Details of Disease

General Information of Disease (ID: DISY7HN4)

• Disease Name: Primary congenital glaucoma
• Synonyms: primary congenital glaucoma (disease); primary congenital glaucoma
• Definition: Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.
• Disease Hierarchy:
  DISHN3GO: Congenital glaucoma
  DISY7HN4: Primary congenital glaucoma
• Disease Identifiers:
  MONDO ID: MONDO_0000365
  UMLS CUI: C1533041
  MedGen ID: 288550
  HPO ID: HP:0008007
  SNOMED CT ID: 415176004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ANGPT1	TTWNQ1T	Limited	Autosomal dominant	[1]
TEK	TT9VGXW	Limited	Genetic Variation	[2]
CYP2B6	TTMH124	Strong	Biomarker	[3]
TYR	TTULVH8	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A4	DTWDEIL	Strong	Biomarker	[5]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANGPT1	OTVZ1NG3	Limited	Autosomal dominant	[1]
LOXL1	OTA0NEJU	Disputed	Genetic Variation	[6]
LTBP2	OTS88GSD	Strong	Genetic Variation	[7]
SH3PXD2B	OTAOMCDJ	Strong	Biomarker	[8]
STATH	OTQHBHM9	Strong	Biomarker	[9]

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.
• [2] Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma.Eur J Ophthalmol. 2020 Jan;30(1):NP16-NP20. doi: 10.1177/1120672118805873. Epub 2018 Oct 14.
• [3] A clinical and molecular genetics study of primary congenital glaucoma in South Korea.Br J Ophthalmol. 2012 Nov;96(11):1372-7. doi: 10.1136/bjophthalmol-2012-301517. Epub 2012 Sep 1.
• [4] Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.Prog Retin Eye Res. 2007 Jul;26(4):323-58. doi: 10.1016/j.preteyeres.2007.01.001. Epub 2007 Jan 17.
• [5] Congenital glaucoma and CYP1B1: an old story revisited.Hum Genet. 2019 Sep;138(8-9):1043-1049. doi: 10.1007/s00439-018-1878-z. Epub 2018 Mar 19.
• [6] The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.J Ocul Pharmacol Ther. 2014 Mar-Apr;30(2-3):170-80. doi: 10.1089/jop.2013.0184. Epub 2014 Feb 12.
• [7] Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.Genet Test Mol Biomarkers. 2017 Apr;21(4):252-258. doi: 10.1089/gtmb.2016.0203. Epub 2017 Feb 27.
• [8] Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.Mol Vis. 2012;18:705-13. Epub 2012 Mar 26.
• [9] Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma.Front Biosci (Landmark Ed). 2011 Jun 1;16(6):2052-9. doi: 10.2741/3838.