MCID: ISL078
MIFTS: 36

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 50 25 56
Familial Ectopia Lentis 50 56 69
Ectopia Lentis 25 29 52
Ectopia Lentis, Isolated 24 52
Ectopia Lentis Syndrome 50 56
Lens Subluxation 25 69
Congenital Ectopia Lentis 25
Ectopia Lentis Isolated 69
Subluxation of Lens 25

Characteristics:

Orphanet epidemiological data:

56
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 56 ORPHA1885
MESH via Orphanet 43 C536184 D004479
UMLS via Orphanet 70 C0013581 C1851286 C2746069
ICD10 via Orphanet 34 Q12.1

Summaries for Isolated Ectopia Lentis

NIH Rare Diseases : 50 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 familial ectopia lentis, is related to lens subluxation and ectopia lentis, isolated, autosomal recessive, 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 : 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.

Wikipedia : 72 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:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
2 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 amblyopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000646
7 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
8 ectopia lentis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001083
9 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ectopia pupillae 56 32 occasional (7.5%) Occasional (29-5%) HP:0009918
11 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543

Drugs & Therapeutics for Isolated Ectopia Lentis

Search Clinical Trials , NIH Clinical Center for Isolated Ectopia Lentis

Genetic Tests for Isolated Ectopia Lentis

Genetic tests related to Isolated Ectopia Lentis:

id Genetic test Affiliating Genes
1 Ectopia Lentis 29
2 Ectopia Lentis, Isolated 24 FBN1

Anatomical Context for Isolated Ectopia Lentis

MalaCards organs/tissues related to Isolated Ectopia Lentis:

39
Eye, Bone

Publications for Isolated Ectopia Lentis

Articles related to Isolated Ectopia Lentis:

(show all 11)
id 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
Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. ( 22219643 )
2011
8
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )
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
id 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
id 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:

id 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:

id 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:

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

Sources for Isolated Ectopia Lentis

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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