dna depletion syndrome 7 10.4 SLC25A4 TWNK
34 3-methylglutaconic aciduria, type iv 10.3 POLG RYR1
35 autosomal dominant progressive external ophthalmoplegia 10.3 POLG SLC25A4 TWNK
36 axonal neuropathy 10.3 POLG SLC25A4 TWNK
37 hypotropia 10.2 CHN1 FRMD7 KIF21A PHOX2A TUBB3
38 deafness, autosomal dominant 28 10.1 CHN1 KIF21A SALL4 TUBB3
39 duane retraction syndrome 10.1 CHN1 KIF21A SALL4 TUBB3
40 duane-radial ray syndrome 10.1 CHN1 SALL4
41 accommodative esotropia 10.1 CHN1 PLA2G16
42 facial paralysis 10.1 TNNI3K TUBB3
43 chronic progressive external ophthalmoplegia 10.0 POLG SLC25A4 TWNK TYMP
44 mitochondrial disorders 10.0 POLG SLC25A4 TWNK TYMP
45 mitochondrial dna depletion syndrome 1 10.0 POLG TYMP
46 poland syndrome 10.0 CHN1 PLA2G16 TUBB3
47 peripheral nervous system disease 9.7 CHN1 DPAGT1 KIF21A POLG TUBB3
48 congenital ptosis 9.7 CHN1 KIF21A RYR1 TNNI3K TUBB3
49 exotropia 9.7 CHN1 KIF21A PHOX2A ROBO3 TNNI3K TUBB3
50 ptosis 9.6 KIF21A PHOX2A POLG RYR1 TUBB3 TYMP

Comorbidity relations with Ocular Motility Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Ocular Motility Disease:



Diseases related to Ocular Motility Disease
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Symptoms & Phenotypes for Ocular Motility Disease

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UMLS symptoms related to Ocular Motility Disease:


eye manifestations, ophthalmoplegia, spasm of conjugate gaze, anomalies of divergence, deficiencies of smooth pursuit movements, hyperexplexia, pseudoophthalmoplegia, smooth pursuit deficiency

MGI Mouse Phenotypes related to Ocular Motility Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.44 VANGL2 CHN1 PHOX2A PLA2G16 POLG ROBO3
Sources

