MCID: GLC104
MIFTS: 12

Glaucoma 1, Open Angle, O

Categories: Genetic diseases

Aliases & Classifications for Glaucoma 1, Open Angle, O

MalaCards integrated aliases for Glaucoma 1, Open Angle, O:

Name: Glaucoma 1, Open Angle, O 57 75 29 6 73
Glaucoma 1, Open Angle, 1o 57 13
Glc1o 57 75
Primary Open Angle Glaucoma 1o 75

Classifications:



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OMIM 57 613100
MedGen 42 C2751294
MeSH 44 D005902
SNOMED-CT via HPO 69 77075001
UMLS 73 C2751294

Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : 75 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, O, is also known as glaucoma 1, open angle, 1o. An important gene associated with Glaucoma 1, Open Angle, O is NTF4 (Neurotrophin 4). Affiliated tissues include eye, and related phenotype is open angle glaucoma.

Description from OMIM: 613100

Related Diseases for Glaucoma 1, Open Angle, O

Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

Clinical features from OMIM:

613100

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

32
# Description HPO Frequency HPO Source Accession
1 open angle glaucoma 32 HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, O

Search Clinical Trials , NIH Clinical Center for Glaucoma 1, Open Angle, O

Genetic Tests for Glaucoma 1, Open Angle, O

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, O 29 NTF4

Anatomical Context for Glaucoma 1, Open Angle, O

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

41
Eye

Publications for Glaucoma 1, Open Angle, O

Variations for Glaucoma 1, Open Angle, O

ClinVar genetic disease variations for Glaucoma 1, Open Angle, O:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTF4 NM_006179.4(NTF4): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs121918427 GRCh37 Chromosome 19, 49564639: 49564639
2 NTF4 NM_006179.4(NTF4): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs121918427 GRCh38 Chromosome 19, 49061382: 49061382
3 NTF4 NM_006179.4(NTF4): c.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs121918428 GRCh37 Chromosome 19, 49564638: 49564638
4 NTF4 NM_006179.4(NTF4): c.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs121918428 GRCh38 Chromosome 19, 49061381: 49061381

Expression for Glaucoma 1, Open Angle, O

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

Pathways for Glaucoma 1, Open Angle, O

GO Terms for Glaucoma 1, Open Angle, O

Sources for Glaucoma 1, Open Angle, O

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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