Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation 12 29 55 6 44 15 73
Subluxation of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11364
ICD10 33 H27.11
ICD9CM 35 379.32
MeSH 44 D007906
NCIt 50 C34772
SNOMED-CT 68 65814009
UMLS 73 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 is Folate-Alcohol and Cancer Pathway. Affiliated tissues include eye, and related phenotypes are pigmentation and vision/eye

Wikipedia : 76 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 all 42)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 33.3 CBS FBN1
2 marfan syndrome 30.4 CBS FBN1
3 homocystinuria 30.0 CBS FBN1 MTHFR
4 primary angle-closure glaucoma 30.0 MTHFR VSX2
5 cataract 29.9 CRYBA2 GALT P3H2
6 homocysteinemia 29.8 CBS MTHFR
7 myopia, high, with cataract and vitreoretinal degeneration 11.2
8 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.2
9 rare isolated myopia 10.1 FBN1 P3H2
10 retinal detachment 10.1
11 megalocornea 10.1
12 myopia 10.1
13 exfoliation syndrome 10.0 FBN1 MTHFR
14 grange syndrome 10.0 CBS MTHFR
15 cystathioninuria 10.0 CBS MTHFR
16 amino acid metabolic disorder 10.0 CBS MTHFR
17 myelomeningocele 10.0 CBS MTHFR
18 glycine n-methyltransferase deficiency 10.0 CBS MTHFR
19 char syndrome 10.0 FBN1 TFAP2A
20 thrombophilia due to thrombin defect 9.9 CBS MTHFR
21 alagille syndrome 1 9.9
22 persistent hyperplastic primary vitreous, autosomal recessive 9.9
23 glaucoma 3, primary congenital, a 9.9
24 lipoid proteinosis of urbach and wiethe 9.9
25 mycosis fungoides 9.9
26 retinitis pigmentosa 9.9
27 focal dermal hypoplasia 9.9
28 glaucoma 3, primary infantile, b 9.9
29 astigmatism 9.9
30 dermatitis, atopic 9.9
31 leber congenital amaurosis 4 9.9
32 loeys-dietz syndrome 9.9
33 primary congenital glaucoma 9.9
34 open-angle glaucoma 9.9
35 uveitis 9.9
36 acute closed-angle glaucoma 9.9
37 dermatitis 9.9
38 retinitis 9.9
39 blepharospasm 9.9
40 headache 9.9
41 facial paralysis 9.9
42 coloboma of macula 9.7 TFAP2A VSX2

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



Diseases related to Lens Subluxation

Symptoms & Phenotypes for Lens Subluxation

MGI Mouse Phenotypes related to Lens Subluxation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.13 FBN1 TFAP2A VSX2
2 vision/eye MP:0005391 9.02 CRYBA2 MTHFR P3H2 TFAP2A VSX2

Drugs & Therapeutics for Lens Subluxation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT01346566 Phase 3
2 Biometry of Occult Lens Subluxation Misdiagnosed as Primary Acute Angle Closed Glaucoma 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 Recruiting NCT03276104 Not Applicable
5 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Active, not recruiting NCT01784926 Not Applicable

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:

41
Eye

Publications for Lens Subluxation

Articles related to Lens Subluxation:

(show top 50) (show all 75)
# Title Authors Year
1
Bilateral Crystalline Lens Subluxation in a Child With Marfan Syndrome. ( 29902318 )
2018
2
Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System. ( 29511238 )
2018
3
Clinical Features and Efficacy of Lens Surgery in Patients with Lens Subluxation Misdiagnosed as Primary Angle-Closure Glaucoma. ( 30426797 )
2018
4
Bilateral Lens Subluxation in Marfan syndrome. ( 30517757 )
2018
5
An oblique bitoric rigid contact lens fitting for the management of lens subluxation in Marfan syndrome. ( 28868620 )
2017
6
Occult lens subluxation related to laser peripheral iridotomy: A case report and literature review. ( 28272229 )
2017
7
Surgical Management of a Patient with Anterior Megalophthalmos, Lens Subluxation, and a High Risk of Retinal Detachment. ( 28203198 )
2017
8
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. ( 27009512 )
2016
9
Pathologic evidence of pseudoexfoliation in cases of in-the-bag intraocular lens subluxation or dislocation. ( 25935341 )
2015
10
Single suture iris-to-capsulorhexis fixation for in-the-bag intraocular lens subluxation. ( 26703481 )
2015
11
Unilateral fronto-temporal headache with ocular pain caused by lens subluxation due to spontaneous zonulysis. ( 27752586 )
2015
12
Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. ( 25469533 )
2015
13
Multiple methods of surgical treatment combined with primary IOL implantation on traumatic lens subluxation/dislocation in patients with secondary glaucoma. ( 24790868 )
2014
14
Intraocular lens subluxation in marfan syndrome. ( 25279020 )
2014
15
Traumatic lens subluxation presenting as pseudomelanoma. ( 25127532 )
2014
16
Lens Subluxation after Plasmin and SF6 Injections in Rabbit Eyes. ( 25397749 )
2014
17
Surgical management of lens subluxation in Marfan syndrome. ( 24698610 )
2014
18
Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. ( 24698609 )
2014
19
Bilateral and Simultaneous Intraocular Lens Subluxation in Essential Blepharospasm. ( 30363886 )
2014
20
Sudden visual loss: intraocular lens subluxation. ( 25225194 )
2014
21
Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation. ( 24001013 )
2013
22
Traumatic in-the-bag intraocular lens subluxation. ( 24088929 )
2013
23
A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. ( 23898221 )
2013
24
Retrospective review of visual outcome in operated lens subluxation. ( 24145937 )
2013
25
Lens subluxation with stretched ciliary processes in a girl with Goltz syndrome. ( 24923086 )
2013
26
In-the-bag capsular tension ring and intraocular lens subluxation or dislocation: a series of 23 cases. ( 22154537 )
2012
27
Comparison of clinical outcomes between iris-fixated anterior chamber intraocular lenses and scleral-fixated posterior chamber intraocular lenses in Marfan syndrome with lens subluxation. ( 21668788 )
2012
28
Ocular photography contest. Grand prize: anterior segment: Crystalline lens subluxation with intact zonules in patient with Marfana89s syndrome. ( 23281527 )
2012
29
Scleral fixation of standard capsular tension ring and in-the-bag intraocular lens implantation in patients with severe lens subluxation. ( 23053778 )
2012
30
Pentacam-aided diagnosis of traumatic lens subluxation. ( 22491583 )
2012
31
Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R anda88/or G1391A mutations. ( 20222886 )
2011
32
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation. ( 21626167 )
2011
33
Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report. ( 21320335 )
2011
34
Bilateral lens subluxation in a patient with suspected Loeys-Dietz syndrome. ( 21478606 )
2011
35
Treatment of severe crystalline lens subluxation. ( 20457402 )
2010
36
Red reflex mimicking lens subluxation in a child undergoing orthokeratology. ( 19300465 )
2010
37
Management of traumatic crystalline lens subluxation and dislocation. ( 20057305 )
2010
38
Chronic newborn primary congenital glaucoma with secondary lens subluxation. ( 19645394 )
2009
39
Angle closure glaucoma and lens subluxation secondary to eye rubbing in a patient with mycosis fungoides. ( 19845227 )
2009
40
Primary anterior chamber intraocular lens for the treatment of severe crystalline lens subluxation. ( 19781480 )
2009
41
Bilateral intraocular lens subluxation secondary to haptic angulation. ( 18361996 )
2008
42
Phacoemulsification using iris hooks and scleral fixation of the intraocular lens in patients with secondary glaucoma associated with lens subluxation. ( 17585310 )
2008
43
Late-onset crystalline lens subluxation after diode laser cyclophotocoagulation. ( 18983561 )
2008
44
Bilateral lens subluxation in a case of lipoid proteinosis. ( 17662444 )
2007
45
Anterior axial lens subluxation, progressive myopia, and angle-closure glaucoma: recognition and treatment of atypical presentation of ectopia lentis. ( 16935236 )
2006
46
Bilateral lens subluxation associated with atopic eczema. ( 15945013 )
2005
47
Spontaneous, late, in-the-bag intraocular lens subluxation in a patient with a previous acute angle-closure glaucoma attack. ( 15313313 )
2004
48
Iridoschisis and bilateral lens subluxation associated with periocular eczema. ( 14967294 )
2004
49
Iridoschisis associated with lens subluxation. ( 15342034 )
2004
50
Lens subluxation following contact transscleral cyclodiode. ( 12365925 )
2002

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh37 Chromosome 15, 48892414: 48892414
2 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh38 Chromosome 15, 48600217: 48600217
3 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh37 Chromosome 15, 48805853: 48805853
4 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh38 Chromosome 15, 48513656: 48513656
5 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
6 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694

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 9.53 CBS MTHFR

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 8.62 FBN1 P3H2

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

# Name GO ID Score Top Affiliating Genes
1 homocysteine metabolic process GO:0050667 8.62 CBS MTHFR

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 8.62 CBS MTHFR

Sources for Lens Subluxation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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