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, retina and testes.

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:

40
Eye, Retina, Testes, 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. 24
29331589 2018
2
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. 24
28394649 2017
3
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 24
28642162 2017
4
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. 24
26653794 2016
5
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. 24
26405179 2015
6
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. 24
25975359 2015
7
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. 24
25053872 2014
8
Management of the subluxated crystalline lens. 24
24286841 2013
9
Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. 24
23846871 2013
10
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 24
22871183 2013
11
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 24
22539340 2012
12
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 24
22736615 2012
13
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 24
21989719 2012
14
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 24
21051722 2011
15
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 24
20702823 2010
16
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 24
20564469 2010
17
A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. 24
19734141 2009
18
Functional and structural outcomes following lensectomy for ectopia lentis. 24
16102486 2005
19
Hereditary subluxated lenses: visual performances and long-term follow-up after surgery. 24
12867389 2003
20
TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. 24
12706885 2003
21
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 24
12525539 2003
22
Bilateral ametropic functional amblyopia in genetic ectopia lentis: its relation to the amount of subluxation, an indicator for early surgical management. 24
12171598 2002
23
Improvement in visual acuity in children with ectopia lentis. 24
7629677 1995
24
ADAMTSL4-Related Eye Disorders 61
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
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32 ICD10
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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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