Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation 12 29 54 6 43 15 71
Subluxation of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11364
ICD9CM 34 379.32
MeSH 43 D007906
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 marfan syndrome. An important gene associated with Lens Subluxation is FBN1 (Fibrillin 1), and among its related pathways/superpathways are O-linked glycosylation and Diseases of glycosylation. 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 116)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 32.0 SUOX FBN1 CBS ADAMTSL4 ADAMTSL2 ADAMTS17
2 marfan syndrome 31.0 MTHFR LOXL1 FBN1 CBS
3 homocysteinemia 30.6 MTHFR FBN1 CBS
4 megalocornea 30.5 FBN1 ADAMTS17 ADAMTS10
5 homocystinuria 30.5 SUOX MTHFR FBN1 CBS
6 intraocular pressure quantitative trait locus 30.4 PEX19 PAX6 LOXL1 FBN1 CRYAA
7 phimosis 30.4 PEX19 CRYAA
8 open-angle glaucoma 30.1 MTHFR LOXL1 CRYAA
9 primary congenital glaucoma 29.7 PAX6 LOXL1 FBN1 ADAMTS17 ADAMTS10
10 coloboma of macula 29.4 VSX2 TFAP2A PAX6 CRYBA4 CRYAA
11 aniridia 1 29.4 VSX2 PAX6 CRYBA4 CRYAA
12 microphthalmia 29.1 VSX2 TFAP2A PAX6 CRYBA4 CRYAA
13 myopia 29.1 PAX6 P3H2 FBN1 CRYBA4 CRYAA ADAMTS17
14 amblyopia 28.9 TFAP2A PAX6 CRYBA4 CRYAA BFSP1
15 cataract 28.1 VSX2 PAX6 P3H2 MTHFR LOXL1 GALT
16 myopia, high, with cataract and vitreoretinal degeneration 11.6
17 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.3
18 retinal detachment 10.4
19 enophthalmos 10.4 TFAP2A FBN1
20 leukocoria 10.4 VSX2 CRYAA
21 coloboma of iris 10.4 TFAP2A PAX6
22 fryns microphthalmia syndrome 10.4 VSX2 PAX6
23 orbital disease 10.4 TFAP2A FBN1
24 grange syndrome 10.4 MTHFR CBS
25 microphthalmia, isolated 3 10.3 VSX2 PAX6
26 glaucoma-related pigment dispersion syndrome 10.3 PEX19 LOXL1
27 retinal vascular occlusion 10.3 MTHFR LOXL1 CRYAA
28 esotropia 10.2 TFAP2A PAX6 CRYAA
29 early-onset nuclear cataract 10.2 CRYAA BFSP1
30 pathologic nystagmus 10.2 TFAP2A PAX6 CRYAA
31 immature cataract 10.2 MPDU1 CRYAA
32 orbital cellulitis 10.2 MPDU1 CRYAA
33 dermatitis 10.2
34 acute orbital inflammation 10.2 MPDU1 CRYAA
35 steroid-induced glaucoma 10.2 PEX19 CRYAA
36 physical disorder 10.2 PAX6 MTHFR CRYAA
37 orofacial cleft 10.2 TFAP2A MTHFR FBN1 CRYAA
38 presbyopia 10.1 CRYAA BFSP1
39 exfoliation syndrome 10.1 MTHFR LOXL1 FBN1 CRYAA
40 eye accommodation disease 10.1 CRYAA BFSP1
41 cataract 31, multiple types 10.1 CRYAA BFSP1
42 phacogenic glaucoma 10.1 PEX19 LOXL1 FBN1 CRYAA
43 corneal edema 10.1
44 primary angle-closure glaucoma 10.1
45 macular retinal edema 10.1
46 microphthalmia, isolated 2 10.1 VSX2 PAX6
47 hydrophthalmos 10.1 PAX6 MPDU1
48 geleophysic dysplasia 10.1 FBN1 ADAMTSL2
49 morgagni cataract 10.0 PEX19 MPDU1 CRYAA
50 fundus dystrophy 10.0 VSX2 PAX6 FBN1 CRYAA

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 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.1 ADAMTS17
2 Decreased viability GR00381-A-1 10.1 ADAMTS10 ADAMTS17 GALT IQCK P3H2
3 Decreased viability GR00381-A-2 10.1 ADAMTS17
4 Decreased viability GR00381-A-3 10.1 ADAMTS17
5 Decreased viability GR00402-S-2 10.1 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 BFSP1 CBS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.03 SUOX
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.03 ADAMTS10
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 10.03 ADAMTS10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.03 ADAMTS10 P3H2 SUOX
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.03 SUOX
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.03 P3H2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.03 P3H2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.03 SUOX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.03 SUOX
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.03 SUOX
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.03 P3H2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.03 SUOX
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.03 SUOX
19 no effect GR00402-S-1 9.62 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 BFSP1 CBS

MGI Mouse Phenotypes related to Lens Subluxation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 ADAMTSL4 FBN1 PAX6 TFAP2A VSX2
2 vision/eye MP:0005391 9.23 ADAMTS10 ADAMTSL4 BFSP1 MTHFR P3H2 PAX6

Drugs & Therapeutics for Lens Subluxation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses: A Prospective Case Series Completed NCT01346566 Phase 3
2 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
3 Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT02790268
4 Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial) Recruiting NCT03276104
5 Anterior Segment Changes Before and After Uneventful Combined Phaco-Trabeculectomy by Using Optical Coherence Tomography (OCT) Recruiting NCT03626675
6 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Active, not recruiting NCT01784926
7 Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery Not yet recruiting NCT04062084

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 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 322)
# 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
Doubles trouble-85 cases of ocular trauma in badminton: clinical features and prevention. 61
30988018 2020
4
New surgical approach for sutureless scleral fixation. 61
32000520 2020
5
Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis. 61
31956572 2020
6
Epidemiology of Eye Injuries Resulting in Hospitalization, a Referral Hospital-Based Study. 61
32021063 2020
7
Femtosecond laser-assisted cataract surgery in a spherophakic lens: An unusual case report. 61
31689746 2019
8
Retinal break associated with traumatic lens dislocation or subluxation requiring vitrectomy. 61
31781882 2019
9
Eye injury and demographic parameters associated with poor visual outcome. 61
31122763 2019
10
Irreversible Ocular Lesions in a Dog With Angiostrongylus Vasorum Infection. 61
31472726 2019
11
Is specialized ophthalmologic evaluation necessary after orbital fractures? A prospective 64-case study. 61
31104221 2019
12
Intraoperative and postoperative complications of cataract surgery in eyes with pseudoexfoliation - An 8-year analysis. 61
31902990 2019
13
[Bilateral posterior lens subluxation in the context of physical abuse: Case report]. 61
31130383 2019
14
Neglected Congenital Glaucoma With Lens Coloboma. 61
31135584 2019
15
[Application of femtosecond laser technology in the management of subluxated lens]. 61
31340919 2019
16
Self-induced lens subluxation with avulsion of ciliary processes in Tourette Syndrome. 61
31008412 2019
17
[Scleral-fixated intraocular lenses with Z‑suture technique for lens subluxation associated with spherophakia]. 61
31222453 2019
18
Tadeusz Krwawicz, MD: The inventor of cryosurgery in ophthalmology. 61
30638059 2019
19
Bilateral lens subluxation in Marfan syndrome. 61
30517757 2019
20
Cataract surgery outcomes in eyes with chorioretinal coloboma. 61
31030778 2019
21
WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities. 61
31116317 2019
22
Cataract extraction in patients with primary congenital glaucoma. 61
30957520 2019
23
Clinical Features and Efficacy of Lens Surgery in Patients with Lens Subluxation Misdiagnosed as Primary Angle-Closure Glaucoma. 61
30426797 2019
24
Epidemiology and clinical presentation of feline cataracts in france: A retrospective study of 268 cases. 61
29508528 2019
25
Bilateral Phacoemulsification in an African Elephant (Loxodonta africana). 61
31380140 2019
26
Characteristic Manifestations regarding Ultrasound Biomicroscopy Morphological Data in the Diagnosis of Acute Angle Closure Secondary to Lens Subluxation. 61
31341905 2019
27
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. 61
30221735 2018
28
Zika and the Eye: Pieces of a Puzzle. 61
29698814 2018
29
BLINDNESS RELATED TO PRESUMED RETINAL TOXICITY AFTER USING PERFLUOROCARBON LIQUID DURING VITREORETINAL SURGERY. 61
28723847 2018
30
Statin use and vitreoretinal surgery: Findings from a Finnish population-based cohort study. 61
29338115 2018
31
Rabbits with naturally occurring cataracts referred for phacoemulsification and intraocular lens implantation: a preliminary study of 12 cases. 61
29205744 2018
32
A Case of a Ruptured Eyeball Caused by High-Pressure Water Jets. 61
29927474 2018
33
Bilateral Crystalline Lens Subluxation in a Child With Marfan Syndrome. 61
29902318 2018
34
Outcomes of lensectomy and risk factors for failure in spherophakic eyes with secondary glaucoma. 61
28928265 2018
35
[A preliminary observation of implanting a double-eyelet capsular tension ring in eyes with serious lens subluxation]. 61
29747365 2018
36
Advanced Midzonal Iris Pigment Epithelial Cyst Managed by Aspiration Deflation. 61
29765951 2018
37
Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System. 61
29511238 2018
38
A survey of ocular ultrasound abnormalities in horse: 145 cases. 61
29492841 2018
39
Comparative evaluation of rotational stability and visual outcome of toric intraocular lenses with and without a capsular tension ring. 61
29480253 2018
40
Rhegmatogenous retinal detachment in paediatric patients after pars plana vitrectomy and sutured scleral-fixated intraocular lenses. 61
28862256 2018
41
Surgical outcomes and complications of sutured scleral fixated intraocular lenses in pediatric eyes. 61
29426441 2018
42
[Surgical technique of retropupillary iris-claw fixated IOL reimplantation]. 61
29953088 2018
43
Role of 25 MHz Ultrasound Biomicroscopy in the Detection of Subluxated Lenses. 61
30416825 2018
44
[Femtosecond laser-assisted cataract surgery and conventional phacoemulsification cataract surgery in patients with lens subluxation]. 61
29953084 2018
45
Qualitative and quantitative evaluation of acute angle-closure mechanisms. 61
29228915 2017
46
Outcomes of Scleral-fixated Intraocular-lens in Children with Idiopathic Ectopia Lentis. 61
29422749 2017
47
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. 61
28617521 2017
48
An oblique bitoric rigid contact lens fitting for the management of lens subluxation in Marfan syndrome. 61
28868620 2017
49
Isolated Sulfite Oxidase Deficiency 61
28933809 2017
50
Visual outcomes after lensectomy and iris claw artisan intraocular lens implantation in patients with Marfan syndrome. 61
27709371 2017

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.364C>T (p.Arg122Cys)SNV Pathogenic 16440 rs137854467 15:48892414-48892414 15:48600217-48600217
2 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
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
11.72 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
2
Show member pathways
11.42 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
3
Show member pathways
10.81 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
4 10.16 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 collagen-containing extracellular matrix GO:0062023 9.56 LOXL1 FBN1 ADAMTSL4 ADAMTS10
2 basement membrane GO:0005604 9.33 P3H2 LOXL1 FBN1
3 extracellular matrix GO:0031012 9.26 LOXL1 FBN1 ADAMTSL4 ADAMTSL2
4 microfibril GO:0001527 8.62 FBN1 ADAMTS10

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 9.56 LOXL1 FBN1 ADAMTSL4 ADAMTSL2
2 visual perception GO:0007601 9.46 VSX2 PAX6 CRYBA4 CRYAA
3 camera-type eye development GO:0043010 9.13 PAX6 FBN1 CRYBA4
4 homocysteine metabolic process GO:0050667 8.62 MTHFR CBS

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

# Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.96 MTHFR CBS
2 structural constituent of eye lens GO:0005212 8.8 CRYBA4 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....