MCID: ERL012
MIFTS: 29

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 26 74
Hereditary Glaucoma 26

Classifications:



External Ids:

UMLS 74 C3711383

Summaries for Early-Onset Glaucoma

Genetics Home Reference : 26 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.

MalaCards based summary : Early-Onset Glaucoma, also known as hereditary glaucoma, is related to anterior segment dysgenesis and glaucoma 1, open angle, a. 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, brain and bone, and related phenotype is reproductive system.

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

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 30.1 CYP1B1 PITX2
2 glaucoma 1, open angle, a 29.8 CYP1B1 MYOC
3 glaucoma 3, primary congenital, a 29.6 CYP1B1 MYOC PITX2
4 tooth disease 29.4 MTMR2 SBF1 SBF2
5 charcot-marie-tooth disease 28.8 MTM1 MTMR2 SBF1 SBF2
6 anterior segment dysgenesis 4 12.0
7 singleton-merten syndrome 1 11.1
8 glaucoma-related pigment dispersion syndrome 10.1 CYP1B1 PITX2
9 hydrophthalmos 10.1 CYP1B1 PITX2
10 cataract 10.1
11 axenfeld-rieger syndrome, type 3 10.1 CYP1B1 PITX2
12 excessive tearing 10.1 CYP1B1 MYOC
13 axenfeld-rieger syndrome 10.1 CYP1B1 PITX2
14 sturge-weber syndrome 10.0
15 weber syndrome 10.0
16 aniridia 1 10.0 CYP1B1 PITX2
17 corneal edema 10.0 CYP1B1 MYOC
18 primary angle-closure glaucoma 10.0 CYP1B1 MYOC
19 peters-plus syndrome 10.0 CYP1B1 PITX2
20 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MTMR2 SBF2
21 glaucoma, primary open angle 9.9 CYP1B1 MYOC
22 spinocerebellar ataxia type 1 with axonal neuropathy 9.9 MTMR2 SBF2
23 charcot-marie-tooth disease, type 4j 9.9 MTMR2 SBF2
24 charcot-marie-tooth disease, type 4a 9.9 MTMR2 SBF2
25 primary congenital glaucoma 9.9 CYP1B1 MYOC PITX2
26 juvenile glaucoma 9.9 CYP1B1 MYOC PITX2
27 adamantinoma of long bones 9.8 CYP1B1 MYOC PITX2
28 oculodentodigital dysplasia 9.8
29 open-angle glaucoma 9.7 CYP1B1 MYOC
30 charcot-marie-tooth disease, axonal, type 2e 9.6 MTM1 MTMR2 SBF2
31 peripheral nervous system disease 9.6 MTM1 MTMR2
32 centronuclear myopathy 9.5 MTM1 MTMR2 SBF1
33 charcot-marie-tooth disease, type 4b3 9.3 MTM1 MTMR2 SBF1 SBF2
34 charcot-marie-tooth disease, type 4b2 9.3 MTM1 MTMR2 SBF1 SBF2
35 charcot-marie-tooth disease, type 4b1 9.3 MTM1 MTMR2 SBF1 SBF2

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



Diseases related to Early-Onset Glaucoma

Symptoms & Phenotypes for Early-Onset Glaucoma

MGI Mouse Phenotypes related to Early-Onset Glaucoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 MTM1 MTMR2 PITX2 SBF1 SBF2

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:

42
Eye, Brain, Bone

Publications for Early-Onset Glaucoma

Articles related to Early-Onset Glaucoma:

(show all 26)
# Title Authors Year
1
Using Deep Learning and Transfer Learning to Accurately Diagnose Early-Onset Glaucoma From Macular Optical Coherence Tomography Images. ( 30316669 )
2019
2
Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model. ( 29258748 )
2018
3
Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. ( 29151681 )
2017
4
Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. ( 27483349 )
2016
5
Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome. ( 27055677 )
2016
6
Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome. ( 24921174 )
2014
7
Determinants of severity at presentation among young patients with early onset glaucoma. ( 24212304 )
2013
8
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. ( 21282566 )
2011
9
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. ( 19429583 )
2009
10
Manganese-enhanced MRI of the DBA/2J mouse model of hereditary glaucoma. ( 18552381 )
2008
11
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. ( 16768189 )
2006
12
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. ( 12687498 )
2003
13
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. ( 11774072 )
2002
14
Trabeculotomy-trabeculectomy for early-onset glaucoma. ( 10768320 )
2000
15
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. ( 10442913 )
1999
16
The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber syndrome. ( 10532726 )
1998
17
Histomorphometry of the optic nerves of normal dogs and dogs with hereditary glaucoma. ( 7720807 )
1995
18
Optic nerve head axonal transport in rabbits with hereditary glaucoma. ( 2439361 )
1987
19
Hereditary glaucoma and buphthalmia in the rabbit. ( 2446337 )
1987
20
Hereditary glaucoma: a report of two pedigrees. ( 4091373 )
1985
21
HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY. ( 14193667 )
1964
22
Recent observations upon the occurrence of hereditary glaucoma. ( 13800924 )
1959
23
A survey of hereditary glaucoma. ( 14945029 )
1952
24
Notes upon the question of hereditary glaucoma. ( 14882772 )
1951
25
A PEDIGREE OF A FAMILY SHOWING HEREDITARY GLAUCOMA. ( 18168658 )
1927
26
Hereditary Glaucoma Affecting Three Generations. ( 29007484 )
1924

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 SBF1 SBF2

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 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

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

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine dephosphorylation GO:0035335 9.37 MTM1 MTMR2
2 protein dephosphorylation GO:0006470 9.33 MTM1 MTMR2 SBF1
3 regulation of GTPase activity GO:0043087 9.32 SBF1 SBF2
4 protein tetramerization GO:0051262 8.96 SBF2
5 phosphatidylinositol dephosphorylation GO:0046856 8.96 MTM1 MTMR2
6 phosphatidylinositol biosynthetic process GO:0006661 8.8 MTM1 MTMR2 SBF1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine phosphatase activity GO:0004725 9.4 MTM1 MTMR2
2 phosphatidylinositol binding GO:0035091 9.37 MTM1 SBF2
3 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.32 SBF1 SBF2
4 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.26 MTMR2 SBF1
5 phosphatidylinositol-3-phosphatase activity GO:0004438 9.16 MTM1 MTMR2
6 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.96 MTM1 MTMR2
7 phosphatase regulator activity GO:0019208 8.62 SBF1 SBF2

Sources for Early-Onset Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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