GLC1O
MCID: GLC104
MIFTS: 16

Glaucoma 1, Open Angle, O (GLC1O)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare 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 72 29 6 70
Glaucoma 1, Open Angle, 1o 57 13
Glc1o 57 72
Primary Open Angle Glaucoma 1o 72

Classifications:



External Ids:

OMIM® 57 613100
MeSH 44 D005902
MedGen 41 C2751294
SNOMED-CT via HPO 68 77075001
UMLS 70 C2751294

Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : 72 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.

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 open angle glaucoma 31 HP:0012108

Clinical features from OMIM®:

613100 (Updated 20-May-2021)

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:

40
Eye

Publications for Glaucoma 1, Open Angle, O

Articles related to Glaucoma 1, Open Angle, O:

# Title Authors PMID Year
1
No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. 6 57
20215012 2010
2
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. 57 6
19765683 2009

Variations for Glaucoma 1, Open Angle, O

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NTF4 NM_006179.4(NTF4):c.617G>A (p.Arg206Gln) SNV Pathogenic 14019 rs121918428 GRCh37: 19:49564638-49564638
GRCh38: 19:49061381-49061381
2 NTF4 NM_006179.4(NTF4):c.616C>T (p.Arg206Trp) SNV Conflicting interpretations of pathogenicity 14018 rs121918427 GRCh37: 19:49564639-49564639
GRCh38: 19:49061382-49061382
3 NTF4 NM_006179.4(NTF4):c.263C>T (p.Ala88Val) SNV Uncertain significance 14017 rs61732310 GRCh37: 19:49564992-49564992
GRCh38: 19:49061735-49061735

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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