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exfoliation syndrome
Disease Summary
Associated Targets (10)
Tbio
7
Tdark
2
Tchem
1
Mondo Description An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.
Uniprot Description A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
COHD:437273
DOID:13641
EFO:0004235
ICD9:365.52
MESH:D017889
NCIT:C129025
OMIM:177650
SCTID:111514006
UMLS:C0206368
MONDO:0008327
High level summary of knowledge for a disease, including descriptions and datasource references.