Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
IEL
MCID: ISL078
MIFTS: 56

Isolated Ectopia Lentis (IEL)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Isolated Ectopia Lentis

About this section

MalaCards integrated aliases for Isolated Ectopia Lentis:

Name: Isolated Ectopia Lentis 12 52 25 58 15
Ectopia Lentis 25 36 29 54 6 43
Familial Ectopia Lentis 12 52 58 43 71
Ectopia Lentis Syndrome 52 58
Lens Subluxation 25 71
Congenital Ectopia Lentis 25
Ectopia Lentis, Isolated 54
Ectopia Lentis Isolated 71
Subluxation of Lens 25
Iel 12

Characteristics:

Orphanet epidemiological data:

58
isolated ectopia lentis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111148
KEGG 36 H00662
ICD9CM 34 743.37
SNOMED-CT 67 74969002
ICD10 32 Q12.1
MESH via Orphanet 44 C536184 D004479
ICD10 via Orphanet 33 Q12.1
UMLS via Orphanet 72 C0013581 C1851286 C2746069
Orphanet 58 ORPHA1885
UMLS 71 C0013581 C0023316 C1851286 more
Sources

Summaries for Isolated Ectopia Lentis

About this section
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. Vision problems are common in isolated ectopia lentis. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. In a small number of people with isolated ectopia lentis, tearing of the back lining of the eye (retinal detachment) occurs, which can lead to further vision problems and possible blindness. In individuals with isolated ectopia lentis, each eye can be affected differently. In addition, the eye problems vary among affected individuals, even those within the same family. Ectopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome.

MalaCards based summary : Isolated Ectopia Lentis, also known as ectopia lentis, is related to lens subluxation and ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Isolated Ectopia Lentis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are HIV Life Cycle and Phospholipase-C Pathway. Affiliated tissues include eye, heart and bone, and related phenotypes are joint stiffness and ectopia lentis

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.

NIH Rare Diseases : 52 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 detachmen t (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.

KEGG : 36 Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL.

Wikipedia : 74 Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.... more...

Sources

Related Diseases for Isolated Ectopia Lentis

About this section

Diseases in the Isolated Ectopia Lentis family:

Ectopia Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases related to Isolated Ectopia Lentis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 lens subluxation 34.0 SUOX FBN1 CBS ADAMTSL4 ADAMTSL2 ADAMTS17
2 ectopia lentis 2, isolated, autosomal recessive 33.8 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
3 ectopia lentis 1, isolated, autosomal dominant 33.6 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
4 weill-marchesani syndrome 1 33.0 LTBP2 ADAMTS10
5 homocystinuria 30.8 SUOX FBN1 CBS
6 marden-walker syndrome 30.5 FBN2 FBN1
7 aortic aneurysm, familial thoracic 1 30.3 LTBP1 FBN2 FBN1
8 myopia 30.0 LTBP2 FBN1 ADAMTS17 ADAMTS10
9 marfan syndrome 29.9 THSD4 LTBP2 FBN3 FBN2 FBN1 CBS
10 loeys-dietz syndrome 29.9 LTBP1 FBN2 FBN1
11 orthostatic intolerance 29.7 TBRG1 FBN2 FBN1
12 primary congenital glaucoma 29.6 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
13 megalocornea 29.5 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
14 peters-plus syndrome 28.2 THSD4 PAPLN LTBP3 LTBP2 ADAMTSL5 ADAMTSL4
15 weill-marchesani syndrome 26.5 THSD4 TBRG1 SUOX PAPLN LTBP3 LTBP2
16 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 12.9
17 craniosynostosis with ectopia lentis 12.6
18 syndromic ectopia lentis 12.6
19 kniest-like dysplasia with pursed lips and ectopia lentis 12.5
20 syndromic genetic ectopia lentis 12.4
21 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 12.1
22 weill-marchesani syndrome 2 12.0
23 zazam sheriff phillips syndrome 11.8
24 mccune-albright syndrome 11.7
25 weill-marchesani syndrome 4 11.7
26 myopia, high, with cataract and vitreoretinal degeneration 11.6
27 noble bass sherman syndrome 11.6
28 anterior segment dysgenesis 1 11.5
29 anterior segment dysgenesis 4 11.5
30 homocystinuria due to cystathionine beta-synthase deficiency 11.5
31 anterior segment dysgenesis 7 11.5
32 anterior segment dysgenesis 3 11.5
33 anterior segment dysgenesis 5 11.5
34 anterior segment dysgenesis 2 11.5
35 anterior segment dysgenesis 6 11.5
36 anterior segment dysgenesis 8 11.5
37 anterior segment dysgenesis 11.5
38 schwartz-jampel syndrome, type 1 11.5
39 blepharoptosis, myopia, and ectopia lentis 11.4
40 weill-marchesani syndrome 3 11.4
41 marfanoid-progeroid-lipodystrophy syndrome 11.4
42 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.3
43 cataract 10.5
44 craniosynostosis 10.5
45 celiac disease 1 10.5
46 intraocular pressure quantitative trait locus 10.4
47 adamtsl4-related eye disorders 10.4
48 contractural arachnodactyly, congenital 10.4
49 isolated microspherophakia 10.3 LTBP2 ADAMTS10
50 ectopia lentis et pupillae 10.3

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



Diseases related to Isolated Ectopia Lentis
Sources

Symptoms & Phenotypes for Isolated Ectopia Lentis

About this section

Human phenotypes related to Isolated Ectopia Lentis:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001083
3 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
4 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
5 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
6 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
8 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
10 ectopia pupillae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009918
11 visual impairment 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Isolated Ectopia Lentis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.4 ADAMTS17
2 Decreased viability GR00381-A-1 9.4 ADAMTS17 FBN3 LTBP3
3 Decreased viability GR00381-A-2 9.4 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.4 ADAMTS17 FBN3 LTBP3
5 Decreased viability GR00402-S-2 9.4 ADAMTS17 FBN3 LTBP3
Sources

Drugs & Therapeutics for Isolated Ectopia Lentis

About this section

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 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
3 Prospective Study to Examine the Efficacy of a Capsular Tension Ring (CTR) in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome (XFS) With no Zonular Weakness Unknown status NCT01455168
4 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
5 Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT02790268
6 Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial) Recruiting NCT03276104
7 Anterior Segment Changes Before and After Uneventful Combined Phaco-Trabeculectomy by Using Optical Coherence Tomography (OCT) Recruiting NCT03626675
8 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Active, not recruiting NCT01784926
9 Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery Not yet recruiting NCT04062084

Search NIH Clinical Center for Isolated Ectopia Lentis

Cochrane evidence based reviews: ectopia lentis

Sources

Genetic Tests for Isolated Ectopia Lentis

About this section

Genetic tests related to Isolated Ectopia Lentis:

# Genetic test Affiliating Genes
1 Ectopia Lentis 29
Sources

Anatomical Context for Isolated Ectopia Lentis

About this section

MalaCards organs/tissues related to Isolated Ectopia Lentis:

40
Eye, Heart, Bone, T Cells, Lung, Skin, Testes
Sources

Publications for Isolated Ectopia Lentis

About this section

Articles related to Isolated Ectopia Lentis:

(show top 50) (show all 597)
# Title Authors PMID Year
1
Ectopia lentis phenotypes and the FBN1 gene. 54 61 6
15054843 2004
2
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 54 61 6
12446365 2002
3
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 54 61 6
11826022 2002
4
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 54 61 6
11700157 2001
5
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 54 61 6
7802039 1994
6
A novel mutation of the fibrillin gene causing ectopia lentis. 54 61 6
8188302 1994
7
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 61 6
22736615 2012
8
ADAMTSL4-Related Eye Disorders 61 6
22338190 2012
9
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 61 6
22539873 2012
10
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 61 6
21051722 2011
11
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 61 6
20702823 2010
12
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 61 6
20564469 2010
13
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 61 6
20141359 2010
14
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. 61 6
19200529 2009
15
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 61 6
17701892 2007
16
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 61 6
8136837 1994
17
Autosomal recessive ectopia lentis in two Arab family pedigrees. 61 6
2377351 1990
18
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
19
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 6
20375004 2010
20
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 6
17657824 2007
21
FBN1 mutations in patients with descending thoracic aortic dissections. 54 61
20082464 2010
22
[Computer construction and analysis of protein models of mutant fibrillin-1 gene in Marfan's syndrome]. 54 61
20021881 2009
23
Marfan syndrome and its disorder in periodontal tissues. 54 61
19199346 2009
24
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 54 61
19161152 2009
25
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families. 54 61
19390640 2009
26
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. 54 61
18615205 2008
27
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. 54 61
18079676 2007
28
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 54 61
17679947 2007
29
Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. 54 61
16765689 2006
30
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. 54 61
16476890 2006
31
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 54 61
16220557 2005
32
Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity. 54 61
16342915 2005
33
[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]. 54 61
15733436 2004
34
Isolated ectopia lentis: potential role of matrix metalloproteinases in fibrillin degradation. 54 61
14718307 2004
35
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 54 61
14695540 2004
36
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. 54 61
12203987 2002
37
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. 54 61
11596648 2001
38
The molecular genetics of Marfan syndrome and related microfibrillopathies. 54 61
10633129 2000
39
Reduction of false negative results in screening of newborns for homocystinuria. 54 61
10564686 1999
40
Congenital ectopia lentis. A Danish national survey. 54 61
9541430 1998
41
A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. 54 61
9430549 1998
42
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. 54 61
9401003 1997
43
Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects. 54 61
7897619 1995
44
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 54 61
7870075 1994
45
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients. 61
31806255 2020
46
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study. 61
31825148 2020
47
Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis. 61
31956572 2020
48
Outcomes and complications of iris-fixated intraocular lenses in cases with inadequate capsular support and complex ophthalmic history. 61
31900437 2020
49
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. 61
31848469 2019
50
Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. 61
31201465 2019
Sources

Variations for Isolated Ectopia Lentis

About this section

ClinVar genetic disease variations for Isolated Ectopia Lentis:

6 (show top 50) (show all 239) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 NM_019032.5(ADAMTSL4):c.767_786del (p.Gln256fs)deletion Pathogenic 39555 rs199473693 1:150526234-150526253 1:150553750-150553769
2 FBN1 NM_000138.4(FBN1):c.5788+5G>ASNV Pathogenic 42394 rs193922219 15:48738898-48738898 15:48446701-48446701
3 FBN1 NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp)SNV Likely pathogenic 374081 rs1057518883 15:48707768-48707768 15:48415571-48415571
4 FBN1 NM_000138.4(FBN1):c.478T>C (p.Cys160Arg)SNV Likely pathogenic 374203 rs1057518973 15:48888540-48888540 15:48596343-48596343
5 FBN1 NM_000138.4(FBN1):c.5672-15C>GSNV Conflicting interpretations of pathogenicity 316372 rs776163620 15:48739034-48739034 15:48446837-48446837
6 FBN1 NM_000138.4(FBN1):c.8202C>T (p.Asn2734=)SNV Conflicting interpretations of pathogenicity 316362 rs113904256 15:48704790-48704790 15:48412593-48412593
7 FBN1 NM_000138.4(FBN1):c.1602T>C (p.Cys534=)SNV Conflicting interpretations of pathogenicity 316384 rs377386372 15:48802353-48802353 15:48510156-48510156
8 FBN1 NM_000138.4(FBN1):c.6801C>T (p.Asn2267=)SNV Conflicting interpretations of pathogenicity 316366 rs886051245 15:48722938-48722938 15:48430741-48430741
9 FBN1 NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
10 FBN1 NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
11 FBN1 NM_000138.4(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
12 FBN1 NM_000138.4(FBN1):c.5917+3A>GSNV Conflicting interpretations of pathogenicity 199950 rs202158568 15:48737570-48737570 15:48445373-48445373
13 FBN1 NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)SNV Conflicting interpretations of pathogenicity 200027 rs200342067 15:48773926-48773926 15:48481729-48481729
14 FBN1 NM_000138.4(FBN1):c.902G>T (p.Gly301Val)SNV Conflicting interpretations of pathogenicity 199960 rs142888621 15:48818413-48818413 15:48526216-48526216
15 FBN1 NM_000138.4(FBN1):c.6314-15G>ASNV Conflicting interpretations of pathogenicity 228686 rs200841830 15:48729599-48729599 15:48437402-48437402
16 FBN1 NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)SNV Conflicting interpretations of pathogenicity 16445 rs61746008 15:48704816-48704816 15:48412619-48412619
17 FBN1 NM_000138.4(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
18 FBN1 NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)SNV Conflicting interpretations of pathogenicity 161244 rs146726731 15:48812976-48812976 15:48520779-48520779
19 FBN1 NM_000138.4(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
20 FBN1 NM_000138.4(FBN1):c.-176A>TSNV Conflicting interpretations of pathogenicity 137300 rs560004254 15:48937142-48937142 15:48644945-48644945
21 FBN1 NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)SNV Conflicting interpretations of pathogenicity 237106 rs187553035 15:48704843-48704843 15:48412646-48412646
22 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)SNV Conflicting interpretations of pathogenicity 263832 rs143007898 15:48703440-48703440 15:48411243-48411243
23 FBN1 NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)SNV Conflicting interpretations of pathogenicity 263431 rs149697299 15:48719912-48719912 15:48427715-48427715
24 FBN1 NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)SNV Conflicting interpretations of pathogenicity 263632 rs375996640 15:48780684-48780684 15:48488487-48488487
25 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1007G>A (p.Gly336Asp)SNV Conflicting interpretations of pathogenicity 292525 rs142354320 1:150526474-150526474 1:150553998-150553998
26 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2829G>A (p.Thr943=)SNV Conflicting interpretations of pathogenicity 292560 rs76546607 1:150531828-150531828 1:150559352-150559352
27 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu)SNV Conflicting interpretations of pathogenicity 292544 rs115937511 1:150530009-150530009 1:150557533-150557533
28 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2288C>G (p.Pro763Arg)SNV Conflicting interpretations of pathogenicity 292549 rs56055939 1:150530531-150530531 1:150558055-150558055
29 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2288C>T (p.Pro763Leu)SNV Conflicting interpretations of pathogenicity 292550 rs56055939 1:150530531-150530531 1:150558055-150558055
30 ADAMTSL4 NM_019032.5(ADAMTSL4):c.920G>A (p.Arg307Gln)SNV Conflicting interpretations of pathogenicity 292523 rs142705142 1:150526387-150526387 1:150553911-150553911
31 ADAMTSL4 NM_019032.5(ADAMTSL4):c.3179G>A (p.Arg1060His)SNV Conflicting interpretations of pathogenicity 292567 rs147697821 1:150532626-150532626 1:150560150-150560150
32 FBN1 NM_000138.4(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
33 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 292527 rs370107497 1:150526499-150526499 1:150554023-150554023
34 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=)SNV Conflicting interpretations of pathogenicity 292562 rs148110558 1:150531882-150531882 1:150559406-150559406
35 ADAMTSL4 NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln)SNV Conflicting interpretations of pathogenicity 292522 rs145673891 1:150526216-150526216 1:150553740-150553740
36 FBN1 NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln)SNV Conflicting interpretations of pathogenicity 316364 rs199522781 15:48713793-48713793 15:48421596-48421596
37 FBN1 NM_000138.4(FBN1):c.5724A>G (p.Thr1908=)SNV Conflicting interpretations of pathogenicity 316371 rs141219664 15:48738967-48738967 15:48446770-48446770
38 FBN1 NM_000138.4(FBN1):c.3337+11G>ASNV Conflicting interpretations of pathogenicity 316378 rs368726848 15:48780299-48780299 15:48488102-48488102
39 FBN1 NM_000138.4(FBN1):c.723G>A (p.Thr241=)SNV Uncertain significance 316389 rs757264206 15:48829821-48829821 15:48537624-48537624
40 FBN1 NM_000138.4(FBN1):c.589G>C (p.Gly197Arg)SNV Uncertain significance 316390 rs886051251 15:48829955-48829955 15:48537758-48537758
41 FBN1 NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn)SNV Uncertain significance 316368 rs886051247 15:48730014-48730014 15:48437817-48437817
42 FBN1 NM_000138.4(FBN1):c.5788+4C>ASNV Uncertain significance 316370 rs577301285 15:48738899-48738899 15:48446702-48446702
43 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His)SNV Uncertain significance 292559 rs202037366 1:150531794-150531794 1:150559318-150559318
44 FBN1 NM_000138.4(FBN1):c.*202_*203deldeletion Uncertain significance 316358 rs766125141 15:48702984-48702985 15:48410787-48410788
45 FBN1 NM_000138.4(FBN1):c.*1733A>GSNV Uncertain significance 316322 rs886051230 15:48701454-48701454 15:48409257-48409257
46 FBN1 NM_000138.4(FBN1):c.*948G>TSNV Uncertain significance 316347 rs749224599 15:48702239-48702239 15:48410042-48410042
47 FBN1 NM_000138.4(FBN1):c.*938G>TSNV Uncertain significance 316348 rs886051238 15:48702249-48702249 15:48410052-48410052
48 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr)SNV Uncertain significance 292526 rs374008923 1:150526476-150526476 1:150554000-150554000
49 FBN1 NM_000138.4(FBN1):c.*2114T>ASNV Uncertain significance 316312 rs886051227 15:48701073-48701073 15:48408876-48408876
50 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*295G>CSNV Uncertain significance 292571 rs114181942 1:150532967-150532967 1:150560491-150560491

