MCID: ECT038
MIFTS: 17

Ectopia Lentis, Familial

Categories: Genetic diseases

Aliases & Classifications for Ectopia Lentis, Familial

MalaCards integrated aliases for Ectopia Lentis, Familial:

Name: Ectopia Lentis, Familial 54 13
Ectopia Lentis 1, Isolated, Autosomal Dominant 71 69
Ectopia Lentis 42
Ectol1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ectopia lentis, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 129600
MeSH 42 D004479
SNOMED-CT via HPO 65 263681008 74969002

Summaries for Ectopia Lentis, Familial

OMIM : 54
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). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). (129600)

MalaCards based summary : Ectopia Lentis, Familial, also known as ectopia lentis 1, isolated, autosomal dominant, is related to isolated ectopia lentis and ectopia lentis et pupillae, and has symptoms including ectopia lentis An important gene associated with Ectopia Lentis, Familial is FBN1 (Fibrillin 1).

UniProtKB/Swiss-Prot : 71 Ectopia lentis 1, isolated, autosomal dominant: 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, Familial

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

id Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 12.6
2 ectopia lentis et pupillae 12.5
3 ectopia lentis, isolated, autosomal recessive 10.9

Symptoms & Phenotypes for Ectopia Lentis, Familial

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
ectopia lentis, isolated (congenital lens dislocation)


Clinical features from OMIM:

129600

Human phenotypes related to Ectopia Lentis, Familial:

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

Drugs & Therapeutics for Ectopia Lentis, Familial

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis, Familial

Cochrane evidence based reviews: ectopia lentis

Genetic Tests for Ectopia Lentis, Familial

Anatomical Context for Ectopia Lentis, Familial

Publications for Ectopia Lentis, Familial

Articles related to Ectopia Lentis, Familial:

id Title Authors Year
1
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. ( 18079676 )
2007

Variations for Ectopia Lentis, Familial

UniProtKB/Swiss-Prot genetic disease variations for Ectopia Lentis, Familial:

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 FBN1 p.Arg545Cys VAR_002284
2 FBN1 p.Asp1155Asn VAR_002317
3 FBN1 p.Glu2447Lys VAR_002342 rs137854464
4 FBN1 p.Ser115Cys VAR_017970
5 FBN1 p.Arg240Cys VAR_017972 rs137854480
6 FBN1 p.Cys661Tyr VAR_017981
7 FBN1 p.Pro2154Arg VAR_018030
8 FBN1 p.Cys2339Tyr VAR_018035
9 FBN1 p.Tyr63Cys VAR_075987
10 FBN1 p.Cys68Ser VAR_075988
11 FBN1 p.Cys365Trp VAR_076004
12 FBN1 p.Cys596Arg VAR_076015
13 FBN1 p.Ser634Pro VAR_076017
14 FBN1 p.Ala882Val VAR_076029
15 FBN1 p.Glu2250Gly VAR_076130
16 FBN1 p.Tyr2272Cys VAR_076132
17 FBN1 p.Cys2448Arg VAR_076141

ClinVar genetic disease variations for Ectopia Lentis, Familial:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh37 Chromosome 15, 48717680: 48717680
2 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
3 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
4 FBN1 NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys) single nucleotide variant Pathogenic rs397514558 GRCh37 Chromosome 15, 48782210: 48782210
5 FBN1 NM_000138.4(FBN1): c.5788+5G> A single nucleotide variant Pathogenic rs193922219 GRCh37 Chromosome 15, 48738898: 48738898

Expression for Ectopia Lentis, Familial

Search GEO for disease gene expression data for Ectopia Lentis, Familial.

Pathways for Ectopia Lentis, Familial

GO Terms for Ectopia Lentis, Familial

Sources for Ectopia Lentis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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43 MESH via Orphanet
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52 Novoseek
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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