MCID: EST005
MIFTS: 44

Esotropia

Categories: Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Esotropia

MalaCards integrated aliases for Esotropia:

Name: Esotropia 12 76 53 29 6 15 73
Convergence in Manifest Squint 12
Internal Strabismus 12
Crossed Eyes 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9840
ICD10 33 H50.0 H50.00
ICD9CM 35 378.0 378.00
MeSH 44 D004948
NCIt 50 C34596
UMLS 73 C0014877

Summaries for Esotropia

Disease Ontology : 12 Esotropia is a strabismus in which the eye turns inward toward the nose.

MalaCards based summary : Esotropia, also known as convergence in manifest squint, is related to accommodative esotropia and exotropia. An important gene associated with Esotropia is TFAP2A (Transcription Factor AP-2 Alpha). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are hearing/vestibular/ear and mortality/aging

Wikipedia : 76 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 118)
# Related Disease Score Top Affiliating Genes
1 accommodative esotropia 34.0 CHN1 COG8
2 exotropia 32.4 CHN1 ROBO3 TUBB3
3 enophthalmos 30.3 CHN1 TFAP2A
4 congenital ptosis 30.3 CHN1 TUBB3
5 anisometropia 30.3 CHN1 COG8 OPTN
6 strabismus 30.1 ADAT3 CHN1 COL11A1 SOBP TUBB3
7 hypotropia 29.9 CHN1 OPTN TUBB3
8 amblyopia 29.6 CHN1 OPTN SOBP TFAP2A TUBB3
9 alternating esotropia 12.1
10 monocular esotropia 12.1
11 blepharophimosis with ptosis, syndactyly, and short stature 11.6
12 abducens nerve disease 11.2
13 moebius syndrome 10.9
14 hemifacial hyperplasia with strabismus 10.8
15 marshall syndrome 10.8
16 orofaciodigital syndrome iii 10.8
17 richieri-costa/guion-almeida syndrome 10.8
18 spinocerebellar ataxia, x-linked 3 10.8
19 mental retardation, anterior maxillary protrusion, and strabismus 10.8
20 facial paresis, hereditary congenital, 3 10.8
21 mental retardation, autosomal recessive 36 10.8
22 jackson-weiss syndrome 10.8
23 neurodegeneration with brain iron accumulation 2a 10.8
24 coats disease 10.8
25 craniofrontonasal syndrome 10.8
26 incontinentia pigmenti 10.8
27 orbital disease 10.5 CHN1 TFAP2A
28 vitreous syneresis 10.5 COL11A1 OPTN
29 marcus gunn phenomenon 10.5 CHN1 TUBB3
30 lacrimal duct obstruction 10.4 OPTN TFAP2A
31 hypertropia 10.4 CHN1 TUBB3
32 deafness, autosomal dominant 28 10.4 CHN1 TUBB3
33 poland syndrome 10.3 CHN1 TUBB3
34 epicanthus 10.3 ANKRD11 TFAP2A
35 tukel syndrome 10.3 CHN1 ROBO3 TUBB3
36 paralytic squint 10.3 CHN1 TUBB3
37 ocular motility disease 10.3 CHN1 ROBO3 TUBB3
38 myopia 10.2
39 aging 10.2
40 primary angle-closure glaucoma 10.1 COL11A1 OPTN
41 refractive error 10.1
42 monofixation syndrome 10.0
43 cataract 10.0
44 ptosis 10.0
45 cerebritis 10.0
46 supranuclear ocular palsy 10.0
47 duane retraction syndrome 1 9.9
48 cerebral palsy 9.9
49 retinitis 9.9
50 down syndrome 9.8

Graphical network of the top 20 diseases related to Esotropia:



Diseases related to Esotropia

Symptoms & Phenotypes for Esotropia

MGI Mouse Phenotypes related to Esotropia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 ANKRD11 COL11A1 ROBO3 SOBP TFAP2A
2 mortality/aging MP:0010768 9.32 SURF1 TFAP2A TUBB3 UNC79 ANKRD11 CHN1

Drugs & Therapeutics for Esotropia

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Not Applicable 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Cholinergic Agents Phase 4,Not Applicable
4 Neuromuscular Agents Phase 4
5 Neurotransmitter Agents Phase 4,Not Applicable
6 onabotulinumtoxinA Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
8 Pharmaceutical Solutions Phase 4
9 Botulinum Toxins, Type A Phase 4
10 Botulinum Toxins Phase 4,Not Applicable
11
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
12
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
13
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
14 Central Nervous System Depressants Phase 2, Phase 3,Not Applicable
15 Anesthetics Phase 2, Phase 3,Not Applicable
16 Anesthetics, Local Phase 2, Phase 3
17 Epinephryl borate Phase 2, Phase 3
18
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
19
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
20 tannic acid Approved, Nutraceutical Not Applicable

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 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
2 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
3 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
4 Orthoptic Changes Following Photorefractive Keratectomy Completed NCT01279993 Phase 3
5 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
6 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
7 Botox Instead of Strabismus Surgery (BISS) Not yet recruiting NCT03459092 Phase 3 Botulinum toxin type A
8 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
9 Conservative Treatment of Esotropia in Children up to 3 Years Old Unknown status NCT02404324 Not Applicable
10 Surgery for Esotropia Under Topical Anesthesia Unknown status NCT00993174 Not Applicable
11 Long-Term Outcomes in the Treatment of Infantile and Acquired Esotropia With Botulinum Toxin Completed NCT00746304
12 Under-correction in Refractive Accommodative Esotropia Completed NCT01179711 Not Applicable
13 Early Versus Delayed Surgery for Infantile Esotropia Completed NCT01166503
14 An Observational Study of Infantile, Acquired Non-accommodative, and Acquired Partially-accommodative Esotropia Completed NCT00310960
15 Congenital Esotropia Observational Study (CEOS) Completed NCT00000163
16 Bilateral Recession or Unilateral Recession-Resection as Surgery for Infantile Esotropia Completed NCT00304577
17 Development of the Eye Motor System During the First 7 Months of Life in Infants With and Without a Family History of Cross-Eye Completed NCT00001143
18 Binocular Treatment of Amblyopia Before and After Strabismus Surgery Completed NCT01791946 Not Applicable
19 Outcome Following Phacoemulsification Versus Small Incision Cataract Surgery (SICS) Completed NCT00821223 Not Applicable
20 Bifocal Soft Contact Lenses and Their Effect on Myopia Progression in Children and Adolescents. Completed NCT00214487 Not Applicable
21 Comparison Between Augmented Recession and Posterior Scleral Fixation in Partially Accommodative Esotropia Recruiting NCT02413463 Not Applicable
22 Strabismus Surgery and Driving Ability Recruiting NCT02570555
23 IRIS Registry: Intelligent Research in Sight Registry Recruiting NCT02485847
24 Bilateral Lateral Rectus Recession Versus Unilateral Recess-Resect for Intermittent Exotropia Active, not recruiting NCT01032603 Not Applicable
25 Botulinum Toxin Augmented Surgery vs Conventional Surgery in the Management of Large Angle Infantile Esotropia Not yet recruiting NCT03266549 Not Applicable
26 The Effect of Light Deprivation on Visual Functions in Adult Amblyopes Not yet recruiting NCT02799836 Not Applicable

Search NIH Clinical Center for Esotropia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Eye, Brain, Testes, Pituitary, Retina, Thyroid

Publications for Esotropia

Articles related to Esotropia:

