MCID: STR020
MIFTS: 57

Strabismus

Categories: Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Strabismus

MalaCards integrated aliases for Strabismus:

Name: Strabismus 57 11 75 53 5 14 71
Strabismus, Susceptibility to 57 28 5
Strabismus, Susceptibility to, 1 57 12
Strabismus 1 57

Characteristics:


Inheritance:

Familial but no simple Mendelian inheritance established 57

Classifications:



External Ids:

Disease Ontology 11 DOID:540
OMIM® 57 185100
ICD9CM 34 378.7
SNOMED-CT 68 194125000
ICD10 31 H50.8 H50.9
MedGen 40 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 08-Dec-2022)

MalaCards based summary: Strabismus, also known as strabismus, susceptibility to, is related to ocular motility disease and hypertelorism, 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 are Integration of energy metabolism and Dravet syndrome. The drugs Propofol and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and brain, and related phenotypes are microtropia and Decreased NANOG protein expression

Disease Ontology: 11 A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.

Wikipedia: 75 Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at... 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 882)
# Related Disease Score Top Affiliating Genes
1 ocular motility disease 32.1 VANGL2 VANGL1 CACNA1A
2 hypertelorism 31.0 PTPN11 POGZ MED13L
3 scoliosis 30.8 VANGL1 TMCO1 PTPN11 MED13L KIF7
4 autism spectrum disorder 30.6 STXBP1 PTPN11 POGZ PCDH19 MED13L GNB1
5 episodic ataxia 30.6 SLC2A1 NALCN CACNA1A
6 microcephaly 30.6 STXBP1 SLC2A1 PTPN11 POGZ GNB1 FOXG1
7 autism 30.5 TMCO1 STXBP1 POGZ PCDH19 DHX30 CACNA1A
8 aceruloplasminemia 30.4 STXBP1 SLC2A1 KIF7 CACNA1A
9 anencephaly 30.2 VANGL2 VANGL1 KIF7
10 early myoclonic encephalopathy 30.2 STXBP1 SLC2A1 PCDH19 CACNA1A
11 choreatic disease 30.2 SLC2A1 FOXG1 CACNA1A
12 spasticity 30.2 STXBP1 SLC2A1 KIF7
13 exotropia 11.6
14 esotropia 11.5
15 mental retardation, anterior maxillary protrusion, and strabismus 11.5
16 paralytic squint 11.4
17 hemifacial hyperplasia with strabismus 11.4
18 gatad2b-associated neurodevelopmental disorder 11.4
19 mechanical strabismus 11.3
20 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 11.3
21 ptosis, strabismus, and ectopic pupils 11.3
22 krauss herman holmes syndrome 11.3
23 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.3
24 white-sutton syndrome 11.3
25 neurodevelopmental disorder with microcephaly and gray sclerae 11.3
26 hypotonia, infantile, with psychomotor retardation 11.3
27 amblyopia 11.2
28 mehes syndrome 11.1
29 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.1
30 farsightedness 11.1
31 congenital fibrosis of the extraocular muscles 11.1
32 crouzon syndrome 11.1
33 fourth cranial nerve palsy, familial congenital 11.1
34 syndromic disorder with strabismus 11.0
35 retinoblastoma 11.0
36 arthrogryposis, distal, type 5 11.0
37 hypertropia 11.0
38 abducens palsy 11.0
39 orofaciodigital syndrome ix 11.0
40 congenital disorder of glycosylation, type iy 11.0
41 polymicrogyria, bilateral frontoparietal 11.0
42 corneal dystrophy, congenital stromal 11.0
43 cortical dysplasia, complex, with other brain malformations 1 11.0
44 congenital disorder of glycosylation, type ir 11.0
45 congenital disorder of glycosylation, type iu 11.0
46 lamb-shaffer syndrome 11.0
47 biemond syndrome 11.0
48 brown syndrome 10.9
49 hypotropia 10.9
50 fibrosis of extraocular muscles, congenital, 2 10.9

Graphical network of the top 20 diseases related to Strabismus:



Diseases related to Strabismus

Symptoms & Phenotypes for Strabismus

Human phenotypes related to Strabismus:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtropia 30 HP:0031724

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
strabismus
microtropia
cyclic strabismus (periodic esotrophia)

