MCID: ERL012
MIFTS: 32

Early-Onset Glaucoma malady

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

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 charcot-marie-tooth disease and charcot-marie-tooth disease type 4b2 with early-onset glaucoma. An important gene associated with Early-Onset Glaucoma is MYOC (myocilin, trabecular meshwork inducible glucocorticoid response), and among its related pathways are Glycerophospholipid biosynthesis and PI Metabolism. The compounds phosphatidylinositol 3-phosphate and phosphatidylinositol have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related mouse phenotype reproductive system.

Aliases & Classifications for Early-Onset Glaucoma

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Early-Onset Glaucoma, Aliases & Descriptions:

Name: Early-Onset Glaucoma 23 62
 
Hereditary Glaucoma 23 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


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/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease30.1MTM1, MTMR2, SBF2
2charcot-marie-tooth disease type 4b2 with early-onset glaucoma10.5
3cataract10.3
4weber syndrome10.3
5tooth disease10.1
6iridogoniodysgenesis, dominant type10.1
7primary congenital glaucoma10.0CYP1B1
8primary angle-closure glaucoma10.0MYOC
9glaucoma 1a, primary open angle10.0MYOC, CYP1B1
10glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.0MYOC, CYP1B1
11peters anomaly10.0PITX2, CYP1B1
12spiradenoma10.0MYOC, PITX2
13charcot-marie-tooth neuropathy type 410.0SBF2, MTMR2
14axenfeld-rieger syndrome, type 310.0CYP1B1, PITX2
15glaucoma 1, open angle, e10.0MYOC, CYP1B1
16open-angle glaucoma10.0CYP1B1, MYOC
17glaucoma, hereditary10.0
18charcot-marie-tooth disease, type 4b110.0SBF2, MTMR2, MTM1
19sensory peripheral neuropathy10.0MTMR2, MTM1
20neuropathy10.0SBF2, MTMR2, MTM1
21myopathy, centronuclear9.9MTM1, MTMR2, SBF2, SBF1
22myopathy9.9MTM1, MTMR2, SBF2, 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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Drug clinical trials:

Search ClinicalTrials for Early-Onset Glaucoma

Search 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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6SBF1, SBF2, MTMR2, MTM1, PITX2

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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Pathways related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MTMR2, MTM1
2
Show member pathways
9.0MTMR2, MTM1

Compounds for genes affiliated with Early-Onset Glaucoma

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Sources:
45Novoseek
See all sources

Compounds related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate459.0MTMR2, MTM1
2phosphatidylinositol458.6MTMR2, MTM1, PITX2
3lipid458.2MTM1, MYOC, CYP1B1, PITX2
4tyrosine457.8PITX2, CYP1B1, MTM1, MTMR2

GO Terms for genes affiliated with Early-Onset Glaucoma

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Cellular components related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

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

Biological processes related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of Rab GTPase activityGO:00323139.5SBF2, SBF1
2protein tetramerizationGO:00512629.2SBF2, MTMR2
3phosphatidylinositol dephosphorylationGO:00468569.1MTMR2, MTM1
4phospholipid metabolic processGO:00066449.0MTMR2, MTM1
5phosphatidylinositol biosynthetic processGO:00066618.7MTMR2, MTM1
6protein dephosphorylationGO:00064708.7SBF1, MTMR2, MTM1

Molecular functions related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rab guanyl-nucleotide exchange factor activityGO:00171129.6SBF1, SBF2
2protein tyrosine/serine/threonine phosphatase activityGO:00081389.4SBF1, MTMR2
3phosphatidylinositol bindingGO:00350919.0MTM1, SBF2
4protein homodimerization activityGO:00428038.9SBF2, MTMR2, PITX2
5protein tyrosine phosphatase activityGO:00047258.7MTMR2, MTM1

Products for genes affiliated with Early-Onset Glaucoma

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Sources for Early-Onset Glaucoma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet