Ectopia Lentis 1, Isolated, Autosomal Dominant (ECTOL1)

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Disease Ontology 12 DOID:0111150 OMIM 56 129600 MeSH 43 D004479

MedGen 41 C1851286 C2746069 C3149104 C3541518 more SNOMED-CT via HPO 68 263681008 74969002 UMLS 71 C1851286 C3541518

OMIM : ⁵⁶ 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 marfan syndrome. An important gene associated with Ectopia Lentis 1, Isolated, Autosomal Dominant is FBN1 (Fibrillin 1), and among its related pathways/superpathways are HIV Life Cycle and O-linked glycosylation. Affiliated tissues include skin, and related phenotypes are ectopia lentis and integument

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

UniProtKB/Swiss-Prot : ⁷³ 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.

Clinical features from OMIM:

129600

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

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