Clinical features from OMIM®:

185100 (Updated 08-Dec-2022)

UMLS symptoms related to Strabismus:


ophthalmoplegia; spasm of conjugate gaze; anomalies of divergence

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.02 KIF7 MED13L
2 Decreased NANOG protein expression GR00184-A-6 9.02 KIF7 MED13L NALCN

MGI Mouse Phenotypes related to Strabismus:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.41 ADGRG1 CACNA1A DHX30 FOXG1 GNB1 KIF7
2 growth/size/body region MP:0005378 10.28 CACNA1A DHX30 FOXG1 GNB1 KIF7 NALCN
3 embryo MP:0005380 10.14 DHX30 FOXG1 GNB1 KIF7 NALCN PTPN11
4 cellular MP:0005384 10.13 ADGRG1 CACNA1A FOXG1 GNB1 KIF7 MPP4
5 no phenotypic analysis MP:0003012 10.1 CACNA1A KIF7 NALCN PTPN11 SLC2A1 STXBP1
6 behavior/neurological MP:0005386 10.1 ADGRG1 CACNA1A DHX30 FOXG1 GNB1 NALCN
7 hearing/vestibular/ear MP:0005377 9.93 FOXG1 PTPN11 STXBP1 TYR VANGL1 VANGL2
8 craniofacial MP:0005382 9.91 FOXG1 GNB1 KIF7 PTPN11 TMCO1 TYR
9 respiratory system MP:0005388 9.76 CACNA1A FOXG1 GNB1 KIF7 NALCN PTPN11
10 vision/eye MP:0005391 9.61 CACNA1A FOXG1 GNB1 KIF7 MPP4 PTPN11
11 mortality/aging MP:0010768 9.5 CACNA1A DHX30 FOXG1 GNB1 KIF7 NALCN

Drugs & Therapeutics for Strabismus

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
4
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Desflurane Approved Phase 4 57041-67-5 42113
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
8
Povidone-iodine Approved Phase 4 25655-41-8
9
Iodine Approved, Investigational Phase 4 7553-56-2 807
10
Povidone K30 Approved, Experimental, Withdrawn Phase 4 9003-39-8 6917 131751496
11
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
12
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
13
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
14
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
15
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
16
Rimexolone Approved Phase 4 49697-38-3 39507
17
Moxifloxacin Approved, Investigational Phase 4 186826-86-8, 354812-41-2, 151096-09-2 152946
18
Cadexomer iodine Experimental Phase 4 94820-09-4
19 Anti-Anxiety Agents Phase 4
20 Psychotropic Drugs Phase 4
21 Anesthetics, Intravenous Phase 4
22 Anesthetics, General Phase 4
23 GABA Modulators Phase 4
24 Anesthetics, Inhalation Phase 4
25 Excitatory Amino Acid Antagonists Phase 4
26 Pharmaceutical Solutions Phase 4
27 Anesthetics, Dissociative Phase 4
28 Ophthalmic Solutions Phase 4
29 Anti-Infective Agents, Local Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 Hormones Phase 4
32 Anti-Allergic Agents Phase 4
33 Hormone Antagonists Phase 4
34 Antiemetics Phase 4
35 glucocorticoids Phase 4
36 Anti-Inflammatory Agents Phase 4
37 Norgestimate, ethinyl estradiol drug combination Phase 4
38 Gastrointestinal Agents Phase 4
39
Racepinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4, 329-65-7 838 5816
40
Palonosetron Approved, Investigational Phase 3 119904-90-4, 135729-56-5 148211 6337614
41
Granisetron Approved, Investigational Phase 3 109889-09-0 3510 5284566
42
Atropine Approved, Vet_approved Phase 3 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
43 Epinephryl borate Phase 2, Phase 3
44 Serotonin 5-HT3 Receptor Antagonists Phase 3
45 Neurotransmitter Agents Phase 3
46 Respiratory System Agents Phase 3
47 Cholinergic Agents Phase 3
48 Anti-Arrhythmia Agents Phase 3
49 Cholinergic Antagonists Phase 3
50 Parasympatholytics Phase 3

Interventional clinical trials:

(show top 50) (show all 128)
# 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 Comparative Study Between Combined General Anesthesia With Peribulbar Block Versus Traditional General Anesthesia in Patients Undergoing Strabismus Surgery Unknown status NCT04549844 Phase 4 Bupivacaine
3 Dexmedetomidine Versus Midazolam Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
4 Intranasal Dexmedetomidine Versus Intranasal Midazolam-ketamine Combination for Premedication of Pediatric Patients Undergoing Strabismus Surgery Completed NCT02072083 Phase 4 Dexmedetomidine;Ketamine
5 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
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 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
8 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex in Strabismus Surgery Completed NCT02379546 Phase 4 Desflurane
9 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
10 The Effect of Penehyclidine on Postoperative Nausea and Vomiting After Strabismus Surgery Completed NCT04054479 Phase 4 Penehyclidine;normal saline
11 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
12 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
13 Bupivacaine Injection of Eye Muscles to Treat Strabismus Unknown status NCT01616108 Phase 2, Phase 3 Bupivacaine
14 Prospective, Double-blind Study Comparing Palonosetron and Dexamethasone in the Prophylaxis of Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery Unknown status NCT04060771 Phase 3 Palonosetron;Dexamethasone
15 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
16 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
17 A Comparative Study of 1mg and 3 mg of Granisetron in the Prevention of Postoperative Nausea and Vomiting in Strabismus Ophthalmic Surgeries During General Anesthesia Completed NCT04918862 Phase 3 Granisetron
18 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
19 Amblyopia Treatment Study Completed NCT00001864 Phase 3 Atropine
20 A Pragmatic, Randomized, Non-inferiority Trial Comparing the Effectiveness of Botulinum Toxin-based Treatment With Conventional Strabismus Surgery in Acquired Esotropia. Active, not recruiting NCT03459092 Phase 3 Botulinum toxin type A
21 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Unknown status NCT03135938 Phase 1, Phase 2
22 phase2 Study of Prevention of Complications of Strabismus Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
23 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Unknown status NCT00917982 Phase 1
24 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
25 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
26 Effect of 3D Movie Viewing on Stereopsis in Strabismus and / or Anisometropic Amblyops Unknown status NCT04315649
27 A Randomized Controlled Trial to Compare Pain Medications in Children Undergoing Strabismus Surgery Unknown status NCT02789969 Hydromorphone;Fentanyl
28 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]
29 Effect of Strabismus Surgery on Macular and Subfoveal Choroidal Thickness Assessed by Spectral Domain Optical Coherence Tomography Unknown status NCT04285177
30 Dexamethasone (Sterodex) Versus Loteprendol (Lotemax) Eye Drops Following Strabismus Surgery Unknown status NCT02825186 Loteprendol etabonate 0.5%;Dexamethasone 0.1%
31 Validation of the Utility of Strabismus Intelligent Diagnostic System: A Clinical Trial Unknown status NCT04416776 Strabismus diagnostic system.
32 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
33 LR Resection Versus Plication in Esotropia Unknown status NCT04213768
34 Does Anxiety in Children on the Day of Surgery Impact Compliance in the Ophthalmology Clinic? Unknown status NCT02704442
35 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at All Ages Unknown status NCT02113709
36 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
37 Vision in Children Born to Opioid-dependent Methadone-maintained Mothers Unknown status NCT03603301
38 The Analysis of Ocular Deviations Between Dominant and Non-dominant Eye Using Video-oculography (VOG) in Intermittent Exotropia Unknown status NCT03641040
39 Symmetrical Versus Asymmetrical Inferior Oblique Muscle Weakening Surgery for Asymmetrical Inferior Oblique Overaction Unknown status NCT03507712
40 Management of Consecutive Exotropia and Its Effect on Ocular Motility Completed NCT04961021
41 Hydroxyzine Dihydrochloride Premedication is a Necessity for Pediatric Patients Undergoing Strabismus Surgery; An Observational Clinical Trial Controlled With Midazolam Completed NCT03806270 Midazolam;Hydroxyzine Dihydrochloride
42 Postoperative Nausea and Vomiting After Paediatric Strabismus Surgery: a Study of Perioperative Modifiable Risk Factors Completed NCT03806400
43 Strabismus Surgery and Driving Ability Completed NCT02570555
44 Propofol Versus Sevoflurane Anesthesia in Pediatric Strabismus Surgery: Feasibility of BIS Monitoring Completed NCT04485117 Sevoflurane;Propofol
45 Assessment of Symmetrical and Asymmetrical Horizontal Strabismus Surgery: Efficacy and Lateral Incomitance Completed NCT04199286
46 Comparative Validation of the Birefringent Amblyopia Screener With Isolated Small-angle Strabismus Completed NCT04195711
47 Does Preoperative Sleep Quality Affect the Postoperative Emergence Delirium in Children Undergoing Strabismus Surgery? Completed NCT03332407
48 The Effects of Remifentanil and Fentanyl on Emergence Agitation in Pediatric Strabismus Surgery Completed NCT03807011 fentanyl group;remifentanil group
49 Methadone for Emergence Delirium in Children Undergoing Outpatient Strabismus Surgery Completed NCT03778372 Methadone
50 Exercise Interventions of Eye Muscles Post Strabismus Surgery Completed NCT04303832

