MCID: ERL012
MIFTS: 26

Early-Onset Glaucoma malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Early-Onset Glaucoma

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Aliases & Descriptions for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 23 65
 
Hereditary Glaucoma 23


Classifications:



Summaries for Early-Onset Glaucoma

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Genetics Home Reference:23 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 cataract and weber syndrome. An important gene associated with Early-Onset Glaucoma is MTMR2 (Myotubularin Related Protein 2). Affiliated tissues include eye and brain, and related mouse phenotype reproductive system.

Related Diseases for Early-Onset Glaucoma

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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

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1cataract10.2
2weber syndrome10.2
3singleton-merten syndrome 110.1
4charcot-marie-tooth disease10.1
5tooth disease10.1
6iridogoniodysgenesis, dominant type10.1
7glaucoma 1a, primary open angle10.0CYP1B1, MYOC
8acute contagious conjunctivitis10.0CYP1B1, MYOC
9iridogoniodysgenesis, type 210.0MYOC, PITX2
10primary familial brain calcification10.0CYP1B1, MYOC
11glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.0CYP1B1, MYOC
12corneal neovascularization10.0CYP1B1, MYOC
13charcot-marie-tooth disease, type 4b210.0MTM1, SBF2
14primary bacterial infectious disease10.0CYP1B1, MYOC
15axenfeld-rieger syndrome, type 39.9CYP1B1, PITX2
16dejerine-sottas disease9.9MTMR2, SBF2
17corneal dystrophy9.9CYP1B1, PITX2
18ophthalmoplegia9.9CYP1B1, MYOC
19glaucoma 1, open angle, e9.8CYP1B1, MYOC
20charcot-marie-tooth disease, type 4b19.8MTM1, MTMR2, SBF2
21charcot-marie-tooth neuropathy type 4j9.8MTMR2, SBF1, SBF2
22glandular cystitis9.8CYP1B1, MYOC, PITX2
23peters anomaly9.8CYP1B1, MYOC, PITX2
24tooth erosion9.8MTMR2, SBF1, SBF2
25aniridia9.8CYP1B1, PITX2
26lethal congenital contracture syndrome 59.7MTM1, MTMR2, SBF1, SBF2
27childhood type dermatomyositis9.6MTM1, MTMR2, SBF1, SBF2
28essential pentosuria9.0CYP1B1, MTM1, MTMR2, MYOC, PITX2, SBF1

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



Diseases related to early-onset glaucoma

Symptoms for Early-Onset Glaucoma

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Drugs & Therapeutics for Early-Onset Glaucoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Early-Onset Glaucoma

Genetic Tests for Early-Onset Glaucoma

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Anatomical Context for Early-Onset Glaucoma

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MalaCards organs/tissues related to Early-Onset Glaucoma:

33
Eye, Brain

Animal Models for Early-Onset Glaucoma or affiliated genes

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MGI Mouse Phenotypes related to Early-Onset Glaucoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9MTM1, MTMR2, PITX2, SBF1, SBF2

Publications for Early-Onset Glaucoma

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Articles related to Early-Onset Glaucoma:

idTitleAuthorsYear
1
Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome. (24921174)
2014
2
Determinants of severity at presentation among young patients with early onset glaucoma. (24212304)
2013
3
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. (21282566)
2011
4
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. (19429583)
2009
5
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. (16768189)
2006
6
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
7
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (11774072)
2002
8
Trabeculotomy-trabeculectomy for early-onset glaucoma. (10768320)
2000
9
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. (10442913)
1999
10
The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber syndrome. (10532726)
1998

Variations for Early-Onset Glaucoma

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Expression for genes affiliated with Early-Onset Glaucoma

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

Pathways for genes affiliated with Early-Onset Glaucoma

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GO Terms for genes affiliated with Early-Onset Glaucoma

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

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00057749.3MTMR2, SBF2

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:004685610.1MTM1, MTMR2
2phosphatidylinositol biosynthetic processGO:000666110.0MTM1, MTMR2
3peptidyl-tyrosine dephosphorylationGO:00353359.7MTM1, MTMR2
4regulation of GTPase activityGO:00430879.6SBF1, SBF2
5protein tetramerizationGO:00512629.6MTMR2, SBF2
6protein dephosphorylationGO:00064708.9MTM1, MTMR2, SBF1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3,5-bisphosphate 3-phosphatase activityGO:005262910.3MTM1, MTMR2
2phosphatidylinositol-3-phosphatase activityGO:000443810.2MTM1, MTMR2
3phosphatase regulator activityGO:00192089.7SBF1, SBF2
4protein tyrosine phosphatase activityGO:00047259.7MTM1, MTMR2
5phosphatidylinositol bindingGO:00350919.7MTM1, SBF2
6protein tyrosine/serine/threonine phosphatase activityGO:00081389.5MTMR2, SBF1
7phosphatase activityGO:00167919.4MTM1, MTMR2
8Rab guanyl-nucleotide exchange factor activityGO:00171129.2SBF1, SBF2

Sources for Early-Onset Glaucoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet