ECTOL1
MCID: ECT098
MIFTS: 20

Ectopia Lentis 1, Isolated, Autosomal Dominant (ECTOL1)

Categories: Genetic diseases, Eye diseases, Rare diseases, Bone diseases

Aliases & Classifications for Ectopia Lentis 1, Isolated, Autosomal Dominant

MalaCards integrated aliases for Ectopia Lentis 1, Isolated, Autosomal Dominant:

Name: Ectopia Lentis 1, Isolated, Autosomal Dominant 57 75 73
Ectol1 57 12 75
Ectopia Lentis, Familial 57 13
Autosomal Dominant Isolated Ectopia Lentis 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ectopia lentis 1, isolated, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 129600
Disease Ontology 12 DOID:0111150
MeSH 44 D004479
SNOMED-CT via HPO 69 263681008 74969002

Summaries for Ectopia Lentis 1, Isolated, Autosomal Dominant

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). 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 1, Isolated, Autosomal Dominant, also known as ectol1, is related to isolated ectopia lentis and ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Ectopia Lentis 1, Isolated, Autosomal Dominant is FBN1 (Fibrillin 1). Affiliated tissues include eye, and related phenotype is ectopia lentis.

Disease Ontology : 12 An isolated ectopia lentis that has material basis in heterozygous mutation in the FBN1 gene on chromosome 15q21.

UniProtKB/Swiss-Prot : 75 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 1, Isolated, Autosomal Dominant

Diseases in the Isolated Ectopia Lentis family:

Ectopia Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases related to Ectopia Lentis 1, Isolated, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 11.7
2 ectopia lentis 2, isolated, autosomal recessive 11.0

Symptoms & Phenotypes for Ectopia Lentis 1, Isolated, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ectopia lentis, isolated (congenital lens dislocation)


Clinical features from OMIM:

129600

Human phenotypes related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

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

Drugs & Therapeutics for Ectopia Lentis 1, Isolated, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis 1, Isolated, Autosomal Dominant

Genetic Tests for Ectopia Lentis 1, Isolated, Autosomal Dominant

Anatomical Context for Ectopia Lentis 1, Isolated, Autosomal Dominant

MalaCards organs/tissues related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

41
Eye

Publications for Ectopia Lentis 1, Isolated, Autosomal Dominant

Articles related to Ectopia Lentis 1, Isolated, Autosomal Dominant:

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

Variations for Ectopia Lentis 1, Isolated, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Ectopia Lentis 1, Isolated, Autosomal Dominant:

75 (show all 18)
# 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.Arg1530Cys VAR_018012 rs111401431
8 FBN1 p.Pro2154Arg VAR_018030
9 FBN1 p.Cys2339Tyr VAR_018035
10 FBN1 p.Tyr63Cys VAR_075987
11 FBN1 p.Cys68Ser VAR_075988
12 FBN1 p.Cys365Trp VAR_076004
13 FBN1 p.Cys596Arg VAR_076015
14 FBN1 p.Ser634Pro VAR_076017
15 FBN1 p.Ala882Val VAR_076029
16 FBN1 p.Glu2250Gly VAR_076130
17 FBN1 p.Tyr2272Cys VAR_076132
18 FBN1 p.Cys2448Arg VAR_076141

ClinVar genetic disease variations for Ectopia Lentis 1, Isolated, Autosomal Dominant:

6
(show all 16)
# 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.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh38 Chromosome 15, 48425483: 48425483
3 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
4 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
5 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
6 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
7 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
8 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
9 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
10 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
11 FBN1 NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys) single nucleotide variant Pathogenic rs397514558 GRCh37 Chromosome 15, 48782210: 48782210
12 FBN1 NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys) single nucleotide variant Pathogenic rs397514558 GRCh38 Chromosome 15, 48490013: 48490013
13 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
14 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
15 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
16 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752

Expression for Ectopia Lentis 1, Isolated, Autosomal Dominant

Search GEO for disease gene expression data for Ectopia Lentis 1, Isolated, Autosomal Dominant.

Pathways for Ectopia Lentis 1, Isolated, Autosomal Dominant

GO Terms for Ectopia Lentis 1, Isolated, Autosomal Dominant

Sources for Ectopia Lentis 1, Isolated, Autosomal Dominant

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74 UMLS via Orphanet
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