MCID: STR020
MIFTS: 56

Strabismus

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Strabismus

MalaCards integrated aliases for Strabismus:

Name: Strabismus 57 12 74 54 6 15 71
Strabismus, Susceptibility to, 1 57 13
Susceptibility to Strabismus 29 6
Strabismus, Susceptibility to 57
Strabismus 1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
familial, but no simple mendelian inheritance established


Classifications:



External Ids:

Disease Ontology 12 DOID:540
OMIM® 57 185100
ICD9CM 34 378.7
SNOMED-CT 67 194125000
ICD10 32 H50.8 H50.9
MedGen 41 C1861449
UMLS 71 C0029831 C0038379

Summaries for Strabismus

OMIM® : 57 Strabismus, a misalignment of the eyes also referred to as 'squint,' is one of the most common ocular disorders in humans, affecting 1 to 4% of the population. It is frequently associated with amblyopia (uniocular visual neglect) (Parikh et al., 2003). Strabismus is also a feature of several syndromes, including congenital fibrosis of extraocular muscles (see, e.g., CFEOM1; 135700), Duane retraction syndrome (126800), and chronic progressive external ophthalmoplegia with myopathy (530000). (185100) (Updated 05-Mar-2021)

MalaCards based summary : Strabismus, also known as strabismus, susceptibility to, 1, is related to pathologic nystagmus and alacrima, achalasia, and mental retardation syndrome, and has symptoms including ophthalmoplegia, spasm of conjugate gaze and anomalies of divergence. An important gene associated with Strabismus is TYR (Tyrosinase), and among its related pathways/superpathways is Integration of energy metabolism. The drugs Fluorometholone and Moxifloxacin have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and cortex, and related phenotypes are microtropia and behavior/neurological

Disease Ontology : 12 A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.

Wikipedia : 74 Strabismus is a condition in which the eyes do not properly align with each other when looking at an... more...

Related Diseases for Strabismus

Diseases in the Strabismus family:

Rare Disorder with Strabismus

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

(show top 50) (show all 686)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 31.8 TYR RAP1GAP2 GNB1 CACNA1A
2 alacrima, achalasia, and mental retardation syndrome 30.7 STXBP1 SLC2A1 POGZ MPP4 MED13L GNB1
3 disease of mental health 30.4 STXBP1 SLC2A1 POGZ PCDH19 NALCN MPP4
4 microcephaly 30.3 STXBP1 SLC2A1 RAP1GAP2 POGZ NT5M GNB1
5 choreatic disease 30.1 SLC2A1 FOXG1 CACNA1A
6 autism 30.1 TMCO1 STXBP1 POGZ PCDH19 NT5M FOXG1
7 periventricular nodular heterotopia 30.0 PCDH19 FOXG1 ADGRG1
8 mechanical strabismus 11.7
9 exotropia 11.4
10 mental retardation, anterior maxillary protrusion, and strabismus 11.4
11 esotropia 11.4
12 paralytic squint 11.4
13 hemifacial hyperplasia with strabismus 11.4
14 ptosis, strabismus, and ectopic pupils 11.3
15 amblyopia 11.2
16 mehes syndrome 11.2
17 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.1
18 white-sutton syndrome 11.1
19 crouzon syndrome 11.0
20 fourth cranial nerve palsy, familial congenital 11.0
21 monocular esotropia 11.0
22 suppression amblyopia 11.0
23 retinoblastoma 11.0
24 krauss herman holmes syndrome 11.0
25 syndromic disorder with strabismus 11.0
26 alternating exotropia 11.0
27 farsightedness 11.0
28 hypertropia 11.0
29 tukel syndrome 11.0
30 arthrogryposis, distal, type 5 10.9
31 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
32 corneal dystrophy, congenital stromal 10.9
33 cortical dysplasia, complex, with other brain malformations 1 10.9
34 brown syndrome 10.9
35 mental retardation, autosomal recessive 36 10.9
36 hypotropia 10.9
37 abducens nerve disease 10.9
38 fibrosis of extraocular muscles, congenital, 2 10.9
39 retinoschisis 1, x-linked, juvenile 10.9
40 arthrogryposis multiplex congenita 5 10.9
41 ocular albinism 10.9
42 3mc syndrome 10.9
43 mcpherson robertson cammarano syndrome 10.9
44 microdontia hypodontia short stature 10.9
45 singh chhaparwal dhanda syndrome 10.9
46 duane retraction syndrome 10.9
47 brachydactyly-nystagmus-cerebellar ataxia 10.8
48 albinism, oculocutaneous, type vi 10.8
49 kaufman oculocerebrofacial syndrome 10.8
50 marinesco-sjogren syndrome 10.8

Graphical network of the top 20 diseases related to Strabismus:



Diseases related to Strabismus

Symptoms & Phenotypes for Strabismus

Human phenotypes related to Strabismus:

31
# Description HPO Frequency HPO Source Accession
1 microtropia 31 HP:0031724

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Eyes:
strabismus
microtropia
cyclic strabismus (periodic esotrophia)

Clinical features from OMIM®:

185100 (Updated 05-Mar-2021)

UMLS symptoms related to Strabismus:


ophthalmoplegia, spasm of conjugate gaze, anomalies of divergence

MGI Mouse Phenotypes related to Strabismus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ADGRG1 CACNA1A DHX30 FOXG1 GNB1 NALCN
2 embryo MP:0005380 9.61 DHX30 FOXG1 GNB1 NALCN SLC2A1 STXBP1
3 nervous system MP:0003631 9.5 ADGRG1 CACNA1A DHX30 FOXG1 GNB1 MPP4

Drugs & Therapeutics for Strabismus

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
2
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
3
Rimexolone Approved Phase 4 49697-38-3 39507
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
7
Povidone-iodine Approved Phase 4 25655-41-8
8
Iodine Approved, Investigational Phase 4 7553-56-2 807
9
Povidone Approved Phase 4 9003-39-8 131751496
10
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
11
tannic acid Approved Phase 4 1401-55-4
12
Desflurane Approved Phase 4 57041-67-5 42113
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
16
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
17
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
18
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
19
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
20
Cadexomer iodine Experimental Phase 4 94820-09-4
21 Anti-Allergic Agents Phase 4
22 Norgestimate, ethinyl estradiol drug combination Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Hypnotics and Sedatives Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Neurotransmitter Agents Phase 4
27 Analgesics Phase 4
28 Adrenergic Agents Phase 4
29 Pharmaceutical Solutions Phase 4
30 Adrenergic Agonists Phase 4
31 GABA Modulators Phase 4
32 Psychotropic Drugs Phase 4
33 Anesthetics, Intravenous Phase 4
34 Anti-Anxiety Agents Phase 4
35 Anesthetics, General Phase 4
36 abobotulinumtoxinA Phase 4
37 Botulinum Toxins, Type A Phase 4
38 Botulinum Toxins Phase 4
39 Cholinergic Agents Phase 4
40 Ophthalmic Solutions Phase 4
41 Anti-Infective Agents, Local Phase 4
42 Anesthetics, Inhalation Phase 4
43 Anesthetics, Dissociative Phase 4
44 Excitatory Amino Acid Antagonists Phase 4
45 Anesthetics Phase 4
46 Anesthetics, Local Phase 4
47
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
48
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
49
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
50
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 Clinical Study on the Effects of Propofol for Treatment on Emergence Agitation After Sevoflurane Anesthesia in Pediatric Strabismus Surgery Unknown status NCT02738814 Phase 4 propofol
2 Ocular-hypertensive Response to Topical Steroids in Children After Bilateral Strabismus Surgery (Topical Rimexolone Versus Topical Dexamethasone and Topical Fluorometholone) Completed NCT02816905 Phase 4 0.1 % Dexamethasone;0.1% Fluorometholone;1% Rimexolone
3 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
