MCID: ERL012
MIFTS: 28

Early-Onset Glaucoma

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

Aliases & Classifications for Early-Onset Glaucoma

MalaCards integrated aliases for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 24 69
Hereditary Glaucoma 24

Classifications:



External Ids:

UMLS 69 C3711383

Summaries for Early-Onset Glaucoma

Genetics Home Reference : 24 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 tooth disease and charcot-marie-tooth disease. An important gene associated with Early-Onset Glaucoma is MTMR2 (Myotubularin Related Protein 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 31)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.1 MTMR2 SBF1 SBF2
2 charcot-marie-tooth disease 28.7 MTM1 MTMR2 SBF1 SBF2
3 anterior segment dysgenesis 4 11.8
4 singleton-merten syndrome 1 11.0
5 glaucoma 1, open angle, a 10.1 CYP1B1 MYOC
6 excessive tearing 10.1 CYP1B1 MYOC
7 congenital hypomyelination neuropathy 10.0 MTMR2 SBF2
8 corneal edema 10.0 CYP1B1 MYOC
9 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MTMR2 SBF2
10 charcot-marie-tooth disease, type 4j 10.0 MTMR2 SBF2
11 primary angle-closure glaucoma 10.0 CYP1B1 MYOC
12 cataract 10.0
13 charcot-marie-tooth disease, type 4a 10.0 MTMR2 SBF2
14 sturge-weber syndrome 9.9
15 weber syndrome 9.9
16 hydrophthalmos 9.9 CYP1B1 PITX2
17 glaucoma, primary open angle 9.8 CYP1B1 MYOC
18 axenfeld-rieger syndrome 9.8 CYP1B1 PITX2
19 charcot-marie-tooth disease, axonal, type 2e 9.7 MTM1 MTMR2 SBF2
20 aniridia 1 9.7 CYP1B1 PITX2
21 peters-plus syndrome 9.7 CYP1B1 PITX2
22 open-angle glaucoma 9.7 CYP1B1 MYOC
23 intraocular pressure quantitative trait locus 9.5 CYP1B1 MYOC PITX2
24 primary congenital glaucoma 9.5 CYP1B1 MYOC PITX2
25 juvenile glaucoma 9.5 CYP1B1 MYOC PITX2
26 glaucoma 3, primary congenital, a 9.5 CYP1B1 MYOC PITX2
27 charcot-marie-tooth disease, type 4b3 9.4 MTM1 MTMR2 SBF1 SBF2
28 charcot-marie-tooth disease, type 4b2 9.4 MTM1 MTMR2 SBF1 SBF2
29 charcot-marie-tooth disease, type 4b1 9.4 MTM1 MTMR2 SBF1 SBF2
30 centronuclear myopathy 9.4 MTM1 MTMR2 SBF1 SBF2
31 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.4 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:

43
# 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:

38
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
Conditional deletion of AP-2I^ in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. ( 27483349 )
2016
3
Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome. ( 27055677 )
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 regulation of GTPase activity GO:0043087 9.32 SBF1 SBF2
3 protein tetramerization GO:0051262 9.26 MTMR2 SBF2
4 phosphatidylinositol dephosphorylation GO:0046856 9.16 MTM1 MTMR2
5 protein dephosphorylation GO:0006470 9.13 MTM1 MTMR2 SBF1
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 phosphatase activity GO:0016791 9.43 MTM1 MTMR2
2 protein tyrosine phosphatase activity GO:0004725 9.4 MTM1 MTMR2
3 phosphatidylinositol binding GO:0035091 9.37 MTM1 SBF2
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.32 SBF1 SBF2
5 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.26 MTMR2 SBF1
6 phosphatidylinositol-3-phosphatase activity GO:0004438 9.16 MTM1 MTMR2
7 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.96 MTM1 MTMR2
8 phosphatase regulator activity GO:0019208 8.62 SBF1 SBF2

Sources for Early-Onset Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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