MCID: GLC059
MIFTS: 23

Glaucoma 1, Open Angle, 1o 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 49 11 22
Glaucoma 1, Open Angle, O 67 24 65
 
Primary Open Angle Glaucoma 1o 67
Glc1o 67

Classifications:



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OMIM49 613100
MedGen34 C2751294
MeSH36 D005902
UMLS65 C2751294

Summaries for Glaucoma 1, Open Angle, 1o

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UniProtKB/Swiss-Prot:67 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 spastic paraplegia 12, autosomal dominant, 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:49 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, e10.4
2spastic paraplegia 12, autosomal dominant9.7NT5E, NTF4

Symptoms for Glaucoma 1, Open Angle, 1o

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Clinical features from OMIM:

613100

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

id Description Frequency HPO Source Accession
1 primary open angle glaucoma 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, 1o22 NTF4

Anatomical Context for Glaucoma 1, Open Angle, 1o

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

33
Eye

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

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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.263C> T (p.Ala88Val)single nucleotide variantPathogenicrs61732310GRCh37Chr 19, 49564992: 49564992
2NTF4NM_006179.4(NTF4): c.616C> T (p.Arg206Trp)single nucleotide variantPathogenicrs121918427GRCh37Chr 19, 49564639: 49564639
3NTF4NM_006179.4(NTF4): c.617G> A (p.Arg206Gln)single nucleotide variantPathogenicrs121918428GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet