ECTOL2
MCID: ECT101
MIFTS: 20

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 57 75 73
Ectopia Lentis, Isolated Autosomal Recessive 53 29 6 40
Ectol2 57 12 75
Ectopia Lentis, Isolated, Autosomal Recessive 57 13
Autosomal Recessive Isolated Ectopia Lentis 2 12
Autosomal Recessive Isolated Ectopia Lentis 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ectopia lentis 2, isolated, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 225100
Disease Ontology 12 DOID:0111149
MeSH 44 D004479
SNOMED-CT via HPO 69 258211005 74969002
UMLS 73 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)

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 bone and eye, 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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 10.2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ectopia lentis, uncomplicated


Clinical features from OMIM:

225100

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

32
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 32 HP:0001083

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:

41
Bone, Eye

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

# Title Authors Year
1
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ( 19200529 )
2009

Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

6 (show all 12)
# 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_836delCGTGCATCCCC (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh37 Chromosome 1, 150526293: 150526303
8 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836delCGTGCATCCCC (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

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 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
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....