Ectopia lentis 1, isolated, autosomal dominant

Preferred Label : Ectopia lentis 1, isolated, autosomal dominant;

Symbol : ECTOL1;

CISMeF acronym : ECTOL1;

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 recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0015);

Prefixed ID : #129600;

Details

Origin ID

129600;

UMLS CUI

C3541518;

Automatic exact mappings (from CISMeF team)
- autosomal dominant isolated ectopia lentis 1 [DO Concept]
Broader ORDO disease(s)
- Isolated ectopia lentis [ORDO Disease]
DO Cross reference
- autosomal dominant isolated ectopia lentis 1 [DO Concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital lens dislocation [HPO term]
- Ectopia lentis [HPO term]
- Isolated ectopia lentis [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Isolated ectopia lentis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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