MCID: ERL012
MIFTS: 26

Early-Onset Glaucoma malady

Eye diseases, Fetal diseases, Ear diseases categories

Summaries for Early-Onset Glaucoma

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21Genetics Home Reference, 32MalaCards
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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 SBF1 (SET binding factor 1), and among its related pathways are PI Metabolism and Synthesis of PIPs at the early endosome membrane. The compounds phosphatidylinositol 3-phosphate and tyrosine 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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21Genetics Home Reference, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary glaucoma:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

early-onset glaucoma 21
hereditary glaucoma 21 48


Related Diseases for Early-Onset Glaucoma

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Early-Onset Glaucoma:



Diseases related to early-onset glaucoma

Clinical Features for Early-Onset Glaucoma

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Drugs & Therapeutics for Early-Onset Glaucoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Early-Onset Glaucoma

Drug clinical trials:

Search ClinicalTrials for Early-Onset Glaucoma

Search NIH Clinical Center for Early-Onset Glaucoma

Search CenterWatch for Early-Onset Glaucoma

Genetic Tests for Early-Onset Glaucoma

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Anatomical Context for Early-Onset Glaucoma

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Early-Onset Glaucoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2SBF2, SBF1, MTMR2, MTM1, PITX2

Publications for Early-Onset Glaucoma

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Genetic Variations for Early-Onset Glaucoma

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Expression for genes affiliated with Early-Onset Glaucoma

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Sources:
1BioGPS, 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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53Reactome
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Pathways related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6MTMR2, MTM1
2
Hide members
9.6MTMR2, MTM1

Compounds for genes affiliated with Early-Onset Glaucoma

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44Novoseek
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Compounds related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate449.5MTMR2, MTM1
2tyrosine448.3CYP1B1, MTMR2, MTM1, PITX2
3lipid447.8PITX2, MTM1, MYOC, CYP1B1

GO Terms for genes affiliated with Early-Onset Glaucoma

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Sources:
16Gene Ontology
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Cellular components related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:0057749.5SBF2, MTMR2

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:0066619.6MTMR2, MTM1
2phosphatidylinositol dephosphorylationGO:0468569.5MTMR2, MTM1
3protein dephosphorylationGO:0064709.2SBF1, MTMR2, MTM1
4protein tetramerizationGO:0512629.2SBF2, MTMR2

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.6SBF1, MTMR2
2Rab guanyl-nucleotide exchange factor activityGO:0171129.6SBF2, SBF1
3phosphatidylinositol bindingGO:0350919.4MTM1, SBF2
4protein tyrosine phosphatase activityGO:0047259.3MTMR2, MTM1
5protein homodimerization activityGO:0428039.0SBF2, MTMR2, PITX2

Products for genes affiliated with Early-Onset Glaucoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet