Details of Disease

General Information of Disease (ID: DISZ43T5)

Disease Name Juvenile open angle glaucoma
Synonyms glaucoma (disease) of childhood; paediatric glaucoma (disease); childhood glaucoma (disease); pediatric glaucoma (disease); glaucoma of childhood; juvenile glaucoma; JOAG
Definition
Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.
Disease Hierarchy
DISLBXBY: Glaucoma/ocular hypertension
DISSZEE8: Open-angle glaucoma
DISJYSR1: Hereditary glaucoma
DISZ43T5: Juvenile open angle glaucoma
Disease Identifiers
MONDO ID
MONDO_0020367
UMLS CUI
C2981140
MedGen ID
453382
HPO ID
HP:0001087
Orphanet ID
98977
SNOMED CT ID
71111008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP1B1 TTI84H7 Limited CausalMutation [1]
FOXC1 TTNT3YA Limited Genetic Variation [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAX6 OTOC9876 Limited Altered Expression [3]
MYOC OT6DAHNF Supportive Autosomal dominant [4]
LGALS7 OTMSVI7R moderate Biomarker [5]
NUFIP2 OTZBZ224 moderate Biomarker [5]
FUT8 OTJJCVG1 Strong Genetic Variation [6]
PITX2 OTWMXAOY Strong Biomarker [7]
PXDN OTFGGM9R Strong Genetic Variation [8]
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⏷ Show the Full List of 7 DOT(s)

References

1 Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.PLoS One. 2017 Apr 27;12(4):e0176386. doi: 10.1371/journal.pone.0176386. eCollection 2017.
2 Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646.
3 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.
4 Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2.
5 Familial transmission risk of infantile glaucoma in Australia.Ophthalmic Genet. 2006 Sep;27(3):93-7. doi: 10.1080/13816810600870843.
6 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.
7 Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251.
8 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.