4 Prospective, Randomized, Double-blind Comparison of 5 % Against 1.25 % Povidone-iodine Solution as Preoperative Antisepsis for Strabismus Surgery in Young Children Completed NCT00461656 Phase 4 Preoperative conjunctival irrigation with 5% or 1.25% PI
5 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex in Strabismus Surgery Completed NCT02379546 Phase 4 Desflurane
6 The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. Completed NCT03349515 Phase 4 Provodine-Iodine Solution;Group B will receive three drops in each eye of ophthalmic balanced salt solution.
7 Intranasal Dexmedetomidine Versus Intranasal Midazolam-ketamine Combination for Premedication of Pediatric Patients Undergoing Strabismus Surgery Completed NCT02072083 Phase 4 Dexmedetomidine;Ketamine
8 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
9 The Effect of Penehyclidine on Postoperative Nausea and Vomiting After Strabismus Surgery Completed NCT04054479 Phase 4 Penehyclidine;normal saline
10 Dexmedetomidine Versus Midazolam Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
11 Comparative Study Between Combined General Anesthesia With Peribulbar Block Versus Traditional General Anesthesia in Patients Undergoing Strabismus Surgery Recruiting NCT04549844 Phase 4 Bupivacaine
12 Comparison of Medial Rectus Resection and Plication in Exotropic Patients Unknown status NCT03768362 Phase 2, Phase 3
13 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
14 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
15 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
16 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
17 A Multicenter, Randomized, Evaluator-masked, Parallel-group, Non-treatment-controlled Study Followed by an Open-label Study to Evaluate Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus Completed NCT01584843 Phase 3 GSK1358820
18 Amblyopia Treatment Study Completed NCT00001864 Phase 3 Atropine
19 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
20 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
21 Prospective, Double-blind Study Comparing Palonosetron and Dexamethasone in the Prophylaxis of Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery Recruiting NCT04060771 Phase 3 Palonosetron;Dexamethasone
22 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Unknown status NCT03135938 Phase 1, Phase 2
23 phase2 Study of Prevention of Complications of Strabismus Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
24 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Unknown status NCT00917982 Phase 1
25 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
26 Reliability and Reproducibility of Automated Angular Measurement in Strabismus Unknown status NCT03596138
27 The Use of Interactive Binocular Treatment (I-BiT) for the Management of Anisometropic, Strabismic and Mixed Amblyopia in Children Aged 3.5 - 12 Years Unknown status NCT02810847
28 Dexamethasone (Sterodex) Versus Loteprendol (Lotemax) Eye Drops Following Strabismus Surgery Unknown status NCT02825186 Loteprendol etabonate 0.5%;Dexamethasone 0.1%
29 Comparison of Propofol 1mg/kg and Propofol 0.5mg/kg for Prevention of Emergence Agitation in Children Undergoing Strabismus Surgery During Sevoflurane Anesthesia Unknown status NCT02152787 Injection of propofol 1.0mg/kg;propofol 0.5mg/kg;normal saline
