GLC1O
MCID: GLC104
MIFTS: 14

Glaucoma 1, Open Angle, O (GLC1O)

Categories: Eye diseases, 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 58 76 30 6 74
Glaucoma 1, Open Angle, 1o 58 13
Glc1o 58 76
Primary Open Angle Glaucoma 1o 76

Classifications:



External Ids:

OMIM 58 613100
MeSH 45 D005902
MedGen 43 C2751294
SNOMED-CT via HPO 70 77075001
UMLS 74 C2751294

Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 open angle glaucoma 33 HP:0012108

Clinical features from OMIM:

613100

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 30 NTF4

Anatomical Context for Glaucoma 1, Open Angle, O

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

42
Eye

Publications for Glaucoma 1, Open Angle, O

Articles related to Glaucoma 1, Open Angle, O:

# Title Authors Year
1
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
2
No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. ( 20215012 )
2010
3
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. ( 19765683 )
2009

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.263C> T (p.Ala88Val) single nucleotide variant Uncertain significance rs61732310 GRCh37 Chromosome 19, 49564992: 49564992
2 NTF4 NM_006179.4(NTF4): c.263C> T (p.Ala88Val) single nucleotide variant Uncertain significance rs61732310 GRCh38 Chromosome 19, 49061735: 49061735
3 NTF4 NM_006179.4(NTF4): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs121918427 GRCh37 Chromosome 19, 49564639: 49564639
4 NTF4 NM_006179.4(NTF4): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs121918427 GRCh38 Chromosome 19, 49061382: 49061382
5 NTF4 NM_006179.4(NTF4): c.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs121918428 GRCh37 Chromosome 19, 49564638: 49564638
6 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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