General Information of Disease (ID: DISSND1E)

Disease Name CYP1B1-related glaucoma with or without anterior segment dysgenesis
Definition Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.
Disease Hierarchy
DISY7HN4: Primary congenital glaucoma
DISSND1E: CYP1B1-related glaucoma with or without anterior segment dysgenesis

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP1B1 DE9QHP6 Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP1B1 OTYXFLSD Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.