ECTOL2
MCID: ECT101
MIFTS: 36

Ectopia Lentis 2, Isolated, Autosomal Recessive (ECTOL2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic 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 71
Ectopia Lentis, Isolated Autosomal Recessive 52 29 6 39
Ectol2 56 12 73
Ectopia Lentis, Isolated, Autosomal Recessive 56 13
Autosomal Recessive Isolated Ectopia Lentis 2 12 15
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 ectopia lentis, isolated autosomal recessive, 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 HIV Life Cycle and O-linked glycosylation. Affiliated tissues include eye, retina and bone, 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:

(showing 37, show less)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 29.2 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2 retinal detachment 10.3
3 myopia 10.3
4 hyperlysinemia, type i 10.2 SUOX ADAMTSL4
5 tracheal disease 10.0 FBN1 ADAMTS10
6 megalocornea 10.0 FBN1 ADAMTS10
7 primary congenital glaucoma 9.9 FBN1 ADAMTS10
8 subclavian artery aneurysm 9.9 TGFBR2 FBN1
9 aneurysm 9.9 TGFBR2 FBN1
10 tricuspid valve prolapse 9.9 TGFBR2 FBN1
11 loeys-dietz syndrome 5 9.9 TGFBR2 FBN1
12 heritable thoracic aortic disease 9.9 TGFBR2 FBN1
13 loeys-dietz syndrome 3 9.9 TGFBR2 FBN1
14 loeys-dietz syndrome 4 9.9 TGFBR2 FBN1
15 arterial tortuosity syndrome 9.9 TGFBR2 FBN1
16 peters-plus syndrome 9.8 THSD4 ADAMTSL4 ADAMTS10
17 aortic valve insufficiency 9.8 TGFBR2 FBN1
18 lens disease 9.8 FBN1 ADAMTSL4
19 costello syndrome 9.8 FBN1 EGF
20 loeys-dietz syndrome 1 9.8 TGFBR2 FBN1
21 encephalopathy, ethylmalonic 9.8 SUOX CBSL
22 familial thoracic aortic aneurysm and dissection 9.8 TGFBR2 FBN1
23 tracheal stenosis 9.8 FBN1 ADAMTSL4 ADAMTS10
24 glaucoma 3, primary congenital, a 9.8 FBN1 ADAMTSL4 ADAMTS10
25 estrogen-receptor negative breast cancer 9.8 TGFBR2 EGF
26 aortic aneurysm, familial thoracic 1 9.7 TGFBR2 FBN1
27 cutis laxa, autosomal dominant 1 9.7 TGFBR2 FBN1
28 brachydactyly 9.7 FBN1 ADAMTSL4 ADAMTS10
29 glaucoma, primary open angle 9.7 FBN1 ADAMTS10
30 patent ductus arteriosus 1 9.7 TGFBR2 FBN1
31 craniosynostosis 9.6 TGFBR2 FBN1 ADAMTSL4
32 homocystinuria 9.6 SUOX FBN1
33 lens subluxation 9.5 SUOX FBN1 ADAMTSL4 ADAMTS10
34 aortic valve disease 1 9.4 TGFBR2 FBN1 EGF
35 marfan syndrome 9.2 THSD4 TGFBR2 FBN1 EGF
36 weill-marchesani syndrome 9.2 THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
37 ectopia lentis 1, isolated, autosomal dominant 7.7 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 (showing 1, show less)
# 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 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2
2 vision/eye MP:0005391 9.02 ADAMTS10 ADAMTSL4 CBSL EGF 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, 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, Bone, Breast

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

(showing 12, show less)
# Title Authors PMID Year
1
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. 61 56 6
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. 56 6
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. 56 6
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 61 6
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 (showing 14, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_019032.5(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.1659del (p.Val554fs)deletion Uncertain significance 632082 rs1560296572 1:150529178-150529178 1:150556702-150556702
10 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1372-5_1372-2deldeletion Uncertain significance 632081 rs1560294823 1:150528633-150528636 1:150556157-150556160
11 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1936G>A (p.Val646Met)SNV Uncertain significance 634507 rs765795619 1:150529700-150529700 1:150557224-150557224
12 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1234+90G>ASNV Uncertain significance 626056 rs762772611 1:150527033-150527033 1:150554557-150554557
13 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1378G>A (p.Gly460Ser)SNV Uncertain significance 626057 rs587749107 1:150528644-150528644 1:150556168-150556168
14 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2178-10G>TSNV Uncertain significance 626058 rs766540875 1:150530411-150530411 1:150557935-150557935

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:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.33 THSD4 FBN1 ADAMTSL4
2 collagen-containing extracellular matrix GO:0062023 9.26 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 microfibril GO:0001527 8.8 THSD4 FBN1 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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
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