MCID: EST005
MIFTS: 42

Esotropia

Categories: 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
MeSH 43 D004948
NCIt 49 C34596
SNOMED-CT 67 16596007
ICD10 32 H50.0
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 Cholinergic 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 230)
# Related Disease Score Top Affiliating Genes
1 accommodative esotropia 34.3 PLAAT3 PHOX2A CHN1
2 abducens nerve disease 32.8 CYLC1 CHN1
3 exotropia 32.1 SEMA7A ROBO3 PLAAT3 PHOX2A KIF21A JRK
4 suppression amblyopia 31.9 PLAAT3 PHOX2A DSE
5 pathologic nystagmus 31.6 TFAP2A ROBO3 JRK CRYAA
6 anisometropia 31.3 PLAAT3 DSE CYLC1 CRYAA
7 ptosis 31.1 PHOX2A KIF21A CRYAA ANKRD11
8 astigmatism 31.1 DSE CYLC1 CRYAA ANKRD11
9 cycloplegia 30.9 DSE CYLC1
10 hypotropia 30.9 PLAAT3 PHOX2A KIF21A CHN1
11 amblyopia 30.9 TFAP2A SOBP SLC9A6 PLAAT3 PHOX2A KIF21A
12 hypertropia 30.7 SEMA7A ROBO3 PLAAT3 PHOX2A KIF21A
13 duane retraction syndrome 30.5 ROBO3 PHOX2A KIF21A CHN1
14 ametropic amblyopia 30.5 PHOX2A DSE CYLC1
15 paralytic squint 30.5 SEMA7A PHOX2A KIF21A CHN1
16 aniseikonia 30.4 PLAAT3 DSE
17 congenital ptosis 30.4 ROBO3 PHOX2A KIF21A CRYAA
18 hypertelorism 30.4 TFAP2A COL11A1 ANKRD11
19 enophthalmos 30.3 TFAP2A PHOX2A CRYAA
20 epicanthus 30.1 TFAP2A ANKRD11
21 ocular motility disease 29.9 ROBO3 PLAAT3 PHOX2A KIF21A JRK CRYAA
22 strabismus 29.8 SOBP SLC9A6 SEMA7A ROBO3 PMM2 PLAAT3
23 monocular esotropia 12.6
24 alternating esotropia 12.4
25 blepharophimosis with ptosis, syndactyly, and short stature 12.1
26 hemifacial hyperplasia with strabismus 11.5
27 spinocerebellar ataxia, x-linked 3 11.3
28 polymicrogyria 11.2
29 marshall syndrome 11.2
30 orofaciodigital syndrome iii 11.2
31 richieri-costa/guion-almeida syndrome 11.2
32 bestrophinopathy, autosomal recessive 11.2
33 mental retardation, anterior maxillary protrusion, and strabismus 11.2
34 facial paresis, hereditary congenital, 3 11.2
35 mental retardation, autosomal recessive 36 11.2
36 mechanical strabismus 11.1
37 jackson-weiss syndrome 11.1
38 skin creases, congenital symmetric circumferential, 1 11.1
39 retinoblastoma 11.1
40 neurodegeneration with brain iron accumulation 2a 11.1
41 coats disease 11.1
42 craniofrontonasal syndrome 11.1
43 incontinentia pigmenti 11.1
44 infantile cerebellar-retinal degeneration 11.1
45 xia-gibbs syndrome 11.1
46 autosomal dominant intellectual disability 49 11.1
47 iqsec2 11.1
48 ophn1 syndrome 11.1
49 alternating exotropia 10.9
50 refractive error 10.9

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 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.66 ADAT3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.66 MKRN3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.66 MKRN3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.66 ROBO3 SEMA7A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.66 SEMA7A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.66 SEMA7A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.66 CRYAA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.66 CRYAA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.66 ADAT3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.66 MKRN3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.66 ROBO3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.66 ADAT3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.66 CRYAA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.66 CRYAA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.66 SEMA7A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.66 CRYAA ROBO3 SEMA7A
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.66 ADAT3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.66 CRYAA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.66 ADAT3

Drugs & Therapeutics for Esotropia

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2 Cholinergic Agents Phase 4
3 Neurotransmitter Agents Phase 4
4 Laxatives Phase 4
5 Cathartics Phase 4
6
Echothiophate Iodide Phase 4 6736-03-4 10547
7 Carboxymethylcellulose Sodium Phase 4
8 Cholinesterase Inhibitors Phase 4
9 Gastrointestinal Agents Phase 4
10 Ophthalmic Solutions Phase 4
11 Pharmaceutical Solutions Phase 4
12
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
13
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
14
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
15
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
16 Botulinum Toxins Phase 3
17 Anesthetics Phase 2, Phase 3
18 abobotulinumtoxinA Phase 3
19 Botulinum Toxins, Type A Phase 3
20 Epinephryl borate Phase 2, Phase 3
21 Anesthetics, Local Phase 2, Phase 3
22
Lidocaine Approved, Vet_approved 137-58-6 3676
23
tannic acid Approved 1401-55-4
24
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
25
Nicotine Approved 54-11-5 942 89594

Interventional clinical trials:

(show all 31)
# 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 The Effect of Slanted Recession of Horizontal Muscle on Horizontal Strabismus With Abnormal Accommodative Convergence /Accommodation Ratio (AC/A) Unknown status NCT03555045 Phase 2, Phase 3
4 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
5 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
6 Orthoptic Changes Following Photorefractive Keratectomy Completed NCT01279993 Phase 3
7 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
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 Changes in Refractive Error in Patients With Both Partially Refractive Esotropia and Amblyopia Completed NCT04429659
17 An Observational Study of Infantile, Acquired Non-accommodative, and Acquired Partially-accommodative Esotropia Completed NCT00310960
18 Strabismus Surgery and Driving Ability Completed NCT02570555
19 Augmented Medial Rectus Muscle Recession Versus Medial Rectus Recession With Posterior Scleral Fixation in Partially Accommodative Esotropia Completed NCT02413463
20 Glasses Versus Observation for Moderate Hyperopia in Young Children (HTS1) Completed NCT01515475
21 The Flipped Classroom Approach to Teaching Horizontal Strabismus in Ophthalmology Residency: A Multi-Centered Randomized Controlled Study Completed NCT04381676
22 Bifocal Soft Contact Lenses - Do They Slow Progression of Myopia Relative to Single Vision Soft Contact Lenses in Children and Adolescents? Completed NCT00214487
23 An Observational Study of Optical Correction for Strabismic Amblyopia in Children 3 to <7 Years Old Completed NCT00669539
24 Changes in Range of Ocular Motility Following Horizontal Rectus Muscle Surgery in Concomitant Strabismus; a Quantitate Measurements Using Lees Screen Recruiting NCT04213053
25 Bilateral Lateral Rectus Recession Using Standard Tables Versus Bilateral Lateral Rectus Recession Using Modified Reduced Numbers in Intermittent Exotropia in Children Less Than 6 Years Old Recruiting NCT04308538
26 Symmetrical Versus Asymmetrical Inferior Oblique Muscle Weakening Surgery for Asymmetrical Inferior Oblique Overaction Recruiting NCT03507712
27 Effect of Strabismus Surgery on Macular and Subfoveal Choroidal Thickness Assessed by Spectral Domain Optical Coherence Tomography Enrolling by invitation NCT04285177
28 The Effect of Light Deprivation on Visual Functions in Adult Amblyopes Not yet recruiting NCT02799836
29 Botulinum Toxin Augmented Surgery Versus Conventional Surgery in the Management of Large Angle Infantile Esotropia Not yet recruiting NCT03266549
30 LR Resection Versus Plication in Esotropia Not yet recruiting NCT04213768
31 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 3023)
# Title Authors PMID Year
1
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors. 61
32307586 2020
2
Double-bellied medial rectus muscle in a patient with Down syndrome and congenital esotropia. 61
32279100 2020
3
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping. 61
32298796 2020
4
Intraocular pressure elevation associated with blood in Schlemm's canal after strabismus surgery. 61
32195447 2020
5
Effect of unilateral vertical transposition of the horizontal rectus muscles on vertical strabismus. 61
32551994 2020
6
Pseudostrabismus in the First Year of Life and the Subsequent Diagnosis of Strabismus. 61
32533950 2020
7
One-Month Postoperative Horizontal Strabismus Surgery Outcomes Using Adjustable and Nonadjustable Sutures. 61
32511075 2020
8
Analysis of the potential impact of strabismus with and without amblyopia on visual-perceptual and visual-motor skills evaluated using TVPS-3 and VMI-6 tests. 61
32535162 2020
9
Ophthalmic findings in neonates receiving sildenafil. 61
31916341 2020
10
