MCID: GLC062
MIFTS: 33

Glaucoma 1, Open Angle, E malady

Genetic diseases (common) category

Summaries for Glaucoma 1, Open Angle, E

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OMIM:45 Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the... (137760) more...

MalaCards based summary: Glaucoma 1, Open Angle, E, also known as primary open angle glaucoma, is related to open-angle glaucoma and primary congenital glaucoma, and has symptoms including autosomal dominant inheritance, myopia and primary open angle glaucoma. An important gene associated with Glaucoma 1, Open Angle, E is OPTN (optineurin). The compound dexamethasone have been mentioned in the context of this disorder.

Aliases & Classifications for Glaucoma 1, Open Angle, E

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Glaucoma 1, Open Angle, E, Aliases & Descriptions:

Name: Glaucoma 1, Open Angle, E 45 10 30
Primary Open Angle Glaucoma 30 9 20 11 43 22
 
Glaucoma, Primary Open Angle 45 60
Chronic Simple Glaucoma 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 137760
Disease Ontology9 DOID:1070
SNOMED-CT55 77075001, 155122001
NCIt38 C35394
ICD9CM27 365.11

Related Diseases for Glaucoma 1, Open Angle, E

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Diseases in the Glaucoma 1, Open Angle, G family:

Glaucoma 1, Open Angle, F glaucoma 1, open angle, e

Diseases related to Glaucoma 1, Open Angle, E via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1open-angle glaucoma30.8OPTN, WDR36, CYP1B1
2primary congenital glaucoma30.6CYP1B1
3blindness30.4OPTN, WDR36
4retinitis11.0
5primary angle-closure glaucoma10.9
6myopia10.8
7endotheliitis10.7
8glaucoma 1a, primary open angle10.7
9glaucoma, primary open angle, juvenile-onset, 210.6
10choroiditis10.5
11dementia10.5
12glaucoma 1, open angle, p10.5
13retinal vein occlusion10.5
14ocular hypertension10.5
15kearns-sayre syndrome10.5
16glaucomatocyclitic crisis10.5
17cerebritis10.5
18neuropathy10.5
19ocular hypotension10.5
20senile cataract10.5
21glaucoma, normal tension10.3
22glaucoma 1, open angle, g10.3
23glaucoma 1, open angle, m10.3
24exfoliation syndrome10.3
25migraine10.3
26pigment dispersion syndrome10.3
27glaucoma 1, open angle, 1o10.3
28cataract10.3
29keratoconus10.3
30vascular dementia10.3
31neovascular glaucoma10.3
32juvenile glaucoma10.3
33central retinal vein occlusion10.3
34degenerative myopia10.3
35conjunctivochalasis10.3
36cycloplegia10.3
37low tension glaucoma10.3
38exudative vitreoretinopathy10.3
39osteogenesis imperfecta10.3
40astigmatism10.3
41mitochondrial encephalomyopathy10.3
42pancreatitis10.3
43pneumonia10.3
44refractive error10.3
45steroid-induced glaucoma10.3
46encephalomyopathy10.3
47autonomic dysfunction10.3
48iridocyclitis10.2
49glaucoma 3a, primary open angle, congenital, juvenile, or adult onset9.8OPTN, CYP1B1

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, E:



Diseases related to glaucoma 1, open angle, e

Symptoms for Glaucoma 1, Open Angle, E

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Symptoms by clinical synopsis from OMIM:

137760

Clinical features from OMIM:

137760

HPO human phenotypes related to Glaucoma 1, Open Angle, E:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 myopia HP:0000545
3 primary open angle glaucoma HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, E

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Drug clinical trials:

Search ClinicalTrials for Glaucoma 1, Open Angle, E

Search NIH Clinical Center for Glaucoma 1, Open Angle, E

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Glaucoma 1, Open Angle, E cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Glaucoma 1, Open Angle, E:
Renexus
Embryonic/Adult Cultured Cells Related to Glaucoma 1, Open Angle, E:
Human retinal stem cells secreting CNTF, PMIDs: 16805711, 17508034, 16505355, 23049090, 15684670, 12581701, 15223826, 18830926

Genetic Tests for Glaucoma 1, Open Angle, E

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Genetic tests related to Glaucoma 1, Open Angle, E:

id Genetic test Affiliating Genes
1 Primary Open Angle Glaucoma (adult Onset)20 22 WDR36
2 Primary Open Angle Glaucoma22

Anatomical Context for Glaucoma 1, Open Angle, E

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Animal Models for Glaucoma 1, Open Angle, E or affiliated genes

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Publications for Glaucoma 1, Open Angle, E

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Variations for Glaucoma 1, Open Angle, E

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UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, E:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1CYP1B1p.Gly61GluVAR_001244rs28936700
2CYP1B1p.Trp57CysVAR_008350
3CYP1B1p.Glu387LysVAR_008352rs55989760
4CYP1B1p.Tyr81AsnVAR_028736rs9282671
5CYP1B1p.Ser28TrpVAR_054227
6CYP1B1p.Arg145TrpVAR_054235
7CYP1B1p.Glu229LysVAR_054243rs57865060
8CYP1B1p.Gly232ArgVAR_054244
9CYP1B1p.Leu345PheVAR_054251
10CYP1B1p.Val409PheVAR_054258
11CYP1B1p.Asn423TyrVAR_054260
12CYP1B1p.Arg523ThrVAR_054267
13CYP1B1p.Asp530GlyVAR_054268
14OPTNp.His26AspVAR_021537
15OPTNp.Glu50LysVAR_021538rs28939688
16OPTNp.Glu103AspVAR_021540
17OPTNp.His486ArgVAR_021546

Clinvar genetic disease variations for Glaucoma 1, Open Angle, E:

6
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1484G> A (p.Arg495Gln)single nucleotide variantLikely pathogenicrs137854858GRCh37Chr 14, 75017969: 75017969
2LTBP2NM_000428.2(LTBP2): c.3571G> A (p.Glu1191Lys)single nucleotide variantLikely pathogenicrs137854862GRCh37Chr 14, 74975388: 74975388
3LTBP2NM_000428.2(LTBP2): c.4250A> G (p.Gln1417Arg)single nucleotide variantLikely pathogenicrs137854863GRCh37Chr 14, 74971805: 74971805
4LTBP2NM_000428.2(LTBP2): c.4912G> A (p.Val1638Met)single nucleotide variantLikely pathogenicrs137854860GRCh37Chr 14, 74969614: 74969614

Expression for genes affiliated with Glaucoma 1, Open Angle, E

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Search GEO for disease gene expression data for Glaucoma 1, Open Angle, E.

Pathways for genes affiliated with Glaucoma 1, Open Angle, E

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Compounds for genes affiliated with Glaucoma 1, Open Angle, E

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Sources:
43Novoseek, 49PharmGKB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Glaucoma 1, Open Angle, E according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dexamethasone43 49 28 1212.0OPTN, CYP1B1

GO Terms for genes affiliated with Glaucoma 1, Open Angle, E

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Biological processes related to Glaucoma 1, Open Angle, E according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.1WDR36, CYP1B1

Products for genes affiliated with Glaucoma 1, Open Angle, E

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glaucoma 1, Open Angle, E

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet