Details of Disease

General Information of Disease (ID: DISHJWKA)

• Disease Name: Glaucoma 3A
• Synonyms: glaucoma, congenital; GLC3A; glaucoma, primary open angle, juvenile-onset; glaucoma 3, primary congenital, A; glaucoma, primary open angle, adult-onset; buphthalmos; Primary Congenital glaucoma 3A; glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; simple buphthalmos; glaucoma 3, primary congenital, type a
• Definition: An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.
• Disease Hierarchy:
  DISSND1E: CYP1B1-related glaucoma with or without anterior segment dysgenesis
  DISHJWKA: Glaucoma 3A
• Disease Identifiers:
  MONDO ID: MONDO_0009277
  UMLS CUI: C1856439
  OMIM ID: 231300
  MedGen ID: 383912
  Orphanet ID: 98976

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	TTI84H7	moderate	Genetic Variation	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	DE9QHP6	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYOC	OT6DAHNF	Limited	Autosomal dominant	[3]
CYP1B1	OTYXFLSD	Definitive	Autosomal recessive	[2]

References

• [1] Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.PLoS One. 2016 May 31;11(5):e0156252. doi: 10.1371/journal.pone.0156252. eCollection 2016.
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [3] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.