MCID: ERL012
MIFTS: 27

Early-Onset Glaucoma

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

Aliases & Classifications for Early-Onset Glaucoma

MalaCards integrated aliases for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 25 73
Hereditary Glaucoma 25

Classifications:



External Ids:

UMLS 73 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.

MalaCards based summary : Early-Onset Glaucoma, also known as hereditary glaucoma, is related to anterior segment dysgenesis and tooth disease. 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, 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 33)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 29.7 CYP1B1 PITX2
2 tooth disease 29.0 MTMR2 SBF1 SBF2
3 charcot-marie-tooth disease 28.2 MTM1 MTMR2 SBF1 SBF2
4 anterior segment dysgenesis 4 11.8
5 singleton-merten syndrome 1 11.0
6 charcot-marie-tooth disease, demyelinating, type 4f 10.3 MTMR2 SBF2
7 charcot-marie-tooth disease, type 4j 10.3 MTMR2 SBF2
8 charcot-marie-tooth disease, type 4a 10.3 MTMR2 SBF2
9 glaucoma-related pigment dispersion syndrome 10.2 CYP1B1 PITX2
10 hydrophthalmos 10.2 CYP1B1 PITX2
11 axenfeld-rieger syndrome 10.0 CYP1B1 PITX2
12 cataract 10.0
13 aniridia 1 10.0 CYP1B1 PITX2
14 sturge-weber syndrome 9.9
15 weber syndrome 9.9
16 glaucoma 1, open angle, a 9.8 CYP1B1 MYOC
17 excessive tearing 9.8 CYP1B1 MYOC
18 charcot-marie-tooth disease, axonal, type 2e 9.7 MTM1 MTMR2 SBF2
19 corneal edema 9.7 CYP1B1 MYOC
20 peters-plus syndrome 9.7 CYP1B1 PITX2
21 primary angle-closure glaucoma 9.7 CYP1B1 MYOC
22 oculodentodigital dysplasia 9.6
23 glaucoma, primary open angle 9.5 CYP1B1 MYOC
24 intraocular pressure quantitative trait locus 9.3 CYP1B1 MYOC PITX2
25 primary congenital glaucoma 9.3 CYP1B1 MYOC PITX2
26 juvenile glaucoma 9.3 CYP1B1 MYOC PITX2
27 glaucoma 3, primary congenital, a 9.3 CYP1B1 MYOC PITX2
28 open-angle glaucoma 9.1 CYP1B1 MYOC
29 charcot-marie-tooth disease, type 4b3 9.1 MTM1 MTMR2 SBF1 SBF2
30 charcot-marie-tooth disease, type 4b2 9.1 MTM1 MTMR2 SBF1 SBF2
31 charcot-marie-tooth disease, type 4b1 9.1 MTM1 MTMR2 SBF1 SBF2
32 centronuclear myopathy 9.1 MTM1 MTMR2 SBF1 SBF2
33 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.1 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:

46
# 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:

41
Eye, Brain

Publications for Early-Onset Glaucoma

Articles related to Early-Onset Glaucoma:

(show all 13)
# Title Authors Year
1
Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. ( 29151681 )
2017
2
Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome. ( 27055677 )
2016
3
Conditional deletion of AP-2I^ in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. ( 27483349 )
2016
4
Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome. ( 24921174 )
2014
5
Determinants of severity at presentation among young patients with early onset glaucoma. ( 24212304 )
2013
6
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. ( 21282566 )
2011
7
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. ( 19429583 )
2009
8
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. ( 16768189 )
2006
9
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
10
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. ( 11774072 )
2002
11
Trabeculotomy-trabeculectomy for early-onset glaucoma. ( 10768320 )
2000
12
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. ( 10442913 )
1999
13
The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber syndrome. ( 10532726 )
1998

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 9.26 MTMR2 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 phosphatidylinositol binding GO:0035091 9.4 MTM1 SBF2
2 protein tyrosine phosphatase activity GO:0004725 9.37 MTM1 MTMR2
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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