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 57 72 29 6 70
Ectol2 57 12 72
Ectopia Lentis, Isolated, Autosomal Recessive 57 13
Autosomal Recessive Isolated Ectopia Lentis 2 12 15
Ectopia Lentis, Isolated Autosomal Recessive, Type 2 39
Ectopia Lentis, Isolated Autosomal Recessive 20
Autosomal Recessive Isolated Ectopia Lentis 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111149
OMIM® 57 225100
MeSH 44 D004479
SNOMED-CT via HPO 68 258211005 74969002
UMLS 70 C3541474

Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectol2, is related to isolated ectopia lentis and retinal detachment. 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, retina and breast, 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 : 72 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 42)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 29.3 THSD4 SUOX FBN1 ADAMTSL4-AS2 ADAMTSL4 ADAMTS10
2 retinal detachment 10.2
3 myopia 10.2
4 craniosynostosis with ectopia lentis 10.2 ADAMTSL4-AS2 ADAMTSL4
5 ectopia lentis et pupillae 10.2 ADAMTSL4-AS2 ADAMTSL4
6 hyperlysinemia, type i 10.2 SUOX ADAMTSL4
7 encephalopathy, ethylmalonic 10.0 SUOX CBSL
8 megalocornea 10.0 FBN1 ADAMTS10
9 weill-marchesani syndrome 1 10.0 FBN1 ADAMTS10
10 sulfite oxidase deficiency, isolated 9.9 SUOX ADAMTSL4 ADAMTS10
11 lens position anomaly 9.9 FBN1 ADAMTSL4-AS2 ADAMTSL4
12 primary congenital glaucoma 9.9 FBN1 ADAMTS10
13 tracheal stenosis 9.9 FBN1 ADAMTSL4 ADAMTS10
14 tracheal disease 9.9 FBN1 ADAMTSL4 ADAMTS10
15 stiff skin syndrome 9.9 FBN1 ADAMTSL4 ADAMTS10
16 subclavian artery aneurysm 9.8 TGFBR2 FBN1
17 tricuspid valve prolapse 9.8 TGFBR2 FBN1
18 loeys-dietz syndrome 5 9.8 TGFBR2 FBN1
19 heritable thoracic aortic disease 9.8 TGFBR2 FBN1
20 mitochondrial dna depletion syndrome 12b 9.8 TGFBR2 FBN1
21 loeys-dietz syndrome 3 9.8 TGFBR2 FBN1
22 loeys-dietz syndrome 4 9.8 TGFBR2 FBN1
23 arterial tortuosity syndrome 9.8 TGFBR2 FBN1
24 hemophilia b 9.8 FBN1 EGF
25 aortic valve insufficiency 9.8 TGFBR2 FBN1
26 loeys-dietz syndrome 2 9.8 TGFBR2 FBN1
27 loeys-dietz syndrome 1 9.8 TGFBR2 FBN1
28 lens disease 9.7 FBN1 ADAMTSL4
29 costello syndrome 9.7 FBN1 EGF
30 collagen disease 9.7 TGFBR2 FBN1
31 estrogen-receptor negative breast cancer 9.7 TGFBR2 EGF
32 cutis laxa, autosomal dominant 1 9.7 TGFBR2 FBN1
33 aortic aneurysm, familial thoracic 1 9.7 TGFBR2 FBN1
34 craniosynostosis 9.7 TGFBR2 FBN1 ADAMTSL4
35 acromicric dysplasia 9.7 THSD4 FBN1 ADAMTSL4 ADAMTS10
36 geleophysic dysplasia 9.7 THSD4 FBN1 ADAMTSL4 ADAMTS10
37 weill-marchesani syndrome 9.7 THSD4 FBN1 ADAMTSL4 ADAMTS10
38 homocystinuria 9.5 SUOX FBN1 EGF CBSL
39 lens subluxation 9.3 SUOX FBN1 CBSL ADAMTSL4 ADAMTS10
40 marfan syndrome 9.3 THSD4 TGFBR2 FBN1 EGF
41 cataract 9.3 TGFBR2 FBN1 EGF ADAMTSL4
42 ectopia lentis 1, isolated, autosomal dominant 8.4 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®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM®:

225100 (Updated 20-May-2021)

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

46
# 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, Breast, Skin

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

(show all 14)
# Title Authors PMID Year
1
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. 6 61 57
19200529 2009
2
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 57 6
22736615 2012
3
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 6 57
21051722 2011
4
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 6 57
20702823 2010
5
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 57 6
20564469 2010
6
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 57 6
20141359 2010
7
Autosomal recessive ectopia lentis in two Arab family pedigrees. 6 57
2377351 1990
8
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. 6
25975359 2015
9
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 6
22871183 2013
10
Familial simple ectopia lentis. A probable autosomal recessive form. 57
3491351 1986
11
Primordial dwarfism and ectopia lentis. 57
14388006 1955
12
Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. 61
23846871 2013
13
ADAMTSL4-Related Eye Disorders 61
22338190 2012
14
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 142)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter) SNV Pathogenic 1349 rs118203985 GRCh37: 1:150529450-150529450
GRCh38: 1:150556974-150556974
2 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.5(ADAMTSL4):c.239del (p.Pro80fs) Deletion Pathogenic 39558 rs794726689 GRCh37: 1:150525532-150525532
GRCh38: 1:150553056-150553056
3 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) SNV Pathogenic 39557 rs368482584 GRCh37: 1:150529772-150529772
GRCh38: 1:150557296-150557296
4 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs) Deletion Pathogenic 39556 rs794726688 GRCh37: 1:150526292-150526302
GRCh38: 1:150553816-150553826
5 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) Deletion Pathogenic 39555 rs199473693 GRCh37: 1:150526234-150526253
GRCh38: 1:150553750-150553769
6 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.5(ADAMTSL4):c.79-1G>A SNV Pathogenic 39554 rs587776927 GRCh37: 1:150525373-150525373
GRCh38: 1:150552897-150552897
7 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) SNV Likely pathogenic 39557 rs368482584 GRCh37: 1:150529772-150529772
GRCh38: 1:150557296-150557296
8 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys) SNV Uncertain significance 992534 GRCh37: 1:150530584-150530584
GRCh38: 1:150558108-150558108
9 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu) SNV Uncertain significance 292544 rs115937511 GRCh37: 1:150530009-150530009
GRCh38: 1:150557533-150557533
10 ADAMTSL4 NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His) SNV Uncertain significance 876367 GRCh37: 1:150529196-150529196
GRCh38: 1:150556720-150556720
11 ADAMTSL4 NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=) SNV Uncertain significance 876368 GRCh37: 1:150529203-150529203
GRCh38: 1:150556727-150556727
12 ADAMTSL4 NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu) SNV Uncertain significance 876369 GRCh37: 1:150529656-150529656
GRCh38: 1:150557180-150557180
13 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=) SNV Uncertain significance 876406 GRCh37: 1:150531023-150531023
GRCh38: 1:150558547-150558547
14 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu) SNV Uncertain significance 876407 GRCh37: 1:150531049-150531049
GRCh38: 1:150558573-150558573
15 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2559+8C>T SNV Uncertain significance 876408 GRCh37: 1:150531133-150531133
GRCh38: 1:150558657-150558657
16 ADAMTSL4 NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg) SNV Uncertain significance 876459 GRCh37: 1:150532371-150532371
GRCh38: 1:150559895-150559895
17 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) SNV Uncertain significance 292558 rs139006349 GRCh37: 1:150531581-150531581
GRCh38: 1:150559105-150559105
18 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) SNV Uncertain significance 292527 rs370107497 GRCh37: 1:150526499-150526499
GRCh38: 1:150554023-150554023
19 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) SNV Uncertain significance 292561 rs587695953 GRCh37: 1:150531881-150531881
GRCh38: 1:150559405-150559405
20 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) SNV Uncertain significance 292564 rs200172019 GRCh37: 1:150532256-150532256
GRCh38: 1:150559780-150559780
21 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) SNV Uncertain significance 292543 rs886045268 GRCh37: 1:150529749-150529749
GRCh38: 1:150557273-150557273
22 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2944-8C>T SNV Uncertain significance 292563 rs372461420 GRCh37: 1:150532229-150532229
GRCh38: 1:150559753-150559753
23 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) SNV Uncertain significance 292522 rs145673891 GRCh37: 1:150526216-150526216
GRCh38: 1:150553740-150553740
24 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro) SNV Uncertain significance 875285 GRCh37: 1:150526895-150526895
GRCh38: 1:150554419-150554419
25 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=) SNV Uncertain significance 875325 GRCh37: 1:150530079-150530079
GRCh38: 1:150557603-150557603
26 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=) SNV Uncertain significance 746274 rs373005024 GRCh37: 1:150530433-150530433
GRCh38: 1:150557957-150557957
27 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys) SNV Uncertain significance 875326 GRCh37: 1:150530479-150530479
GRCh38: 1:150558003-150558003
28 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp) SNV Uncertain significance 875327 GRCh37: 1:150530494-150530494
GRCh38: 1:150558018-150558018
29 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu) SNV Uncertain significance 875328 GRCh37: 1:150530522-150530522
GRCh38: 1:150558046-150558046
30 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys) SNV Uncertain significance 875375 GRCh37: 1:150530536-150530536
GRCh38: 1:150558060-150558060
31 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp) SNV Uncertain significance 875376 GRCh37: 1:150530554-150530554
GRCh38: 1:150558078-150558078
32 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln) SNV Uncertain significance 875377 GRCh37: 1:150530555-150530555
GRCh38: 1:150558079-150558079
33 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met) SNV Uncertain significance 874507 GRCh37: 1:150531838-150531838
GRCh38: 1:150559362-150559362
34 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser) SNV Uncertain significance 874508 GRCh37: 1:150531847-150531847
GRCh38: 1:150559371-150559371
35 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu) SNV Uncertain significance 874509 GRCh37: 1:150531848-150531848
GRCh38: 1:150559372-150559372
36 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.-236C>T SNV Uncertain significance 875231 GRCh37: 1:150521898-150521898
GRCh38: 1:150549422-150549422
37 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg) SNV Uncertain significance 875282 GRCh37: 1:150526851-150526851
GRCh38: 1:150554375-150554375
38 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln) SNV Uncertain significance 875283 GRCh37: 1:150526869-150526869
GRCh38: 1:150554393-150554393
39 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys) SNV Uncertain significance 874505 GRCh37: 1:150531615-150531615
GRCh38: 1:150559139-150559139
40 ADAMTSL4 NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln) SNV Uncertain significance 875435 GRCh37: 1:150531917-150531917
GRCh38: 1:150559441-150559441
41 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2944-7G>A SNV Uncertain significance 626060 rs193025475 GRCh37: 1:150532230-150532230
GRCh38: 1:150559754-150559754
42 ADAMTSL4 NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln) SNV Uncertain significance 875436 GRCh37: 1:150532313-150532313
GRCh38: 1:150559837-150559837
43 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=) SNV Uncertain significance 876192 GRCh37: 1:150525457-150525457
GRCh38: 1:150552981-150552981
44 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp) SNV Uncertain significance 876193 GRCh37: 1:150525587-150525587
GRCh38: 1:150553111-150553111
45 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=) SNV Uncertain significance 876194 GRCh37: 1:150525715-150525715
GRCh38: 1:150553239-150553239
46 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile) SNV Uncertain significance 876243 GRCh37: 1:150527971-150527971
GRCh38: 1:150555495-150555495
47 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala) SNV Uncertain significance 876244 GRCh37: 1:150528654-150528654
GRCh38: 1:150556178-150556178
48 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1419C>T (p.Gly473=) SNV Uncertain significance 876245 GRCh37: 1:150528685-150528685
GRCh38: 1:150556209-150556209
49 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1551G>C (p.Gln517His) SNV Uncertain significance 876246 GRCh37: 1:150528817-150528817
GRCh38: 1:150556341-150556341
50 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.1577-5C>T SNV Uncertain significance 876247 GRCh37: 1:150529092-150529092
GRCh38: 1:150556616-150556616

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
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....