JLSM
MCID: JNT004
MIFTS: 45

Joint Laxity, Short Stature, and Myopia (JLSM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Joint Laxity, Short Stature, and Myopia

MalaCards integrated aliases for Joint Laxity, Short Stature, and Myopia:

Name: Joint Laxity, Short Stature, and Myopia 56 73 6
Jlsm 56 73
Severe Myopia-Generalized Joint Laxity-Short Stature Syndrome 58
Myopia 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
joint laxity, short stature, and myopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Joint Laxity, Short Stature, and Myopia

UniProtKB/Swiss-Prot : 73 Joint laxity, short stature, and myopia: An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment.

MalaCards based summary : Joint Laxity, Short Stature, and Myopia, also known as jlsm, is related to myopia and deafness and myopia. An important gene associated with Joint Laxity, Short Stature, and Myopia is GZF1 (GDNF Inducible Zinc Finger Protein 1). The drugs Tropicamide and Fluorometholone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are hearing impairment and talipes equinovarus

More information from OMIM: 617662

Related Diseases for Joint Laxity, Short Stature, and Myopia

Diseases related to Joint Laxity, Short Stature, and Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 574)
# Related Disease Score Top Affiliating Genes
1 myopia 12.9
2 deafness and myopia 12.7
3 degenerative myopia 12.7
4 epiphyseal dysplasia, multiple, with myopia and conductive deafness 12.6
5 myopia 6 12.6
6 myopia 21, autosomal dominant 12.5
7 myopia 26, x-linked, female-limited 12.5
8 polydactyly, postaxial, with progressive myopia 12.5
9 myopia 23, autosomal recessive 12.5
10 myopia 22, autosomal dominant 12.5
11 myopia 24, autosomal dominant 12.5
12 myopia, high, with cataract and vitreoretinal degeneration 12.5
13 myopia 17, autosomal dominant 12.5
14 myopia 25, autosomal dominant 12.5
15 myopia 27 12.5
16 myopia 5, autosomal dominant 12.5
17 myopia 12, autosomal dominant 12.5
18 myopia 13, x-linked 12.5
19 myopia 18, autosomal recessive 12.5
20 myopia 15, autosomal dominant 12.5
21 myopia 16, autosomal dominant 12.5
22 myopia 19, autosomal dominant 12.5
23 myopia 11, autosomal dominant 12.5
24 blepharoptosis, myopia, and ectopia lentis 12.5
25 myopia 1, x-linked 12.5
26 myopia 2, autosomal dominant 12.5
27 myopia 10 12.5
28 myopia 7 12.5
29 myopia 14 12.5
30 myopia 8 12.5
31 myopia 9 12.5
32 myopia 20, autosomal dominant 12.5
33 myopia 3, autosomal dominant 12.4
34 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.4
35 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 12.4
36 sinus node disease and myopia 12.3
37 ophthalmoplegia, external, and myopia 12.3
38 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 12.3
39 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.2
40 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.2
41 night blindness, congenital stationary, type 1a 12.2
42 epiphyseal dysplasia of femoral head, myopia, and deafness 12.2
43 donnai-barrow syndrome 12.1
44 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 12.1
45 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 12.1
46 rare isolated myopia 12.1
47 aplasia cutis myopia 12.0
48 marshall syndrome 12.0
49 x-linked congenital stationary night blindness 12.0
50 hamamy syndrome 12.0

Graphical network of the top 20 diseases related to Joint Laxity, Short Stature, and Myopia:



Diseases related to Joint Laxity, Short Stature, and Myopia

Symptoms & Phenotypes for Joint Laxity, Short Stature, and Myopia

Human phenotypes related to Joint Laxity, Short Stature, and Myopia:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 talipes equinovarus 31 very rare (1%) HP:0001762
3 retinal detachment 31 very rare (1%) HP:0000541
4 iris coloboma 31 very rare (1%) HP:0000612
5 chorioretinal coloboma 31 very rare (1%) HP:0000567
6 short neck 31 HP:0000470
7 pectus carinatum 31 HP:0000768
8 short stature 31 HP:0004322
9 restrictive ventilatory defect 31 HP:0002091
10 osteopenia 31 HP:0000938
11 kyphoscoliosis 31 HP:0002751
12 glaucoma 31 HP:0000501
13 proptosis 31 HP:0000520
14 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Growth Height:
short stature

Respiratory Lung:
restrictive lung disease

Skeletal Feet:
talipes equinovarus (in some patients)

Skeletal Spine:
progressive kyphoscoliosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal:
osteopenia

Head And Neck Eyes:
exophthalmos
severe myopia
iris coloboma (in some patients)
retinal detachment (in some patients)
chorioretinal coloboma (in some patients)
more
Head And Neck Ears:
hearing loss (in some patients)

Skeletal Limbs:
hyperextensibility of joints
multiple large joint dislocations (in some patients)

Clinical features from OMIM:

617662

Drugs & Therapeutics for Joint Laxity, Short Stature, and Myopia

Drugs for Joint Laxity, Short Stature, and Myopia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 175)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
2
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
3
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
4
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
5
Ranibizumab Approved Phase 4 347396-82-1 459903
6
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
7
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
8
Polihexanide Approved, Investigational Phase 4 28757-47-3
9
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
10
Ofloxacin Approved Phase 4 82419-36-1 4583
11
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
14
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
15
Dipivefrin Approved Phase 4 52365-63-6 3105
16 Propoxycaine Approved Phase 4 86-43-1
17 Laxatives Phase 4
18 Cathartics Phase 4
19
Echothiophate Iodide Phase 4 6736-03-4 10547
20 Carboxymethylcellulose Sodium Phase 4
21 Cholinesterase Inhibitors Phase 4
22 Anti-Allergic Agents Phase 4
23 Anti-Arrhythmia Agents Phase 4
24 Lubricant Eye Drops Phase 4
25 Mitomycins Phase 4
26 Alkylating Agents Phase 4
27 Angiogenesis Inhibitors Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Analgesics Phase 4
30 Antirheumatic Agents Phase 4
31 Anti-Inflammatory Agents Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Biguanides Phase 4
34 Ketorolac Tromethamine Phase 4
35 Cyclooxygenase Inhibitors Phase 4
36 Sodium Channel Blockers Phase 4
37 Diuretics, Potassium Sparing Phase 4
38 Neuromuscular Blocking Agents Phase 4
39 Adrenergic Agents Phase 4
40 Adrenergic Agonists Phase 4
41 Respiratory System Agents Phase 4
42 Parasympatholytics Phase 4
43 Cholinergic Agents Phase 4
44 Muscarinic Antagonists Phase 4
45 Mydriatics Phase 4
46 Bronchodilator Agents Phase 4
47 Anti-Asthmatic Agents Phase 4
48 Cholinergic Antagonists Phase 4
49 Neurotransmitter Agents Phase 4
50 Anesthetics Phase 4

Interventional clinical trials:

(show top 50) (show all 695)
# Name Status NCT ID Phase Drugs
1 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
2 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK Unknown status NCT02071576 Phase 4
3 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
4 A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK Unknown status NCT01977807 Phase 4
5 Ranibizumabe Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
6 A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia Unknown status NCT02112968 Phase 4
7 A Prospective, Randomized, Multi Center Clinical Comparison Of Fellow Eyes Undergoing Lasik Using The Amo/Visx Customvue™ , The Bausch And Lomb Zyoptix And Planoscan And The Wavelight Allegretto Wave™ Wavefront Guided And Wavefront Optimized Excimer Laser Systems Unknown status NCT00770094 Phase 4
8 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
9 Randomized, Single Blinded Controlled Trial for Evaluation of the Safety and Efficacy of Loteprednol Versus Fluorometholone After Photorefractive Keratectomy for the Correction of Mild to Moderate Myopia, 3- Month Follow-up Study Unknown status NCT02974387 Phase 4 Fluorometholone(FML);Loteprednol (Lotemax)
10 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
11 Effect of Orthokeratology on Myopia Progression in Chinese Children Completed NCT02186184 Phase 4
12 A Prospective, Randomised Trial of Photo-Refractive Keratectomy (PRK) and Laser-in-Situ-Keratomileusis (LASIK) for Correction of Myopia Completed NCT00404105 Phase 4
13 Effects of Contact Lens Care Regimens on the Corneal Epithelium Completed NCT00349882 Phase 4 Marketed multipurpose disinfection regimen
14 Evaluation of Stenfilcon A Versus Etafilcon A Completed NCT01809834 Phase 4
15 Evaluation of the Prophylactic Use of Mitomycin C 0.02% to Inhibit Haze Formation After Photorefractive Keratectomy for High Myopia: 15 x 30 Seconds Completed NCT00564213 Phase 4 PRK and a single intraoperative topical application of mitomycin C 0.02% for 15 seconds
16 A Single Center Prospective Evaluation of the Post-LASIK Flap Thickness of the FS200 Femtosecond Laser Flap Completed NCT01693939 Phase 4
17 Investigation of Multi-Purpose Solution-Based Corneal Staining and Ocular Comfort With Daily Wear FDA Group IV Hydrogel Lenses Completed NCT00349843 Phase 4 Marketed soft lens multipurpose disinfection regimen
18 A Prospective Evaluation of Outcomes Following Wavefront Optimized or Wavefront Guided Lasik Procedure in Low to Moderate Myopic Patients Completed NCT01173198 Phase 4
19 Clinical Comfort Evaluation of Biofinity and Acuvue Oasys Lenses Completed NCT01695369 Phase 4
20 Product Performance of Bausch & Lomb PureVision® Contact Lens When Compared to Johnson & Johnson Acuvue Oasys Contact Lens and the Ciba Vision O2Optix Contact Lens Worn Daily. Completed NCT00640341 Phase 4
21 Clinical Study of Approved Contact Lenses Completed NCT03351101 Phase 4
22 Bevacizumab Intravitreal for Myopic Choroidal Neovascularization Completed NCT00797992 Phase 4 Injection
23 A Prospective Study to Evaluate the Safety and Effectiveness of the Supracor Presbyopic Treatment Algorithm for Pseudophakic Eyes Using Lasik Completed NCT01387360 Phase 4
24 Effect of Preoperative Pupil Size on Quality of Vision After Wavefront-Guided LASIK Completed NCT00889941 Phase 4
25 Multi-center Clinical Evaluation of PC 1-Day vs 1-Day Acuvue Moist Completed NCT02024698 Phase 4
26 Evaluation Of Visual Outcomes and Contrast Sensitivity After Myopic Wavefront-Optimized Lasik Using the 200 KHZ WAVELIGHT® FS200 Femtosecond Laser and the WAVELIGHT® ALLEGRETTO WAVE® EYE-Q Laser Completed NCT01746589 Phase 4
27 BIOCLEAN MPS (Multi-Purpose Solution) VII in Combination With Biofinity Lens: A Two Week Crossover Study Completed NCT02537730 Phase 4
28 Efficacy of PEG-400 and Systane Artificial Tears (Alcon) on Quality of Vision Completed NCT00627302 Phase 4 PEG-400;Systane
29 Multi-Centre Clinical Evaluation Of Two Daily Disposable Contact Lenses Completed NCT01707238 Phase 4
30 Daily Disposable Comparison Study Completed NCT02094677 Phase 4
31 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
32 Long-term Effects of Laser Refractive Surgery Completed NCT00350246 Phase 4
33 Clinical Performance of Stenfilcon A Versus Filcon II 3 Completed NCT01808209 Phase 4
34 A Prospective, Multi Center Clinical Comparison of Fellow Eyes Undergoing Lasik Using the Wavelight Allegretto Wave™ Excimer Laser in One Eye and the Amo/Visx Customvue™ or the Ladarvision 4000 Excimer Laser System in the Contralateral Eye Completed NCT00821236 Phase 4
35 The Influence of Atropine on Choroidal Thickness Completed NCT03158142 Phase 4 Atropine Sulfate 1% Oph Soln
36 The Effects of Low Dose Atropine on Choroidal Thickness Completed NCT03544827 Phase 4 Atropine;Atropine
37 Single-Center Clinical Evaluation of Daily Disposable Contact Lenses Completed NCT02097030 Phase 4
38 Infiltrative Events During Silicone Hydrogel Daily Contact Lens (Daily Wear Corneal Infiltrative Event (DWCIE) Study) Completed NCT00937105 Phase 4
39 Corneal and Conjunctival Sensitivity and Staining Study Completed NCT00455455 Phase 4 Optifree RepleniSH Multipurpose Disinfecting Solution;ReNu Multiplus Multipurpose Solution
40 Dosing Strategy of Intravitreal Ranibizumab for Myopia Choroidal Neovascularization: a Single Center Randomized Prospective Study Completed NCT03042871 Phase 4 0.5mg intravitreal ranibizumab
41 Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface: A Laser In Vivo Confocal Microscopy Study Completed NCT01250925 Phase 4 ReNu MultiPlus® MultiPurpose Solution;OPTI-FREE® RepleniSH®;Clear Care®
42 Double Masked Evaluation of Acular LS Versus Nevanac for Postoperative Pain Control in Eyes Undergoing PRK Completed NCT00347204 Phase 4 ketorolac (Acular LS);Nepafenac (Nevanac)
43 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
44 Efficacy and Safety of Low Dose Atracurium Added to Lidocaine, Bupivacaine and Hyaluronidase Mixture in Percaruncular Peribulbar Anesthesia for High Myopes Undergoing Phacoemulsification: A Randomized Controlled Trial. Completed NCT03243500 Phase 4 Atracurium;Lidocaine 2%;Bupivacaine 0.5%;hyaluronidase powder
45 Clinical Investigation of the Vision-R800 Device. Understanding the Value of High Precision Refractions and Lenses to Optometrists and Patients. Phase 2 Recruiting NCT04208750 Phase 4
46 A Prospective, Randomized Comparison of SMILE Surgery to Wavefront-guided LASIK Surgery Active, not recruiting NCT03067077 Phase 4
47 A Prospective Eye to Eye Comparison of LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser Versus AMO Visx Wavefront-Guided Excimer Laser Active, not recruiting NCT01454843 Phase 4
48 Post Photorefractive Keratectomy (PRK) Use of an Eye Shield for Maintaining Vision and Mitigating Pain Active, not recruiting NCT01592643 Phase 4
49 A Prospective Randomized Eye to Eye Comparison of Fellow Eyes Undergoing Lasik With the IntraLase(TM) FS Versus PRK Active, not recruiting NCT01140594 Phase 4
50 A Prospective, Randomized Comparison of Fellow Eyes Undergoing Wavefront-guided PRK Versus Wavefront-optimized PRK Using the Alcon Allegretto Eye-Q 400 Excimer Laser Active, not recruiting NCT02091934 Phase 4

Search NIH Clinical Center for Joint Laxity, Short Stature, and Myopia

Cochrane evidence based reviews: myopia

Genetic Tests for Joint Laxity, Short Stature, and Myopia

Anatomical Context for Joint Laxity, Short Stature, and Myopia

MalaCards organs/tissues related to Joint Laxity, Short Stature, and Myopia:

40
Eye, Retina, Endothelial, Testes, Brain, Bone, Heart

Publications for Joint Laxity, Short Stature, and Myopia

Articles related to Joint Laxity, Short Stature, and Myopia:

(show top 50) (show all 15797)
# Title Authors PMID Year
1
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 56 6 61
28475863 2017
2
Decentration of a toric intraocular lens implant in a patient with simple megalocornea. 61
32551399 2020
3
Laser vitreolysis for symptomatic floaters is not yet ready for widespread adoption. 61
32135173 2020
4
Staphyloma-related chorioretinal folds. 61
32529117 2020
5
Connective Tissue Remodeling in Myopia and its Potential Role in Increasing Risk of Glaucoma. 61
32211567 2020
6
An opponent dual-detector spectral drive model of emmetropization. 61
32445984 2020
7
Risk factors for postlaser refractive surgery corneal ectasia. 61
32398416 2020
8
Six modes of corneal topography for evaluation of ablation zones after small-incision lenticule extraction and femtosecond laser-assisted in situ keratomileusis. 61
32328759 2020
9
Protective behaviours of near work and time outdoors in myopia prevalence and progression in myopic children: a 2-year prospective population study. 61
31615762 2020
10
Low-dose (0.01%) atropine eye-drops to reduce progression of myopia in children: a multicentre placebo-controlled randomised trial in the UK (CHAMP-UK)-study protocol. 61
31653669 2020
11
Comparative Study of Implantable Collamer Lens Implantation in Treating Four Degrees of Myopia: Six-Month Observation of Visual Results, Higher-Order Aberrations, and Amplitude of Accommodation. 61
31801031 2020
12
Evaluation of myopic cornea lenticules. A histochemical and clinical correlation. 61
32439395 2020
13
Optical coherence tomography angiography for the assessment of choroidal vasculature in high myopia. 61
31585963 2020
14
Myopia and its progression in children in London, UK: a retrospective evaluation. 61
31992534 2020
15
Part-time use of 1% atropine eye drops for prevention of myopia progression in children. 61
32266643 2020
16
Non-additive (dominance) effects of genetic variants associated with refractive error and myopia. 61
32227305 2020
17
Disrupted potassium ion homeostasis in ciliary muscle in negative lens-induced myopia in Guinea pigs. 61
32418893 2020
18
Characteristics, Behaviors, and Awareness of Contact Lens Wearers Purchasing Lenses Over the Internet. 61
32443017 2020
19
Two-Year Clinical Trial of the Low-Concentration Atropine for Myopia Progression (LAMP) Study: Phase 2 Report. 61
32019700 2020
20
The efficacy of modified posterior scleral reinforcement with round scleral patches in Chinese children with high myopia. 61
32279089 2020
21
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. 61
32505691 2020
22
Refractive, visual, and subjective quality of vision outcomes for very high myopia LASIK from - 10.00 to - 13.50 diopters. 61
32552787 2020
23
Comparison of clinical results between trans-PRK and femtosecond LASIK for correction of high myopia. 61
32560634 2020
24
Comparison of Corneal Wavefront-optimized and Wavefront-guided Alcohol-assisted Photorefractive Keratectomy Using Schwind Amaris 750S Laser for Myopia. 61
32495529 2020
25
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss. 61
32578940 2020
26
Heavy Eye Syndrome: Myopia Induced Strabismus. 61
32522490 2020
27
Efficacy of toric intraocular lens implantation with high corneal astigmatism within the United Kingdom's National Health Service. 61
31844167 2020
28
Outcomes Comparison Between Wavefront-Optimized and Topography-Guided PRK in Contralateral Eyes With Myopia and Myopic Astigmatism. 61
32521022 2020
29
The prevalence of refractive errors in the Middle East: a systematic review and meta-analysis. 61
32107693 2020
30
In vivo measures of anterior scleral resistance in humans with rebound tonometry. 61
32495401 2020
31
Three-year outcomes of macular buckling for macular holes and foveoschisis in highly myopic eyes. 61
31742899 2020
32
Quantitative topographic curvature maps of the posterior eye utilizing optical coherence tomography. 61
32568982 2020
33
Comparison of visual performance and satisfaction with a bilateral emmetropic vs a bilateral mild myopic target using a spherical monofocal intraocular lens. 61
32205731 2020
34
Effects of topical pilocarpine on ocular growth and refractive development in rabbits. 61
32524847 2020
35
The BElfast Retinal Tear and detachment Score (BERT Score). 61
32555518 2020
36
Biometric and refractive errors evaluation in patients with neurofibromatosis type 1. 61
32515611 2020
37
Long-Term Refractive Outcome of Small Incision Lenticule Extraction in Very High Myopia. 61
32118668 2020
38
Randomized Clinical Trial Comparing Femtosecond LASIK and Small-Incision Lenticule Extraction. 61
31619358 2020
39
PERSISTENT LOCULATED SUBRETINAL FLUID AFTER RHEGMATOGENOUS RETINAL DETACHMENT SURGERY. 61
31241497 2020
40
Novel use of Finesse Flex loop for macular hole retinal detachment. 61
32346652 2020
41
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. 61
32085876 2020
42
Toric Lentis Mplus intraocular lens opacification: A case report. 61
32292834 2020
43
Optomap ultrawide field imaging for detecting peripheral retinal lesions in 1725 high myopic eyes before implantable collamer lens surgery. 61
32510801 2020
44
Bilateral focal choroidal excavations in a patient with Stargardt disease and ocular toxoplasmosis. 61
32486902 2020
45
Long-term morphologic fundus and optic nerve head pattern of progressive myopia in congenital glaucoma distinguished by age at first surgery. 61
32572115 2020
46
The Role of the Dopamine D2 Receptor in Form-Deprivation Myopia in Mice: Studies With Full and Partial D2 Receptor Agonists and Knockouts. 61
32572456 2020
47
Predictors of Myopic Regression for Laser-assisted Subepithelial Keratomileusis and Laser-assisted in Situ Keratomileusis Flap Creation with Mechanical Microkeratome and Femtosecond Laser in Low and Moderate Myopia. 61
31878825 2020
48
Quantitative assessment of the retinal microvasculature and choriocapillaris in myopic patients using swept-source optical coherence tomography angiography. 61
32144487 2020
49
Very late onset corneal haze in a photorefractive keratectomy patient associated with presumed viral keratoconjuctivitis. 61
32461475 2020
50
Alteration of retinal metabolism and oxidative stress may implicate myopic eye growth: Evidence from discovery and targeted proteomics in an animal model. 61
32061809 2020

Variations for Joint Laxity, Short Stature, and Myopia

ClinVar genetic disease variations for Joint Laxity, Short Stature, and Myopia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GZF1 NM_022482.5(GZF1):c.865G>T (p.Glu289Ter)SNV Pathogenic 438348 rs1555786618 20:23345885-23345885 20:23365248-23365248
2 GZF1 NM_022482.5(GZF1):c.1054dup (p.Thr352fs)duplication Pathogenic 438349 rs1555786729 20:23346073-23346074 20:23365436-23365437

Expression for Joint Laxity, Short Stature, and Myopia

Search GEO for disease gene expression data for Joint Laxity, Short Stature, and Myopia.

Pathways for Joint Laxity, Short Stature, and Myopia

GO Terms for Joint Laxity, Short Stature, and Myopia

Sources for Joint Laxity, Short Stature, and Myopia

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
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