Search NIH Clinical Center for Strabismus

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


Botulinum Toxin Type A
Demecarium
demecarium bromide

Genetic Tests for Strabismus

Genetic tests related to Strabismus:

# Genetic test Affiliating Genes
1 Strabismus, Susceptibility to 28

Anatomical Context for Strabismus

Organs/tissues related to Strabismus:

MalaCards : Eye, Thyroid, Brain, Cortex, Retina, Bone Marrow, Skeletal Muscle

Publications for Strabismus

Articles related to Strabismus:

(show top 50) (show all 12772)
# Title Authors PMID Year
1
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 62 5
26923739 2016
2
The genetics of strabismus. 62 57
15342692 2004
3
A strabismus susceptibility locus on chromosome 7p. 62 57
14519848 2003
4
Genetics of isolated and syndromic strabismus: facts and perspectives. 62 57
12221494 2002
5
The heritability of strabismus. 62 57
7953247 1994
6
Genetic analysis of human visual parameters in populations with varying incidences of strabismus. 62 57
4424621 1974
7
Cyclic strabismus--a case study. 62 57
4706089 1973
8
[On the heredity of strabismus concomitans]. 62 57
5624276 1967
9
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
10
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 5
29493581 2018
11
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 5
27108799 2016
12
Further confirmation of the MED13L haploinsufficiency syndrome. 5
24781760 2015
13
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 5
23403903 2013
14
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. 5
21590266 2012
15
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 5
20186801 2010
16
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 5
17546245 2007
17
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 5
17020470 2006
18
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 5
14638541 2003
19
Inheritance of congenital esotropia. 57
3590483 1986
20
Heredity in microtropia. 57
5783746 1969
21
Clock-mechanism esotropia in children. Alternate-day squint. 57
4967500 1968
22
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 53 62
19604113 2009
23
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 53 62
18512229 2008
24
Strabismus in unicoronal synostosis: ipsilateral or contralateral? 53 62
17538304 2007
25
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 53 62
17251833 2007
26
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 53 62
17070479 2006
27
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. 53 62
12515581 2003
28
Molecular cloning and characterization of Strabismus 2 (STB2). 53 62
11956595 2002
29
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 53 62
11793467 2002
30
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. 53 62
11709546 2001
31
Ocular albinism type 1: more than meets the eye. 53 62
11549106 2001
32
Mucolipidosis type IV. 53 62
11461186 2001
33
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 53 62
11092754 2000
34
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. 53 62
11013137 2000
35
Identification of the gene causing mucolipidosis type IV. 53 62
10973263 2000
36
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 53 62
10406670 1999
37
The thyrotropin receptor in thyroid eye disease. 53 62
9623732 1998
38
Strabismus in Williams syndrome. 53 62
7503839 1995
39
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 53 62
7795590 1995
40
Visual Acuity: Assessment of Data Quality and Usability in an Electronic Health Record System. 62
36275199 2023
41
Stereopsis following surgery in children with congenital and developmental cataracts: A systematic review and meta-analysis. 62
35988744 2023
42
Clinical characteristics of congenital and developmental cataract in Kazakhstan. 62
36453339 2022
43
Ocular hypertension in patients with active thyroid-associated orbitopathy: a predictor of disease severity, particularly of extraocular muscle enlargement. 62
35834036 2022
44
[Recommendations for progressive myopia in childhood and adolescence. Statement of the DOG, BVA and the Bielschowsky Society for Strabismus Research and Neuroophthalmology : Status June 2022]. 62
36454264 2022
45
Binocular visual field in adults with horizontal strabismus and driving requirements. 62
36460857 2022
46
Syndrome of Myelinated Nerve Fibers, Hyperopia, Strabismus, and Amblyopia. 62
36344423 2022
47
"Single-stage orbital decompression, strabismus and eyelid surgery in moderate to severe thyroid associated orbitopathy." 62
35837684 2022
48
The effect of different types of convergent strabismus on horizontal eye movements. 62
35779198 2022
49
Reply re: single-stage orbital decompression, strabismus and eyelid surgery in moderate to severe thyroid associated orbitopathy. 62
35791442 2022
50
Strabismus and postural control: a systematic review. 62
35187611 2022

Variations for Strabismus

ClinVar genetic disease variations for Strabismus:

5 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) DEL Pathogenic
523510 rs1553212868 GRCh37: 1:151378740-151378740
GRCh38: 1:151406264-151406264
2 MED13L NM_015335.5(MED13L):c.1971del (p.Asp657fs) DEL Pathogenic
523512 rs1555247805 GRCh37: 12:116446247-116446247
GRCh38: 12:116008442-116008442
3 overlap with 30 genes GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) CN GAIN Pathogenic
1047890 GRCh37: 2:136473383-152727396
GRCh38:
4 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) SNV Pathogenic
224714 rs869312823 GRCh37: 1:1737948-1737948
GRCh38: 1:1806509-1806509
5 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) DUP Pathogenic
206353 rs758946412 GRCh37: X:99662504-99662505
GRCh38: X:100407506-100407507
6 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic
208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
7 SLC2A1 NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) MICROSAT Pathogenic
812757 rs1570592604 GRCh37: 1:43395392-43395395
GRCh38: 1:42929721-42929724
8 STXBP1 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic
198157 rs794727792 GRCh37: 9:130423419-130423419
GRCh38: 9:127661140-127661140
9 PTPN11 NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) SNV Pathogenic
40551 rs397507540 GRCh37: 12:112926852-112926852
GRCh38: 12:112489048-112489048
10 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:2339561-2826073) CN LOSS Pathogenic
523261 GRCh37: 17:2339561-2826073
GRCh38:
11 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) CN LOSS Pathogenic
523258 GRCh37: 17:16936603-18184130
GRCh38:
12 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) CN GAIN Pathogenic
523251 GRCh37: 15:23810397-29213787
GRCh38:
13 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=) SNV Pathogenic
222073 rs869312873 GRCh37: 13:101742197-101742197
GRCh38: 13:101089846-101089846
14 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) SNV Pathogenic
224712 rs869312822 GRCh37: 1:1737953-1737953
GRCh38: 1:1806514-1806514
15 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic
224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
16 MED13L t(12;19)(q24.21;q12) TRANS Pathogenic
218934 GRCh37:
GRCh38:
17 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg) SNV Pathogenic
402130 rs1060499733 GRCh37: 3:47888247-47888247
GRCh38: 3:47846757-47846757
18 MPP4 NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) SNV Pathogenic
375383 rs1057519443 GRCh37: 2:202539978-202539978
GRCh38: 2:201675255-201675255
19 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic
375374 rs1057519436 GRCh37: 3:47888040-47888040
GRCh38: 3:47846550-47846550
20 FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV Pathogenic
453289 rs267606826 GRCh37: 14:29237109-29237109
GRCh38: 14:28767903-28767903
21 SIL1 NC_000005.10:g.139189727_139201554del DEL Pathogenic
812923 GRCh37: 5:138525416-138537243
GRCh38:
22 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
23 ADGRG1 NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) DUP Pathogenic
544681 rs1567815105 GRCh37: 16:57694706-57694707
GRCh38: 16:57660794-57660795
24 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic
3781 rs28940877 GRCh37: 11:88911386-88911386
GRCh38: 11:89178218-89178218
25 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely Pathogenic
523363 rs376823382 GRCh37: 11:89018108-89018108
GRCh38: 11:89284940-89284940
26 overlap with 171 genes DEL Likely Pathogenic
812956 GRCh37: 11:114433313-131230466
GRCh38:
27 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser) SNV Likely Pathogenic
374024 rs377274761 GRCh37: 14:88434737-88434737
GRCh38: 14:87968393-87968393
28 DMBX1 NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) SNV Likely Pathogenic
