GLC1O
MCID: GLC059
MIFTS: 17

Glaucoma 1, Open Angle, 1o (GLC1O) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Glaucoma 1, Open Angle, 1o

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Aliases & Descriptions for Glaucoma 1, Open Angle, 1o:

Name: Glaucoma 1, Open Angle, 1o 52 24 12
Glaucoma 1, Open Angle, O 70 27 68
 
Primary Open Angle Glaucoma 1o 70
Glc1o 70

Classifications:



External Ids:

OMIM52 613100
MedGen37 C2751294
MeSH39 D005902

Summaries for Glaucoma 1, Open Angle, 1o

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UniProtKB/Swiss-Prot:70 Glaucoma 1, open angle, O: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

MalaCards based summary: Glaucoma 1, Open Angle, 1o, also known as glaucoma 1, open angle, o, is related to glaucoma 1, open angle, e, and has symptoms including primary open angle glaucoma An important gene associated with Glaucoma 1, Open Angle, 1o is NTF4 (Neurotrophin 4). Affiliated tissues include eye.

Description from OMIM:52 613100

Related Diseases for Glaucoma 1, Open Angle, 1o

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Diseases in the Open-Angle Glaucoma family:

Glaucoma 1a, Primary Open Angle Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset
Glaucoma 1, Open Angle, P Glaucoma 1, Open Angle, I
glaucoma 1, open angle, 1o Glaucoma, Primary Open Angle, Juvenile-Onset, 2

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

idRelated DiseaseScoreTop Affiliating Genes
1glaucoma 1, open angle, e10.9

Symptoms & Phenotypes for Glaucoma 1, Open Angle, 1o

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Clinical features from OMIM:

613100

Human phenotypes related to Glaucoma 1, Open Angle, 1o:

 64
id Description HPO Frequency HPO Source Accession
1 primary open angle glaucoma64 HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, 1o

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glaucoma 1, Open Angle, 1o

Genetic Tests for Glaucoma 1, Open Angle, 1o

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

id Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, O27
2 Glaucoma 1, Open Angle, 1o24 NTF4

Anatomical Context for Glaucoma 1, Open Angle, 1o

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MalaCards organs/tissues related to Glaucoma 1, Open Angle, 1o:

36
Eye

Publications for Glaucoma 1, Open Angle, 1o

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Variations for Glaucoma 1, Open Angle, 1o

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NTF4NM_ 006179.4(NTF4): c.616C> T (p.Arg206Trp)SNVPathogenicrs121918427GRCh37Chr 19, 49564639: 49564639
2NTF4NM_ 006179.4(NTF4): c.617G> A (p.Arg206Gln)SNVPathogenicrs121918428GRCh37Chr 19, 49564638: 49564638

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

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

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

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

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Sources for Glaucoma 1, Open Angle, 1o

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet