ECTOL2
MCID: ECT101
MIFTS: 22

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 58 76 74
Ectopia Lentis, Isolated Autosomal Recessive 54 30 6 41
Ectol2 58 12 76
Ectopia Lentis, Isolated, Autosomal Recessive 58 13
Autosomal Recessive Isolated Ectopia Lentis 2 12
Autosomal Recessive Isolated Ectopia Lentis 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectopia lentis 2, isolated, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111149
OMIM 58 225100
MeSH 45 D004479
SNOMED-CT via HPO 70 258211005 74969002
UMLS 74 C3541474

Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

OMIM : 58 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. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye and bone, and related phenotype is ectopia lentis.

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 : 76 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 1, show less)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 10.2

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

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

33 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 33 HP:0001083

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM:

225100

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 30 ADAMTSL4

Anatomical Context for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

42
Eye, Bone

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

(showing 7, show less)
# Title Authors Year
1
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ( 22736615 )
2012
2
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )
2011
3
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ( 20702823 )
2010
4
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. ( 20141359 )
2010
5
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ( 20564469 )
2010
6
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ( 19200529 )
2009
7
Autosomal recessive ectopia lentis in two Arab family pedigrees. ( 2377351 )
1990

Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

6 (showing 22, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1785T> G (p.Tyr595Ter) single nucleotide variant Pathogenic rs118203985 GRCh37 Chromosome 1, 150529450: 150529450
2 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1785T> G (p.Tyr595Ter) single nucleotide variant Pathogenic rs118203985 GRCh38 Chromosome 1, 150556974: 150556974
3 ADAMTSL4 NM_019032.5(ADAMTSL4): c.79-1G> A single nucleotide variant Pathogenic rs587776927 GRCh37 Chromosome 1, 150525373: 150525373
4 ADAMTSL4 NM_019032.5(ADAMTSL4): c.79-1G> A single nucleotide variant Pathogenic rs587776927 GRCh38 Chromosome 1, 150552897: 150552897
5 ADAMTSL4 NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs) deletion Pathogenic rs199473693 GRCh37 Chromosome 1, 150526234: 150526253
6 ADAMTSL4 NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs) deletion Pathogenic rs199473693 GRCh38 Chromosome 1, 150553758: 150553777
7 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836del11 (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh37 Chromosome 1, 150526293: 150526303
8 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836del11 (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh38 Chromosome 1, 150553817: 150553827
9 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs368482584 GRCh37 Chromosome 1, 150529772: 150529772
10 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs368482584 GRCh38 Chromosome 1, 150557296: 150557296
11 ADAMTSL4 NM_019032.5(ADAMTSL4): c.239delC (p.Pro80Argfs) deletion Pathogenic rs794726689 GRCh37 Chromosome 1, 150525534: 150525534
12 ADAMTSL4 NM_019032.5(ADAMTSL4): c.239delC (p.Pro80Argfs) deletion Pathogenic rs794726689 GRCh38 Chromosome 1, 150553058: 150553058
13 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1234+90G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150527033: 150527033
14 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1234+90G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150554557: 150554557
15 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150528644: 150528644
16 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150556168: 150556168
17 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2178-10G> T single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150530411: 150530411
18 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2178-10G> T single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150557935: 150557935
19 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2560-4G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150531434: 150531434
20 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2560-4G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150558958: 150558958
21 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2944-7G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150532230: 150532230
22 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2944-7G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150559754: 150559754

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

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....