Ectopia lentis 2, isolated, autosomal recessive

Preferred Label : Ectopia lentis 2, isolated, autosomal recessive;

Symbol : ECTOL2;

CISMeF acronym : ECTOL2;

Type : Phenotype, molecular basis known;

Description : Ectopia lentis (EL) 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAMTS-like 4 gene (ADAMTSL4, 610113.0001);

Prefixed ID : #225100;

Details

Origin ID

225100;

UMLS CUI

C3541474;

Automatic exact mappings (from CISMeF team)
- autosomal recessive isolated ectopia lentis 2 [DO Concept]
Broader ORDO disease(s)
- Isolated ectopia lentis [ORDO Disease]
Currated CISMeF NLP mapping
- ectopia lentis isolated autosomal recessive [Disease (Nov.)]
- ectopia lentis, isolated, autosomal recessive [MeSH Supplementary Concept]
- ectopia lentis, isolated, autosomal recessive [MeSH concept]
DO Cross reference
- autosomal recessive isolated ectopia lentis 2 [DO Concept]
Genes related to phenotype
- Adamts-like 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Ectopia lentis [HPO term]
- Uncomplicated ectopia lentis [HPO term]
ORDO concept(s)
- Isolated ectopia lentis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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