GLC1G
MCID: GLC060
MIFTS: 19

Glaucoma 1, Open Angle, G (GLC1G)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glaucoma 1, Open Angle, G

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

Name: Glaucoma 1, Open Angle, G 57 72 29 13 6 70
Glc1g 57 72
Primary Open Angle Glaucoma 1g 72

Classifications:



External Ids:

OMIM® 57 609887
MeSH 44 D005902
MedGen 41 C1835933
SNOMED-CT via HPO 68 77075001
UMLS 70 C1835933

Summaries for Glaucoma 1, Open Angle, G

UniProtKB/Swiss-Prot : 72 Glaucoma 1, open angle, G: 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, G, is also known as glc1g. An important gene associated with Glaucoma 1, Open Angle, G is WDR36 (WD Repeat Domain 36). Affiliated tissues include eye, and related phenotype is open angle glaucoma.

More information from OMIM: 609887

Related Diseases for Glaucoma 1, Open Angle, G

Symptoms & Phenotypes for Glaucoma 1, Open Angle, G

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

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

Clinical features from OMIM®:

609887 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glaucoma 1, Open Angle, G

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

Genetic Tests for Glaucoma 1, Open Angle, G

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, G 29 WDR36

Anatomical Context for Glaucoma 1, Open Angle, G

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

40
Eye

Publications for Glaucoma 1, Open Angle, G

Articles related to Glaucoma 1, Open Angle, G:

# Title Authors PMID Year
1
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. 61 57 6
15677485 2005
2
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. 57
20813748 2011
3
Profiling of WDR36 missense variants in German patients with glaucoma. 57
18172102 2008
4
No association between variations in the WDR36 gene and primary open-angle glaucoma. 57
17353431 2007
5
Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. 61
23599335 2013
6
Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. 61
19150991 2009
7
The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. 61
18469340 2008
8
The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region. 61
16966629 2006
9
Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans. 61
16877390 2006

Variations for Glaucoma 1, Open Angle, G

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR36 NM_139281.2(WDR36):c.1064A>G (p.Asn355Ser) SNV Pathogenic 1581 rs118204022 GRCh37: 5:110440041-110440041
GRCh38: 5:111104342-111104342
2 WDR36 NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) SNV Pathogenic 1583 rs116529882 GRCh37: 5:110445979-110445979
GRCh38: 5:111110280-111110280
3 WDR36 NM_139281.3(WDR36):c.906+1G>A SNV Pathogenic 1032439 GRCh37: 5:110440052-110440052
GRCh38: 5:111104353-111104353
4 WDR36 NM_139281.2(WDR36):c.1973A>G (p.Asp658Gly) SNV Uncertain significance 1580 rs34595252 GRCh37: 5:110454719-110454719
GRCh38: 5:111119021-111119021
5 WDR36 NM_139281.2(WDR36):c.1345G>A (p.Ala449Thr) SNV Uncertain significance 1582 rs35703638 GRCh37: 5:110441839-110441839
GRCh38: 5:111106140-111106140

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, G:

72
# Symbol AA change Variation ID SNP ID
1 WDR36 p.Asn355Ser VAR_025966 rs118204022
2 WDR36 p.Arg529Gln VAR_025968 rs116529882

Expression for Glaucoma 1, Open Angle, G

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

Pathways for Glaucoma 1, Open Angle, G

GO Terms for Glaucoma 1, Open Angle, G

Sources for Glaucoma 1, Open Angle, G

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....