30 The Effect of Remifentanil Infusion During Emergence on the Incidence of Emergence Delirium After Sevoflurane Anesthesia in Pediatric Strabismus Surgery Unknown status NCT02108795 Remifentanil;Placebo
31 A Randomized Controlled Trial to Compare Pain Medications in Children Undergoing Strabismus Surgery Unknown status NCT02789969 Hydromorphone;Fentanyl
32 The Role of Gabapentin Oral Solution in Decreasing Desflurane Associated Emergence Agitation and Delirium in Children After Strabismus Surgery: A Prospective Randomized Double-blind Study Unknown status NCT03347916 Strawberry juice as (placebo);Gabapentin Oral Solution [Neurontin]
33 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at All Ages Unknown status NCT02113709
34 Does Anxiety in Children on the Day of Surgery Impact Compliance in the Ophthalmology Clinic? Unknown status NCT02704442
35 Vision in Children Born to Opioid-dependent Methadone-maintained Mothers Unknown status NCT03603301
36 The Analysis of Ocular Deviations Between Dominant and Non-dominant Eye Using Video-oculography (VOG) in Intermittent Exotropia Unknown status NCT03641040
37 A Randomized Clinical Trial of Observation Versus Occlusion Therapy for Intermittent Exotropia Completed NCT01032330
38 Strabismus Measurements Using Automated 3D Video Oculography Completed NCT02228070
39 Comparative Study on the Effects of Capacities of Midazolam on Delirium After Sevoflurane Anesthesia in Pediatric Strabismus Surgery : a Randomized Double- Blinded Trial Completed NCT01680471 Midazolam 0.03mg/kg;Midazolam 0.05mg/kg;Placebo
40 Effect of Neuromuscular Blockade on the Oculomotor by Not Squinting Child Completed NCT02360969
41 Multimodal Physician Intervention to Detect Amblyopia (Recruiting Title "Equipping Primary Care Physicians to Improve Care for Children") Completed NCT01109459
42 The Efficacy of a Visual Screening Program to Reduce Later Amblyopia and Untreated Refractive Errors Completed NCT02458846
43 A Randomized Comparison of Bilateral Recession With Unilateral Recession-Resection as Surgery for Infantile Esotropia Completed NCT00304577
44 The Correlation Between Anesthetic Depth and the Incidence of Emergence Agitation in Children Undergoing Strabismus Surgery Completed NCT02521259
45 Exercise Interventions of Eye Muscles Post Strabismus Surgery Completed NCT04303832
46 Does Using Laryngeal Mask Airway (LMA) Instead of an Endotracheal Tube (ET Tube) Affect the Incidence of Postoperative Vomiting in Children Undergoing Strabismus Correction? - An Observational Study Completed NCT00338559
47 Postoperative Nausea and Vomiting After Paediatric Strabismus Surgery: a Study of Perioperative Modifiable Risk Factors Completed NCT03806400
48 Postoperative Subtenons Anesthesia for Postoperative Pain in Pediatric Strabismus Surgery Completed NCT01812044 subtenons anesthetic - preservative-free bupivacaine 0.75%;topical anesthetic - 0.5 cc of lidocaine 3.5% ophthalmic gel;topical control - 0.5 cc of Hypromellose 0.3% gel;subtenons control - 0.5 cc of Normal Saline
49 Strabismus Surgery and Driving Ability Completed NCT02570555
50 Hydroxyzine Dihydrochloride Premedication is a Necessity for Pediatric Patients Undergoing Strabismus Surgery; An Observational Clinical Trial Controlled With Midazolam Completed NCT03806270 Midazolam;Hydroxyzine Dihydrochloride

