Aliases & Classifications for Strabismus

MalaCards integrated aliases for Strabismus:

Name: Strabismus 53 12 72 28 51 14 69
Strabismus, Susceptibility to, 1 53 13
Strabismus, Susceptibility to 53
Susceptibility to Strabismus 28
Strabismus 1 53

Characteristics:

OMIM:

53
Inheritance:
familial, but no simple mendelian inheritance established


Classifications:



External Ids:

OMIM 53 185100
Disease Ontology 12 DOID:540
ICD9CM 34 378.7
MedGen 39 C1861449
SNOMED-CT via HPO 65 128602000 22066006

Summaries for Strabismus

OMIM : 53 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 syndromic syndromes, including congenital fibrosis of extraocular muscles (see, e.g., FEOM1; 135700), Duane retraction syndrome (126800), and chronic progressive external ophthalmoplegia (530000). (185100)

MalaCards based summary : Strabismus, also known as strabismus, susceptibility to, 1, is related to esotropia and exotropia, and has symptoms including anomalies of divergence, spasm of conjugate gaze and ophthalmoplegia. An important gene associated with Strabismus is NALCN (Sodium Leak Channel, Non-Selective). The drugs Propofol and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and thyroid, and related phenotypes are mortality/aging and cellular

Wikipedia : 72 Strabismus, also called crossed eyes among other terms, is a condition in which the eyes do not properly... more...

Related Diseases for Strabismus

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

(show top 50) (show all 309)
# Related Disease Score Top Affiliating Genes
1 esotropia 33.4 ADAT3 CHN1 TUBB3
2 exotropia 33.0 CHN1 KIF21A PHOX2A TUBB3
3 paralytic squint 32.6 CHN1 KIF21A PHOX2A TUBB3
4 hypertropia 32.3 CHN1 FGFR2 KIF21A TUBB3
5 tukel syndrome 32.2 CHN1 HOXB1 KIF21A PHOX2A TUBB3
6 fibrosis of extraocular muscles, congenital, 2 32.2 KIF21A PHOX2A
7 mechanical strabismus 32.1 DHX30 GNB1 MPP4 NALCN
8 hypotropia 31.6 CHN1 FRMD7 KIF21A PHOX2A TUBB3
9 marcus gunn phenomenon 31.4 CHN1 TUBB3
10 duane retraction syndrome 31.2 CHN1 KIF21A TUBB3
11 ocular motility disease 30.9 CHN1 FRMD7 GPR143 KIF21A PHOX2A TUBB3
12 congenital nystagmus 30.4 FRMD7 GPR143 TUBB3
13 kearns-sayre syndrome 30.3 KIF21A PHOX2A TUBB3
14 ptosis 30.3 ECEL1 KIF21A PHOX2A TUBB3
15 congenital ptosis 30.2 CHN1 KIF21A TUBB3
16 moebius syndrome 29.9 PHOX2A TUBB3
17 alacrima, achalasia, and mental retardation syndrome 28.6 DHX30 GNB1 MPP4
18 mental retardation, anterior maxillary protrusion, and strabismus 12.2
19 hemifacial hyperplasia with strabismus 12.1
20 ptosis, strabismus, and ectopic pupils 12.1
21 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.9
22 ptosis strabismus diastasis 11.8
23 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.8
24 mehes syndrome 11.4
25 white-sutton syndrome 11.3
26 fourth cranial nerve palsy, familial congenital 11.3
27 abducens nerve disease 11.2
28 crouzon syndrome 11.2
29 mental retardation, autosomal recessive 36 11.2
30 amblyopia 11.1
31 retinoblastoma 11.1
32 brown syndrome 11.1
33 fibrosis of extraocular muscles, congenital, 1 11.0
34 coloboma of macula 11.0
35 duane retraction syndrome 1 11.0
36 oculocutaneous albinism 11.0
37 congenital toxoplasmosis 11.0
38 cyclotropia 11.0
39 krauss herman holmes syndrome 10.9
40 arthrogryposis, distal, type 5 10.9
41 naegeli-franceschetti-jadassohn syndrome 10.8
42 mental retardation, autosomal dominant 18 10.8
43 hypotonia, infantile, with psychomotor retardation 10.8
44 mental retardation, autosomal recessive 55 10.8
45 3mc syndrome 10.8
46 gatad2b-associated neurodevelopmental disorder 10.8
47 mcpherson robertson cammarano syndrome 10.8
48 microdontia hypodontia short stature 10.8
49 singh chhaparwal dhanda syndrome 10.8
50 albinism, oculocutaneous, type vi 10.8

Graphical network of the top 20 diseases related to Strabismus:



Diseases related to Strabismus

Symptoms & Phenotypes for Strabismus

Symptoms via clinical synopsis from OMIM:

53
Eyes:
microtropia
strabismus
cyclic strabismus (periodic esotrophia)


Clinical features from OMIM:

185100

Human phenotypes related to Strabismus:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486

UMLS symptoms related to Strabismus:


anomalies of divergence, spasm of conjugate gaze, ophthalmoplegia

MGI Mouse Phenotypes related to Strabismus:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.13 ECEL1 FGFR2 GNB1 HOXB1 MCOLN1 NALCN
2 cellular MP:0005384 10.1 FGFR2 GNB1 CHN1 COL9A1 HOXB1 MPP4
3 nervous system MP:0003631 10.1 CHN1 DHX30 ECEL1 FGFR2 GNB1 GPR143
4 embryo MP:0005380 9.97 CASQ2 DHX30 FGFR2 GNB1 HOXB1 NALCN
5 respiratory system MP:0005388 9.81 ECEL1 FGFR2 GNB1 HOXB1 NALCN PHOX2A
6 skeleton MP:0005390 9.56 VANGL2 CHN1 COL9A1 ECEL1 FGFR2 FRMD7
7 vision/eye MP:0005391 9.23 CASQ2 COL9A1 FGFR2 GPR143 HOXB1 MCOLN1

Drugs & Therapeutics for Strabismus

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

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2 2078-54-8 4943
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 5311068 56032 68602
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
6
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
7
Rimexolone Approved Phase 4 49697-38-3 39507
8
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
9
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
10
Desflurane Approved Phase 4 57041-67-5 42113
11
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
12
Iodine Approved, Investigational Phase 4 7553-56-2 807
13
Povidone Approved Phase 4 9003-39-8
14
Povidone-iodine Approved Phase 4 25655-41-8
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
17
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
20 tannic acid Approved, Nutraceutical Phase 4
21 Analgesics Phase 4,Phase 1,Phase 2
22 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
23 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
24 Hypnotics and Sedatives Phase 4,Phase 2
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
26 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antiemetics Phase 4
28 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
29 Autonomic Agents Phase 4,Phase 3
30 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
31 Anesthetics Phase 4,Phase 3,Phase 2
32 Anesthetics, General Phase 4,Phase 2
33 Anesthetics, Inhalation Phase 4
34 Anesthetics, Intravenous Phase 4,Phase 2
35 Platelet Aggregation Inhibitors Phase 4
36 Adrenergic Agents Phase 4
37 Adrenergic Agonists Phase 4
38 Adrenergic alpha-2 Receptor Agonists Phase 4
39 Adrenergic alpha-Agonists Phase 4
40 Pharmaceutical Solutions Phase 4
41 Anti-Allergic Agents Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 BB 1101 Phase 4
44 Dexamethasone acetate Phase 4 1177-87-3
45 glucocorticoids Phase 4
46 HIV Protease Inhibitors Phase 4
47 Hormone Antagonists Phase 4
48 Hormones Phase 4
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
50 Norgestimate, ethinyl estradiol drug combination Phase 4

Interventional clinical trials:

(show top 50) (show all 130)

