CYP1B1-related glaucoma with or without anterior segment dysgenesis
MONDO:0800472Mondo
Findings
No curated finding names CYP1B1-related glaucoma with or without anterior segment dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.
Definition from the Mondo Disease Ontology (MONDO:0800472), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP1B1HGNC:2597
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
- Narrower terms (2)