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IEL
MCID: ISL078
MIFTS: 51

Isolated Ectopia Lentis (IEL)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Isolated Ectopia Lentis

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MalaCards integrated aliases for Isolated Ectopia Lentis:

Name: Isolated Ectopia Lentis 12 53 25 59 15
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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Rare systemic and rhumatological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111148
ICD10 33 Q12.1
ICD9CM 35 743.37
SNOMED-CT 68 74969002
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
Sources

Summaries for Isolated Ectopia Lentis

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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 weill-marchesani syndrome. An important gene associated with Isolated Ectopia Lentis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are O-linked glycosylation and Diseases of glycosylation. Affiliated tissues include eye, bone and skin, and related phenotypes are malar flattening and nystagmus

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.

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

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Related Diseases for Isolated Ectopia Lentis

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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 95)
# Related Disease Score Top Affiliating Genes
1 lens subluxation 34.4 CBS FBN1
2 weill-marchesani syndrome 31.5 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 FBN1 FBN3
3 marfan syndrome 30.6 CBS FBN1
4 homocystinuria 30.1 CBS FBN1
5 myopia 29.9 ADAMTS10 ADAMTS17 FBN1
6 peters-plus syndrome 29.9 ADAMTS10 ADAMTSL2
7 ectopia lentis et pupillae 12.8
8 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 12.7
9 craniosynostosis with ectopia lentis 12.4
10 kniest-like dysplasia with pursed lips and ectopia lentis 12.4
11 ectopia lentis 2, isolated, autosomal recessive 12.3
12 megalocornea - spherophakia - secondary glaucoma 12.0
13 ectopia lentis 1, isolated, autosomal dominant 12.0
14 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 11.9
15 weill-marchesani syndrome 2 11.9
16 zazam sheriff phillips syndrome 11.6
17 noble bass sherman syndrome 11.4
18 anterior segment dysgenesis 1 11.4
19 anterior segment dysgenesis 4 11.4
20 homocystinuria due to cystathionine beta-synthase deficiency 11.4
21 anterior segment dysgenesis 7 11.4
22 anterior segment dysgenesis 3 11.4
23 anterior segment dysgenesis 5 11.4
24 anterior segment dysgenesis 2 11.4
25 anterior segment dysgenesis 6 11.4
26 anterior segment dysgenesis 8 11.4
27 schwartz-jampel syndrome, type 1 11.3
28 blepharoptosis, myopia, and ectopia lentis 11.3
29 sulfite oxidase deficiency, isolated 11.2
30 weill-marchesani syndrome 1 11.2
31 mass syndrome 11.2
32 weill-marchesani syndrome 4 11.2
33 weill-marchesani syndrome 3 11.2
34 marfan lipodystrophy syndrome 11.2
35 anterior segment dysgenesis 11.2
36 myopia, high, with cataract and vitreoretinal degeneration 11.2
37 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.2
38 craniosynostosis 10.4
39 arthrogryposis, distal, type 9 10.2
40 phacolytic glaucoma 10.2
41 neonatal marfan syndrome 10.2
42 cataract 10.2
43 postural orthostatic tachycardia syndrome 10.1 ADAMTSL4 FBN1
44 geleophysic dysplasia 10.1 ADAMTSL2 FBN1
45 lens disease 10.1 ADAMTSL4 FBN1
46 aniridia 1 10.1
47 coloboma of macula 10.1
48 retinoblastoma 10.1
49 sturge-weber syndrome 10.1
50 isolated growth hormone deficiency, type ia 10.1

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

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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 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
5 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
7 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
8 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001083
9 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
10 ectopia pupillae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009918
11 visual impairment 59 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 9.28 ADAMTS17
2 Decreased viability GR00381-A-1 9.28 ADAMTS17 FBN3
3 Decreased viability GR00381-A-2 9.28 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.28 ADAMTS17 FBN3
5 Decreased viability GR00402-S-2 9.28 ADAMTS17 FBN3
Sources

Drugs & Therapeutics for Isolated Ectopia Lentis

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Search Clinical Trials , NIH Clinical Center for Isolated Ectopia Lentis