# Name Status NCT ID Phase Drugs
1 Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery Completed NCT01901588 Phase 4 Dexmedetomidine
2 Ocular-hypertensive Response to Topical Steroids in Children After Bilateral Strabismus Surgery Completed NCT02816905 Phase 4 0.1 % Dexamethasone;0.1% Fluorometholone;1% Rimexolone
3 Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone Completed NCT01460355 Phase 4 Botulinum Toxin Type A;saline solution
4 The Effect of Anaesthesia Depth on Oculo-cardiac Reflex Completed NCT02379546 Phase 4 Desflurane
5 Povidone-iodine Antisepsis for Strabismus Surgery Completed NCT00461656 Phase 4 Preoperative conjunctival irrigation with 5% or 1.25% PI
6 Effects of Dexmedetomidine Premedication on Emergence Agitation After Strabismus Surgery in Children Completed NCT01895023 Phase 4 Dexmedetomidine;Midazolam;Saline
7 Intranasal Dexmedetomidine vs Midazolam-ketamine Combination for Premedication of Pediatric Patients Completed NCT02072083 Phase 4 Dexmedetomidine;Ketamine
8 Functional Effects of Botox on the Brain Using MRS and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
9 The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. Recruiting NCT03349515 Phase 4 Provodine-Iodine Solution;Group B will receive three drops in each eye of ophthalmic balanced salt solution.
10 Comparison of Intra Ocular Pressure After Insertion of the LMA Supreme and LMA Proseal in Pediatric Patients Recruiting NCT02508181 Phase 4
11 Propofol for Treatment on Emergence Agitation Enrolling by invitation NCT02738814 Phase 4 propofol
12 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
13 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
14 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
15 A Trial of Bifocals in Myopic Children With Esophoria Unknown status NCT00000128 Phase 3
16 Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus Completed NCT01584843 Phase 3 GSK1358820
17 Effects of Prismatic Spectacle Lenses on Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria Completed NCT00785135 Phase 3
18 Bilateral Recession or Unilateral Recession-Resection as Surgery for Infantile Esotropia Completed NCT00304577 Phase 3
19 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
20 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
21 Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia Completed NCT00000170 Phase 3 Atropine
22 Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children Completed NCT00091923 Phase 3
23 Evaluation of VisionQuest 20/20, a Visual Acuity Testing Software Completed NCT00366756 Phase 3
24 Orthoptic Changes Following Photorefractive Keratectomy Completed NCT01279993 Phase 3
25 An Observational Study of Infantile, Acquired Non-accommodative, and Acquired Partially-accommodative Esotropia Completed NCT00310960 Phase 3
26 Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
27 Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children Completed NCT00525174 Phase 3
28 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
29 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
30 Does LMA Instead of ET Tube Affect Incidence of Postoperative Vomiting in Children Undergoing Strabismus Correction? Completed NCT00338559 Phase 2
31 Prevention of Complications of Eye Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
32 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
33 Grading Versus Classic Inferior Oblique Anterior Transposition in Patient With Asymmetric Dissociated Vertical Deviation Recruiting NCT03135938 Phase 1, Phase 2
34 Study of Non-surgical Treatment Versus Observation in Asian Children With Intermittent Exotropia Terminated NCT01267500 Phase 2
35 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients Unknown status NCT00917982 Phase 1
36 Monovision for the Treatment of Diplopia Completed NCT01426672 Phase 1
37 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of External Eye Surgery Completed NCT00344201 Phase 1
38 Visual Cortex Stimulation in Patients With Amblyopia Completed NCT00097162 Phase 1
39 Dichoptic Virtual Reality Therapy for Amblyopia in Adults Terminated NCT02246556 Phase 1
40 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
41 The Effect of Remifentanil Infusion During Emergence on the Incidence of Emergence Delirium Unknown status NCT02108795 Remifentanil;Placebo
42 Surgery for Esotropia Under Topical Anesthesia Unknown status NCT00993174
43 Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at Different Ages Unknown status NCT02113709
44 New Pediatric Patching Method to Improve Compliance Unknown status NCT02236351
45 Does Anxiety in Children on the Day of Surgery Impact Compliance in the Ophthalmology Clinic? Unknown status NCT02704442
46 The Antigagging Effect of Granisetron (Kytril), an Antiemetic Drug, in Dental Situations Unknown status NCT00502437 GRANISETRON
47 Vision Screening for the Detection of Amblyopia Unknown status NCT01430247
48 Safety and Feasibility of Using Epicall for Monitoring Pre-seizure Biomarkers Unknown status NCT01436695
49 Lateral Rectus Muscle and Anterior Segment Optical Coherence Tomography (AS-OCT) in Two Recession Surgeries Unknown status NCT02450162
50 Conservative Treatment of Esotropia in Children up to 3 Years Old Unknown status NCT02404324

