Ocular Motility Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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

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...

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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:

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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

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Drugs & Therapeutics for Ocular Motility Disease

Search Clinical Trials , NIH Clinical Center for Ocular Motility Disease

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Genetic Tests for Ocular Motility Disease

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

MalaCards organs/tissues related to Ocular Motility Disease:

⁴¹

Eye, Testes, Brain

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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 )	Raucci U...Pirozzi N	2018
2	Burden of Ocular Motility Disorders at a Tertiary Care Institution: A Case to Enhance Secondary Level Eye Care. ( 27051084 )	Saxena R...Sharma P	2016
3	Congenital and Genetic Ocular Motility Disorders: Update and Considerations. ( 26564928 )	Oystreck D	2015
4	The use of dynamic magnetic resonance in the diagnosis of ocular motility disorders. ( 21853952 )	Loba P...Broniarczyk-Loba A	2011
5	Surgical treatment of vertical ocular motility disorders of supranuclear origin. ( 22069848 )	Brodsky MC	2011
6	Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. ( 20535495 )	Volk A.E....Neugebauer A.	2010
7	Overview and comparison of screen test methods used in quantifying ocular motility disorders. ( 21149143 )	Roper-Hall G	2006
8	Applications of molecular genetics to the understanding of congenital ocular motility disorders. ( 11960793 )	Engle EC	2002
9	Refractive errors and ocular motility disorders in preterm babies with and without retinopathy of prematurity. ( 10516517 )	Ricci B	1999
10	Surgical treatment of supranuclear and internuclear ocular motility disorders. ( 9373480 )	Buckley SA...Elston JS	1997
11	Video loop MRI of ocular motility disorders. ( 7822545 )	Jewell FM...Goddard P	1995
12	Original papers: Ocular motility disorders after surgery for retinitis pigmentosa 'Cuba-therapy'. ( 21314532 )	Berger RW...Gerding H	1995
13	Ocular motility disorders secondary to sinus surgery. ( 8443115 )	Penne RB...Nowinski T	1993
14	Botulinum toxin treatment of supranuclear ocular motility disorders. ( 1620351 )	Newman NJ...Lambert SR	1992
15	Ocular motility disorders and orbital trauma. ( 1639595 )	McKeown CA	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 )	Lennerstrand G...Gallo JE	1989
17	Intraocular pressure changes in secondary positions of gaze in normal subjects and in restrictive ocular motility disorders. ( 3342982 )	Nardi M...Barca L	1988
18	Magnetic resonance imaging of the posterior fossa in ocular motility disorders--four case studies. ( 2963030 )	Lewis MA...Baker RS	1987
19	Computed tomography scanning in the evaluation of ocular motility disorders. ( 3299474 )	Miller MT...Mafee MF	1987
20	Ultrastructural studies of extraocular muscles in ocular motility disorders. II. Morphological analysis of 38 biopsies. ( 215049 )	Berard-Badier M...Berard PV	1978

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Genes for Ocular Motility Disease

Genes related to Ocular Motility Disease (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TUBB3	Tubulin Beta 3 Class III	Protein Coding	24.43	DISEASES inferred ¹⁵ ¹⁵
2	CHN1	Chimerin 1	Protein Coding	19.18	DISEASES inferred ¹⁵
3	KIF21A	Kinesin Family Member 21A	Protein Coding	18.81	DISEASES inferred ¹⁵
4	FRMD7	FERM Domain Containing 7	Protein Coding	18.31	DISEASES inferred ¹⁵
5	PHOX2A	Paired Like Homeobox 2A	Protein Coding	17.75	DISEASES inferred ¹⁵
6	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	17.2	DISEASES inferred ¹⁵
7	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	16.98	DISEASES inferred ¹⁵
8	MYH2	Myosin Heavy Chain 2	Protein Coding	16.96	DISEASES inferred ¹⁵
9	GPR143	G Protein-Coupled Receptor 143	Protein Coding	16.85	DISEASES inferred ¹⁵
10	TYMP	Thymidine Phosphorylase	Protein Coding	16.74	DISEASES inferred ¹⁵
11	TNNI3K	TNNI3 Interacting Kinase	Protein Coding	16.73	DISEASES inferred ¹⁵
12	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	16.64	DISEASES inferred ¹⁵
13	SLC25A4	Solute Carrier Family 25 Member 4	Protein Coding	16.6	DISEASES inferred ¹⁵
14	TWNK	Twinkle MtDNA Helicase	Protein Coding	16.54	DISEASES inferred ¹⁵
15	NT5C3A	5'-Nucleotidase, Cytosolic IIIA	Protein Coding	16.52	DISEASES inferred ¹⁵
16	RYR1	Ryanodine Receptor 1	Protein Coding	16.47	DISEASES inferred ¹⁵
17	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	15.99	DISEASES inferred ¹⁵
18	PLA2G16	Phospholipase A2 Group XVI	Protein Coding	7.93	DISEASES inferred ¹⁵
19	KANTR	KDM5C Adjacent Transcript	RNA Gene	6.07	DISEASES inferred ¹⁵
20	LMLN	Leishmanolysin Like Peptidase	Protein Coding	6.03	DISEASES inferred ¹⁵

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Variations for Ocular Motility Disease

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Expression for Ocular Motility Disease

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

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

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Sources for Ocular Motility Disease

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