MCID: OCL011
MIFTS: 38

Ocular Motility Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ocular Motility Disease

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:



External Ids:

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

Summaries for Ocular Motility Disease

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 pathologic nystagmus, and has symptoms including ophthalmoplegia, eye manifestations and hyperexplexia. An important gene associated with Ocular Motility Disease is TUBB3 (Tubulin Beta 3 Class III). Affiliated tissues include eye, testes and brain, and related phenotype is cellular.

Wikipedia : 76 Eye movement includes the voluntary or involuntary movement of the eyes, helping in acquiring, fixating... more...

Related Diseases for Ocular Motility Disease

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 2 31.9 KIF21A PHOX2A
2 pathologic nystagmus 29.8 FRMD7 GPR143 LMLN TUBB3
3 esotropia 29.7 CHN1 PLA2G16 ROBO3 TUBB3
4 strabismus 29.2 CHN1 FRMD7 GPR143 KIF21A PHOX2A PLA2G16
5 brown's tendon sheath syndrome 11.8
6 motor neuro-ophthalmic disorders 11.8
7 fibrosis of extraocular muscles, congenital, 1 11.2
8 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.0
9 fibrosis of extraocular muscles, congenital, 5 11.0
10 duane retraction syndrome 1 10.8
11 duane syndrome type 2 10.8
12 duane syndrome type 3 10.8
13 isolated duane retraction syndrome 10.8
14 gaucher disease, type i 10.8
15 wildervanck syndrome 10.8
16 duane retraction syndrome 2 10.8
17 duane retraction syndrome 3 with or without deafness 10.8
18 duane syndrome type 1 10.8
19 movement disease 10.5
20 marcus gunn phenomenon 10.3 CHN1 TUBB3
21 x-linked infantile nystagmus 10.2 FRMD7 GPR143
22 mitochondrial neurogastrointestinal encephalopathy disease 10.2 POLG TYMP
23 enophthalmos 10.2 CHN1 TNNI3K
24 moebius syndrome 10.2 PHOX2A TUBB3
25 deafness, autosomal dominant 28 10.2 CHN1 KIF21A TUBB3
26 mitochondrial neurogastrointestinal encephalomyopathy 10.2 POLG TYMP
27 ataxia neuropathy spectrum 10.2 POLG TWNK
28 maternally-inherited progressive external ophthalmoplegia 10.2 POLG TWNK
29 congenital nystagmus 10.2 FRMD7 GPR143 TUBB3
30 orbital disease 10.2 CHN1 TNNI3K
31 cranial nerve palsy 10.2 CHN1 NT5C3A
32 myopathy, proximal, and ophthalmoplegia 10.1 MYH2 RYR1
33 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 POLG TWNK
34 duane retraction syndrome 10.1 CHN1 KIF21A TNNI3K TUBB3
35 mitochondrial dna depletion syndrome 4a 10.1 POLG TWNK TYMP
36 facial paralysis 10.1 TNNI3K TUBB3
37 3-methylglutaconic aciduria, type v 10.1 POLG TWNK TYMP
38 mitochondrial dna depletion syndrome 7 10.1 SLC25A4 TWNK
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1 POLG TWNK TYMP
40 autosomal dominant progressive external ophthalmoplegia 10.1 POLG SLC25A4 TWNK
41 3-methylglutaconic aciduria, type iv 10.1 POLG RYR1
42 mitochondrial dna depletion syndrome 1 10.1 POLG TYMP
43 axonal neuropathy 10.1 POLG SLC25A4 TWNK
44 alternating esotropia 10.1 CHN1 KANTR
45 dissociated nystagmus 10.1 FRMD7 KANTR
46 exotropia 10.0 CHN1 KIF21A PHOX2A TNNI3K TUBB3
47 oculomotor nerve paralysis 10.0 CHN1 KANTR
48 third cranial nerve disease 10.0 CHN1 KANTR
49 amblyopia 10.0 CHN1 PHOX2A PLA2G16 TUBB3
50 chronic progressive external ophthalmoplegia 10.0 POLG SLC25A4 TWNK 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

Symptoms & Phenotypes for Ocular Motility Disease

UMLS symptoms related to Ocular Motility Disease:


ophthalmoplegia, eye manifestations, hyperexplexia, deficiencies of smooth pursuit movements, spasm of conjugate gaze, anomalies of divergence, 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 9.4 CHN1 PHOX2A PLA2G16 POLG ROBO3 RYR1

Drugs & Therapeutics for Ocular Motility Disease

Search Clinical Trials , NIH Clinical Center for Ocular Motility Disease

Genetic Tests for Ocular Motility Disease

Genetic tests related to Ocular Motility Disease:

# Genetic test Affiliating Genes
1 Abnormality of Eye Movement 29

Anatomical Context for Ocular Motility Disease

MalaCards organs/tissues related to Ocular Motility Disease:

41
Eye, Testes, Brain

Publications for Ocular Motility Disease

Articles related to Ocular Motility Disease:

(show all 20)
# Title Authors Year
1
A cohort study on acute ocular motility disorders in pediatric emergency department. ( 29843812 )
2018
2
Burden of Ocular Motility Disorders at a Tertiary Care Institution: A Case to Enhance Secondary Level Eye Care. ( 27051084 )
2016
3
Congenital and Genetic Ocular Motility Disorders: Update and Considerations. ( 26564928 )
2015
4
The use of dynamic magnetic resonance in the diagnosis of ocular motility disorders. ( 21853952 )
2011
5
Surgical treatment of vertical ocular motility disorders of supranuclear origin. ( 22069848 )
2011
6
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. ( 20535495 )
2010
7
Overview and comparison of screen test methods used in quantifying ocular motility disorders. ( 21149143 )
2006
8
Applications of molecular genetics to the understanding of congenital ocular motility disorders. ( 11960793 )
2002
9
Refractive errors and ocular motility disorders in preterm babies with and without retinopathy of prematurity. ( 10516517 )
1999
10
Surgical treatment of supranuclear and internuclear ocular motility disorders. ( 9373480 )
1997
11
Video loop MRI of ocular motility disorders. ( 7822545 )
1995
12
Original papers: Ocular motility disorders after surgery for retinitis pigmentosa 'Cuba-therapy'. ( 21314532 )
1995
13
Ocular motility disorders secondary to sinus surgery. ( 8443115 )
1993
14
Botulinum toxin treatment of supranuclear ocular motility disorders. ( 1620351 )
1992
15
Ocular motility disorders and orbital trauma. ( 1639595 )
1992
16
Prevalence of refractive errors and ocular motility disorders in 5- to 10-year-old Swedish children born prematurely or at full-term. ( 2618642 )
1989
17
Intraocular pressure changes in secondary positions of gaze in normal subjects and in restrictive ocular motility disorders. ( 3342982 )
1988
18
Magnetic resonance imaging of the posterior fossa in ocular motility disorders--four case studies. ( 2963030 )
1987
19
Computed tomography scanning in the evaluation of ocular motility disorders. ( 3299474 )
1987
20
Ultrastructural studies of extraocular muscles in ocular motility disorders. II. Morphological analysis of 38 biopsies. ( 215049 )
1978

Variations for Ocular Motility Disease

Expression for Ocular Motility Disease

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

Pathways for Ocular Motility Disease

GO Terms for Ocular Motility Disease

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 for Ocular Motility Disease

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
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