MCID: ISL078
MIFTS: 37

Isolated Ectopia Lentis

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

Aliases & Classifications for Isolated Ectopia Lentis

MalaCards integrated aliases for Isolated Ectopia Lentis:

Name: Isolated Ectopia Lentis 49 24 55
Ectopia Lentis 24 36 28 51
Familial Ectopia Lentis 49 55 69
Ectopia Lentis Syndrome 49 55
Lens Subluxation 24 69
Congenital Ectopia Lentis 24
Ectopia Lentis, Isolated 51
Ectopia Lentis Isolated 69
Subluxation of Lens 24

Characteristics:

Orphanet epidemiological data:

55
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:

Orphanet 55 ORPHA1885
MESH via Orphanet 42 C536184 D004479
UMLS via Orphanet 70 C0013581 C1851286 C2746069
ICD10 via Orphanet 33 Q12.1
KEGG 36 H00662

Summaries for Isolated Ectopia Lentis

NIH Rare Diseases : 49 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. Last updated: 4/12/2016

MalaCards based summary : Isolated Ectopia Lentis, also known as ectopia lentis, is related to lens subluxation and marfan syndrome, and has symptoms including malar flattening, mandibular prognathia and visual impairment. 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 and bone.

Genetics Home Reference : 24 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.

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:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
2 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
3 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
4 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 amblyopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000646
7 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
8 ectopia lentis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001083
9 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ectopia pupillae 55 31 occasional (7.5%) Occasional (29-5%) HP:0009918
11 cognitive impairment 55 31 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

Genetic Tests for Isolated Ectopia Lentis

Genetic tests related to Isolated Ectopia Lentis:

# Genetic test Affiliating Genes
1 Ectopia Lentis 28

Anatomical Context for Isolated Ectopia Lentis

MalaCards organs/tissues related to Isolated Ectopia Lentis:

38
Eye, Bone

Publications for Isolated Ectopia Lentis

Articles related to Isolated Ectopia Lentis:

(show all 11)
# Title Authors Year
1
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. ( 25975359 )
2015
2
Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. ( 24802351 )
2014
3
The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. ( 24635535 )
2014
4
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). ( 22950452 )
2013
5
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ( 22736615 )
2012
6
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. ( 22539873 )
2012
7
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )
2011
8
Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. ( 22219643 )
2011
9
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ( 19200529 )
2009
10
Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. ( 16765689 )
2006
11
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
# 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

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 proteinaceous extracellular matrix GO:0005578 8.96 ADAMTSL4 FBN1
2 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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