MCID: ERL012
MIFTS: 32

Early-Onset Glaucoma malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Early-Onset Glaucoma

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Genetics Home Reference:21 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 21 62
 
Hereditary Glaucoma 21 62


Classifications:

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


Related Diseases for Early-Onset Glaucoma

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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:

32
Eye, Brain

Animal Models for Early-Onset Glaucoma or affiliated genes

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MGI Mouse Phenotypes related to Early-Onset Glaucoma:

36
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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Expression patterns in normal tissues for genes affiliated with Early-Onset Glaucoma

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:
44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate449.0MTMR2, MTM1
2phosphatidylinositol448.6MTMR2, MTM1, PITX2
3lipid448.2MTM1, MYOC, CYP1B1, PITX2
4tyrosine447.8PITX2, 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:0057749.3SBF2, MTMR2

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

idNameGO IDScoreTop Affiliating Genes
1regulation of Rab GTPase activityGO:0323139.5SBF2, SBF1
2protein tetramerizationGO:0512629.2SBF2, MTMR2
3phosphatidylinositol dephosphorylationGO:0468569.1MTMR2, MTM1
4phospholipid metabolic processGO:0066449.0MTMR2, MTM1
5phosphatidylinositol biosynthetic processGO:0066618.7MTMR2, MTM1
6protein dephosphorylationGO:0064708.7SBF1, MTMR2, MTM1

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

idNameGO IDScoreTop Affiliating Genes
1Rab guanyl-nucleotide exchange factor activityGO:0171129.6SBF1, SBF2
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.4SBF1, MTMR2
3phosphatidylinositol bindingGO:0350919.0MTM1, SBF2
4protein homodimerization activityGO:0428038.9SBF2, MTMR2, PITX2
5protein tyrosine phosphatase activityGO:0047258.7MTMR2, MTM1

Products for genes affiliated with Early-Onset Glaucoma

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  • Antibodies
  • Proteins
  • Lysates

Sources for Early-Onset Glaucoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet