MCID: ERL012
MIFTS: 27

Early-Onset Glaucoma

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Glaucoma

MalaCards integrated aliases for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 25 71
Hereditary Glaucoma 25 58

Characteristics:

Orphanet epidemiological data:

58
hereditary glaucoma
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 58 ORPHA359
UMLS 71 C3711383

Summaries for Early-Onset Glaucoma

Genetics Home Reference : 25 Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40. In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes. Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity. Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.

MalaCards based summary : Early-Onset Glaucoma, also known as hereditary glaucoma, is related to glaucoma 1, open angle, a and corneal edema. An important gene associated with Early-Onset Glaucoma is SBF2 (SET Binding Factor 2), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include eye and brain.

Related Diseases for Early-Onset Glaucoma

Diseases in the Juvenile Glaucoma family:

Glaucoma 3, Primary Congenital, a Glaucoma 3, Primary Infantile, B
Glaucoma 3, Primary Congenital, C Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, E Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a Early-Onset Glaucoma
Primary Early-Onset Glaucoma Secondary Early-Onset Glaucoma

Diseases related to Early-Onset Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 32.4 MYOC CYP1B1
2 corneal edema 29.9 MYOC CYP1B1
3 anterior segment dysgenesis 29.6 PITX2 CYP1B1
4 tooth disease 29.5 SBF2 SBF1 MTMR2
5 peripheral nervous system disease 29.5 SBF2 MTMR2 MTM1
6 glaucoma, primary open angle 29.3 MYOC CYP1B1
7 charcot-marie-tooth disease, type 4b1 29.0 SBF2 SBF1 MTMR2 MTM1
8 centronuclear myopathy 29.0 SBF2 SBF1 MTMR2 MTM1
9 juvenile glaucoma 29.0 PITX2 MYOC CYP1B1
10 primary congenital glaucoma 29.0 PITX2 MYOC CYP1B1
11 glaucoma 3, primary congenital, a 29.0 PITX2 MYOC CYP1B1
12 intraocular pressure quantitative trait locus 28.9 SBF2 PITX2 MYOC MTMR2 CYP1B1
13 charcot-marie-tooth disease, type 4b2 28.6 SBF2 SBF1 MTMR2 MTM1 LOC101928008
14 charcot-marie-tooth disease 28.6 SBF2 SBF1 MTMR2 MTM1 LOC101928008
15 primary early-onset glaucoma 12.5
16 secondary early-onset glaucoma 12.5
17 secondary early-onset glaucoma of genetic origin 12.5
18 anterior segment dysgenesis 4 12.1
19 singleton-merten syndrome 1 11.2
20 open-angle glaucoma 10.1
21 cataract 10.1
22 charcot-marie-tooth disease, dominant intermediate e 10.1 SBF2 MTMR2
23 charcot-marie-tooth disease, axonal, type 2j 10.1 SBF2 MTMR2
24 charcot-marie-tooth disease, demyelinating, type 4f 10.1 SBF2 MTMR2
25 charcot-marie-tooth disease, type 4a 10.1 SBF2 MTMR2
26 charcot-marie-tooth disease, type 4j 10.1 SBF2 MTMR2
27 charcot-marie-tooth disease, demyelinating, type 1b 10.1 SBF2 MTMR2
28 charcot-marie-tooth disease, type 4d 10.1 SBF2 MTMR2
29 charcot-marie-tooth disease, type 4c 10.1 SBF2 MTMR2
30 sturge-weber syndrome 10.1
31 persistent hyperplastic primary vitreous, autosomal recessive 10.1
32 weber syndrome 10.1
33 charcot-marie-tooth disease, axonal, type 2b 10.0 SBF2 MTMR2
34 yunis-varon syndrome 10.0 SBF2 MTMR2
35 charcot-marie-tooth disease, demyelinating, type 1c 10.0 SBF2 MTMR2
36 corneal dystrophy, fleck 10.0 SBF2 MTMR2
37 excessive tearing 10.0 MYOC CYP1B1
38 charcot-marie-tooth disease, demyelinating, type 1a 10.0 SBF2 MTMR2
39 glaucoma-related pigment dispersion syndrome 10.0 MYOC CYP1B1
40 steroid-induced glaucoma 10.0 MYOC CYP1B1
41 microphthalmia, isolated 2 10.0 MYOC CYP1B1
42 phacogenic glaucoma 10.0 MYOC CYP1B1
43 neuropathy, hereditary, with liability to pressure palsies 9.9 SBF2 MTMR2
44 frank-ter haar syndrome 9.9
45 microphthalmia 9.9
46 myopathy 9.9
47 endophthalmitis 9.9
48 neuropathy 9.9
49 ocular hypertension 9.9
50 refractive error 9.9

Graphical network of the top 20 diseases related to Early-Onset Glaucoma:



Diseases related to Early-Onset Glaucoma

Symptoms & Phenotypes for Early-Onset Glaucoma

Drugs & Therapeutics for Early-Onset Glaucoma

Search Clinical Trials , NIH Clinical Center for Early-Onset Glaucoma

Genetic Tests for Early-Onset Glaucoma

Anatomical Context for Early-Onset Glaucoma

MalaCards organs/tissues related to Early-Onset Glaucoma:

