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

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

Name: Glaucoma 1, Open Angle, 1o 54 24 13
Glaucoma 1, Open Angle, O 66 29 69
Primary Open Angle Glaucoma 1o 66
Glc1o 66

Classifications:



External Ids:

OMIM 54 613100
MedGen 40 C2751294
MeSH 42 D005902

Summaries for Glaucoma 1, Open Angle, 1o

UniProtKB/Swiss-Prot : 66 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: 613100

Related Diseases for Glaucoma 1, Open Angle, 1o

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:

id Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, e 10.9

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

Clinical features from OMIM:

613100

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

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

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

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

Genetic Tests for Glaucoma 1, Open Angle, 1o

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

id Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, O 29
2 Glaucoma 1, Open Angle, 1o 24 NTF4

Anatomical Context for Glaucoma 1, Open Angle, 1o

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

39
Eye

Publications for Glaucoma 1, Open Angle, 1o

Variations for Glaucoma 1, Open Angle, 1o

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

6
id 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.617G> A (p.Arg206Gln) single nucleotide variant Pathogenic rs121918428 GRCh37 Chromosome 19, 49564638: 49564638

Expression for Glaucoma 1, Open Angle, 1o

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

Pathways for Glaucoma 1, Open Angle, 1o

GO Terms for Glaucoma 1, Open Angle, 1o

Sources for Glaucoma 1, Open Angle, 1o

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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