Search NIH Clinical Center for Strabismus

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Strabismus

Genetic tests related to Strabismus:

# Genetic test Affiliating Genes
1 Susceptibility to Strabismus 28
2 Strabismus 28

Anatomical Context for Strabismus

MalaCards organs/tissues related to Strabismus:

38
Eye, Testes, Thyroid, Cortex, Brain, Retina, Colon

Publications for Strabismus

Articles related to Strabismus:

(show top 50) (show all 813)
# Title Authors Year
1
Congenital Restrictive Strabismus. ( 29346468 )
2018
2
Effect of intravenous preoperative versus postoperative paracetamol on postoperative nausea and vomiting in patients undergoing strabismus surgery: A prospective randomized study. ( 29450877 )
2018
3
Prevalence and risk factors of strabismus in children and adolescents in South Korea: Korea National Health and Nutrition Examination Survey, 2008-2011. ( 29444106 )
2018
4
Botulinum Toxin for the Treatment of Cyclic Strabismus in Children: Three Case Reports. ( 29452451 )
2018
5
Deep lateral wall orbital decompression following strabismus surgery in patients with Type II ophthalmic Graves' disease. ( 29319400 )
2018
6
Our experience with strabismus surgery under topical anesthesia performed at a tertiary eye care center. ( 29380804 )
2018
7
Accommodative Esotropia Treatment Plan Utilizing Simultaneous Strabismus Surgery and Photorefractive Keratectomy. ( 29339065 )
2018
8
Binocular stereo acuity affects monocular three-dimensional shape perception in patients with strabismus. ( 29306865 )
2018
9
Intramuscular Distribution of the Abducens Nerve in the Lateral Rectus Muscle for the Management of Strabismus. ( 29447480 )
2018
10
Erratum for "Comparison of Minimally Invasive Strabismus (MISS) and Conventional Strabismus Surgery Using the Limbal Approach". ( 29378080 )
2018
11
Position matching between the visual fields in strabismus. ( 29356815 )
2018
12
Differentiating Acute and Subacute Vertical Strabismus Using Different Head Positions During the Upright-Supine Test. ( 29450486 )
2018
13
Dry eye disease in strabismus patients: Does eye deviation harm ocular surface? ( 29406988 )
2018
14
Adjustable Strabismus Surgery under Topical Anesthesia: Alignment in Supine vs Seated Position. ( 29313409 )
2018
15
The impact of strabismus surgery on gait pattern in patients with congenital or starting within one year of age strabismus. ( 29339174 )
2018
16
The Effect of Sub-Tenon's Bupivacaine on Oculocardiac Reflex during Strabismus Surgery and Postoperative Pain: A Randomized Clinical Trial. ( 28791063 )
2017
17
Expression of schizophrenia biomarkers in extraocular muscles from patients with strabismus: an explanation for the link between exotropia and schizophrenia? ( 29302405 )
2017
18
Herpes zoster ophthalmicus and strabismus: a unique cause of secondary Brown syndrome. ( 28625469 )
2017
19
Acquired Adult Onset Cyclic Esotropia in Patients With Myopic Strabismus Fixus and Intraocular Lens Implantation. ( 28692503 )
2017
20
Population-Based Incidence of Strabismus: Why Is It Important? ( 28859195 )
2017
21
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. ( 28320694 )
2017
22
Altered brain network centrality in patients with adult comitant exotropia strabismus: A resting-state fMRI study. ( 28679330 )
2017
23
Strabismus Incidence in a Danish Population-Based Cohort of Children. ( 28859196 )
2017
24
Impact of a Strabismus Surgery Suture Course for First- and Second-Year Ophthalmology Residents. ( 28850640 )
2017
25
Surgical outcomes following rectus muscle plication versus resection combined with antagonist muscle recession for basic horizontal strabismus. ( 29269250 )
2017
26
Use of biodegradable collagen-glycosaminoglycan copolymer matrix implant to reduce postoperative fibrosis in strabismus surgery. ( 29296557 )
2017
27
Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India. ( 28796570 )
2017
28
Endophthalmitis Following Strabismus Surgery: IPOSC Global Study. ( 28925741 )
2017
29
Ptosis and Strabismus Surgery Performed Simultaneously. ( 28926664 )
2017
30
The effect of strabismus surgery on choroidal thickness. ( 28885671 )
2017
31
Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing. ( 28391287 )
2017
32
Identification of rare paired box 3 variant in strabismus by whole exome sequencing. ( 28861346 )
2017
33
American Insight Into Strabismus Surgery Before 1838. ( 28932129 )
2017
34
Observations on the relationship between anisometropia, amblyopia and strabismus. ( 28404522 )
2017
35
Long-term Visual Acuity, Strabismus and Nystagmus Outcomes Following Multimodality Treatment in Group D Retinoblastoma Eyes. ( 28501391 )
2017
36
Securing extraocular muscles in strabismus surgery: biomechanical analysis of muscle imbrication. ( 28870795 )
2017
37
Securing extraocular muscles in strabismus surgery: biomechanical analysis of knot-tying technique. ( 28917992 )
2017
38
A Strabismus Syndrome Causing Chronic Innocuous Headache. ( 28927675 )
2017
39
Comparison of three models of saccade disconjugacy in strabismus. ( 28904108 )
2017
40
Comparison of Minimally Invasive Strabismus Surgery (MISS) and Conventional Strabismus Surgery Using the Limbal Approach. ( 28820930 )
2017
41
Purely horizontal strabismus associated with head tilt. ( 29288838 )
2017
42
Remifentanil: A help in topical strabismus surgery. ( 28830623 )
2017
43
Ocular Causes of Abnormal Head Position: Strabismus Clinic Data. ( 28845325 )
2017
44
Rate of Strabismus Detection on Digital Photographs Increases by Using Off-center Near Target. ( 28092398 )
2017
45
Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus. ( 28510774 )
2017
46
Plication as an alternative to resection in horizontal strabismus: A randomized clinical trial. ( 28905830 )
2017
47
Why strabismus surgery works: the legend of the dose-response curve. ( 29288836 )
2017
48
Amblyopia and strabismus: trends in prevalence and risk factors among young adults in Israel. ( 28814414 )
2017
49
Surgical outcomes of unilateral recession-resection for vertical strabismus in patients with thyroid eye disease. ( 28089937 )
2017
50
Unilateral internuclear ophthalmoplegia, strabismus and transient torsional nystagmus in focal pontine infarction. ( 27448548 )
2016

Variations for Strabismus

ClinVar genetic disease variations for Strabismus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NALCN NM_052867.3(NALCN): c.3390G> A (p.Pro1130=) single nucleotide variant Pathogenic rs869312873 GRCh37 Chromosome 13, 101742197: 101742197
2 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
3 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509
4 GNB1 NM_002074.4(GNB1): c.228T> G (p.Asp76Glu) single nucleotide variant Pathogenic rs869312822 GRCh37 Chromosome 1, 1737953: 1737953
5 MPP4 NM_033066.2(MPP4): c.946T> C (p.Trp316Arg) single nucleotide variant Pathogenic rs1057519443 GRCh37 Chromosome 2, 202539978: 202539978
6 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
7 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh37 Chromosome 3, 47888247: 47888247

Copy number variations for Strabismus from CNVD:

7
# CNVD ID Chromosom 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

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

# Name GO ID Score Top Affiliating Genes
1 membranous septum morphogenesis GO:0003149 8.62 FGFR2 VANGL2

Sources for Strabismus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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