MCID: LNS001
MIFTS: 40

Lens Subluxation

Categories: Neuronal diseases
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Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation 11 28 53 5 43 14 71 75
Subluxation of Lens 11

Classifications:



External Ids:

Disease Ontology 11 DOID:11364
ICD9CM 34 379.32
MeSH 43 D007906
NCIt 49 C34772
SNOMED-CT 68 155203002
UMLS 71 C0023316

Summaries for Lens Subluxation

MalaCards based summary: Lens Subluxation, also known as subluxation of lens, is related to isolated ectopia lentis and intraocular pressure quantitative trait locus. An important gene associated with Lens Subluxation is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. The drugs Bupivacaine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and skeleton

Wikipedia: 75 Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.... more...

Related Diseases for Lens Subluxation

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

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 30.9 SUOX P3H2 LTBP3 LTBP2 FBN2 FBN1
2 intraocular pressure quantitative trait locus 30.9 PAX6 LTBP2 LOXL1 FBN1
3 retinal detachment 30.8 PAX6 P3H2 FBN1 ADAMTSL4
4 marfan syndrome 30.7 LTBP2 LOXL1 FBN2 FBN1 CBS
5 exfoliation syndrome 30.5 LTBP2 LOXL1 FBN1
6 homocystinuria 30.2 SUOX FBN1 CBS
7 aortic aneurysm, familial thoracic 4 30.2 FBN2 FBN1 CBS
8 amblyopia 30.2 TFAP2A PAX6 BFSP1
9 morgagni cataract 30.1 VPS13B LOXL1 FBN1 CPAMD8 ADAMTSL4
10 loeys-dietz syndrome 1 30.1 FBN2 FBN1
11 cataract 30.0 VSX2 PAX6 P3H2 LOXL1 GALT FBN1
12 megalocornea 29.9 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
13 refractive error 29.9 VPS13B PAX6 P3H2 FBN1
14 myopia 29.9 VPS13B PAX6 P3H2 LTBP2 FBN1 CBS
15 glaucoma 3, primary congenital, a 29.8 PAX6 LTBP3 LTBP2 CPAMD8 ADAMTS10
16 orthostatic intolerance 29.7 LTBP3 LTBP2 FBN2 FBN1
17 loeys-dietz syndrome 29.6 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4
18 primary congenital glaucoma 29.6 PAX6 LTBP3 LTBP2 CPAMD8 ADAMTS10
19 glaucoma, primary open angle 29.4 PAX6 LTBP3 LTBP2 LOXL1 FBN1 ADAMTS17
20 aniridia 1 29.3 VSX2 PAX6 LTBP3 LTBP2 CPAMD8 BFSP1
21 weill-marchesani syndrome 29.1 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4 ADAMTSL2
22 aortic aneurysm, familial thoracic 1 28.9 LTBP3 LTBP2 LOXL1 FBN2 FBN1 CBS
23 late-onset localized junctional epidermolysis bullosa-intellectual disability sy 11.3
24 myopia, high, with cataract and vitreoretinal degeneration 11.1
25 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.1
26 primary angle-closure glaucoma 10.4
27 macular retinal edema 10.3
28 phacolytic glaucoma 10.3 LOXL1 FBN1
29 microphthalmia, syndromic 8 10.3 VSX2 PAX6
30 isolated microphthalmia 3 10.3 VSX2 PAX6
31 fryns microphthalmia syndrome 10.3 VSX2 PAX6
32 achard syndrome 10.3 FBN2 FBN1
33 coloboma of iris 10.2 TFAP2A PAX6
34 congenital aphakia 10.2 VSX2 PAX6
35 aqueous misdirection 10.2 LTBP2 ADAMTSL4
36 leukocoria 10.2 VSX2 PAX6
37 microphthalmia, isolated 2 10.2 VSX2 PAX6
38 corneal edema 10.2
39 weill-marchesani syndrome 1 10.2 LTBP2 FBN1 ADAMTS10
40 tricuspid valve prolapse 10.2 FBN2 FBN1
41 sclerocornea 10.2 VSX2 TFAP2A PAX6
42 ichthyosis, congenital, autosomal recessive 9 10.2 LYSMD4 ADAMTS17
43 colobomatous microphthalmia 10.2 VSX2 TFAP2A PAX6
44 tracheal disease 10.2 FBN1 ADAMTSL2 ADAMTS10
45 postural orthostatic tachycardia syndrome 10.2 FBN2 FBN1
46 macular dystrophy, dominant cystoid 10.2
47 glaucoma, primary closed-angle 10.2
48 dermatitis 10.2
49 anterior segment dysgenesis 1 10.1 PAX6 CPAMD8 ADAMTS17
50 bilateral frontal polymicrogyria 10.1 SUOX ADAMTSL4

Graphical network of the top 20 diseases related to Lens Subluxation:



Diseases related to Lens Subluxation

Symptoms & Phenotypes for Lens Subluxation

GenomeRNAi Phenotypes related to Lens Subluxation according to GeneCards Suite gene sharing:

25 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.34 SUOX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.34 VPS13B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.34 SUOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.34 TFAP2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.34 SUOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.34 SUOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.34 TFAP2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.34 SUOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.34 SUOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.34 TFAP2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.34 VPS13B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.34 ADAMTS10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.34 P3H2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.34 SUOX TFAP2A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-17 10.34 ADAMTS10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-171 10.34 SUOX ADAMTS10 P3H2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.34 SUOX P3H2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.34 P3H2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.34 SUOX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.34 SUOX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.34 SUOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.34 SUOX VPS13B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.34 P3H2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.34 TFAP2A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.34 ADAMTS10
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.34 TFAP2A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-61 10.34 VPS13B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.34 SUOX
29 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.34 P3H2
30 no effect GR00402-S-1 10.14 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 BFSP1 CBS
31 no effect GR00402-S-2 10.14 ADAMTS10 ADAMTSL2 ADAMTSL4 BFSP1 CBS CPAMD8

MGI Mouse Phenotypes related to Lens Subluxation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 10 ADAMTS10 ADAMTS17 ADAMTSL2 CBS FBN1 FBN2
2 craniofacial MP:0005382 9.97 ADAMTS17 CBS FBN1 FBN2 LTBP3 P3H2
3 respiratory system MP:0005388 9.97 ADAMTSL2 CBS FBN1 FBN2 LOXL1 LTBP2
4 vision/eye MP:0005391 9.97 ADAMTS10 ADAMTSL4 BFSP1 CBS FBN2 LOXL1
5 muscle MP:0005369 9.95 ADAMTS10 ADAMTSL2 CBS FBN1 FBN2 PAX6
6 pigmentation MP:0001186 9.83 ADAMTSL4 FBN1 PAX6 TFAP2A VSX2
7 mortality/aging MP:0010768 9.8 ADAMTS10 ADAMTS17 ADAMTSL2 CBS FBN1 FBN2
8 integument MP:0010771 9.32 ADAMTS10 ADAMTS17 ADAMTSL4 CBS FBN1 FBN2

Drugs & Therapeutics for Lens Subluxation

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7 Proxymetacaine Phase 4
8 Anesthetics Phase 4
9 Hypnotics and Sedatives Phase 4

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Comparative Analysis of Oral Sedation Versus Standard Intravenous Sedation in Vitreoretinal Surgery With Topical Anesthesia and Sub-tenon's Block Unknown status NCT04346095 Phase 4 Oral Sedatives with or Without Analgesia;Intravenous Sedatives with or Without Analgesia
2 Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses: A Prospective Case Series Completed NCT01346566 Phase 3
3 Study of Subluxation Lens Biometrics and Postoperative Intraocular Lens Stability Unknown status NCT04685122
4 Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial) Unknown status NCT03276104
5 Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery Unknown status NCT04062084
6 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Unknown status NCT01784926
7 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
8 Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT02790268
9 Efficacy of an Ocular Bandage Contact Lens for the Treatment of Dry Eye After Complicated and Combined Cataract Surgery Recruiting NCT04120389
10 Effect of Different Surgical Treatment of Marfan Syndrome With Subluxation Lens Active, not recruiting NCT05578469
11 CT Lucia 601 IOL Implantation in the Sulcus Enrolling by invitation NCT04796662

Search NIH Clinical Center for Lens Subluxation

Cochrane evidence based reviews: lens subluxation

Genetic Tests for Lens Subluxation

Genetic tests related to Lens Subluxation:

# Genetic test Affiliating Genes
1 Lens Subluxation 28

Anatomical Context for Lens Subluxation

Organs/tissues related to Lens Subluxation:

MalaCards : Eye, Endothelial, Retina, Bone

Publications for Lens Subluxation

Articles related to Lens Subluxation:

(show top 50) (show all 402)
# Title Authors PMID Year
1
Asymmetric pigmentary glaucoma in a patient with Marfan's syndrome. 53 62
15834601 2005
2
Determination of the molecular basis of Marfan syndrome: a growth industry. 53 62
15254580 2004
3
Traumatic Lens Subluxation From Pickleball Injury: A Case Series. 62
35963000 2022
4
Microvascular Retinal Changes in Patients with Marfan Syndrome. 62
35416099 2022
5
Comparison of Accuracy in Keratometries Measured by Different Camera Devices for Predicting the Intraocular Lens Power in Lens-Dislocated Patients. 62
35785758 2022
6
Outcomes of surgical intervention in cases of ectopia lentis. 62
35791125 2022
7
Lens subluxation in two cases of ocular ischemic syndrome: A late complication? 62
35513925 2022
8
Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report. 62
35496767 2022
9
Retropupillary iris claw lens versus Gore-Tex assisted scleral fixated intraocular lens in children with large lens subluxations. 62
35647969 2022
10
Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report. 62
36128087 2022
11
Effect of Different Preoperative Intraocular Pressures on the Prognosis of Traumatic Cyclodialysis Cleft Associated with Lens Subluxation. 62
35107814 2022
12
Intraocular Pressure in Eyes with Intraocular Lens Dislocation and Pseudoexfoliation Syndrome. 62
35472783 2022
13
Early lens aspiration with posterior chamber intraocular lens and capsular tension ring in microspherophakia to avoid lens-induced complications. 62
36211322 2022
14
Factors Related to Visual Outcomes after Lens Surgery in Isolated Microspherophakia. 62
35721227 2022
15
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. 62
35055593 2022
16
Femtosecond Laser Combined with Double-Flange Polypropylene Suture Capsular Tension Ring Suspension for the Treatment of Subluxation of Lens in Marfan Syndrome. 62
35991146 2022
17
The Imaging Characteristics of Lens Subluxation on the Ultrasound Biomicroscopy. 62
36051917 2022
18
Two-Year Follow-Up of Clinical Efficacy of Femtosecond Laser, Modified Capsular Tension Ring, and Iris Hook-Assisted Surgical Treatment of Lens Subluxation in Patients with Elevated Intraocular Pressure. 62
35586595 2022
19
Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos. 62
35665341 2022
20
Association between retinitis pigmentosa and an increased risk of primary angle closure glaucoma: A population-based cohort study. 62
36083972 2022
21
Clinical findings associated with blunt ocular trauma in horses: a retrospective analysis. 62
34213057 2022
22
Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome. 62
36246610 2022
23
[Refractive outcomes of out-of-the-bag intraocular lens implantation]. 62
36287150 2022
24
Comparison of intraocular pressures estimated by rebound and applanation tonometry in dogs with lens instability: 66 cases (2012-2018). 62
34647480 2021
25
Sutureless Scleral-Fixated Intraocular Lens Implantation in the Treatment of Congenital Lens Subluxation Related to Marfan Syndrome. 62
34228568 2021
26
Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation. 62
34844569 2021
27
A novel approach for scleral fixation using Carlevale lens. 62
33517768 2021
28
Accuracy of IOL power calculation formulas in Marfan lens subluxation patients with in-the-bag IOLs and implantation of scleral-sutured single-eyelet modified capsular tension rings. 62
34675149 2021
29
Pediatric Lens Subluxation Surgery, Aphakic Glaucoma, Hemangioma and Dissociative Visual Loss. 62
34662919 2021
30
Combined transconjunctival sutureless three-port vitrectomy and scleral fixation of intraocular lens. 62
34613856 2021
31
Comparison of safety and number of post-operative visits of patients in convenient day versus conventional first day follow-up after phacoemulsification. 62
34475927 2021
32
Cataract Surgery in Malignant Glaucoma from Complete Subluxation of Lens into Anterior Chamber. 62
35173401 2021
33
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. 62
34018898 2021
34
[Comparison of biometric and structural ocular manifestations of Marfan syndrome in twins]. 62
34256475 2021
35
Capsular tension ring assisted phacoemulsification of morgagnian cataract. 62
34146028 2021
36
Anterior chamber intraocular lens - An effective alternative in traumatic and surgical aphakia in the era of scleral-fixated intraocular lens. 62
34011709 2021
37
Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association. 62
34720501 2021
38
Intraocular lens subluxation and decompensated pseudoexfoliation glaucoma in a patient's only reading eye May consultation #1. 62
33908394 2021
39
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination. 62
33951325 2021
40
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. 62
34057920 2021
41
Risk factors of intraocular lens dislocation following routine cataract surgery: a case-control study. 62
33689608 2021
42
Unilateral and Spontaneous Complete Anterior Dislocation of the Crystalline Lens in a Patient With Homocystinuria. 62
34079667 2021
43
Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis. 62
33922930 2021
44
Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria. 62
34327154 2021
45
Intrascleral 4-flanged technique for in-the-bag intraocular lens subluxation. 62
33149040 2021
46
Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome. 62
33542371 2021
47
Morphometric analysis of the lens in human aniridia and mouse Small eye. 62
33248069 2021
48
Outcomes of cataract surgery in pseudoexfoliation syndrome in England: 10-year retrospective cohort study. 62
32826704 2021
49
The simply modified intrascleral fixation using round flange (SMURF) technique for intrascleral intraocular lens fixation. 62
33594097 2021
50
Effective treatment for secondary angle-closure glaucoma caused by traumatic lens subluxation: phacoemulsification with capsular-tension-ring implantation combined with ophthalmic endoscope-controlled goniosynechialysis. 62
34667731 2021

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAP2A NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) DEL Pathogenic
523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
2 FBN1 NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) SNV Pathogenic
16440 rs137854467 GRCh37: 15:48892414-48892414
GRCh38: 15:48600217-48600217
3 FBN1 NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe) SNV Likely Pathogenic
374079 rs1057518881 GRCh37: 15:48805853-48805853
GRCh38: 15:48513656-48513656

Expression for Lens Subluxation

Search GEO for disease gene expression data for Lens Subluxation.

Pathways for Lens Subluxation

Pathways related to Lens Subluxation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 GALT ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
2
Show member pathways
12.08 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
3
Show member pathways
12.08 P3H2 LTBP3 LTBP2 LOXL1 FBN2 FBN1
4
Show member pathways
11.78 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5
Show member pathways
11.61 LTBP3 FBN1 ADAMTSL2 ADAMTS10
6
Show member pathways
11.6 LTBP3 LTBP2 FBN1
7
Show member pathways
10.93 LTBP3 LTBP2 LOXL1 FBN2 FBN1
8 10.73 LTBP2 FBN2 FBN1

GO Terms for Lens Subluxation

Cellular components related to Lens Subluxation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.8 LTBP3 LTBP2 LOXL1 FBN2 FBN1 ADAMTSL4
2 microfibril GO:0001527 9.63 FBN2 FBN1 ADAMTS10
3 extracellular matrix GO:0031012 9.5 LTBP3 LTBP2 LOXL1 FBN2 FBN1 ADAMTSL4

Biological processes related to Lens Subluxation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.76 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
2 embryonic eye morphogenesis GO:0048048 9.56 FBN2 FBN1
3 camera-type eye development GO:0043010 9.35 PAX6 FBN2 FBN1
4 sequestering of TGFbeta in extracellular matrix GO:0035583 8.92 FBN2 FBN1

Molecular functions related to Lens Subluxation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN2 FBN1
2 microfibril binding GO:0050436 8.92 LTBP2 ADAMTSL2

Sources for Lens Subluxation

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