Differences of a Single Injection of Botulinum Toxin A between Infantile and Nonaccommodative Esotropia. 61
32511074 2020
11
Association of pseudo-exotropia with true esotropia in cicatricial retinopathy of prematurity. 61
32317477 2020
12
Current trends of strabismus surgery in a tertiary hospital. 61
32063418 2020
13
Congenital Zika Syndrome: Surgical and Visual Outcomes After Surgery for Infantile Strabismus. 61
32453850 2020
14
Standard coronal orbital magnetic resonance imaging is an effective technique for diagnosing sagging eye syndrome. 61
32377825 2020
15
Inferior rectus displacement in heavy eye syndrome and sagging eye syndrome. 61
32095879 2020
16
Risk factors for spontaneous consecutive exotropia in children with refractive and nonrefractive accommodative esotropia. 61
32108919 2020
17
Comparison of Techniques for Correction of Chin-down Vertical Abnormal Head Position Associated with Infantile Nystagmus Syndrome. 61
31953059 2020
18
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 2020
19
Long-term refractive outcomes in children with early diagnosis of moderate to high hyperopia. 61
32316817 2020
20
Clinical Features of Duane Retraction Syndrome: A New Classification. 61
32233150 2020
21
Heavy eye syndrome precipitated by superotemporal Ahmed glaucoma valve implantation in a woman with axial high myopia. 61
31953024 2020
22
Influence of prenatal environment and birth parameters on amblyopia, strabismus, and anisometropia. 61
32151573 2020
23
Strabismus Surgery of Consecutive Exotropia. 61
32330980 2020
24
Motor and Sensory Outcomes of Infantile Exotropia: A 10-Year Study (2008-2017). 61
32233148 2020
25
The Relationship of Age and Other Baseline Factors to Outcome of Initial Surgery for Intermittent Exotropia. 61
31862447 2020
26
Convergence excess consecutive esotropia associated with 0.01% atropine eye drops usage in patients operated for intermittent exotropia. 61
32174596 2020
27
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
28
Severe reverse amblyopia with atropine penalization. 61
31953022 2020
29
Contributions to the study of spinocerebellar ataxia type 38 (SCA38). 61
32314013 2020
30
Heavy Eye Syndrome Mimicking Abducens Nerve Palsies. 61
32345394 2020
31
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. 61
31302631 2020
32
Relationship between stereopsis outcome and timing of surgical alignment in infantile esotropia. 61
32224285 2020
33
Botulinum toxin for the treatment of cyclic esotropia in a child with Chiari type I malformation. 61
32275952 2020
34
Clinical Manifestations of Delayed-onset Consecutive Esotropia after Surgical Correction of Intermittent Exotropia. 61
32233145 2020
35
Inferior oblique belly transposition for V pattern strabismus. 61
31847669 2020
36
Incidence of Strabismus and Amblyopia Among Children Initially Diagnosed With Pseudostrabismus Using the Optum Data Set. 61
31730842 2020
37
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. 61
31889465 2020
38
[Morphological observation on the anterior ciliary vessels in the horizontal rectus muscles of patients with concomitant horizontal strabismus]. 61
32187948 2020
39
Topographical profiles of macula and optic nerve head in concomitant strabismus patients as measured using OCT and CSLO. 61
31754829 2020
40
Uncovering homonymous visual field defects in candidates for pediatric epilepsy surgery. 61
31784289 2020
41
Esotropia Outcomes and the Influence of Delay to Wearing Full Hypermetropic Correction. 61
32203591 2020
42
Unilateral Abducens Nerve Palsy Following Perinatal Stroke of the Middle Cerebral Artery. 61
32176807 2020
43
Prism treatment of acute acquired concomitant esotropia precipitated by visual confusion. 61
32301677 2020
44
Esotropia and vertical gaze palsy in a patient with an acute thalamic infarct. 61
32239999 2020
45
[The surgical effect of secondary esotropia with diplopia after orbital decompression for thyroid-associated ophthalmopathy]. 61
32187946 2020
46
Ocular alignment, media, and eyelid disorders in Down syndrome. 61
31830843 2020
47
The prevalence of tropia, phoria and their types in a student population in Iran. 61
31868064 2020
48
A Comparative Study of Prism Adaptation and the Augmented Surgery Formula in the Management of Acquired Comitant Esotropia. 61
32203595 2020
49
The Adnexal Phenotype of Sagging Eye Syndrome. 61
32118843 2020
50
Prevalence of Strabismus and Its Impact on Vision-Related Quality of Life: Results from the German Population-Based Gutenberg Health Study. 61
32312635 2020

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 inner ear morphogenesis GO:0042472 9.33 TFAP2A SOBP COL11A1
2 axon extension GO:0048675 9.26 SLC9A6 SEMA7A
3 sensory perception of sound GO:0007605 9.26 TFAP2A SOBP GET1 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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