Search NIH Clinical Center for Strabismus

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Botulinum Toxin Type A
Demecarium
demecarium bromide

Genetic Tests for Strabismus

Genetic tests related to Strabismus:

# Genetic test Affiliating Genes
1 Susceptibility to Strabismus 29

Anatomical Context for Strabismus

MalaCards organs/tissues related to Strabismus:

40
Eye, Thyroid, Cortex, Brain, Retina, Bone, Heart

Publications for Strabismus

Articles related to Strabismus:

(show top 50) (show all 11676)
# Title Authors PMID Year
1
The genetics of strabismus. 61 57
15342692 2004
2
A strabismus susceptibility locus on chromosome 7p. 61 57
14519848 2003
3
Genetics of isolated and syndromic strabismus: facts and perspectives. 57 61
12221494 2002
4
The heritability of strabismus. 61 57
7953247 1994
5
Genetic analysis of human visual parameters in populations with varying incidences of strabismus. 61 57
4424621 1974
6
Cyclic strabismus--a case study. 57 61
4706089 1973
7
[On the heredity of strabismus concomitans]. 57 61
5624276 1967
8
Inheritance of congenital esotropia. 57
3590483 1986
9
Heredity in microtropia. 57
5783746 1969
10
Clock-mechanism esotropia in children. Alternate-day squint. 57
4967500 1968
11
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 61 54
19604113 2009
12
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 54 61
18512229 2008
13
Strabismus in unicoronal synostosis: ipsilateral or contralateral? 54 61
17538304 2007
14
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 61 54
17251833 2007
15
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 54 61
17070479 2006
16
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 61 54
12515581 2003
17
Molecular cloning and characterization of Strabismus 2 (STB2). 54 61
11956595 2002
18
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 54 61
11793467 2002
19
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. 54 61
11709546 2001
20
Ocular albinism type 1: more than meets the eye. 61 54
11549106 2001
21
Mucolipidosis type IV. 61 54
11461186 2001
22
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. 54 61
11013137 2000
23
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 54 61
11092754 2000
24
Identification of the gene causing mucolipidosis type IV. 61 54
10973263 2000
25
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 61 54
10406670 1999
26
The thyrotropin receptor in thyroid eye disease. 61 54
9623732 1998
27
Strabismus in Williams syndrome. 54 61
7503839 1995
28
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 54 61
7795590 1995
29
Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint's symptoms. 61
33309491 2021
30
Dysthyroid optic neuropathy: evaluation and management. 61
32729049 2021
31
Visual function subtyping in children with early-onset cerebral visual impairment. 61
33111315 2021
32
Physician-Perceived Impact of Thyroid Eye Disease on Patient Quality of Life in the United States. 61
33196932 2021
33
Presentation, surgery and 1-year outcomes of childhood cataract surgery in Tanzania. 61
32522793 2021
34
Accommodation changes after strabismus surgery due to anterior ciliary vessel disruption. 61
32845371 2021
35
Penehyclidine mitigates postoperative nausea and vomiting and intraoperative oculocardiac reflex in patients undergoing strabismus surgery: a prospective, randomized, double-blind comparison. 61
33581727 2021
36
Integrated Intraoperative Optical Coherence Tomography in Strabismus Surgery. 61
33592620 2021
37
Divergence bias in Hess compared to Harms screen strabismus testing. 61
33591220 2021
38
Gender authorship of articles in pediatric ophthalmology and strabismus between 2002 and 2018. 61
33608637 2021
39
Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state. 61
32533628 2021
40
Clinical features of strabismus in patients with congenital optic disc anomaly. 61
33596619 2021
41
Motor skills in children affected by strabismus. 61
32350454 2021
42
Palmitoylethanolamide (PEA) reduces postoperative adhesions after experimental strabismus surgery in rabbits by suppressing canonical and non-canonical TGFβ signaling through PPARα. 61
33385371 2021
43
Restrictive strabismus and diplopia after conjunctivodacryocystorhinostomy with Jones tube. 61
33546913 2021
44
Definition of successful outcomes after surgery for each type of strabismus: a Delphi study. 61
33607273 2021
45
Publication modifiers of abstracts submitted to the American Association of Pediatric Ophthalmology and Strabismus Annual Meeting. 61
32350450 2021
46
Ocular Phenotype Associated with DYRK1A Variants. 61
33562844 2021
47
Atypical Noninfectious Surgically Induced Necrotizing Scleritis in a Child. 61
33544632 2021
48
A randomized trial evaluating efficacy of overminus lenses combined with prism in the children with intermittent exotropia. 61
33549081 2021
49
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. 61
33156547 2021
50
Successes and shortfalls of community Plusoptix photoscreening: results from the iSee study in Southwestern Ontario. 61
32891567 2021

