ECTOL2
MCID: ECT101
MIFTS: 38

Ectopia Lentis 2, Isolated, Autosomal Recessive (ECTOL2)

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

Aliases & Classifications for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards integrated aliases for Ectopia Lentis 2, Isolated, Autosomal Recessive:

Name: Ectopia Lentis 2, Isolated, Autosomal Recessive 56 73 29 6 71
Ectol2 56 12 73
Ectopia Lentis, Isolated, Autosomal Recessive 56 13
Autosomal Recessive Isolated Ectopia Lentis 2 12 15
Ectopia Lentis, Isolated Autosomal Recessive 52 39
Autosomal Recessive Isolated Ectopia Lentis 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ectopia lentis 2, isolated, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111149
OMIM 56 225100
MeSH 43 D004479
SNOMED-CT via HPO 68 258211005 74969002
UMLS 71 C3541474

Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

OMIM : 56 Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). An autosomal dominant form of isolated ectopia lentis (ECTOL1; 129600) is caused by mutation in the FBN1 gene (134797). Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (154700), Weill-Marchesani syndrome (see 277600), and homocystinuria (236200). (225100)

MalaCards based summary : Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectol2, is related to isolated ectopia lentis and ectopia lentis et pupillae. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4), and among its related pathways/superpathways are O-linked glycosylation and Diseases of glycosylation. Affiliated tissues include eye and retina, and related phenotypes are ectopia lentis and integument

Disease Ontology : 12 An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

UniProtKB/Swiss-Prot : 73 Ectopia lentis 2, isolated, autosomal recessive: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

Related Diseases for Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases in the Isolated Ectopia Lentis family:

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

Diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 29.2 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2 ectopia lentis et pupillae 10.3 ADAMTSL4-AS2 ADAMTSL4
3 retinal detachment 10.3
4 joint laxity, short stature, and myopia 10.3
5 myopia 10.3
6 glaucoma 3, primary congenital, a 10.1 ADAMTSL4 ADAMTS10
7 tracheal disease 10.0 FBN1 ADAMTS10
8 megalocornea 10.0 FBN1 ADAMTS10
9 primary congenital glaucoma 9.9 FBN1 ADAMTS10
10 sulfite oxidase deficiency, isolated 9.9 SUOX ADAMTSL4 ADAMTS10
11 tricuspid valve prolapse 9.9 TGFBR2 FBN1
12 loeys-dietz syndrome 5 9.9 TGFBR2 FBN1
13 heritable thoracic aortic disease 9.9 TGFBR2 FBN1
14 loeys-dietz syndrome 3 9.9 TGFBR2 FBN1
15 loeys-dietz syndrome 4 9.9 TGFBR2 FBN1
16 arterial tortuosity syndrome 9.9 TGFBR2 FBN1
17 costello syndrome 9.9 FBN1 EGF
18 peters-plus syndrome 9.9 THSD4 ADAMTSL4 ADAMTS10
19 aortic valve insufficiency 9.9 TGFBR2 FBN1
20 aortic dissection 9.8 TGFBR2 FBN1
21 loeys-dietz syndrome 1 9.8 TGFBR2 FBN1
22 encephalopathy, ethylmalonic 9.8 SUOX CBSL
23 collagen disease 9.8 TGFBR2 FBN1
24 tracheal stenosis 9.8 FBN1 ADAMTSL4 ADAMTS10
25 stiff skin syndrome 9.8 FBN1 ADAMTSL4 ADAMTS10
26 estrogen-receptor negative breast cancer 9.8 TGFBR2 EGF
27 cutis laxa, autosomal dominant 1 9.7 TGFBR2 FBN1
28 familial thoracic aortic aneurysm and aortic dissection 9.7 TGFBR2 FBN1
29 brachydactyly 9.7 FBN1 ADAMTSL4 ADAMTS10
30 aneurysm 9.7 TGFBR2 FBN1
31 aortic aneurysm, familial thoracic 1 9.7 TGFBR2 FBN1
32 craniosynostosis 9.6 TGFBR2 FBN1 ADAMTSL4
33 patent ductus arteriosus 1 9.6 TGFBR2 FBN1
34 lens disease 9.6 FBN1 ADAMTSL4
35 hemophilia b 9.6 FBN1 EGF
36 lens subluxation 9.5 SUOX FBN1 ADAMTSL4 ADAMTS10
37 acromicric dysplasia 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
38 geleophysic dysplasia 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
39 weill-marchesani syndrome 9.2 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
40 cataract 9.2 TGFBR2 FBN1 EGF ADAMTSL4
41 marfan syndrome 9.2 THSD4 TGFBR2 FBN1 EGF
42 homocystinuria 9.1 SUOX FBN1 EGF CBSL
43 ectopia lentis 1, isolated, autosomal dominant 7.8 THSD4 TGFBR2 SUOX FBN1 EGF CBSL

Graphical network of the top 20 diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive:



Diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive

Symptoms & Phenotypes for Ectopia Lentis 2, Isolated, Autosomal Recessive

Human phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 31 HP:0001083

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM:

225100

MGI Mouse Phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2

Drugs & Therapeutics for Ectopia Lentis 2, Isolated, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genetic Tests for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genetic tests related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ectopia Lentis 2, Isolated, Autosomal Recessive 29 ADAMTSL4

Anatomical Context for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards organs/tissues related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

40
Eye, Retina

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

Articles related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. 61 6 56
19200529 2009
2
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 56 6
22736615 2012
3
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 6 56
21051722 2011
4
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 56 6
20702823 2010
5
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 6 56
20564469 2010
6
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 56 6
20141359 2010
7
Autosomal recessive ectopia lentis in two Arab family pedigrees. 56 6
2377351 1990
8
ADAMTSL4-Related Eye Disorders 6 61
22338190 2012
9
Familial simple ectopia lentis. A probable autosomal recessive form. 56
3491351 1986
10
Primordial dwarfism and ectopia lentis. 56
14388006 1955
11
Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. 61
23846871 2013
12
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 61
21989719 2012

Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

ClinVar genetic disease variations for Ectopia Lentis 2, Isolated, Autosomal Recessive:

6 (show top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter)SNV Pathogenic 1349 rs118203985 1:150529450-150529450 1:150556974-150556974
2 ADAMTSL4 NM_019032.5(ADAMTSL4):c.79-1G>ASNV Pathogenic 39554 rs587776927 1:150525373-150525373 1:150552897-150552897
3 ADAMTSL4 NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)deletion Pathogenic 39555 rs199473693 1:150526234-150526253 1:150553750-150553769
4 ADAMTSL4 NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs)deletion Pathogenic 39556 rs794726688 1:150526292-150526302 1:150553816-150553826
5 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter)SNV Pathogenic 39557 rs368482584 1:150529772-150529772 1:150557296-150557296
6 ADAMTSL4 NM_019032.5(ADAMTSL4):c.239del (p.Pro80fs)deletion Pathogenic 39558 rs794726689 1:150525532-150525532 1:150553056-150553056
7 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2560-4G>ASNV Conflicting interpretations of pathogenicity 626059 rs374389962 1:150531434-150531434 1:150558958-150558958
8 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2944-7G>ASNV Conflicting interpretations of pathogenicity 626060 rs193025475 1:150532230-150532230 1:150559754-150559754
9 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2040C>T (p.Cys680=)SNV Conflicting interpretations of pathogenicity 724482 1:150529804-150529804 1:150557328-150557328
10 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=)SNV Conflicting interpretations of pathogenicity 746274 1:150530433-150530433 1:150557957-150557957
11 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 292527 rs370107497 1:150526499-150526499 1:150554023-150554023
12 ADAMTSL4 NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln)SNV Conflicting interpretations of pathogenicity 292522 rs145673891 1:150526216-150526216 1:150553740-150553740
13 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=)SNV Conflicting interpretations of pathogenicity 292562 rs148110558 1:150531882-150531882 1:150559406-150559406
14 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*333G>ASNV Uncertain significance 292573 rs587633776 1:150533005-150533005 1:150560529-150560529
15 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*640C>ASNV Uncertain significance 292577 rs776897541 1:150533312-150533312 1:150560836-150560836
16 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*670C>GSNV Uncertain significance 292578 rs774586242 1:150533342-150533342 1:150560866-150560866
17 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr)SNV Uncertain significance 292526 rs374008923 1:150526476-150526476 1:150554000-150554000
18 ADAMTSL4 NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=)SNV Uncertain significance 292520 rs199802790 1:150525998-150525998 1:150553522-150553522
19 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His)SNV Uncertain significance 292559 rs202037366 1:150531794-150531794 1:150559318-150559318
20 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp)SNV Uncertain significance 292528 rs749157895 1:150526585-150526585 1:150554109-150554109
21 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1131+15G>ASNV Uncertain significance 292530 rs772312644 1:150526613-150526613 1:150554137-150554137
22 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=)SNV Uncertain significance 292533 rs587675749 1:150528730-150528730 1:150556254-150556254
23 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp)SNV Uncertain significance 292534 rs773512669 1:150528800-150528800 1:150556324-150556324
24 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=)SNV Uncertain significance 292537 rs749692173 1:150529441-150529441 1:150556965-150556965
25 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile)SNV Uncertain significance 292538 rs757656099 1:150529442-150529442 1:150556966-150556966
26 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1862-11C>TSNV Uncertain significance 292541 rs201593004 1:150529615-150529615 1:150557139-150557139
27 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp)SNV Uncertain significance 292535 rs369892162 1:150528821-150528821 1:150556345-150556345
28 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu)SNV Uncertain significance 292543 rs886045268 1:150529749-150529749 1:150557273-150557273
29 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala)SNV Uncertain significance 292564 rs200172019 1:150532256-150532256 1:150559780-150559780
30 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*276G>ASNV Uncertain significance 292570 rs181259344 1:150532948-150532948 1:150560472-150560472
31 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*332A>GSNV Uncertain significance 292572 rs886045270 1:150533004-150533004 1:150560528-150560528
32 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*674C>TSNV Uncertain significance 292579 rs886045272 1:150533346-150533346 1:150560870-150560870
33 ADAMTSL4 NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg)SNV Uncertain significance 292516 rs755040821 1:150525383-150525383 1:150552907-150552907
34 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val)SNV Uncertain significance 292561 rs587695953 1:150531881-150531881 1:150559405-150559405
35 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2559+9G>ASNV Uncertain significance 292555 rs12049100 1:150531134-150531134 1:150558658-150558658
36 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=)SNV Uncertain significance 292558 rs139006349 1:150531581-150531581 1:150559105-150559105
37 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2944-8C>TSNV Uncertain significance 292563 rs372461420 1:150532229-150532229 1:150559753-150559753
38 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*407C>TSNV Uncertain significance 292574 rs745843292 1:150533079-150533079 1:150560603-150560603
39 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly)SNV Uncertain significance 292531 rs763308439 1:150526868-150526868 1:150554392-150554392
40 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=)SNV Uncertain significance 292547 rs587696191 1:150530466-150530466 1:150557990-150557990
41 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=)SNV Uncertain significance 292548 rs780658812 1:150530508-150530508 1:150558032-150558032
42 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp)SNV Uncertain significance 292552 rs763279620 1:150530958-150530958 1:150558482-150558482
43 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys)SNV Uncertain significance 827969 1:150531008-150531008 1:150558532-150558532
44 ADAMTSL4 NM_019032.6(ADAMTSL4):c.-236C>TSNV Uncertain significance 875231 1:150521898-150521898 1:150549422-150549422
45 ADAMTSL4 NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)SNV Uncertain significance 876192 1:150525457-150525457 1:150552981-150552981
46 ADAMTSL4 NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp)SNV Uncertain significance 876193 1:150525587-150525587 1:150553111-150553111
47 ADAMTSL4 NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=)SNV Uncertain significance 876194 1:150525715-150525715 1:150553239-150553239
48 ADAMTSL4 NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val)SNV Uncertain significance 876332 1:150526036-150526036 1:150553560-150553560
49 ADAMTSL4 NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp)SNV Uncertain significance 874362 1:150526467-150526467 1:150553991-150553991
50 ADAMTSL4 NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu)SNV Uncertain significance 874363 1:150526597-150526597 1:150554121-150554121

Expression for Ectopia Lentis 2, Isolated, Autosomal Recessive

Search GEO for disease gene expression data for Ectopia Lentis 2, Isolated, Autosomal Recessive.

Pathways for Ectopia Lentis 2, Isolated, Autosomal Recessive

GO Terms for Ectopia Lentis 2, Isolated, Autosomal Recessive

Cellular components related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 THSD4 FBN1 ADAMTSL4 ADAMTS10
2 extracellular matrix GO:0031012 9.26 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 microfibril GO:0001527 8.8 THSD4 FBN1 ADAMTS10

Biological processes related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 THSD4 FBN1 ADAMTSL4 ADAMTS10

Molecular functions related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 8.8 THSD4 ADAMTSL4 ADAMTS10

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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