glaucoma 3A
Findings
No curated finding names glaucoma 3A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.
Definition from the Mondo Disease Ontology (MONDO:0009277), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corneal stromal edemaHPOHP:0012040
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- Abnormal Descemet membrane morphologyHPOHP:0011490
- Frequent (30% to 79% of cases)
- BlepharospasmHPOHP:0000643
- Frequent (30% to 79% of cases)
- BuphthalmosHPOHP:0000557
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Deep anterior chamber
Show the remaining 7
- Reduced anterior scleral thicknessHPOHP:0025751
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- AnisometropiaHPOHP:0012803
- Occasional (5% to 29% of cases)
- IridodonesisHPOHP:0100693
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- Occasional (5% to 29% of cases)
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 · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: glaucoma 3A
- Also called
- glaucoma 3, primary congenital, type aglaucoma 3A, primary open angle, congenital, juvenile, or adult onsetPrimary Congenital glaucoma 3A