Details of Disease
General Information of Disease (ID: DISYOU7C)
| Disease Name | FOXC1-related anterior segment dysgenesis | ||||
|---|---|---|---|---|---|
| Definition |
Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.|The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities.
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