MCID: EST005
MIFTS: 43

Esotropia

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Esotropia

MalaCards integrated aliases for Esotropia:

Name: Esotropia 12 74 52 29 6 15 71
Convergence in Manifest Squint 12
Internal Strabismus 12
Crossed Eyes 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9840
ICD9CM 34 378.0 378.00
MeSH 43 D004948
NCIt 49 C34596
SNOMED-CT 67 16596007
ICD10 32 H50.0 H50.00
UMLS 71 C0014877

Summaries for Esotropia

Disease Ontology : 12 A strabismus that is characterized the eye which turns inward toward the nose.

MalaCards based summary : Esotropia, also known as convergence in manifest squint, is related to accommodative esotropia and abducens nerve disease. An important gene associated with Esotropia is ANKRD11 (Ankyrin Repeat Domain 11). The drugs Iodine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 Esotropia is a form of strabismus in which one or both eyes turns inward. The condition can be... more...

Related Diseases for Esotropia

Diseases related to Esotropia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 accommodative esotropia 34.1 TNNI3K PLAAT3 PHOX2A CHN1
2 abducens nerve disease 32.8 TNNI3K CYLC1 CHN1
3 suppression amblyopia 32.0 PLAAT3 PHOX2A
4 exotropia 31.8 TNNI3K SEMA7A ROBO3 PLAAT3 PHOX2A KIF21A
5 pathologic nystagmus 31.7 TFAP2A ROBO3 JRK CRYAA
6 anisometropia 31.4 PLAAT3 CYLC1
7 astigmatism 31.2 CYLC1 CRYAA ANKRD11
8 amblyopia 31.1 TFAP2A SOBP SLC9A6 PLAAT3 PHOX2A KIF21A
9 ptosis 30.9 TNNI3K PHOX2A KIF21A CRYAA ANKRD11
10 ametropic amblyopia 30.6 PHOX2A CYLC1
11 hypotropia 30.5 TNNI3K ROBO3 PLAAT3 PHOX2A KIF21A CHN1
12 congenital nystagmus 30.5 JRK CRYAA
13 hypertropia 30.5 TNNI3K SEMA7A ROBO3 PLAAT3 PHOX2A KIF21A
14 hypertelorism 30.4 TFAP2A COL11A1 ANKRD11
15 paralytic squint 30.3 SEMA7A PLAAT3 PHOX2A KIF21A CHN1
16 duane retraction syndrome 30.3 TNNI3K ROBO3 PHOX2A KIF21A CHN1
17 enophthalmos 30.3 TNNI3K TFAP2A PHOX2A
18 epicanthus 30.2 TFAP2A ANKRD11
19 strabismus 30.1 TNNI3K SOBP SLC9A6 SEMA7A ROBO3 PMM2
20 congenital ptosis 30.0 TNNI3K ROBO3 PHOX2A KIF21A CRYAA CHN1
21 ocular motility disease 29.7 TNNI3K ROBO3 PLAAT3 PHOX2A KIF21A JRK
22 monocular esotropia 12.6
23 alternating esotropia 12.4
24 blepharophimosis with ptosis, syndactyly, and short stature 12.1
25 hemifacial hyperplasia with strabismus 11.5
26 polymicrogyria 11.2
27 marshall syndrome 11.2
28 orofaciodigital syndrome iii 11.2
29 richieri-costa/guion-almeida syndrome 11.2
30 spinocerebellar ataxia, x-linked 3 11.2
31 bestrophinopathy, autosomal recessive 11.2
32 mental retardation, anterior maxillary protrusion, and strabismus 11.2
33 facial paresis, hereditary congenital, 3 11.2
34 mental retardation, autosomal recessive 36 11.2
35 jackson-weiss syndrome 11.1
36 skin creases, congenital symmetric circumferential, 1 11.1
37 retinoblastoma 11.1
38 neurodegeneration with brain iron accumulation 2a 11.1
39 coats disease 11.1
40 craniofrontonasal syndrome 11.1
41 incontinentia pigmenti 11.1
42 infantile cerebellar-retinal degeneration 11.1
43 xia-gibbs syndrome 11.1
44 autosomal dominant intellectual disability 49 11.1
45 iqsec2 11.1
46 ophn1 syndrome 11.1
47 mechanical strabismus 11.1
48 alternating exotropia 10.9
49 refractive error 10.9
50 farsightedness 10.7

Graphical network of the top 20 diseases related to Esotropia:



Diseases related to Esotropia

Symptoms & Phenotypes for Esotropia

GenomeRNAi Phenotypes related to Esotropia according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.7 SEMA7A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.7 ADAT3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.7 CRYAA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.7 MKRN3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.7 MKRN3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.7 ADAT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.7 SEMA7A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.7 SEMA7A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.7 CRYAA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.7 ADAT3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.7 ADAT3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 CRYAA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.7 ADAT3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.7 ROBO3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.7 MKRN3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 ADAT3 CRYAA MKRN3 ROBO3 SEMA7A
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.7 ADAT3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.7 CRYAA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.7 ADAT3
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.7 ADAT3

Drugs & Therapeutics for Esotropia

Drugs for Esotropia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2 Neurotransmitter Agents Phase 4
3 Cholinergic Agents Phase 4
4 Autonomic Agents Phase 4
5 Cathartics Phase 4
6 Gastrointestinal Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Nutrients Phase 4
9 Laxatives Phase 4
10 Ophthalmic Solutions Phase 4
11 Anti-Infective Agents, Local Phase 4
12
Echothiophate Iodide Phase 4 6736-03-4 10547
13 Micronutrients Phase 4
14 Trace Elements Phase 4
15 Cholinesterase Inhibitors Phase 4
16 cadexomer iodine Phase 4
17 Carboxymethylcellulose Sodium Phase 4
18 Pharmaceutical Solutions Phase 4
19
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
20
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
21
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
22
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
23 Acetylcholine Release Inhibitors Phase 3
24 Botulinum Toxins Phase 3
25 Anesthetics Phase 2, Phase 3
26 Central Nervous System Depressants Phase 2, Phase 3
27 Neuromuscular Agents Phase 3
28 abobotulinumtoxinA Phase 3
29 Botulinum Toxins, Type A Phase 3
30 Anesthetics, Local Phase 2, Phase 3
31 Epinephryl borate Phase 2, Phase 3
32
Lidocaine Approved, Vet_approved 137-58-6 3676
33
tannic acid Approved 1401-55-4
34
Dopamine Approved 51-61-6, 62-31-7 681
35
Methamphetamine Approved, Illicit 537-46-2 10836
36
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
37 Sympathomimetics
38 Central Nervous System Stimulants
39 Dopamine Agents
40 Dopamine Uptake Inhibitors
41 Adrenergic Agents

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
2 Surgery Associated to Intraoperative Botulinum Toxin A for Large Angle Horizontal Strabismus: a Pilot Study Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
3 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
4 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
5 Orthoptic Changes Following Photorefractive Keratectomy Completed NCT01279993 Phase 3
6 A Pragmatic, Randomized, Non-inferiority Trial Comparing the Effectiveness of Botulinum Toxin-based Treatment With Conventional Strabismus Surgery in Acquired Esotropia. Recruiting NCT03459092 Phase 3 Botulinum toxin type A
7 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
8 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
9 Amount of Surgery for Esotropia Under Topical Anesthesia Unknown status NCT00993174
10 Prescription of Full Optical Correction in Refractive Errors to Treat Esotropia in Children up to 3 Years Old Unknown status NCT02404324
11 Early Versus Delayed Surgery for Infantile Esotropia: A Clinical Evaluation of Sensory and Motor Outcomes Completed NCT01166503
12 Long-Term Outcomes in the Treatment of Infantile and Acquired Esotropia With Botulinum Toxin Completed NCT00746304
13 Congenital Esotropia Observational Study (CEOS) Completed NCT00000163
14 A Randomized Comparison of Bilateral Recession With Unilateral Recession-Resection as Surgery for Infantile Esotropia Completed NCT00304577
15 The Maximal Tolerable Reduction in Hyperopic Correction in Patients With Refractive Accommodative Esotropia: A 6-month Follow-up Study Completed NCT01179711
16 An Observational Study of Infantile, Acquired Non-accommodative, and Acquired Partially-accommodative Esotropia Completed NCT00310960
17 Strabismus Surgery and Driving Ability Completed NCT02570555
18 Augmented Medial Rectus Muscle Recession Versus Medial Rectus Recession With Posterior Scleral Fixation in Partially Accommodative Esotropia Completed NCT02413463
19 Glasses Versus Observation for Moderate Hyperopia in Young Children (HTS1) Completed NCT01515475
20 Bifocal Soft Contact Lenses - Do They Slow Progression of Myopia Relative to Single Vision Soft Contact Lenses in Children and Adolescents? Completed NCT00214487
21 An Observational Study of Optical Correction for Strabismic Amblyopia in Children 3 to <7 Years Old Completed NCT00669539
22 Symmetrical Versus Asymmetrical Inferior Oblique Muscle Weakening Surgery for Asymmetrical Inferior Oblique Overaction Recruiting NCT03507712
23 The Effect of Light Deprivation on Visual Functions in Adult Amblyopes Not yet recruiting NCT02799836
24 Botulinum Toxin Augmented Surgery Versus Conventional Surgery in the Management of Large Angle Infantile Esotropia Not yet recruiting NCT03266549
25 Improving Control of Alignment in Intermittent Esotropia Not yet recruiting NCT04199871

Search NIH Clinical Center for Esotropia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Echothiophate Iodide

Genetic Tests for Esotropia

Genetic tests related to Esotropia:

# Genetic test Affiliating Genes
1 Esotropia 29

Anatomical Context for Esotropia

MalaCards organs/tissues related to Esotropia:

40
Eye, Testes, Brain, Thyroid, Cortex, Skin, Bone

Publications for Esotropia

Articles related to Esotropia:

(show top 50) (show all 2978)
# Title Authors PMID Year
1
Risk factors associated with poor outcome after medial rectus resection for recurrent intermittent exotropia. 61
31741045 2020
2
Ophthalmic findings in neonates receiving sildenafil. 61
31916341 2020
3
Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles. 61
31848785 2020
4
Changes in ocular motility in Kabuki syndrome. 61
31740281 2020
5
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. 61
31782896 2020
6
Prevalence of Sagging Eye Syndrome in Adults with Binocular Diplopia. 61
31526795 2020
7
Phoria Adaptation: The Ghost in the Machine. 61
31986106 2020
8
Heavy eye syndrome precipitated by superotemporal Ahmed glaucoma valve implantation in a woman with axial high myopia. 61
31953024 2020
9
Comparison of techniques for correction of chin-down vertical abnormal head position associated with infantile nystagmus syndrome. 61
31953059 2020
10
When pediatric acute acquired comitant esotropia is not caused by a neurological disease. 61
31923623 2020
11
Why bilateral medial rectus recession fails? Factors associated with early repeated surgery. 61
31385144 2020
12
Factors affecting the motor outcome after corrective surgery for acquired comitant esotropia. 61
30360648 2020
13
Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings. 61
32029942 2020
14
One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review. 61
31929958 2020
15
Management of Divergence Insufficiency Esotropia. 61
31972031 2020
16
Inferior rectus belly transposition for residual esotropia after augmented superior rectus transposition and medial rectus recession in patients with chronic abducens nerve palsy: a case series. 61
32007605 2020
17
Severe reverse amblyopia with atropine penalization. 61
31953022 2020
18
The Danish Rural Eye Study: prevalence of strabismus among 3785 Danish adults - a population-based cross-sectional study. 61
31025814 2019
19
Seasonality of births in horizontal strabismus: comparison with birth seasonality in schizophrenia and other disease conditions. 61
30898179 2019
20
Brain abnormalities in infantile esotropia as predictor for consecutive exotropia. 61
31637944 2019
21
Cyclic strabismus: what measured angle of strabismus should guide surgery? 61
31746262 2019
22
Inferior oblique belly transposition for V pattern strabismus. 61
31847669 2019
23
Surgical outcomes of strabismus after iatrogenic ophthalmic artery occlusion caused by cosmetic filler injections. 61
31842812 2019
24
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61
31687266 2019
25
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. 61
31889465 2019
26
Lateral rectus dermoid cyst presenting as incomitant esotropia. 61
30691358 2019
27
Surgical Treatment of Sensory Cyclic Esotropia. 61
31833255 2019
28
Refractive change in children with accommodative esotropia. 61
31806647 2019
29
The prevalence of tropia, phoria and their types in a student population in Iran. 61
31868064 2019
30
Ocular alignment, media, and eyelid disorders in Down syndrome. 61
31830843 2019
31
Lateral rectus sag and recurrent esotropia in children. 61
31526858 2019
32
[Persistent mydriasis after botulinum toxin injection for infantile early onset esotropia]. 61
31208903 2019
33
The Relationship of Age and Other Baseline Factors to Outcome of Initial Surgery for Intermittent Exotropia. 61
31862447 2019
34
Reoperation in esotropic Duane retraction syndrome: Long-term motor outcome of superior rectus transposition. 61
31888377 2019
35
Superior cervical sympathetic ganglion block under ultrasound guidance promotes recovery of abducens nerve palsy caused by microvascular ischemia. 61
31541603 2019
36
Nasal loop myopexy as a primary procedure to correct exotropia hypotropia complex in high myopia. 61
31612771 2019
37
Topographical profiles of macula and optic nerve head in concomitant strabismus patients as measured using OCT and CSLO. 61
31754829 2019
38
Incidence of Strabismus and Amblyopia Among Children Initially Diagnosed With Pseudostrabismus Using the Optum Data Set. 61
31730842 2019
39
Strabismus Is Correlated with Gross Motor Function in Children with Spastic Cerebral Palsy. 61
31189336 2019
40
Role of Botulinum Toxin Type A in Cyclic Esotropia: A Long-Term Follow-up. 61
31743403 2019
41
A slippery slope. 61
30385270 2019
42
Uncovering homonymous visual field defects in candidates for pediatric epilepsy surgery. 61
31784289 2019
43
Clinical characteristics and surgical outcomes of adults with acute acquired comitant esotropia. 61
31549267 2019
44
Comparison of macular buckling and vitrectomy for the treatment of macular schisis and associated macular detachment in high myopia: a randomized clinical trial. 61
31736279 2019
45
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades. 61
31727115 2019
46
Long term motor and sensory outcome after surgery for infantile esotropia and risk factors for residual and consecutive deviations. 61
31739718 2019
47
Temporal transposition of the split medial rectus muscle when the medial rectus is the sole functioning rectus muscle. 61
31756436 2019
48
Diplopia after Excessive Smart Phone Usage. 61
31741678 2019
49
Severe Acquired Restrictive Strabismus Fixus in Patients with Trisomy 21. 61
31584357 2019
50
Factors Associated with the Prognosis after Operation in Children with Recurrent Intermittent Exotropia. 61
31583872 2019

Variations for Esotropia

ClinVar genetic disease variations for Esotropia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
2 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
3 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
4 46;XY;t(3;17)(p14.3;q24.3)dnTranslocation Likely pathogenic 267799
5 46;XY;t(4;14)(p15.32;q32.1)dnTranslocation Uncertain significance 267808
6 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862

Expression for Esotropia

Search GEO for disease gene expression data for Esotropia.

Pathways for Esotropia

GO Terms for Esotropia

Biological processes related to Esotropia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.33 TFAP2A SOBP COL11A1
2 axon extension GO:0048675 9.26 SLC9A6 SEMA7A
3 inner ear morphogenesis GO:0042472 9.13 TFAP2A SOBP COL11A1
4 oculomotor nerve formation GO:0021623 8.62 TFAP2A PHOX2A

Sources for Esotropia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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