Copy number variations for Isolated Ectopia Lentis from CNVD:

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

Expression for Isolated Ectopia Lentis

About this section
Search GEO for disease gene expression data for Isolated Ectopia Lentis.
Sources

Pathways for Isolated Ectopia Lentis

About this section

Pathways related to Isolated Ectopia Lentis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
HIV Life Cycle 65
Show member pathways
 13.48 THSD4 FAM114A2 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
2
Phospholipase-C Pathway 63
Show member pathways
 12.87 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
3
Degradation of the extracellular matrix 65
Show member pathways
 12.53 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
4
NF-KappaB Family Pathway 63
Show member pathways
 12.46 TBRG1 LTBP3 LTBP2 LTBP1
5
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.02 TBRG1 LTBP3 LTBP2 LTBP1
6
O-linked glycosylation 65
Show member pathways
 12.02 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
7
Diseases of glycosylation 65
Show member pathways
 11.72 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
8
Elastic fibre formation 65
Show member pathways
 11.66 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
9
TGF-beta signaling pathway (KEGG) 36
11.63 THSD4 LTBP1 FBN1
10
G-protein signaling_RhoA regulation pathway 22
11.49 TBRG1 LTBP3 LTBP2 LTBP1
11
O-glycosylation of TSR domain-containing proteins 65
Show member pathways
 11.11 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
12
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
11.05 LTBP2 LTBP1 FBN3 FBN2 FBN1
13
superpathway of methionine degradation 1
Show member pathways
 10.94 SUOX CBS
14
G-protein signaling_Rap2B regulation pathway 22
10.82 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
Sources

GO Terms for Isolated Ectopia Lentis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.03 THSD4 PAPLN LTBP3 LTBP2 LTBP1 FBN3
2 collagen-containing extracellular matrix GO:0062023 9.86 THSD4 LTBP3 LTBP2 LTBP1 FBN2 FBN1
3 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 ADAMTSL4 ADAMTSL1
4 extracellular matrix GO:0031012 9.61 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
5 microfibril GO:0001527 9.1 THSD4 LTBP1 FBN2 FBN1 ADAMTSL5 ADAMTS10

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 9.56 FBN2 FBN1 ADAMTSL4 ADAMTSL2
2 proteolysis GO:0006508 9.56 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3 embryonic eye morphogenesis GO:0048048 9.16 FBN2 FBN1
4 sequestering of TGFbeta in extracellular matrix GO:0035583 8.8 LTBP1 FBN2 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.8 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
2 peptidase activity GO:0008233 9.76 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3 growth factor binding GO:0019838 9.43 LTBP3 LTBP2 LTBP1
4 transforming growth factor beta binding GO:0050431 9.4 LTBP3 LTBP1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.37 FBN2 FBN1
6 microfibril binding GO:0050436 9.13 LTBP2 LTBP1 ADAMTSL2
7 extracellular matrix structural constituent GO:0005201 9.1 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
Sources

Sources for Isolated Ectopia Lentis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....