Ectopia Lentis 2, Isolated, Autosomal Recessive

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OMIM 57 225100 Disease Ontology 12 DOID:0111149 MedGen 42 C3541474 C2673634

MeSH 44 D004479 SNOMED-CT via HPO 69 258211005 74969002 UMLS 73 C3541474

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). An autosomal dominant form of isolated ectopia lentis (ECTOL1; 129600) is caused by mutation in the FBN1 gene (134797). Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (154700), Weill-Marchesani syndrome (see 277600), and homocystinuria (236200). (225100)

MalaCards based summary : Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectopia lentis, isolated autosomal recessive, is related to isolated ectopia lentis. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye, and related phenotype is ectopia lentis.

Disease Ontology : ¹² An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

UniProtKB/Swiss-Prot : ⁷⁵ Ectopia lentis 2, isolated, autosomal recessive: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

Clinical features from OMIM:

225100

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