MCID: ADM003
MIFTS: 10

Adamtsl4-Related Eye Disorders

Aliases & Classifications for Adamtsl4-Related Eye Disorders

MalaCards integrated aliases for Adamtsl4-Related Eye Disorders:

Name: Adamtsl4-Related Eye Disorders 24

Summaries for Adamtsl4-Related Eye Disorders

MalaCards based summary : Adamtsl4-Related Eye Disorders is related to retinal detachment and ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Adamtsl4-Related Eye Disorders is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye, testes and retina.

GeneReviews: NBK84111

Related Diseases for Adamtsl4-Related Eye Disorders

Diseases related to Adamtsl4-Related Eye Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinal detachment 10.2
2 ectopia lentis 2, isolated, autosomal recessive 10.2
3 ectopia lentis et pupillae 10.2
4 arts syndrome 10.2
5 astigmatism 10.2
6 isolated ectopia lentis 10.2
7 suppression amblyopia 10.2
8 amblyopia 10.2
9 cataract 10.2
10 refractive error 10.2

Graphical network of the top 20 diseases related to Adamtsl4-Related Eye Disorders:



Diseases related to Adamtsl4-Related Eye Disorders

Symptoms & Phenotypes for Adamtsl4-Related Eye Disorders

Drugs & Therapeutics for Adamtsl4-Related Eye Disorders

Search Clinical Trials , NIH Clinical Center for Adamtsl4-Related Eye Disorders

Genetic Tests for Adamtsl4-Related Eye Disorders

Anatomical Context for Adamtsl4-Related Eye Disorders

MalaCards organs/tissues related to Adamtsl4-Related Eye Disorders:

41
Eye, Testes, Retina, Endothelial

Publications for Adamtsl4-Related Eye Disorders

Articles related to Adamtsl4-Related Eye Disorders:

(show all 24)
# Title Authors PMID Year
1
The iridocorneal endothelial syndrome. 4
29331589 2018
2
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. 4
28394649 2017
3
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 4
28642162 2017
4
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. 4
26653794 2016
5
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. 4
26405179 2015
6
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. 4
25975359 2015
7
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. 4
25053872 2014
8
Management of the subluxated crystalline lens. 4
24286841 2013
9
Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. 4
23846871 2013
10
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 4
22871183 2013
11
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 4
22539340 2012
12
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 4
22736615 2012
13
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 4
21989719 2012
14
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 4
21051722 2011
15
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 4
20702823 2010
16
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 4
20564469 2010
17
A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. 4
19734141 2009
18
Functional and structural outcomes following lensectomy for ectopia lentis. 4
16102486 2005
19
Hereditary subluxated lenses: visual performances and long-term follow-up after surgery. 4
12867389 2003
20
TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. 4
12706885 2003
21
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 4
12525539 2003
22
Bilateral ametropic functional amblyopia in genetic ectopia lentis: its relation to the amount of subluxation, an indicator for early surgical management. 4
12171598 2002
23
Improvement in visual acuity in children with ectopia lentis. 4
7629677 1995
24
ADAMTSL4-Related Eye Disorders 38
22338190 2012

Variations for Adamtsl4-Related Eye Disorders

Expression for Adamtsl4-Related Eye Disorders

Search GEO for disease gene expression data for Adamtsl4-Related Eye Disorders.

Pathways for Adamtsl4-Related Eye Disorders

GO Terms for Adamtsl4-Related Eye Disorders

Sources for Adamtsl4-Related Eye Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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