MCID: STR020
MIFTS: 57

Strabismus

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Strabismus

MalaCards integrated aliases for Strabismus:

Name: Strabismus 56 12 74 54 6 43 15 71
Strabismus, Susceptibility to, 1 56 13
Strabismus, Susceptibility to 56
Susceptibility to Strabismus 29
Strabismus 1 56

Characteristics:

OMIM:

56
Inheritance:
familial, but no simple mendelian inheritance established


Classifications:



External Ids:

Disease Ontology 12 DOID:540
OMIM 56 185100
ICD9CM 34 378.7
MeSH 43 D013285
MedGen 41 C1861449
UMLS 71 C0029831 C0038379

Summaries for Strabismus

OMIM : 56 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)

MalaCards based summary : Strabismus, also known as strabismus, susceptibility to, 1, is related to ocular motility disease and albinism, oculocutaneous, type ib, and has symptoms including ophthalmoplegia, spasm of conjugate gaze and anomalies of divergence. An important gene associated with Strabismus is TYR (Tyrosinase). The drugs Dexmedetomidine and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and thyroid, and related phenotypes are microtropia and Decreased NANOG protein expression

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 640)
# Related Disease Score Top Affiliating Genes
1 ocular motility disease 33.2 VANGL2 VANGL1 GPR143
2 albinism, oculocutaneous, type ib 32.6 TYR GPR143
3 albinism, oculocutaneous, type ia 32.4 TYR GPR143
4 albinism, oculocutaneous, type iii 32.3 TYR GPR143
5 pathologic nystagmus 32.3 TYR KIF7 GPR143 GNB1 GALC
6 hypertelorism 31.3 POGZ MED13L FGFR2
7 alacrima, achalasia, and mental retardation syndrome 30.9 STXBP1 MPP4 MED13L GNB1 DHX30
8 anencephaly 30.6 VANGL2 VANGL1 KIF7
9 mechanical strabismus 12.7
10 mental retardation, anterior maxillary protrusion, and strabismus 12.6
11 hemifacial hyperplasia with strabismus 12.5
12 ptosis, strabismus, and ectopic pupils 12.5
13 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 12.3
14 anterior maxillary protrusion-strabismus-intellectual disability syndrome 12.2
15 exotropia 12.2
16 paralytic squint 12.2
17 esotropia 12.2
18 syndromic disorder with strabismus 12.2
19 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.1
20 rare genetic disorder with strabismus 12.1
21 syndromic genetic disorder with strabismus 12.1
22 rare disorder with strabismus 12.1
23 craniostenosis with strabismus 12.1
24 mehes syndrome 11.9
25 mental retardation, autosomal recessive 36 11.7
26 tukel syndrome 11.6
27 hypertropia 11.6
28 white-sutton syndrome 11.6
29 amblyopia 11.6
30 fourth cranial nerve palsy, familial congenital 11.6
31 abducens nerve disease 11.6
32 duane retraction syndrome 11.5
33 crouzon syndrome 11.5
34 retinoblastoma 11.5
35 farsightedness 11.4
36 fibrosis of extraocular muscles, congenital, 2 11.4
37 3mc syndrome 11.4
38 mcpherson robertson cammarano syndrome 11.4
39 microdontia hypodontia short stature 11.4
40 singh chhaparwal dhanda syndrome 11.4
41 brown syndrome 11.4
42 retinoschisis 1, x-linked, juvenile 11.4
43 ocular albinism 11.4
44 hypotropia 11.4
45 duane retraction syndrome 1 11.3
46 3-methylglutaconic aciduria, type iii 11.3
47 cyclotropia 11.3
48 moebius syndrome 11.3
49 krauss herman holmes syndrome 11.3
50 fibrosis of extraocular muscles, congenital, 1 11.2

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:

56
Eyes:
strabismus
microtropia
cyclic strabismus (periodic esotrophia)

Clinical features from OMIM:

185100

UMLS symptoms related to Strabismus:


ophthalmoplegia, spasm of conjugate gaze, anomalies of divergence

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

26
# 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
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 DHX30 FGFR2 GNB1 KIF7 NALCN TYR
2 nervous system MP:0003631 9.5 ADGRG1 DHX30 FGFR2 GALC GNB1 GPR143
3 limbs/digits/tail MP:0005371 9.43 FGFR2 GALC KIF7 TYR VANGL1 VANGL2

Drugs & Therapeutics for Strabismus

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

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
4
tannic acid Approved Phase 4 1401-55-4
5
Desflurane Approved Phase 4 57041-67-5 42113
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
8
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
9
Rimexolone Approved Phase 4 49697-38-3 39507
10
Povidone Approved Phase 4 9003-39-8
11
Povidone-iodine Approved Phase 4 25655-41-8
12
Iodine Approved, Investigational Phase 4 7553-56-2 807
13
Brinzolamide Approved Phase 4 138890-62-7 68844
14
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
16
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
17 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
18
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
19
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
20
leucovorin Approved Phase 4 58-05-9 6006 143
21
rituximab Approved Phase 4 174722-31-7 10201696
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
23
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
24 Chlorhexidine gluconate Phase 4
25 Disinfectants Phase 4
26 Adrenergic Agonists Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Hypnotics and Sedatives Phase 4
30 Adrenergic Agents Phase 4
31 Ophthalmic Solutions Phase 4
32 Adjuvants, Anesthesia Phase 4
33 Anesthetics, General Phase 4
34 Anesthetics, Intravenous Phase 4
35 Tranquilizing Agents Phase 4
36 Excitatory Amino Acid Antagonists Phase 4
37 Psychotropic Drugs Phase 4
38 GABA Modulators Phase 4
39 GABA Agents Phase 4
40 Anesthetics, Dissociative Phase 4
41 Excitatory Amino Acids Phase 4
42 Anti-Anxiety Agents Phase 4
43 Anti-Infective Agents Phase 4
44 Anti-Infective Agents, Local Phase 4
45 Anesthetics, Inhalation Phase 4
46 Norgestimate, ethinyl estradiol drug combination Phase 4
47 Anti-Allergic Agents Phase 4
48 Trace Elements Phase 4
49 Micronutrients Phase 4
50 Nutrients Phase 4

Interventional clinical trials:

(show top 50) (show all 166)
# Name Status NCT ID Phase Drugs
1 Intra Ocular Pressure After I-gel and Supreme Insertion Unknown status NCT02508181 Phase 4
2 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
3 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
4 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
5 Intranasal Dexmedetomidine Versus Intranasal Midazolam-ketamine Combination for Premedication of Pediatric Patients Undergoing Strabismus Surgery Completed NCT02072083 Phase 4 Dexmedetomidine;Ketamine
6 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
7 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex in Strabismus Surgery Completed NCT02379546 Phase 4 Desflurane
8 The Effect of Penehyclidine on Postoperative Nausea and Vomiting After Strabismus Surgery Completed NCT04054479 Phase 4 Penehyclidine;normal saline
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 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
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 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.
13 Dexmedetomidine Versus Midazolam Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
14 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
15 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
16 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
17 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
18 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
19 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
20 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
21 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
22 Effects of Vertical Prism on the Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria: A Randomized, Double-blinded, Placebo-controlled, Cross-over Study Completed NCT00785135 Phase 3
23 Effect of Intravenous Fluid Therapy on Postoperative Vomiting in Children Undergoing Otorhinolaryngological Surgery Completed NCT01575600 Phase 3
24 Amblyopia Treatment Study Completed NCT00001864 Phase 3 Atropine
25 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
26 A Randomized Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia Completed NCT00094744 Phase 3
27 Amblyopia Treatment Study: Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
28 A Randomized Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children 3 to <7 Years Old Completed NCT00091923 Phase 3
29 Efficacy and Safety of Xeomin for the Treatment of Notalgia Paresthetica Completed NCT01098019 Phase 3 Xeomin;Placebo / Xeomin
30 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
31 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
32 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
33 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
34 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
35 Use of Botulinum Toxin (BTX) for the Treatment of Peripheral Painful Traumatic Trigeminal Neuropathy (PPTTN) Recruiting NCT03555916 Phase 3 BOTOX®, Allergan;Placebo
36 Comparison of Medial Rectus Resection and Plication in Exotropic Patients Not yet recruiting NCT03768362 Phase 2, Phase 3
37 A Randomized Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia in Children 7 to <13 Years Old Terminated NCT00587171 Phase 3
38 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Unknown status NCT03135938 Phase 1, Phase 2
39 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
40 phase2 Study of Prevention of Complications of Strabismus Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
41 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
42 Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants Completed NCT00349726 Phase 2 Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
43 Phase II Randomized, Double-Masked, Placebo-Controlled, Safety, Pharmacokinetic, and Dose-Ranging Study of Multiple Doses of Inositol in Premature Infants Completed NCT01030575 Phase 2 Inositol lower volume;Inositol mid-level volume;Inositol high volume;Placebo low volume
44 Oral Propranolol Versus Placebo for Early Stages of Retinopathy of Prematurity (ROP): A Pilot, Randomized and Prospective Study. Completed NCT01238471 Phase 1, Phase 2 propranolol;sucrose 5%
45 Effect of Intravenous Nalbuphine on Emergence Agitation in Children Undergoing Repair of Rupture Globe Not yet recruiting NCT03470077 Phase 2 IV nalbuphine 0.1 mg/kg with induction of anesthesia.;IV nalbuphine 0.1 mg/kg at the end of surgery.
46 Randomized Study of Non-surgical Treatment Versus Observation in Asian Children With Intermittent Exotropia Terminated NCT01267500 Phase 2
47 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Unknown status NCT00917982 Phase 1
48 Monovision for Treatment of Diplopia Completed NCT01426672 Phase 1
49 Investigation of Visual Plasticity by a Direct Current Stimulation of Occipital Cortex in Adult Amblyopia Completed NCT00097162 Phase 1
50 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1