183286 rs730882203 GRCh37: 1:46976625-46976625
GRCh38: 1:46510953-46510953
29 SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs) DUP Likely Pathogenic
183277 rs730882198 GRCh37: 13:36888396-36888397
GRCh38: 13:36314259-36314260
30 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) SNV Likely Pathogenic
242899 rs752134549 GRCh37: 12:123001951-123001951
GRCh38: 12:122517404-122517404
31 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr) SNV Likely Pathogenic
374023 rs1057518843 GRCh37: 14:88454867-88454867
GRCh38: 14:87988523-87988523
32 SOX5 NM_006940.6(SOX5):c.482-2A>C SNV Likely Pathogenic
374026 rs1057518845 GRCh37: 12:23908660-23908660
GRCh38: 12:23755726-23755726
33 FOXP1 NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala) SNV Likely Pathogenic
374144 rs1057518926 GRCh37: 3:71026826-71026826
GRCh38: 3:70977675-70977675
34 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely Pathogenic
374124 rs758361736 GRCh37: 15:90193067-90193067
GRCh38: 15:89649836-89649836
35 CACNA1A NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) SNV Likely Pathogenic
523409 rs1555736565 GRCh37: 19:13341005-13341005
GRCh38: 19:13230191-13230191
36 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) SNV Likely Pathogenic
598952 rs185476065 GRCh37: 3:49137655-49137655
GRCh38: 3:49100222-49100222
37 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) SNV Likely Pathogenic
598953 rs1172486173 GRCh37: 3:49137039-49137039
GRCh38: 3:49099606-49099606
38 NFIX NM_001365902.3(NFIX):c.440G>A (p.Gly147Glu) SNV Likely Pathogenic
627622 rs1568269273 GRCh37: 19:13136247-13136247
GRCh38: 19:13025433-13025433
39 NF1 NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) SNV Uncertain Significance
184278 rs140653372 GRCh37: 17:29552254-29552254
GRCh38: 17:31225236-31225236
40 overlap with 8 genes GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) CN GAIN Uncertain Significance
523282 GRCh37: 6:12536624-13968949
GRCh38:
41 FBN2 NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) SNV Uncertain Significance
978558 rs1765343397 GRCh37: 5:127610307-127610307
GRCh38: 5:128274615-128274615
42 COL1A2 NM_000089.4(COL1A2):c.280-7T>C SNV Uncertain Significance
978557 rs750868020 GRCh37: 7:94033861-94033861
GRCh38: 7:94404549-94404549
43 ASXL3 NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) SNV Uncertain Significance
917519 rs2067593629 GRCh37: 18:31318722-31318722
GRCh38: 18:33738758-33738758
44 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain Significance
623485 rs775468919 GRCh37: 8:38027316-38027316
GRCh38: 8:38169798-38169798
45 AHCTF1 NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter) SNV Uncertain Significance
619032 rs1558223606 GRCh37: 1:247025323-247025323
GRCh38: 1:246862021-246862021
46 overlap with 3 genes GRCh37/hg19 7q36.3(chr7:156656444-156866708) CN GAIN Uncertain Significance
523287 GRCh37: 7:156656444-156866708
GRCh38:
47 overlap with 2 genes GRCh37/hg19 7q36.3(chr7:156333296-156556779) CN GAIN Uncertain Significance
523286 GRCh37: 7:156333296-156556779
GRCh38:
48 SLC9A6 NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) SNV Uncertain Significance
523398 rs1556619324 GRCh37: X:135098913-135098913
GRCh38: X:136016754-136016754
49 SOX3 NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) DUP Uncertain Significance
95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
50 OLFM3 NM_058170.4(OLFM3):c.372+3A>G SNV Uncertain Significance
983485 rs566629297 GRCh37: 1:102296225-102296225
GRCh38: 1:101830669-101830669

Copy number variations for Strabismus from CNVD:

6
# 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

Sources for Strabismus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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