MCID: ERL012
MIFTS: 24

Early-Onset Glaucoma malady

Eye, Fetal, Ear categories

Summaries for Early-Onset Glaucoma

Sources:
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 charcot-marie-tooth disease type 4b2 with early-onset glaucoma and cataract-glaucoma. 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 brain, and related mouse phenotype reproductive system.

Aliases & Classifications for Early-Onset Glaucoma

Sources:
21Genetics Home Reference, 49Orphanet
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Classifications:

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


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

Sources:
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

Drugs & Therapeutics for Early-Onset Glaucoma

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Early-Onset Glaucoma

Sources:
33MalaCards
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MalaCards organs/tissues related to Early-Onset Glaucoma:

33
Brain

Animal Models for Early-Onset Glaucoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Early-Onset Glaucoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2SBF2, SBF1, MTMR2, MTM1, PITX2

Publications for Early-Onset Glaucoma

Sources:
51PubMed
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Articles related to Early-Onset Glaucoma:

(show all 15)
idTitleAuthorsYear
1
Early onset and rapid progression of glaucoma in a neonate with Sturge-Weber syndrome. (23539944)
2013
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
Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci. (19147912)
2008
6
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. (16768189)
2006
7
CYP1B1 mutations in French patients with early-onset primary open- angle glaucoma. (15342693)
2004
8
A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. (15108121)
2004
9
Myocilin mutation 1109 C>T (Pro 370 Leu) is the most common gene defect causing early onset primary open angle glaucoma. (14601861)
2003
10
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
11
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (11774072)
2002
12
Trabeculotomy-trabeculectomy for early-onset glaucoma. (10768320)
2000
13
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. (10442913)
1999
14
The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber syndrome. (10532726)
1998
15
Novel mutations in the TIGR gene in early and late onset open angle glaucoma. (9521427)
1998

Genetic Variations for Early-Onset Glaucoma

Expression for genes affiliated with Early-Onset Glaucoma

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

Sources:
54Reactome
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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

Sources:
45Novoseek
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Compounds related to Early-Onset Glaucoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate459.5MTMR2, MTM1
2tyrosine458.3CYP1B1, MTMR2, MTM1, PITX2
3lipid457.8PITX2, MTM1, MYOC, CYP1B1

GO Terms for genes affiliated with Early-Onset Glaucoma

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Early-Onset Glaucoma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet