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MCID: STR020
MIFTS: 56

Strabismus

Categories: Eye diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Strabismus

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

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

Summaries for Strabismus

About this section
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...

Sources

Related Diseases for Strabismus

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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 647)
# 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 31.0 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 exotropia 12.2
15 paralytic squint 12.2
16 esotropia 12.2
17 syndromic disorder with strabismus 12.2
18 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.1
19 rare genetic disorder with strabismus 12.1
20 syndromic genetic disorder with strabismus 12.1
21 rare disorder with strabismus 12.1
22 craniostenosis with strabismus 12.1
23 mehes syndrome 11.9
24 mental retardation, autosomal recessive 36 11.7
25 tukel syndrome 11.6
26 hypertropia 11.6
27 white-sutton syndrome 11.6
28 amblyopia 11.6
29 fourth cranial nerve palsy, familial congenital 11.6
30 abducens nerve disease 11.6
31 duane retraction syndrome 11.5
32 crouzon syndrome 11.5
33 retinoblastoma 11.5
34 farsightedness 11.4
35 fibrosis of extraocular muscles, congenital, 2 11.4
36 3mc syndrome 11.4
37 mcpherson robertson cammarano syndrome 11.4
38 microdontia hypodontia short stature 11.4
39 singh chhaparwal dhanda syndrome 11.4
40 brown syndrome 11.4
41 retinoschisis 1, x-linked, juvenile 11.4
42 ocular albinism 11.4
43 hypotropia 11.4
44 duane retraction syndrome 1 11.3
45 3-methylglutaconic aciduria, type iii 11.3
46 cyclotropia 11.3
47 krauss herman holmes syndrome 11.3
48 fibrosis of extraocular muscles, congenital, 1 11.3
49 moebius syndrome 11.3
50 apert syndrome 11.2

Graphical network of the top 20 diseases related to Strabismus:



Diseases related to Strabismus
Sources

Symptoms & Phenotypes for Strabismus

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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
Sources

Drugs & Therapeutics for Strabismus

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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 68602 5311068
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
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Desflurane Approved Phase 4 57041-67-5 42113
7
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 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
Iodine Approved, Investigational Phase 4 7553-56-2 807
12
Povidone-iodine Approved Phase 4 25655-41-8
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 acetate Approved, Vet_approved Phase 4 52-21-1
17
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
18
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
19
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 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 Hypnotics and Sedatives Phase 4
29 Analgesics, Non-Narcotic 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 Anti-Anxiety Agents Phase 4
36 Tranquilizing Agents Phase 4
37 GABA Agents Phase 4
38 Anesthetics, Dissociative Phase 4
39 GABA Modulators Phase 4
40 Psychotropic Drugs Phase 4
41 Excitatory Amino Acid Antagonists Phase 4
42 Excitatory Amino Acids Phase 4
43 Anti-Infective Agents, Local Phase 4
44 Anti-Infective Agents Phase 4
45 Anesthetics, Inhalation Phase 4
46 Norgestimate, ethinyl estradiol drug combination Phase 4
47 Anti-Allergic Agents Phase 4
48 Micronutrients Phase 4
49 Trace Elements Phase 4
50 Plasma Substitutes 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

Sources

Genetic Tests for Strabismus

About this section

Genetic tests related to Strabismus:

# Genetic test Affiliating Genes
1 Susceptibility to Strabismus 29
Sources

Anatomical Context for Strabismus

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MalaCards organs/tissues related to Strabismus:

40
Eye, Testes, Thyroid, Brain, Cortex, Retina, Bone
Sources

Publications for Strabismus

About this section

Articles related to Strabismus:

(show top 50) (show all 11128)
# Title Authors PMID Year
1
The genetics of strabismus. 61 56
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. 61 56
7953247 1994
5
Genetic analysis of human visual parameters in populations with varying incidences of strabismus. 61 56
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. 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. 54 61
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. 54 61
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. 54 61
11549106 2001
21
Mucolipidosis type IV. 54 61
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. 54 61
10973263 2000
25
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 54 61
10406670 1999
26
The thyrotropin receptor in thyroid eye disease. 54 61
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
Long-term Outcomes Following Surgery for Infantile Nystagmus Syndrome With Abnormal Head Positioning. 61
31730837 2020
30
Effect of Isolated Oblique Muscle Weakening Procedures on Horizontal Deviation in A- and V-pattern Exotropia. 61
31461370 2020
31
Health-related quality of life correlated with the clinical severity of intermittent exotropia in children. 61
31406354 2020
32
Palliative care: not only for treating symptoms: a case report. 61
32008478 2020
33
Outcomes of surgery in patients with sensory exotropia. 61
31836297 2020
34
Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia! 61
31955955 2020
35
Strabismus in Unicoronal Craniosynostosis: Effect of Orbital Dysmorphology and Fronto-Orbital Advancement and Remodeling. 61
31985648 2020
36
Bifocals reduce strabismus in children with Down syndrome: Evidence from a randomized controlled trial. 61
31313886 2020
37
Case 278. 61
31961782 2020
38
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication. 61
32016944 2020
39
Plusoptix photoscreener use for paediatric vision screening in Flanders and Iran. 61
31197950 2020
40
Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. 61
31978232 2020
41
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 61
31978233 2020
42
The efficacy of superior oblique posterior tenectomy in the treatment of A-pattern exotropia without ocular intorsion: A retrospective study. 61
31964376 2020
43
Intraorbital Graphite Foreign Body With a Delayed Presentation of Optic Neuropathy. 61
31990893 2020
44
Prevalence of Sagging Eye Syndrome in Adults with Binocular Diplopia. 61
31526795 2020
45
Phoria Adaptation: The Ghost in the Machine. 61
31986106 2020
46
A comparison of Icare PRO and Perkins tonometers in anesthetized children. 61
31313069 2020
47
Heavy eye syndrome precipitated by superotemporal Ahmed glaucoma valve implantation in a woman with axial high myopia. 61
31953024 2020
48
Recovery From Suppression With Successful Motor Alignment After Surgery for Intermittent Exotropia. 61
31972036 2020
49
Comparison of Retinal Vascular Structure in Eyes With and Without Amblyopia by Optical Coherence Tomography Angiography. 61
31972041 2020
50
Isolation and Characterization of Extraocular Muscle derived Muscle Progenitor Cells from Normal and Graves' Orbitopathy Patients. 61
31969085 2020
Sources