Search NIH Clinical Center for Strabismus

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


Botulinum Toxin Type A
Demecarium
demecarium bromide

Cochrane evidence based reviews: strabismus

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, Testes, Thyroid, Cortex, Brain, Retina, Bone

Publications for Strabismus

Articles related to Strabismus:

(show top 50) (show all 11050)
# Title Authors PMID Year
1
The genetics of strabismus. 56 61
15342692 2004
2
A strabismus susceptibility locus on chromosome 7p. 61 56
14519848 2003
3
Genetics of isolated and syndromic strabismus: facts and perspectives. 61 56
12221494 2002
4
The heritability of strabismus. 56 61
7953247 1994
5
Genetic analysis of human visual parameters in populations with varying incidences of strabismus. 56 61
4424621 1974
6
Cyclic strabismus--a case study. 61 56
4706089 1973
7
[On the heredity of strabismus concomitans]. 61 56
5624276 1967
8
Inheritance of congenital esotropia. 56
3590483 1986
9
Heredity in microtropia. 56
5783746 1969
10
Clock-mechanism esotropia in children. Alternate-day squint. 56
4967500 1968
11
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 54 61
19604113 2009
12
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 61 54
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. 54 61
17251833 2007
15
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 61 54
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. 54 61
12515581 2003
17
Molecular cloning and characterization of Strabismus 2 (STB2). 61 54
11956595 2002
18
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 61 54
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. 61 54
11709546 2001
20
Ocular albinism type 1: more than meets the eye. 54 61
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. 61 54
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. 54 61
9623732 1998
27
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 61 54
7795590 1995
28
Strabismus in Williams syndrome. 54 61
7503839 1995
29
Factors affecting the motor outcome after corrective surgery for acquired comitant esotropia. 61
30360648 2020
30
Prevalence of Sagging Eye Syndrome in Adults with Binocular Diplopia. 61
31526795 2020
31
Effects of Immersive Virtual Reality Headset Viewing on Young Children: Visuomotor Function, Postural Stability, and Motion Sickness. 61
31377280 2020
32
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. 61
31782896 2020
33
Hemispherotomy can cause post-operative strabismus. 61
31521421 2020
34
Electrophysiological findings in delayed discovery of a metallic intraocular foreign body in a child: case report. 61
31286364 2019
35
Altered functional interactions between neurons in primary visual cortex of macaque monkeys with experimental amblyopia. 61
31553685 2019
36
Outcomes of surgery in patients with sensory exotropia. 61
31836297 2019
37
Cause of acquired onset of diplopia due to isolated third, fourth, and sixth cranial nerve palsies in patients aged 20 to 50 years in Korea: A high resolution magnetic resonance imaging study. 61
31669731 2019
38
A New Era in the Treatment of Thyroid Eye Disease. 61
31377284 2019
39
Surgical outcomes of strabismus after iatrogenic ophthalmic artery occlusion caused by cosmetic filler injections. 61
31842812 2019
40
Conjunctival and Episcleral Blood Flow Restoration After Strabismus Surgery on Swept-Source Optical Coherence Tomography Angiography. 61
31830224 2019
41
A Randomized Controlled Trial to Compare Pain Medications in Children Undergoing Strabismus Surgery. 61
31280990 2019
42
Management of Strabismus Associated With Infantile Nystagmus Syndrome: A Novel Classification to Assist in Surgical Planning. 61
31472158 2019
43
A case of linear scleroderma "en coup de sabre" with strabismus fixus in a child. 61
31544571 2019
44
Ocular alignment, media, and eyelid disorders in Down syndrome. 61
31830843 2019
45
The practise of paediatric optometry in a low-resource environment. 61
31852024 2019
46
Evidence-based clinical practice guidelines for the periodic eye examination in children aged 0-5 years in Canada. 61
31767160 2019
47
Treatment for Central-Peripheral Rivalry-Type Diplopia ("Dragged-Fovea Diplopia Syndrome"). 61
31323203 2019
48
Transient Increase of Wavefront Aberrations after Horizontal Rectus Muscle Surgery in Exotropia. 61
31256683 2019
49
Nystagmus in the Diagnosis of Russell Diencephalic Syndrome. 61
31821513 2019
50
Amblyopia: Detection and Treatment. 61
31845774 2019

Variations for Strabismus

ClinVar genetic disease variations for Strabismus:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter)SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140
2 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
3 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
4 46;XX;t(3;12)(q13.2;q14)dnTranslocation Pathogenic 267821
5 46;XY;t(6;11)(p12.3;p14.2)dnTranslocation Pathogenic 268006
6 MPP4 NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)SNV Pathogenic 375383 rs1057519443 2:202539978-202539978 2:201675255-201675255
7 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His)SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
8 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg)SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
9 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
10 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
11 ADGRG1 NM_005682.7(ADGRG1):c.1601dup (p.Ala535fs)duplication Pathogenic 544681 rs1567815105 16:57694707-57694707 16:57660795-57660795
12 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
13 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)copy number gain Pathogenic 523251 15:23810397-29213787
14 46;XX;ins(2;9)(q24.3;p22.1p24.3)dnTranslocation Pathogenic 268044
15 46;XX;t(2;10)(q22;22.3)dnTranslocation Pathogenic 268036
16 46;X;t(X;3)(p21.3;p25.1)dnTranslocation Pathogenic 268009
17 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs)deletion Pathogenic 523512 rs1555247805 12:116446247-116446247 12:116008442-116008442
18 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
19 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)SNV Pathogenic 222073 rs869312873 13:101742197-101742197 13:101089846-101089846
20 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
21 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)duplication Pathogenic 206353 rs758946412 X:99662505-99662505 X:100407507-100407507
22 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
23 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 1:165712409-165712409 1:165743172-165743172
24 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)SNV Pathogenic/Likely pathogenic 224712 rs869312822 1:1737953-1737953 1:1806514-1806514
25 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
26 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
27 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
28 DMBX1 NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)SNV Likely pathogenic 183286 rs730882203 1:46976625-46976625 1:46510953-46510953
29 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940
30 46;XX;t(6;21)(q14;q21)dnTranslocation Likely pathogenic 268025
31 FOXP1 NM_001244810.1(FOXP1):c.1396C>G (p.Pro466Ala)SNV Likely pathogenic 374144 rs1057518926 3:71026826-71026826 3:70977675-70977675
32 SOX5 NM_006940.6(SOX5):c.482-2A>CSNV Likely pathogenic 374026 rs1057518845 12:23908660-23908660 12:23755726-23755726
33 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
34 CACNA1A NM_001127221.1(CACNA1A):c.5422G>T (p.Ala1808Ser)SNV Likely pathogenic 523409 rs1555736565 19:13341005-13341005 19:13230191-13230191
35 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu)SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
36 SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs)duplication Likely pathogenic 183277 rs730882198 13:36888397-36888397 13:36314260-36314260
37 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)SNV Likely pathogenic 598952 3:49137655-49137655 3:49100222-49100222
38 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)SNV Likely pathogenic 598953 rs1172486173 3:49137039-49137039 3:49099606-49099606
39 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404
40 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Uncertain significance 95305 rs398124211 X:139586489-139586491 X:140504324-140504326
41 LSM1 NM_014462.3(LSM1):c.231+4A>CSNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798
42 AHCTF1 NM_015446.5(AHCTF1):c.3700C>T (p.Arg1234Ter)SNV Uncertain significance 619032 rs1558223606 1:247025323-247025323 1:246862021-246862021
43 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
44 46;XX;inv(14)(q24.1q32.1)dninversion Uncertain significance 267889
45 GFOD1 , MCUR1 , NOL7 , PHACTR1 , RANBP9 , RNF182 , SIRT5 , TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)copy number gain Uncertain significance 523282 6:12536624-13968949
46 LMBR1 , RNF32 GRCh37/hg19 7q36.3(chr7:156333296-156556779)copy number gain Uncertain significance 523286 7:156333296-156556779
47 LMBR1 , MNX1 , NOM1 GRCh37/hg19 7q36.3(chr7:156656444-156866708)copy number gain Uncertain significance 523287 7:156656444-156866708
48 46;XX;inv(5)(q14q33)dninversion Uncertain significance 268008
49 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg)SNV Uncertain significance 184278 rs140653372 17:29552254-29552254 17:31225236-31225236
50 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 AK124699 strabismus
2 195560 5 152100000 155600000 Deletion C5ORF21 strabismus
3 195565 5 152100000 155600000 Deletion C5ORF3 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

Cellular components related to Strabismus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYR GPR143

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

# Name GO ID Score Top Affiliating Genes
1 membranous septum morphogenesis GO:0003149 8.96 VANGL2 FGFR2
2 eye pigment biosynthetic process GO:0006726 8.62 TYR GPR143

Sources for Strabismus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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