ECTOL1
MCID: ECT098
MIFTS: 20

Ectopia Lentis 1, Isolated, Autosomal Dominant (ECTOL1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare 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 58 76 74
Ectol1 58 12 76
Ectopia Lentis, Familial 58 13
Autosomal Dominant Isolated Ectopia Lentis 1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ectopia lentis 1, isolated, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111150
OMIM 58 129600
SNOMED-CT via HPO 70 263681008 74969002

Summaries for Ectopia Lentis 1, Isolated, Autosomal Dominant

OMIM : 58 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 bone, 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 : 76 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 12.1
2 ectopia lentis 2, isolated, autosomal recessive 11.2
3 dwarfism 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 33 HP:0001083

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ectopia lentis, isolated (congenital lens dislocation)

Clinical features from OMIM:

129600

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:

42
Eye, Bone

Publications for Ectopia Lentis 1, Isolated, Autosomal Dominant

Variations for Ectopia Lentis 1, Isolated, Autosomal Dominant

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

76 (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 top 50) (show all 94)
# 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.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
4 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
5 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
6 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
7 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
8 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh38 Chromosome 15, 48505037: 48505037
9 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
10 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
11 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh37 Chromosome 15, 48760739: 48760739
12 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh38 Chromosome 15, 48468542: 48468542
13 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
14 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
15 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
16 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
17 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
18 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
19 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh37 Chromosome 15, 48936884: 48936884
20 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh38 Chromosome 15, 48644687: 48644687
21 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
22 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
23 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh37 Chromosome 15, 48936798: 48936798
24 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh38 Chromosome 15, 48644601: 48644601
25 FBN1 NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala) single nucleotide variant Uncertain significance rs201273753 GRCh37 Chromosome 15, 48764814: 48764814
26 FBN1 NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala) single nucleotide variant Uncertain significance rs201273753 GRCh38 Chromosome 15, 48472617: 48472617
27 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh37 Chromosome 15, 48764778: 48764778
28 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh38 Chromosome 15, 48472581: 48472581
29 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh37 Chromosome 15, 48758053: 48758053
30 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh38 Chromosome 15, 48465856: 48465856
31 FBN1 NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg) single nucleotide variant Uncertain significance rs141133182 GRCh37 Chromosome 15, 48707932: 48707932
32 FBN1 NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg) single nucleotide variant Uncertain significance rs141133182 GRCh38 Chromosome 15, 48415735: 48415735
33 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
34 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
35 FBN1 NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys) single nucleotide variant Pathogenic rs727503057 GRCh37 Chromosome 15, 48797303: 48797303
36 FBN1 NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys) single nucleotide variant Pathogenic rs727503057 GRCh38 Chromosome 15, 48505106: 48505106
37 FBN1 NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys) single nucleotide variant Pathogenic rs730880099 GRCh38 Chromosome 15, 48510125: 48510125
38 FBN1 NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys) single nucleotide variant Pathogenic rs730880099 GRCh37 Chromosome 15, 48802322: 48802322
39 FBN1 NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys) single nucleotide variant Pathogenic/Likely pathogenic rs794728334 GRCh38 Chromosome 15, 48437069: 48437069
40 FBN1 NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys) single nucleotide variant Pathogenic/Likely pathogenic rs794728334 GRCh37 Chromosome 15, 48729266: 48729266
41 FBN1 NM_000138.4(FBN1): c.4727T> C (p.Met1576Thr) single nucleotide variant Uncertain significance rs776625874 GRCh38 Chromosome 15, 48467958: 48467958
42 FBN1 NM_000138.4(FBN1): c.4727T> C (p.Met1576Thr) single nucleotide variant Uncertain significance rs776625874 GRCh37 Chromosome 15, 48760155: 48760155
43 FBN1 NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn) single nucleotide variant Pathogenic/Likely pathogenic rs794728208 GRCh37 Chromosome 15, 48777571: 48777571
44 FBN1 NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn) single nucleotide variant Pathogenic/Likely pathogenic rs794728208 GRCh38 Chromosome 15, 48485374: 48485374
45 FBN1 NM_000138.4(FBN1): c.2934C> G (p.Asp978Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs138438849 GRCh38 Chromosome 15, 48489999: 48489999
46 FBN1 NM_000138.4(FBN1): c.2934C> G (p.Asp978Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs138438849 GRCh37 Chromosome 15, 48782196: 48782196
47 FBN1 NM_000138.4(FBN1): c.2645C> T (p.Ala882Val) single nucleotide variant Pathogenic/Likely pathogenic rs794728195 GRCh38 Chromosome 15, 48495155: 48495155
48 FBN1 NM_000138.4(FBN1): c.2645C> T (p.Ala882Val) single nucleotide variant Pathogenic/Likely pathogenic rs794728195 GRCh37 Chromosome 15, 48787352: 48787352
49 FBN1 NM_000138.4(FBN1): c.2206A> G (p.Asn736Asp) single nucleotide variant Uncertain significance rs878853678 GRCh37 Chromosome 15, 48789550: 48789550
50 FBN1 NM_000138.4(FBN1): c.2206A> G (p.Asn736Asp) single nucleotide variant Uncertain significance rs878853678 GRCh38 Chromosome 15, 48497353: 48497353

Expression for Ectopia Lentis 1, Isolated, Autosomal Dominant

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Pathways for Ectopia Lentis 1, Isolated, Autosomal Dominant

GO Terms for Ectopia Lentis 1, Isolated, Autosomal Dominant

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