Variations for Strabismus

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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 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)duplication Pathogenic 206353 rs758946412 X:99662504-99662505 X:100407506-100407507
3 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
4 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
5 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)SNV Pathogenic 222073 rs869312873 13:101742197-101742197 13:101089846-101089846
6 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
7 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
8 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
9 46;XX;t(3;12)(q13.2;q14)dnTranslocation Pathogenic 267821
10 46;XY;t(6;11)(p12.3;p14.2)dnTranslocation Pathogenic 268006
11 46;X;t(X;3)(p21.3;p25.1)dnTranslocation Pathogenic 268009
12 46;XX;t(2;10)(q22;22.3)dnTranslocation Pathogenic 268036
13 46;XX;ins(2;9)(q24.3;p22.1p24.3)dnTranslocation Pathogenic 268044
14 MPP4 NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)SNV Pathogenic 375383 rs1057519443 2:202539978-202539978 2:201675255-201675255
15 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His)SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
16 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg)SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
17 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
18 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)copy number gain Pathogenic 523251 15:23810397-29213787
19 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
20 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
21 ADGRG1 NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)duplication Pathogenic 544681 rs1567815105 16:57694706-57694707 16:57660794-57660795
22 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
23 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs)deletion Pathogenic 523512 rs1555247805 12:116446247-116446247 12:116008442-116008442
24 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
25 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
26 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)SNV Pathogenic/Likely pathogenic 224712 rs869312822 1:1737953-1737953 1:1806514-1806514
27 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
28 DMBX1 NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)SNV Likely pathogenic 183286 rs730882203 1:46976625-46976625 1:46510953-46510953
29 SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs)duplication Likely pathogenic 183277 rs730882198 13:36888396-36888397 13:36314259-36314260
30 46;XX;t(6;21)(q14;q21)dnTranslocation Likely pathogenic 268025
31 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
32 FOXP1 NM_001244810.1(FOXP1):c.1396C>G (p.Pro466Ala)SNV Likely pathogenic 374144 rs1057518926 3:71026826-71026826 3:70977675-70977675
33 SOX5 NM_006940.6(SOX5):c.482-2A>CSNV Likely pathogenic 374026 rs1057518845 12:23908660-23908660 12:23755726-23755726
34 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940
35 CACNA1A NM_001127221.1(CACNA1A):c.5422G>T (p.Ala1808Ser)SNV Likely pathogenic 523409 rs1555736565 19:13341005-13341005 19:13230191-13230191
36 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404
37 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu)SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
38 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)SNV Likely pathogenic 598953 rs1172486173 3:49137039-49137039 3:49099606-49099606
39 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)SNV Likely pathogenic 598952 rs185476065 3:49137655-49137655 3:49100222-49100222
40 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
41 46;XX;inv(14)(q24.1q32.1)dninversion Uncertain significance 267889
42 46;XX;inv(5)(q14q33)dninversion Uncertain significance 268008
43 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg)SNV Uncertain significance 184278 rs140653372 17:29552254-29552254 17:31225236-31225236
44 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
45 LMBR1 , RNF32 GRCh37/hg19 7q36.3(chr7:156333296-156556779)copy number gain Uncertain significance 523286 7:156333296-156556779
46 LMBR1 , MNX1 , NOM1 GRCh37/hg19 7q36.3(chr7:156656444-156866708)copy number gain Uncertain significance 523287 7:156656444-156866708
47 AHCTF1 NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter)SNV Uncertain significance 619032 rs1558223606 1:247025323-247025323 1:246862021-246862021
48 LSM1 NM_014462.3(LSM1):c.231+4A>CSNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798
49 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
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
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Expression for Strabismus

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Search GEO for disease gene expression data for Strabismus.
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Pathways for Strabismus

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GO Terms for Strabismus

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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
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Sources for Strabismus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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