MCID: ERL012
MIFTS: 31

Early-Onset Glaucoma malady

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

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21Genetics Home Reference, 33MalaCards
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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: Early-Onset Glaucoma, also known as hereditary glaucoma, is related to glaucoma and charcot-marie-tooth disease. 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 related mouse phenotype reproductive system.

Aliases & Classifications for Early-Onset Glaucoma

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21Genetics Home Reference, 49Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary glaucoma:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

early-onset glaucoma 21
hereditary glaucoma 21 49


Related Diseases for Early-Onset Glaucoma

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17GeneCards, 18GeneDecks
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Diseases in the Glaucoma family:

Juvenile Glaucoma Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Congenital
Glaucoma, Hereditary Glaucoma, Hereditary Adult Type 1a
Glaucoma, Hereditary Juvenile Type 1b Cyp1b1-Related Primary Congenital Glaucoma
Ltbp2-Related Primary Congenital Glaucoma early-onset glaucoma
Glaucoma 3, Primary Congenital, D Glaucoma 3, Primary Congenital, C

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

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma30.7SBF2, MTMR2, MYOC, CYP1B1, PITX2
2charcot-marie-tooth disease30.0MTM1, MTMR2, SBF2
3charcot-marie-tooth disease type 4b2 with early-onset glaucoma10.5
4cataract10.3
5sturge-weber syndrome10.3
6weber syndrome10.3
7tooth disease10.1
8iridogoniodysgenesis, dominant type10.1
9primary congenital glaucoma10.1CYP1B1
10primary angle-closure glaucoma10.1MYOC
11primary open angle glaucoma juvenile onset 110.0MYOC, CYP1B1
12glaucoma 3, primary congenital, d10.0MYOC, CYP1B1
13peters plus syndrome10.0PITX2, CYP1B1
14eye disease10.0MYOC, PITX2
15charcot-marie-tooth neuropathy type 410.0SBF2, MTMR2
16axenfeld-rieger syndrome10.0CYP1B1, PITX2
17primary open angle glaucoma10.0MYOC, CYP1B1
18open-angle glaucoma10.0CYP1B1, MYOC
19glaucoma, hereditary10.0
20charcot-marie-tooth disease type 4b19.9SBF2, MTMR2, MTM1
21sensory peripheral neuropathy9.9MTMR2, MTM1
22neuropathy9.9SBF2, MTMR2, MTM1
23centronuclear myopathy9.9MTM1, MTMR2, SBF2, SBF1
24myopathy9.9MTM1, 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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Early-Onset Glaucoma:

33
Eye

Animal Models for Early-Onset Glaucoma or affiliated genes

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37MGI
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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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52PubMed
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Articles related to Early-Onset Glaucoma:

idTitleAuthorsYear
1
Determinants of severity at presentation among young patients with early onset glaucoma. (24212304)
2013
2
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. (21282566)
2011
3
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. (19429583)
2009
4
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. (16768189)
2006
5
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
6
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (11774072)
2002
7
Trabeculotomy-trabeculectomy for early-onset glaucoma. (10768320)
2000
8
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. (10442913)
1999
9
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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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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45Novoseek
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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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16Gene Ontology
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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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Sources for Early-Onset Glaucoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet