MCID: LNS001
MIFTS: 38

Lens Subluxation

Categories: Neuronal diseases

Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation 12 29 54 6 15 71
Subluxation of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11364
ICD9CM 34 379.32
NCIt 49 C34772
SNOMED-CT 67 65814009
ICD10 32 H27.11
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 homocystinuria. An important gene associated with Lens Subluxation is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and O-glycosylation of TSR domain-containing proteins. The drugs Fentanyl and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and testes, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 128)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 32.8 LTBP2 FBN1 CBS ADAMTSL4 ADAMTS17 ADAMTS10
2 homocystinuria 30.7 MTHFR FBN1 CRYAA CBS
3 homocysteinemia 30.6 MTHFR FBN1 CBS
4 marfan syndrome 30.5 MTHFR LTBP2 LOXL1 FBN1 CBS
5 acute closed-angle glaucoma 30.4 PEX19 LAMA3
6 phimosis 30.3 PEX19 CRYAA
7 coloboma of macula 30.3 VSX2 TFAP2A PAX6 CRYAA
8 retinal detachment 30.1 PAX6 P3H2 ADAMTSL4
9 megalocornea 30.1 LTBP2 FBN1 ADAMTS17 ADAMTS10
10 intraocular pressure quantitative trait locus 30.0 PEX19 PAX6 LTBP2 LOXL1 FBN1 CRYAA
11 amblyopia 29.9 TFAP2A PAX6 CRYAA BFSP1
12 corneal edema 29.9 MPDU1 LTBP2 LAMA3
13 open-angle glaucoma 29.8 MTHFR LTBP2 LOXL1 CRYAA
14 aniridia 1 29.8 VSX2 PAX6 LTBP2 CRYAA
15 myopia 29.6 PAX6 P3H2 LTBP2 FBN1 CRYAA ADAMTS17
16 primary congenital glaucoma 29.3 PAX6 LTBP2 LOXL1 FBN1 CRYAA ADAMTS10
17 cataract 28.5 VSX2 PAX6 P3H2 MTHFR LOXL1 GALT
18 myopia, high, with cataract and vitreoretinal degeneration 11.6
19 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.3
20 coloboma of iris 10.4 TFAP2A PAX6
21 fryns microphthalmia syndrome 10.4 VSX2 PAX6
22 branch retinal artery occlusion 10.4 MTHFR CRYAA
23 congenital aphakia 10.4 VSX2 PAX6
24 leukocoria 10.4 VSX2 CRYAA
25 cutis laxa, autosomal recessive, type ia 10.4 LOXL1 FBN1
26 enophthalmos 10.4 TFAP2A FBN1 CRYAA
27 orbital disease 10.4 TFAP2A FBN1 CRYAA
28 microphthalmia, isolated 3 10.4 VSX2 PAX6
29 glaucoma-related pigment dispersion syndrome 10.3 PEX19 LOXL1
30 joint laxity, short stature, and myopia 10.3
31 central retinal artery occlusion 10.3 MTHFR CRYAA
32 immature cataract 10.3 MPDU1 CRYAA
33 exfoliation syndrome 10.3 MTHFR LOXL1 FBN1
34 colobomatous microphthalmia 10.3 VSX2 TFAP2A PAX6
35 retinal vascular occlusion 10.3 MTHFR LOXL1 CRYAA
36 geleophysic dysplasia 1 10.3 LTBP2 FBN1
37 tracheal disease 10.3 FBN1 ADAMTS17 ADAMTS10
38 isolated microspherophakia 10.3 LTBP2 ADAMTS10
39 exotropia 10.3 PAX6 FBN1 CRYAA
40 geleophysic dysplasia 2 10.3 LTBP2 FBN1
41 axenfeld-rieger syndrome, type 3 10.2 VSX2 PAX6 CRYAA
42 esotropia 10.2 TFAP2A PAX6 CRYAA
43 syndromic microphthalmia 10.2 VSX2 PAX6 CRYAA
44 coloboma, ocular, autosomal dominant 10.2 TFAP2A PAX6
45 ectopia lentis 1, isolated, autosomal dominant 10.2 FBN1 ADAMTSL4 ADAMTS10
46 ectopia lentis 2, isolated, autosomal recessive 10.2 FBN1 ADAMTSL4 ADAMTS10
47 steroid-induced glaucoma 10.2 PEX19 CRYAA
48 weill-marchesani syndrome 1 10.2 LTBP2 ADAMTS10
49 axenfeld-rieger syndrome, type 1 10.2 PAX6 CRYAA
50 nanophthalmos 10.2 VSX2 PAX6 LOXL1

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.74 ADAMTS17
2 Decreased viability GR00249-S 9.74 ADAMTS10 CRYAA GALT LTBP2 TFAP2A
3 Decreased viability GR00381-A-1 9.74 ADAMTS10 ADAMTS17 GALT IQCK P3H2
4 Decreased viability GR00381-A-2 9.74 ADAMTS17
5 Decreased viability GR00381-A-3 9.74 ADAMTS17
6 Decreased viability GR00386-A-1 9.74 GALT LOXL1 MTHFR PAX6 PEX19
7 Decreased viability GR00402-S-2 9.74 ADAMTS17 CRYAA CRYBA2 FBN1 GALT IQCK

MGI Mouse Phenotypes related to Lens Subluxation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.76 ADAMTS10 ADAMTSL4 FBN1 LAMA3 LOXL1 MTHFR
2 vision/eye MP:0005391 9.36 ADAMTS10 ADAMTSL4 BFSP1 CRYBA2 LOXL1 LTBP2
3 pigmentation MP:0001186 9.35 ADAMTSL4 FBN1 PAX6 TFAP2A VSX2

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
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
6
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
7 Proxymetacaine Phase 4
8 Anesthetics Phase 4
9 Hypnotics and Sedatives Phase 4

Interventional clinical trials:


# 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 Not yet recruiting 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 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
4 Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT02790268
5 Efficacy of an Ocular Bandage Contact Lens for the Treatment of Dry Eye After Complicated and Combined Cataract Surgery Recruiting NCT04120389
6 Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial) Recruiting NCT03276104
7 Anterior Segment Changes Before and After Uneventful Combined Phaco-Trabeculectomy by Using Optical Coherence Tomography (OCT) Recruiting NCT03626675
8 Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery Active, not recruiting NCT04062084
9 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Active, not recruiting NCT01784926

Search NIH Clinical Center for Lens Subluxation

Genetic Tests for Lens Subluxation

Genetic tests related to Lens Subluxation:

# Genetic test Affiliating Genes
1 Lens Subluxation 29

Anatomical Context for Lens Subluxation

MalaCards organs/tissues related to Lens Subluxation:

40
Eye, Bone, Testes, Endothelial

Publications for Lens Subluxation

Articles related to Lens Subluxation:

