MCID: SYN127
MIFTS: 8

Syndromic Ectopia Lentis

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Ectopia Lentis

MalaCards integrated aliases for Syndromic Ectopia Lentis:

Name: Syndromic Ectopia Lentis 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA519292

Summaries for Syndromic Ectopia Lentis

Related Diseases for Syndromic Ectopia Lentis

Diseases related to Syndromic Ectopia Lentis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 11.8
2 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 11.4
3 noble bass sherman syndrome 11.4
4 marfan syndrome 10.5
5 contractural arachnodactyly, congenital 10.1
6 ectopia lentis 1, isolated, autosomal dominant 10.1
7 retinal detachment 10.1
8 orthostatic intolerance 10.1
9 retinal degeneration 10.1
10 vitreoretinopathy 10.1

Graphical network of the top 20 diseases related to Syndromic Ectopia Lentis:



Diseases related to Syndromic Ectopia Lentis

Symptoms & Phenotypes for Syndromic Ectopia Lentis

Drugs & Therapeutics for Syndromic Ectopia Lentis

Search Clinical Trials , NIH Clinical Center for Syndromic Ectopia Lentis

Genetic Tests for Syndromic Ectopia Lentis

Anatomical Context for Syndromic Ectopia Lentis

MalaCards organs/tissues related to Syndromic Ectopia Lentis:

40
Eye

Publications for Syndromic Ectopia Lentis

Articles related to Syndromic Ectopia Lentis:

# Title Authors PMID Year
1
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics. 61
31527767 2019
2
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 61
21989719 2012
3
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. 61
20141359 2010

Variations for Syndromic Ectopia Lentis

Expression for Syndromic Ectopia Lentis

Search GEO for disease gene expression data for Syndromic Ectopia Lentis.

Pathways for Syndromic Ectopia Lentis

GO Terms for Syndromic Ectopia Lentis

Sources for Syndromic Ectopia Lentis

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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