Variations for Strabismus

ClinVar genetic disease variations for Strabismus:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic 218934
2 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) SNV Pathogenic 224712 rs869312822 1:1737953-1737953 1:1806514-1806514
3 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=) SNV Pathogenic 222073 rs869312873 13:101742197-101742197 13:101089846-101089846
4 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Pathogenic 523251 15:23810397-29213787
5 NT5M GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 17:16936603-18184130
6 RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073
7 MPP4 NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) SNV Pathogenic 375383 rs1057519443 2:202539978-202539978 2:201675255-201675255
8 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg) SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
9 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) Duplication Pathogenic 206353 rs758946412 X:99662504-99662505 X:100407506-100407507
10 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
11 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs) Deletion Pathogenic 523512 rs1555247805 12:116446247-116446247 12:116008442-116008442
12 ADGRG1 NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) Duplication Pathogenic 544681 rs1567815105 16:57694706-57694707 16:57660794-57660795
13 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
14 SLC2A1 NM_006516.4(SLC2A1):c.732_735GAAG[1] (p.Glu246fs) Microsatellite Pathogenic 812757 rs1570592604 1:43395392-43395395 1:42929721-42929724
15 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 5:138525416-138537243
16 FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV Pathogenic 453289 rs267606826 14:29237109-29237109 14:28767903-28767903
17 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
18 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
19 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
20 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
21 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140
22 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
23 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser) SNV Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
24 ADAMTS15 Deletion Likely pathogenic 812956 11:114433313-131230466
25 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu) SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
26 CACNA1A NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) SNV Likely pathogenic 523409 rs1555736565 19:13341005-13341005 19:13230191-13230191
27 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) SNV Likely pathogenic 598952 rs185476065 3:49137655-49137655 3:49100222-49100222
28 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) SNV Likely pathogenic 598953 rs1172486173 3:49137039-49137039 3:49099606-49099606
29 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404
30 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940
31 SOX5 NM_006940.6(SOX5):c.482-2A>C SNV Likely pathogenic 374026 rs1057518845 12:23908660-23908660 12:23755726-23755726
32 FOXP1 NM_032682.6(FOXP1):c.1396C>G (p.Pro466Ala) SNV Likely pathogenic 374144 rs1057518926 3:71026826-71026826 3:70977675-70977675
33 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
34 SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs) Duplication Likely pathogenic 183277 rs730882198 13:36888396-36888397 13:36314259-36314260
35 DMBX1 NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) SNV Likely pathogenic 183286 rs730882203 1:46976625-46976625 1:46510953-46510953
36 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr) SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
37 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg) SNV Uncertain significance 184278 rs140653372 17:29552254-29552254 17:31225236-31225236
38 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
39 RANBP9 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949
40 LMBR1 GRCh37/hg19 7q36.3(chr7:156333296-156556779) copy number gain Uncertain significance 523286 7:156333296-156556779
41 LMBR1 GRCh37/hg19 7q36.3(chr7:156656444-156866708) copy number gain Uncertain significance 523287 7:156656444-156866708
42 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
43 OLFM3 NM_058170.4(OLFM3):c.372+3A>G SNV Uncertain significance 983485 1:102296225-102296225 1:101830669-101830669
44 AHCTF1 NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter) SNV Uncertain significance 619032 rs1558223606 1:247025323-247025323 1:246862021-246862021
45 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798
46 ASXL3 NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) SNV Uncertain significance 917519 18:31318722-31318722 18:33738758-33738758
47 COL1A2 NM_000089.4(COL1A2):c.280-7T>C SNV Uncertain significance 978557 7:94033861-94033861 7:94404549-94404549
48 FBN2 NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) SNV Uncertain significance 978558 5:127610307-127610307 5:128274615-128274615
49 SMARCA4 NM_001128849.2(SMARCA4):c.1358C>T (p.Thr453Ile) SNV Likely benign 374051 rs1057518862 19:11101938-11101938 19:10991262-10991262

Copy number variations for Strabismus from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 195555 5 152100000 155600000 Deletion strabismus
2 195560 5 152100000 155600000 Deletion FAM172A strabismus
3 195565 5 152100000 155600000 Deletion FAM114A2 strabismus
4 195570 5 152100000 155600000 Deletion GALNT10 strabismus
5 195575 5 152100000 155600000 Deletion HAND1 strabismus
6 195580 5 152100000 155600000 Deletion MFAP3 strabismus
7 195585 5 152100000 155600000 Deletion NR2F1 strabismus
8 195590 5 152100000 155600000 Deletion SAP30L strabismus

Expression for Strabismus

Search GEO for disease gene expression data for Strabismus.

Pathways for Strabismus

GO Terms for Strabismus

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 8.8 TMCO1 NALCN CACNA1A

Sources for Strabismus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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