MCID: ISL078
MIFTS: 42

Isolated Ectopia Lentis

Categories: Rare diseases, Eye diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Isolated Ectopia Lentis

MalaCards integrated aliases for Isolated Ectopia Lentis:

Name: Isolated Ectopia Lentis 12 53 25 59
Ectopia Lentis 25 37 29 55 6 44
Familial Ectopia Lentis 12 53 59 44 73
Ectopia Lentis Syndrome 53 59
Lens Subluxation 25 73
Congenital Ectopia Lentis 25
Ectopia Lentis, Isolated 55
Ectopia Lentis Isolated 73
Subluxation of Lens 25
Iel 12

Characteristics:

Orphanet epidemiological data:

59
isolated ectopia lentis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0111148
Orphanet 59 ORPHA1885
MESH via Orphanet 45 D004479 C536184
UMLS via Orphanet 74 C0013581 C1851286 C2746069
ICD10 via Orphanet 34 Q12.1
KEGG 37 H00662

Summaries for Isolated Ectopia Lentis

NIH Rare Diseases : 53 Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by mutations in either the FBN1 or ADAMTSL4 gene. When caused by a mutation in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a mutation in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner. The primary goal of treatment is preventing amblyopia (lazy eye) through early correction of astigmatism. Surgical intervention including lensectomy (removal of the lens) may be considered in cases where vision is significantly affected.

MalaCards based summary : Isolated Ectopia Lentis, also known as ectopia lentis, is related to lens subluxation and marfan syndrome. An important gene associated with Isolated Ectopia Lentis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Sulfur amino acid metabolism and superpathway of methionine degradation. Affiliated tissues include eye, bone and skin, and related phenotypes are malar flattening and mandibular prognathia

Genetics Home Reference : 25 Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time.

Disease Ontology : 12 A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.

Wikipedia : 76 Ectopia lentis is a displacement or malposition of the eye\'s crystalline lens from its normal location.... more...

Related Diseases for Isolated Ectopia Lentis

Graphical network of the top 20 diseases related to Isolated Ectopia Lentis:



Diseases related to Isolated Ectopia Lentis

Symptoms & Phenotypes for Isolated Ectopia Lentis

Human phenotypes related to Isolated Ectopia Lentis:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
3 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
7 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
8 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001083
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ectopia pupillae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009918
11 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543

Drugs & Therapeutics for Isolated Ectopia Lentis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
2 Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome Unknown status NCT01455168

Search NIH Clinical Center for Isolated Ectopia Lentis

Cochrane evidence based reviews: ectopia lentis

Genetic Tests for Isolated Ectopia Lentis

Genetic tests related to Isolated Ectopia Lentis:

# Genetic test Affiliating Genes
1 Ectopia Lentis 29

Anatomical Context for Isolated Ectopia Lentis

MalaCards organs/tissues related to Isolated Ectopia Lentis:

41
Eye, Bone, Skin

Publications for Isolated Ectopia Lentis

Articles related to Isolated Ectopia Lentis:

(show top 50) (show all 85)
# Title Authors Year
1
Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis. ( 29854424 )
2018
2
PARS PLANA VITRECTOMY AND LENSECTOMY FOR ECTOPIA LENTIS WITH AND WITHOUT THE INDUCTION OF A POSTERIOR VITREOUS DETACHMENT. ( 28207607 )
2017
3
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. ( 28394649 )
2017
4
Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis. ( 28823347 )
2017
5
Capsular bag stabilization during lens extraction and intraocular lens implantation in cases of Marfan syndrome withA ectopia lentis using ultra-high-viscosity ophthalmic viscosurgical devices. ( 27839592 )
2016
6
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome. ( 28028488 )
2016
7
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
8
Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome. ( 27382335 )
2016
9
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. ( 26653794 )
2016
10
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. ( 25982157 )
2015
11
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. ( 25975359 )
2015
12
Atypical presentation of ectopia lentis in homocystinuria. ( 25662830 )
2015
13
Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. ( 25900864 )
2015
14
Prevalence of ectopia lentis and retinal detachment in Marfan syndrome. ( 23786577 )
2014
15
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family. ( 24940037 )
2014
16
Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. ( 24802351 )
2014
17
Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. ( 25498110 )
2014
18
The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. ( 24635535 )
2014
19
Ectopia lentis associated with primary congenital glaucoma. ( 23483508 )
2013
20
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. ( 22871183 )
2013
21
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. ( 23426735 )
2013
22
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. ( 24339607 )
2013
23
Retinitis pigmentosa associated with ectopia lentis in a patient with Marfan syndrome. ( 23514654 )
2013
24
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). ( 22950452 )
2013
25
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ( 22736615 )
2012
26
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. ( 22539873 )
2012
27
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma. ( 22034023 )
2012
28
Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. ( 22393277 )
2012
29
Ectopia lentis as the presenting and primary feature in Marfan syndrome. ( 21932315 )
2011
30
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )
2011
31
Angle closure glaucoma associated with ectopia lentis in a patient with Sturge-Weber syndrome. ( 21546921 )
2011
32
Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. ( 22219643 )
2011
33
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. ( 20141359 )
2010
34
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ( 20564469 )
2010
35
Transscleral intraocular lens fixation with preservation of the anterior vitreous face in patients with marfan syndrome and ectopia lentis. ( 20935537 )
2010
36
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ( 20702823 )
2010
37
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families. ( 19390640 )
2009
38
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. ( 19836009 )
2009
39
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ( 19200529 )
2009
40
The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. ( 18471089 )
2008
41
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. ( 17679947 )
2007
42
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. ( 18087243 )
2007
43
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. ( 18079676 )
2007
44
Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. ( 16765689 )
2006
45
Anterior axial lens subluxation, progressive myopia, and angle-closure glaucoma: recognition and treatment of atypical presentation of ectopia lentis. ( 16935236 )
2006
46
Management of bilateral ectopia lentis et pupillae syndrome. ( 16468556 )
2006
47
Ectopia lentis et pupillae: report of a unilateral case and surgical management. ( 16315041 )
2006
48
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
49
Functional and structural outcomes following lensectomy for ectopia lentis. ( 16102486 )
2005
50
Isolated ectopia lentis: potential role of matrix metalloproteinases in fibrillin degradation. ( 14718307 )
2004

Variations for Isolated Ectopia Lentis

ClinVar genetic disease variations for Isolated Ectopia Lentis:

6
(show top 50) (show all 396)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5788+5G> A single nucleotide variant Pathogenic rs193922219 GRCh37 Chromosome 15, 48738898: 48738898
2 FBN1 NM_000138.4(FBN1): c.5788+5G> A single nucleotide variant Pathogenic rs193922219 GRCh38 Chromosome 15, 48446701: 48446701
3 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
4 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
5 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
6 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
7 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
8 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
9 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
10 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
11 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
12 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
13 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
14 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
15 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
16 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
17 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
18 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
19 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
20 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
21 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
22 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
23 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
24 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
25 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
26 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683
27 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh37 Chromosome 15, 48826356: 48826356
28 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh38 Chromosome 15, 48534159: 48534159
29 ADAMTSL4 NM_019032.5(ADAMTSL4): c.577G> C (p.Ala193Pro) single nucleotide variant Benign rs41317515 GRCh37 Chromosome 1, 150526044: 150526044
30 ADAMTSL4 NM_019032.5(ADAMTSL4): c.577G> C (p.Ala193Pro) single nucleotide variant Benign rs41317515 GRCh38 Chromosome 1, 150553568: 150553568
31 ADAMTSL4 NM_019032.5(ADAMTSL4): c.939C> T (p.Gly313=) single nucleotide variant Benign rs6681639 GRCh37 Chromosome 1, 150526406: 150526406
32 ADAMTSL4 NM_019032.5(ADAMTSL4): c.939C> T (p.Gly313=) single nucleotide variant Benign rs6681639 GRCh38 Chromosome 1, 150553930: 150553930
33 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1098G> A (p.Gly366=) single nucleotide variant Likely benign rs75477151 GRCh37 Chromosome 1, 150526565: 150526565
34 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1098G> A (p.Gly366=) single nucleotide variant Likely benign rs75477151 GRCh38 Chromosome 1, 150554089: 150554089
35 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2442T> C (p.Asn814=) single nucleotide variant Benign rs10888382 GRCh37 Chromosome 1, 150531008: 150531008
36 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2442T> C (p.Asn814=) single nucleotide variant Benign rs10888382 GRCh38 Chromosome 1, 150558532: 150558532
37 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs10749657 GRCh37 Chromosome 1, 150531050: 150531050
38 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs10749657 GRCh38 Chromosome 1, 150558574: 150558574
39 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh38 Chromosome 15, 48411243: 48411243
40 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh37 Chromosome 15, 48703440: 48703440
41 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh38 Chromosome 15, 48427715: 48427715
42 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh37 Chromosome 15, 48719912: 48719912
43 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh37 Chromosome 15, 48780684: 48780684
44 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh38 Chromosome 15, 48488487: 48488487
45 ADAMTSL4 NM_019032.5(ADAMTSL4): c.514C> T (p.Arg172Cys) single nucleotide variant Uncertain significance rs375564357 GRCh37 Chromosome 1, 150525981: 150525981
46 ADAMTSL4 NM_019032.5(ADAMTSL4): c.514C> T (p.Arg172Cys) single nucleotide variant Uncertain significance rs375564357 GRCh38 Chromosome 1, 150553505: 150553505
47 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1007G> A (p.Gly336Asp) single nucleotide variant Uncertain significance rs142354320 GRCh37 Chromosome 1, 150526474: 150526474
48 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1007G> A (p.Gly336Asp) single nucleotide variant Uncertain significance rs142354320 GRCh38 Chromosome 1, 150553998: 150553998
49 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1131G> A (p.Ala377=) single nucleotide variant Uncertain significance rs749108523 GRCh37 Chromosome 1, 150526598: 150526598
50 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1131G> A (p.Ala377=) single nucleotide variant Uncertain significance rs749108523 GRCh38 Chromosome 1, 150554122: 150554122

Copy number variations for Isolated Ectopia Lentis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 19132 1 148788521 148800036 Microdeletion ADAMTSL4 Ectopia Lentis

Expression for Isolated Ectopia Lentis

Search GEO for disease gene expression data for Isolated Ectopia Lentis.

Pathways for Isolated Ectopia Lentis

GO Terms for Isolated Ectopia Lentis

Cellular components related to Isolated Ectopia Lentis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 ADAMTSL4 FBN1

Biological processes related to Isolated Ectopia Lentis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 ADAMTSL4 FBN1

Molecular functions related to Isolated Ectopia Lentis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.62 CBS SUOX

Sources for Isolated Ectopia Lentis

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
Content
Loading form....