Cochrane evidence based reviews: ectopia lentis

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Genetic Tests for Isolated Ectopia Lentis

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Genetic tests related to Isolated Ectopia Lentis:

# Genetic test Affiliating Genes
1 Ectopia Lentis 29
Sources

Anatomical Context for Isolated Ectopia Lentis

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MalaCards organs/tissues related to Isolated Ectopia Lentis:

41
Eye, Bone, Skin, Heart, Testes, Pituitary
Sources

Publications for Isolated Ectopia Lentis

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Articles related to Isolated Ectopia Lentis:

(show top 50) (show all 227)
# Title Authors Year
1
Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis. ( 29854424 )
2018
2
Analysis of Corneal Astigmatism before Surgery in Chinese Congenital Ectopia Lentis Patients. ( 29698085 )
2018
3
Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome. ( 30447425 )
2018
4
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis. ( 29305299 )
2018
5
Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. ( 29283142 )
2018
6
Comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. ( 29582838 )
2018
7
Response to comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. ( 29582840 )
2018
8
Long-term outcomes for pediatric patients having transscleral fixation of the capsular bag with intraocular lens for ectopia lentis. ( 29752046 )
2018
9
Trends and characteristics of congenital ectopia lentis in China. ( 30225232 )
2018
10
Evaluation of Sutureless, Glueless, Flapless, Intrascleral Fixated Posterior Chamber Intraocular Lens in Children with Ectopia Lentis. ( 30228913 )
2018
11
Are patients with ectopia lentis known to cardiology services? ( 30397254 )
2018
12
Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS. ( 30552983 )
2018
13
PARS PLANA VITRECTOMY AND LENSECTOMY FOR ECTOPIA LENTIS WITH AND WITHOUT THE INDUCTION OF A POSTERIOR VITREOUS DETACHMENT. ( 28207607 )
2017
14
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. ( 28394649 )
2017
15
Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis. ( 28823347 )
2017
16
Anterior iris-claw intraocular lens implantation for the management of nontraumatic ectopia lentis: long-term outcomes in a paediatric cohort. ( 27535343 )
2017
17
Intermittent pupillary capture of intraocular lens after transscleral fixation in congenital ectopia lentis patient triggered by dark environment: A case report. ( 28296765 )
2017
18
Iris-claw intraocular lens implantation in children with ectopia lentis. ( 28591285 )
2017
19
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. ( 28642162 )
2017
20
Distribution of axial length in Chinese congenital ectopia lentis patients: a retrospective study. ( 28673264 )
2017
21
Marfan's Syndrome with Ectopia Lentis. ( 28902582 )
2017
22
Management of cataracts and ectopia lentis in children: Practice patterns of pediatric ophthalmologists in India. ( 28905824 )
2017
23
Ectopia lentis and blue sclera in hyperhomocysteinaemia. ( 28937010 )
2017
24
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. ( 28941062 )
2017
25
Outcomes of Scleral-fixated Intraocular-lens in Children with Idiopathic Ectopia Lentis. ( 29422749 )
2017
26
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
27
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome. ( 28028488 )
2016
28
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
29
Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome. ( 27382335 )
2016
30
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. ( 26653794 )
2016
31
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. ( 25982157 )
2015
32
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. ( 25975359 )
2015
33
Atypical presentation of ectopia lentis in homocystinuria. ( 25662830 )
2015
34
Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. ( 25900864 )
2015
35
Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis. ( 25646068 )
2015
36
Images in clin medicine: Ectopia lentis. ( 25714185 )
2015
37
Trauma-Induced Bilateral Ectopia Lentis Diagnosed with Point-of-Care Ultrasound. ( 25797933 )
2015
38
Scheimpflug Imaging of Bilateral Ectopia Lentis and the Wrinkled Anterior Lens Capsule in Marfan's Syndrome. ( 26053213 )
2015
39
New Management Strategies for Ectopia Lentis. ( 26181899 )
2015
40
Ectopia lentis in Marfan's syndrome causing positional visual symptoms. ( 26286336 )
2015
41
How far is observation allowed in patients with ectopia lentis? ( 26339562 )
2015
42
Options in the Management of Reduced Vision in a Case of Ectopia Lentis. ( 26431554 )
2015
43
A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. ( 26558191 )
2015
44
Prevalence of ectopia lentis and retinal detachment in Marfan syndrome. ( 23786577 )
2014
45
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family. ( 24940037 )
2014
46
Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. ( 24802351 )
2014
47
Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. ( 25498110 )
2014
48
The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. ( 24635535 )
2014
49
Risk factors for postoperative complications in lensectomy-vitrectomy with or without intraocular lens placement in ectopia lentis associated with Marfan syndrome. ( 24831716 )
2014
50
Atypical presentation of ectopia lentis in Marfan's syndrome. ( 23479050 )
2014
Sources

Variations for Isolated Ectopia Lentis

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ClinVar genetic disease variations for Isolated Ectopia Lentis:

6 (show top 50) (show all 476)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
2 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
3 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
4 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
5 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
6 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
7 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
8 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
9 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
10 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
11 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
12 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
13 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
14 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605
15 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh37 Chromosome 15, 48888508: 48888508
16 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh38 Chromosome 15, 48596311: 48596311
17 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
18 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
19 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh37 Chromosome 15, 48725102: 48725102
20 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh38 Chromosome 15, 48432905: 48432905
21 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
22 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
23 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh37 Chromosome 15, 48703520: 48703520
24 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh38 Chromosome 15, 48411323: 48411323
25 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh37 Chromosome 15, 48703301: 48703301
26 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh38 Chromosome 15, 48411104: 48411104
27 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh37 Chromosome 15, 48818329: 48818329
28 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh38 Chromosome 15, 48526132: 48526132
29 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh37 Chromosome 15, 48936811: 48936811
30 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh38 Chromosome 15, 48644614: 48644614
31 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh37 Chromosome 15, 48797307: 48797307
32 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh38 Chromosome 15, 48505110: 48505110
33 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
34 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh38 Chromosome 15, 48497384: 48497384
35 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh37 Chromosome 15, 48782284: 48782284
36 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh38 Chromosome 15, 48490087: 48490087
37 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh37 Chromosome 15, 48782235: 48782235
38 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh38 Chromosome 15, 48490038: 48490038
39 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh37 Chromosome 15, 48779550: 48779550
40 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh38 Chromosome 15, 48487353: 48487353
41 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh37 Chromosome 15, 48779549: 48779549
42 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh38 Chromosome 15, 48487352: 48487352
43 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh37 Chromosome 15, 48779506: 48779506
44 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh38 Chromosome 15, 48487309: 48487309
45 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh37 Chromosome 15, 48760242: 48760242
46 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh38 Chromosome 15, 48468045: 48468045
47 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh37 Chromosome 15, 48744862: 48744862
48 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh38 Chromosome 15, 48452665: 48452665
49 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh37 Chromosome 15, 48738893: 48738893
50 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh38 Chromosome 15, 48446696: 48446696

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
Sources

Expression for Isolated Ectopia Lentis

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

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

# Super pathways Score Top Affiliating Genes
1
O-linked glycosylation 66
Show member pathways
 11.72 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4
2
Diseases of glycosylation 66
Show member pathways
 11.42 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4
3
Elastic fibre formation 66
Show member pathways
 11.23 FBN1 FBN3
4
O-glycosylation of TSR domain-containing proteins 66
Show member pathways
 10.81 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4
5
superpathway of methionine degradation 1
Show member pathways
 10.8 CBS SUOX
6
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.65 FBN1 FBN3
Sources

GO Terms for Isolated Ectopia Lentis

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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 9.5 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 FBN1 FBN3
2 microfibril GO:0001527 9.16 ADAMTS10 FBN1
3 extracellular matrix GO:0031012 9.02 ADAMTS10 ADAMTSL2 ADAMTSL4 FBN1 FBN3

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.26 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4
2 extracellular matrix organization GO:0030198 8.8 ADAMTSL2 ADAMTSL4 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 8.92 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4
Sources

Sources for Isolated Ectopia Lentis

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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
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51 NDF-RT
54 NINDS
55 Novoseek
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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
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
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