(show top 50) (show all 770)
# Title Authors Year
1
The difference of surgical outcomes between manifest exotropia and esotropia. ( 29922977 )
2018
2
Essential Infantile Esotropia: Potential Pathogenetic Role of Extended Subcortical Neuroplasticity. ( 29677359 )
2018
3
Accommodative Esotropia Treatment Plan Utilizing Simultaneous Strabismus Surgery and Photorefractive Keratectomy. ( 29339065 )
2018
4
The Effect of Prism Adaptation on the Angle of Deviation in Convergence Excess Esotropia and Possible Consequences for Surgical Planning. ( 29889586 )
2018
5
Long-term evolution of age-related distance esotropia. ( 29551605 )
2018
6
Objective ocular torsion outcomes after unilateral horizontal rectus surgery in infantile esotropia. ( 29860547 )
2018
7
Immediate Postoperative Alignment Following Bimedial Rectus Recession for Esotropia in Children Compared to Adults. ( 29913023 )
2018
8
Stereoacuity outcomes following surgical correction of the nonaccommodative component in partially accommodative esotropia. ( 29526713 )
2018
9
The relationship between abduction deficit and reoperation among patients with infantile esotropia. ( 29600183 )
2018
10
Anterior Segment Changes during Accommodation in Accommodative Esotropia. ( 29376230 )
2018
11
Monocular surgery to correct large-angle esotropia: a 10-year follow-up study. ( 29924192 )
2018
12
The effects of partial and full correction of refractive errors on sensorial and motor outcomes in children with refractive accommodative esotropia. ( 29549487 )
2018
13
The Preferred Postoperative Alignment in Infantile Esotropia. ( 29543976 )
2018
14
Tendon Elongation with Bovine Pericardium in Patients with Severe Esotropia after Decompression in Graves' Orbitopathy-efficacy and Long-term Stability. ( 29557700 )
2018
15
Reduction of Consecutive Esotropia Using Modified Contralateral Recession and Resection for Recurrent Intermittent Exotropia. ( 28991342 )
2018
16
Evaluation and surgical outcome of acquired nonaccommodative esotropia among older children. ( 29426440 )
2018
17
Amblyopia in High Accommodative Convergence/Accommodation Ratio Accommodative Esotropia. Influence of Bifocals on Treatment Outcome. ( 29729255 )
2018
18
Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome. ( 29714107 )
2018
19
Esotropia and Exotropia Preferred Practice PatternAr. ( 29108746 )
2018
20
Clinical Research on the Efficacy of Modified Surgery for Esotropia Fixus With High Myopia. ( 29709045 )
2018
21
Clinical study of the influence of preoperative wearing time on postoperative effects in children with partially accommodative esotropia. ( 29742698 )
2018
22
Spontaneous consecutive esotropia. ( 29497134 )
2018
23
The Effect of Botulinum Toxin Augmentation on Strabismus Surgery for Large-Angle InfantileA Esotropia. ( 29476725 )
2018
24
Accommodative esotropia: the state of the art. ( 29332227 )
2018
25
Factors influencing stereopsis in patients with both refractive accommodative esotropia and amblyopia. ( 29704131 )
2018
26
Medial and Lateral Rectus Muscle Insertion Distance and Width in Esotropia and Exotropia Patients. ( 28632404 )
2017
27
Evaluation and Management of Acute Acquired Comitant Esotropia in Children. ( 27726470 )
2017
28
Comparison of botulinum toxin with surgery for the treatment of acute-onset, comitant esotropia in children. ( 28057455 )
2017
29
Acute concomitant esotropia in children. ( 28574208 )
2017
30
Transient Esotropia in the Child: Case Report and Review of the Literature. ( 28559837 )
2017
31
Bimedial rectus muscle elongation versus bimedial rectus muscle recession for the surgical treatment of large-angle infantile esotropia. ( 29081649 )
2017
32
Y-Split Recession of the Medial Rectus Muscle as a Secondary and/or Unilateral Procedure in the Treatment of Esotropia with Distance/Near Disparity. ( 28804647 )
2017
33
Combined resection-recession versus combined recession-retroequatorial myopexy of medial rectus muscles for treatment of near-distance disparity Esotropia. ( 28652690 )
2017
34
Cortical Visual Connections via the Corpus Callosum are Asymmetrical in Human Infantile Esotropia. ( 29279026 )
2017
35
A 7-year-old girl with acute onset esotropia. ( 29479226 )
2017
36
Re: Whitman etA al.: Bifocals fail to improve stereopsis outcomes in high AC/A accommodative esotropia (Ophthalmology 2016;123:690-696). ( 27993269 )
2017
37
Outcomes after the surgery for acquired nonaccommodative esotropia. ( 28738831 )
2017
38
Clinical profiles and surgical outcomes of adult esotropia. ( 28774524 )
2017
39
Esotropia with an accommodative component after surgery for infantile esotropia compared to primary accommodative esotropia. ( 28104501 )
2017
40
Unilateral lateral rectus muscle advancement surgery based on one-fourth of the angle of consecutive esotropia. ( 29284428 )
2017
41
Management of idiopathic intracranial hypertension in an infant with bilateral congenital cataract and associated comitant sensory esotropia. ( 29044088 )
2017
42
Esotropia following botulinum toxin type A injection for facial wrinkles. ( 28682151 )
2017
43
Time and Factors Affecting the Direction of Re-drift in Essential Infantile Esotropia. ( 29131911 )
2017
44
A retrospective evaluation of bilateral medial rectus recession for management of accommodative esotropia according to prism-adapted motor response preoperatively. ( 28232011 )
2017
45
Stability and effects of muscle transplantation for very large angle esotropia: A study of 22 patients. ( 28724819 )
2017
46
Unilateral Recession-Resection Surgery for Infantile Esotropia: Survival of Motor Outcomes and Postoperative Drifts. ( 28488915 )
2017
47
The Use of Botulinum Toxin to Treat Infantile Esotropia: A Systematic Review With Meta-Analysis. ( 29059315 )
2017
48
Orbital magnetic resonance imaging is useful in age-related distance esotropia. ( 28601401 )
2017
49
Novel Eye Movement Disorders in Whipple's Disease-Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia. ( 28744253 )
2017
50
Outcome of early surgery in infantile esotropia: Our experience in tertiary care hospital. ( 28924312 )
2017

Variations for Esotropia

ClinVar genetic disease variations for Esotropia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
2 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
3 46;XY;t(3;17)(p14.3;q24.3)dn Translocation Likely pathogenic
4 46;XY;t(4;14)(p15.32;q32.1)dn Translocation Uncertain significance
5 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
6 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
7 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694

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 skeletal system morphogenesis GO:0048705 9.16 ANKRD11 COL11A1
2 sensory perception of sound GO:0007605 9.13 COL11A1 SOBP TFAP2A
3 inner ear morphogenesis GO:0042472 8.8 COL11A1 SOBP TFAP2A

Sources for Esotropia

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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