(show top 50) (show all 329)
# Title Authors PMID Year
1
Asymmetric pigmentary glaucoma in a patient with Marfan's syndrome. 54 61
15834601 2005
2
Determination of the molecular basis of Marfan syndrome: a growth industry. 54 61
15254580 2004
3
Pharmacologic pupillary constriction after dilated fundus examination for ectopia lentis to prevent further subluxation. 61
32300672 2020
4
Cataract extraction in patients with primary congenital glaucoma. 61
30957520 2020
5
Trans-scleral plugs fixated IOL: a new paradigm for sutureless scleral fixation. 61
32358266 2020
6
Evaluation of vitreous degeneration as a potential risk factor for retinal detachment after phacoemulsification in dogs. 61
32472635 2020
7
New surgical approach for sutureless scleral fixation. 61
32000520 2020
8
The prevalence of uveitis in a population of donkeys in the UK. 61
32145036 2020
9
[Scleral-fixated intraocular lenses with Z‑suture technique for lens subluxation associated with spherophakia]. 61
31222453 2020
10
Biometric indicators of eyes with occult lens subluxation inducing secondary acute angle closure. 61
32138781 2020
11
Retinal break associated with traumatic lens dislocation or subluxation requiring vitrectomy. 61
31781882 2020
12
Epidemiology of Eye Injuries Resulting in Hospitalization, a Referral Hospital-Based Study. 61
32021063 2020
13
"Sutureless scleral fixation using Carlevale lens: surgical and refractive outcomes". 61
32347697 2020
14
Doubles trouble-85 cases of ocular trauma in badminton: clinical features and prevention. 61
30988018 2020
15
Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis. 61
31956572 2020
16
Double-Flanged polypropylene Suture for Scleral Fixation of Cionni Capsule Tension Ring. 61
32368003 2020
17
Femtosecond laser-assisted cataract surgery in a spherophakic lens: An unusual case report. 61
31689746 2019
18
Eye injury and demographic parameters associated with poor visual outcome. 61
31122763 2019
19
Intraoperative and postoperative complications of cataract surgery in eyes with pseudoexfoliation - An 8-year analysis. 61
31902990 2019
20
[Bilateral posterior lens subluxation in the context of physical abuse: Case report]. 61
31130383 2019
21
Irreversible Ocular Lesions in a Dog With Angiostrongylus Vasorum Infection. 61
31472726 2019
22
Is specialized ophthalmologic evaluation necessary after orbital fractures? A prospective 64-case study. 61
31104221 2019
23
Neglected Congenital Glaucoma With Lens Coloboma. 61
31135584 2019
24
[Application of femtosecond laser technology in the management of subluxated lens]. 61
31340919 2019
25
Self-induced lens subluxation with avulsion of ciliary processes in Tourette Syndrome. 61
31008412 2019
26
Bilateral lens subluxation in Marfan syndrome. 61
30517757 2019
27
Cataract surgery outcomes in eyes with chorioretinal coloboma. 61
31030778 2019
28
WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities. 61
31116317 2019
29
Tadeusz Krwawicz, MD: The inventor of cryosurgery in ophthalmology. 61
30638059 2019
30
Clinical Features and Efficacy of Lens Surgery in Patients with Lens Subluxation Misdiagnosed as Primary Angle-Closure Glaucoma. 61
30426797 2019
31
Epidemiology and clinical presentation of feline cataracts in france: A retrospective study of 268 cases. 61
29508528 2019
32
Bilateral Phacoemulsification in an African Elephant (Loxodonta africana). 61
31380140 2019
33
Characteristic Manifestations regarding Ultrasound Biomicroscopy Morphological Data in the Diagnosis of Acute Angle Closure Secondary to Lens Subluxation. 61
31341905 2019
34
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. 61
30221735 2018
35
Zika and the Eye: Pieces of a Puzzle. 61
29698814 2018
36
BLINDNESS RELATED TO PRESUMED RETINAL TOXICITY AFTER USING PERFLUOROCARBON LIQUID DURING VITREORETINAL SURGERY. 61
28723847 2018
37
Statin use and vitreoretinal surgery: Findings from a Finnish population-based cohort study. 61
29338115 2018
38
Rabbits with naturally occurring cataracts referred for phacoemulsification and intraocular lens implantation: a preliminary study of 12 cases. 61
29205744 2018
39
A Case of a Ruptured Eyeball Caused by High-Pressure Water Jets. 61
29927474 2018
40
Bilateral Crystalline Lens Subluxation in a Child With Marfan Syndrome. 61
29902318 2018
41
Outcomes of lensectomy and risk factors for failure in spherophakic eyes with secondary glaucoma. 61
28928265 2018
42
[A preliminary observation of implanting a double-eyelet capsular tension ring in eyes with serious lens subluxation]. 61
29747365 2018
43
Advanced Midzonal Iris Pigment Epithelial Cyst Managed by Aspiration Deflation. 61
29765951 2018
44
Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System. 61
29511238 2018
45
A survey of ocular ultrasound abnormalities in horse: 145 cases. 61
29492841 2018
46
Comparative evaluation of rotational stability and visual outcome of toric intraocular lenses with and without a capsular tension ring. 61
29480253 2018
47
Rhegmatogenous retinal detachment in paediatric patients after pars plana vitrectomy and sutured scleral-fixated intraocular lenses. 61
28862256 2018
48
Surgical outcomes and complications of sutured scleral fixated intraocular lenses in pediatric eyes. 61
29426441 2018
49
[Surgical technique of retropupillary iris-claw fixated IOL reimplantation]. 61
29953088 2018
50
Role of 25 MHz Ultrasound Biomicroscopy in the Detection of Subluxated Lenses. 61
30416825 2018

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
2 FBN1 NM_000138.4(FBN1):c.364C>T (p.Arg122Cys)SNV Pathogenic 16440 rs137854467 15:48892414-48892414 15:48600217-48600217
3 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe)SNV Likely pathogenic 374079 rs1057518881 15:48805853-48805853 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
12.01 P3H2 LTBP2 LOXL1 LAMA3 FBN1
2
Show member pathways
11.31 ADAMTSL4 ADAMTS17 ADAMTS10
3
Show member pathways
11.2 LTBP2 LOXL1 FBN1
4 9.53 MTHFR CBS

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 basement membrane GO:0005604 9.46 P3H2 LOXL1 LAMA3 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.43 LTBP2 LOXL1 LAMA3 FBN1 ADAMTSL4 ADAMTS10
3 microfibril GO:0001527 9.26 FBN1 ADAMTS10
4 extracellular matrix GO:0031012 9.1 LTBP2 LOXL1 FBN1 ADAMTSL4 ADAMTS17 ADAMTS10

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.46 VSX2 PAX6 CRYBA2 CRYAA
2 extracellular matrix organization GO:0030198 9.1 LOXL1 LAMA3 FBN1 ADAMTSL4 ADAMTS17 ADAMTS10
3 homocysteine metabolic process GO:0050667 8.96 MTHFR CBS

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 LTBP2 LAMA3 FBN1
2 metalloendopeptidase activity GO:0004222 9.33 ADAMTSL4 ADAMTS17 ADAMTS10
3 modified amino acid binding GO:0072341 8.96 MTHFR CBS
4 structural constituent of eye lens GO:0005212 8.8 CRYBA2 CRYAA BFSP1

Sources for Lens Subluxation

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
Content
Loading form....