Details of Disease | DrugMAP

General Information of Disease (ID: DISK44PQ)

Disease Name	Ectopia lentis 1, isolated, autosomal dominant
Synonyms	autosomal dominant isolated ectopia lentis 1; ectopia lentis, familial; ECTOL1; FBN1 isolated ectopia lentis; ectopia lentis 1, isolated, autosomal dominant; isolated ectopia lentis caused by mutation in FBN1
Definition	Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.
Disease Hierarchy	DISYKSRF: Genetic disease DISJWTN6: Isolated ectopia lentis DISK44PQ: Ectopia lentis 1, isolated, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0007514 UMLS CUI C3541518 OMIM ID 129600 MedGen ID 762106

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBN1	OTYCJT63	Limited	Autosomal dominant	[1]
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References

1	A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis. 2012;18:945-50. Epub 2012 Apr 13.