40
Eye, Brain

Publications for Early-Onset Glaucoma

Articles related to Early-Onset Glaucoma:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes. 61
31999318 2020
2
Episcleral hemangioma distribution patterns could be an indicator of trabeculotomy prognosis in young SWS patients. 61
32003156 2020
3
Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss. 61
31836490 2020
4
Effect of ocular hypertension on the pattern of retinal ganglion cell subtype loss in a mouse model of early-onset glaucoma. 61
31211954 2019
5
Antibodies Used to Detect Glaucoma-Associated Myocilin: More or Less Than Meets the Eye? 61
31067323 2019
6
Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed. 61
30696701 2019
7
Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer. 61
30684501 2019
8
Using Deep Learning and Transfer Learning to Accurately Diagnose Early-Onset Glaucoma From Macular Optical Coherence Tomography Images. 61
30316669 2019
9
Early Predictors of Long-term Outcomes in Childhood Glaucoma. 61
30059407 2018
10
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients. 61
30457409 2018
11
Anterograde Transport in Axons of the Retinal Ganglion Cells and its Relationship to the Intraocular Pressure during Aging in Mice with Hereditary Pigmentary Glaucoma. 61
29283693 2018
12
Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model. 61
29258748 2018
13
The increased expression of GABA receptors within the arcuate nucleus is associated with high intraocular pressure. 61
30174387 2018
14
Glaucoma in Patients with Eyes Close to Areas Affected by Port-wine Stain has Lateral and Gender Predilection. 61
29237924 2017
15
Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. 61
28807733 2017
16
Norrin protects optic nerve axons from degeneration in a mouse model of glaucoma. 61
29079753 2017
17
Generation of a new mouse model of glaucoma characterized by reduced expression of the AP-2β and AP-2δ proteins. 61
28894266 2017
18
Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. 61
29151681 2017
19
Genetics of glaucoma. 61
28505344 2017
20
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. 61
28575017 2017
21
Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort. 61
29082038 2017
22
Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. 61
27483349 2016
23
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. 61
27484908 2016
24
Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome. 61
27055677 2016
25
Glaucoma Genes and Mechanisms. 61
26310163 2015
26
Peroxidasin is essential for eye development in the mouse. 61
24895407 2014
27
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing. 61
25462154 2014
28
Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome. 61
24921174 2014
29
Determinants of severity at presentation among young patients with early onset glaucoma. 61
24212304 2013
30
Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. 61
23621901 2013
31
Visual diagnosis: 2-month-old girl with left eye swelling, profuse tearing. 61
23908367 2013
32
Failure of axonal transport induces a spatially coincident increase in astrocyte BDNF prior to synapse loss in a central target. 61
23159315 2013
33
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. 61
23239455 2013
34
Exploring Raman spectroscopy for the evaluation of glaucomatous retinal changes. 61
22029368 2011
35
[Hereditary glaucoma associated with oculodentodigital dysplasia]. 61
21893263 2011
36
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. 61
21282566 2011
37
Sturge-Weber syndrome with congenital glaucoma and cytochrome P450 (CYP1B1) gene mutations. 61
20051892 2010
38
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. 61
20827438 2010
39
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. 61
19429583 2009
40
Manganese-enhanced MRI of the DBA/2J mouse model of hereditary glaucoma. 61
18552381 2008
41
Risk factors for complications after congenital cataract surgery without intraocular lens implantation in the first 18 months of life. 61
18407241 2008
42
Color Doppler imaging of retrobulbar hemodynamics in Sturge-Weber syndrome-associated glaucoma. 61
18320507 2008
43
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. 61
17653043 2007
44
[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. 61
18260289 2007
45
The aetiology in paediatric aphakic glaucoma. 61
16284603 2006
46
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
47
Progressive ganglion cell loss and optic nerve degeneration in DBA/2J mice is variable and asymmetric. 61
17018142 2006
48
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. 61
16768189 2006
49
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
50
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. 61
16775364 2006

Variations for Early-Onset Glaucoma

Expression for Early-Onset Glaucoma

Search GEO for disease gene expression data for Early-Onset Glaucoma.

Pathways for Early-Onset Glaucoma

Pathways related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.58 SBF2 SBF1

GO Terms for Early-Onset Glaucoma

Cellular components related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.26 SBF2 MYOC MTMR2 MTM1
2 vacuolar membrane GO:0005774 8.62 SBF2 MTMR2

Biological processes related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.33 SBF1 MTMR2 MTM1
2 regulation of GTPase activity GO:0043087 9.26 SBF2 SBF1
3 phosphatidylinositol dephosphorylation GO:0046856 8.96 MTMR2 MTM1
4 phosphatidylinositol biosynthetic process GO:0006661 8.8 SBF1 MTMR2 MTM1

Molecular functions related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.43 SBF1 MTMR2 MTM1
2 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.37 SBF1 MTMR2
3 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.32 SBF2 SBF1
4 phosphatidylinositol-3-phosphatase activity GO:0004438 9.16 MTMR2 MTM1
5 phosphatase regulator activity GO:0019208 8.96 SBF2 SBF1
6 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.62 MTMR2 MTM1

Sources for Early-Onset Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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