Drugs & Therapeutics for Ocular Motility Disease

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Drugs for Ocular Motility Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
2
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
3
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
4
Rimexolone Approved Phase 4 49697-38-3 39507
5
Benzocaine Approved, Investigational Phase 4,Not Applicable 1994-09-7, 94-09-7 2337
6
Desflurane Approved Phase 4 57041-67-5 42113
7
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
8
Acetylcholine Approved Phase 4,Phase 3,Not Applicable 51-84-3 187
9
Iodine Approved, Investigational Phase 4,Not Applicable 7553-56-2 807
10
Povidone Approved Phase 4,Not Applicable 9003-39-8
11
Povidone-iodine Approved Phase 4,Not Applicable 25655-41-8
12
Brinzolamide Approved Phase 4 138890-62-7 68844
13
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
14
Gabapentin Approved, Investigational Phase 4,Phase 2,Not Applicable 60142-96-3 3446
15
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 2,Not Applicable 56-12-2 119
16
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
17
Dexmedetomidine Approved, Vet_approved Phase 4,Not Applicable 113775-47-6 68602 5311068
18
Midazolam Approved, Illicit Phase 4,Not Applicable 59467-70-8 4192
19 tannic acid Approved, Nutraceutical Phase 4,Not Applicable
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anesthetics, General Phase 4,Phase 2,Not Applicable
23 Anesthetics, Inhalation Phase 4,Not Applicable
24 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
26 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
27 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2,Not Applicable
28 Analgesics Phase 4,Phase 2,Phase 1,Not Applicable
29 Hypnotics and Sedatives Phase 4,Phase 2,Not Applicable
30 Adjuvants, Anesthesia Phase 4,Phase 3,Not Applicable
31 Anesthetics, Intravenous Phase 4,Phase 2,Not Applicable
32 Anti-Allergic Agents Phase 4
33 Antiemetics Phase 4,Phase 3
34 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
35 Antineoplastic Agents, Hormonal Phase 4,Phase 3
36 Autonomic Agents Phase 4,Phase 3,Not Applicable
37 BB 1101 Phase 4,Phase 3
38 Dexamethasone acetate Phase 4,Phase 3 1177-87-3
39 Gastrointestinal Agents Phase 4,Phase 3
40 glucocorticoids Phase 4,Phase 3
41 HIV Protease Inhibitors Phase 4,Phase 3
42 Hormone Antagonists Phase 4,Phase 3
43 Hormones Phase 4,Phase 3
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46
protease inhibitors Phase 4,Phase 3
47 abobotulinumtoxinA Phase 4,Phase 3
48 Botulinum Toxins Phase 4,Phase 3,Not Applicable
49 Botulinum Toxins, Type A Phase 4,Phase 3
50 Neuromuscular Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 208)
# Name Status NCT ID Phase Drugs
1 Ocular-hypertensive Response to Topical Steroids in Children After Bilateral Strabismus Surgery Completed NCT02816905 Phase 4 0.1 % Dexamethasone;0.1% Fluorometholone;1% Rimexolone
2 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex Completed NCT02379546 Phase 4 Desflurane
3 Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
4 Povidone-iodine Antisepsis for Strabismus Surgery Completed NCT00461656 Phase 4 Preoperative conjunctival irrigation with 5% or 1.25% PI
5 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
6 Treatment of Pendular Nystagmus in OPT Completed NCT02466191 Phase 4 Memantine;Gabapentin
7 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
8 Effects of Dexmedetomidine Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
9 The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. Recruiting NCT03349515 Phase 4 Provodine-Iodine Solution;Group B will receive three drops in each eye of ophthalmic balanced salt solution.
10 Convergence Insufficiency Treatment Trial (CITT) Unknown status NCT00338611 Phase 3
11 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
12 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
13 Randomized Trial of Treatments for Convergence Insufficiency Completed NCT00347945 Phase 3
14 A Randomized Trial of Base-in Prism Reading Glasses Convergence Insufficiency in Children Completed NCT00347581 Phase 3
15 Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus Completed NCT01584843 Phase 3 GSK1358820
16 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
17 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3 Davunetide;Placebo
18 Effects of Prismatic Spectacle Lenses on Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria Completed NCT00785135 Phase 3
19 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3 CoQ10
20 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP) Completed NCT00382824 Phase 2, Phase 3 CoenzymeQ10
21 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
22 The Effect of Slanted Recession of Horizontal Muscle on Horizontal Strabismus With Abnormal Accommodative Convergence /Accommodation Ratio (AC/A) Recruiting NCT03555045 Phase 2, Phase 3
23 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
24 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
25 Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy Recruiting NCT02839642 Phase 3 Rivastigmine;Placebo
26 Office-based Vision Therapy for Improving Reading and Attention in Children With Convergence Insufficiency Active, not recruiting NCT02207517 Phase 3
27 Botox Instead of Strabismus Surgery (BISS) Not yet recruiting NCT03459092 Phase 3 Botulinum toxin type A
28 Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear Palsy Terminated NCT01187888 Phase 3 Rasagiline;Sugar pill
29 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
30 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
31 Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of Parkinsonism Unknown status NCT01824121 Phase 1, Phase 2
32 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
33 Efficacy Study for Treatment of Dementia in Progressive Supranuclear Palsy Unknown status NCT00522015 Phase 2 rivastigmine
34 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
35 Effectiveness of Rituximab in Pediatric OMS Patients. Completed NCT00244361 Phase 1, Phase 2 rituximab
36 Prevention of Complications of Eye Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
37 Efficacy and Safety Study of Neramexane to Treat Congenital and Acquired Nystagmus Completed NCT00661440 Phase 2 Neramexane mesylate
38 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
39 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
40 Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy Completed NCT01537549 Phase 1, Phase 2 alpha-lipoic acid and L-acetyl carnitine
41 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
42 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
43 Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine) Completed NCT00385710 Phase 2 valproic acid;Placebo
44 Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2 Coenzyme Q10
45 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
46 Comparison of Three Vision Therapy Approaches for Convergence Insufficiency Recruiting NCT03431454 Phase 2
47 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Recruiting NCT03135938 Phase 1, Phase 2
48 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Recruiting NCT02391961 Phase 2 Dalfampridine;Placebo
49 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Recruiting NCT03391765 Phase 2 ABBV-8E12
50 Study of BIIB092 in Participants With Progressive Supranuclear Palsy Recruiting NCT03068468 Phase 2

Search NIH Clinical Center for Ocular Motility Disease

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Genetic Tests for Ocular Motility Disease

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Genetic tests related to Ocular Motility Disease:

# Genetic test Affiliating Genes
1 Abnormality of Eye Movement 29
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Anatomical Context for Ocular Motility Disease

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MalaCards organs/tissues related to Ocular Motility Disease:

41
Eye, Brain, Testes, Colon, Bone, Bone Marrow
Sources

Publications for Ocular Motility Disease

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Articles related to Ocular Motility Disease:

# Title Authors Year
1
Inferior oblique myokymia: a unique ocular motility disorder. ( 23494050 )
2013
2
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. ( 20535495 )
2010
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Variations for Ocular Motility Disease

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ClinVar genetic disease variations for Ocular Motility Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
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Expression for Ocular Motility Disease

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Search GEO for disease gene expression data for Ocular Motility Disease.
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Pathways for Ocular Motility Disease

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GO Terms for Ocular Motility Disease

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Biological processes related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial genome maintenance GO:0000002 9.26 SLC25A4 TYMP
2 pyrimidine nucleoside catabolic process GO:0046135 9.16 NT5C3A TYMP
3 mitochondrial DNA replication GO:0006264 8.96 POLG TWNK
4 pyrimidine nucleoside metabolic process GO:0006213 8.62 NT5C3A TYMP

Molecular functions related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.8 POLG RYR1 TWNK
Sources

Sources for Ocular Motility Disease

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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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