Details of Disease

General Information of Disease (ID: DISHN3GO)

• Disease Name: Congenital glaucoma
• Synonyms: primary congenital glaucoma; buphthalmos; Buphthalmus; buphthalmia
• Definition: A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.|Editor note: check placement of subclasses
• Disease Hierarchy:
  DISJYSR1: Hereditary glaucoma
  DISHN3GO: Congenital glaucoma
• Disease Identifiers:
  MONDO ID: MONDO_0020366
  MESH ID: D006871
  UMLS CUI: C0020302
  MedGen ID: 42532
  SNOMED CT ID: 204113001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TCF7L2	TT80QAL	Limited	Unknown	[1]
TEK	TT9VGXW	Supportive	Autosomal dominant	[2]
CYP1B1	TTI84H7	Strong	Genetic Variation	[3]
FOXC1	TTNT3YA	Strong	Genetic Variation	[4]
TEK	TT9VGXW	Strong	GermlineCausalMutation	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	DE9QHP6	Supportive	Autosomal dominant	[5]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCF7L2	OTVWPZ8B	Limited	Unknown	[1]
CYP1B1	OTYXFLSD	Supportive	Autosomal dominant	[5]
LTBP2	OTS88GSD	Supportive	Autosomal dominant	[6]
MYOC	OT6DAHNF	Supportive	Autosomal dominant	[5]
TEK	OT78YN57	Supportive	Autosomal dominant	[2]
ARHGAP1	OT0H2ZBZ	moderate	Genetic Variation	[7]
GDAP1	OTQE1O25	moderate	Biomarker	[8]
GPATCH3	OTCRL37V	moderate	Biomarker	[9]
LGALS7	OTMSVI7R	moderate	Biomarker	[10]
NUFIP2	OTZBZ224	moderate	Biomarker	[10]
ADAMTSL1	OTBNYF3F	Strong	Genetic Variation	[11]
FUT8	OTJJCVG1	Strong	Genetic Variation	[12]
GLIS3	OTBC960E	Strong	Biomarker	[13]
OCRL	OTQ3L42N	Strong	Genetic Variation	[7]
PAX6	OTOC9876	Strong	Altered Expression	[14]
PITX2	OTWMXAOY	Strong	Genetic Variation	[15]
PXDN	OTFGGM9R	Strong	Genetic Variation	[16]
SH3PXD2B	OTAOMCDJ	Strong	Genetic Variation	[17]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6.
• [3] Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.Int J Ophthalmol. 2019 Apr 18;12(4):607-614. doi: 10.18240/ijo.2019.04.14. eCollection 2019.
• [4] Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer.Vision Res. 2019 Mar;156:66-72. doi: 10.1016/j.visres.2019.01.008. Epub 2019 Feb 2.
• [5] Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2.
• [6] Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9.
• [7] Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Sci Rep. 2017 May 4;7(1):1442. doi: 10.1038/s41598-017-01447-3.
• [8] Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.Arq Neuropsiquiatr. 1999 Jun;57(2A):190-4. doi: 10.1590/s0004-282x1999000200004.
• [9] Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175.
• [10] Familial transmission risk of infantile glaucoma in Australia.Ophthalmic Genet. 2006 Sep;27(3):93-7. doi: 10.1080/13816810600870843.
• [11] Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.Hum Mutat. 2017 Nov;38(11):1485-1490. doi: 10.1002/humu.23299. Epub 2017 Aug 1.
• [12] Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8.J AAPOS. 2019 Dec;23(6):351-352. doi: 10.1016/j.jaapos.2019.08.272. Epub 2019 Sep 30.
• [13] Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006 Jun;38(6):682-7. doi: 10.1038/ng1802. Epub 2006 May 21.
• [14] Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma.Hum Mol Genet. 2010 Sep 1;19(17):3332-42. doi: 10.1093/hmg/ddq237. Epub 2010 Jun 10.
• [15] Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.PLoS One. 2019 Jan 18;14(1):e0211029. doi: 10.1371/journal.pone.0211029. eCollection 2019.
• [16] Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.PLoS One. 2016 Jul 13;11(7):e0159259. doi: 10.1371/journal.pone.0159259. eCollection 2016.
• [17] Effect of ocular hypertension on the pattern of retinal ganglion cell subtype loss in a mouse model of early-onset glaucoma.Exp Eye Res. 2019 Aug;185:107703. doi: 10.1016/j.exer.2019.107703. Epub 2019 Jun 15.