Isolated Ectopia Lentis (IEL)

Alias:
Familial Ectopia Lentis
Ectopia Lentis
Ectopia Lentis Syndrome
Lens Subluxation
Congenital Ectopia Lentis
Ectopia Lentis, Isolated
Ectopia Lentis Isolated
Subluxation of Lens
Iel
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Ectopia Lentis, also known as familial ectopia lentis, is related to craniosynostosis with ectopia lentis and ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Isolated Ectopia Lentis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and Phospholipase-C Pathway. The drugs Midazolam and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are joint stiffness and ectopia lentis
Related ID:
MESH:C536184

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
<1/1000000
20
111
32

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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