MCID: ERL012
MIFTS: 25

Early-Onset Glaucoma malady

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

Aliases & Classifications for Early-Onset Glaucoma

Aliases & Descriptions for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 25 69
Hereditary Glaucoma 25

Classifications:



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 iridogoniodysgenesis, type 2 and singleton-merten syndrome 1. 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 Infantile, B Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, C Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a Cyp1b1-Related Primary Congenital Glaucoma
Ltbp2-Related Primary Congenital Glaucoma Early-Onset Glaucoma
Glaucoma 3, Primary Congenital, E

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

(show all 33)
id Related Disease Score Top Affiliating Genes
1 iridogoniodysgenesis, type 2 11.6
2 singleton-merten syndrome 1 10.9
3 pituitary hormone deficiency, combined, 4 10.1 CYP1B1 MYOC
4 chronic tympanitis 10.1 CYP1B1 MYOC
5 opisthorchiasis 10.1 CYP1B1 MYOC
6 red-green color vision defects 10.1 CYP1B1 MYOC
7 yunis-varon syndrome 10.1 MTMR2 SBF2
8 peters anomaly 10.1 CYP1B1 MYOC
9 charcot-marie-tooth disease, axonal, type 2k 10.1 MTMR2 SBF2
10 idiopathic corneal edema 10.1 CYP1B1 MYOC
11 acute poststreptococcal glomerulonephritis 10.0 CYP1B1 MYOC
12 conotruncal heart malformations 10.0 MTM1 MTMR2
13 colorectal cancer 5 10.0 CYP1B1 MYOC
14 conjunctival folliculosis 10.0 CYP1B1 PITX2
15 jph2-related familial hypertrophic cardiomyopathy 9.9 CYP1B1 PITX2
16 deafness, autosomal recessive 91 9.9 CYP1B1 PITX2
17 wernicke-korsakoff syndrome 9.9 MTMR2 SBF1 SBF2
18 myopia 7 9.9 CYP1B1 PITX2
19 lactocele 9.9 CYP1B1 MYOC
20 cataract 9.8
21 weber syndrome 9.8
22 hypertrophy of breast 9.8 CYP1B1 MYOC PITX2
23 muir-torre syndrome 9.8 CYP1B1 MYOC PITX2
24 nevoid hypermelanosis, linear and whorled 9.8 CYP1B1 MYOC PITX2
25 short stature, idiopathic familial 9.7 MTM1 MTMR2 SBF1 SBF2
26 gnathodiaphyseal dysplasia 9.7 MTM1 MTMR2 SBF1 SBF2
27 deafness, autosomal dominant 8/12 9.7 MTM1 MTMR2 SBF1 SBF2
28 adams-oliver syndrome 2 9.7 MTM1 MTMR2 SBF1 SBF2
29 charcot-marie-tooth disease, type 2j 9.7 MTM1 MTMR2 SBF1 SBF2
30 chromophobe renal cell carcinoma 9.7 MTM1 MTMR2 SBF1 SBF2
31 charcot-marie-tooth disease 9.7
32 tooth disease 9.7
33 hereditary xanthinuria 9.1 CYP1B1 MTM1 MTMR2 MYOC PITX2 SBF1

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:

44
id 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:

39
Eye, Brain

Publications for Early-Onset Glaucoma

Articles related to Early-Onset Glaucoma:

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

id 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:

id 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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