Details of Disease

General Information of Disease (ID: DISJYSR1)

Disease Name Hereditary glaucoma
Synonyms glaucoma, hereditary; hereditary glaucoma (disease)
Definition
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Disease Hierarchy
DISLBXBY: Glaucoma/ocular hypertension
DISYKSRF: Genetic disease
DISJYSR1: Hereditary glaucoma
Disease Identifiers
MONDO ID
MONDO_0018174
MESH ID
C580055
UMLS CUI
C3711383
MedGen ID
777991
Orphanet ID
359

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FOXC1 TTNT3YA Strong Genetic Variation [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MTMR2 OTNCYGBP Disputed Genetic Variation [2]
SBF1 OTW6I9RV Disputed Genetic Variation [2]
SBF2 OTBB8NO8 Disputed Genetic Variation [2]
AP2B1 OTL6LZJ4 Strong Altered Expression [3]
MYOC OT6DAHNF Strong Biomarker [4]
RPS19 OTBKGP48 Strong Biomarker [5]
TFAP2B OTR1T8E9 Strong Altered Expression [3]
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⏷ Show the Full List of 7 DOT(s)

References

1 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.
2 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8.
3 Generation of a new mouse model of glaucoma characterized by reduced expression of the AP-2 and AP-2 proteins.Sci Rep. 2017 Sep 11;7(1):11140. doi: 10.1038/s41598-017-11752-6.
4 Antibodies Used to Detect Glaucoma-Associated Myocilin: More or Less Than Meets the Eye?.Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2034-2037. doi: 10.1167/iovs.19-26843.
5 The increased expression of GABA receptors within the arcuate nucleus is associated with high intraocular pressure.Mol Vis. 2018 Aug 15;24:574-586. eCollection 2018.