GLC1M
MCID: GLC051
MIFTS: 17

Glaucoma 1, Open Angle, M (GLC1M)

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

Aliases & Classifications for Glaucoma 1, Open Angle, M

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

Name: Glaucoma 1, Open Angle, M 57 29 13 70
Glc1m 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age of onset/diagnosis 12-35 years


HPO:

31
glaucoma 1, open angle, m:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 610535
MedGen 41 C1864653
UMLS 70 C1864653

Summaries for Glaucoma 1, Open Angle, M

MalaCards based summary : Glaucoma 1, Open Angle, M, also known as glc1m, is related to glaucoma, primary open angle and intraocular pressure quantitative trait locus. An important gene associated with Glaucoma 1, Open Angle, M is GLC1M (Glaucoma 1, Open Angle, M (Juvenile-Onset)). Related phenotypes are constriction of peripheral visual field and open angle glaucoma

More information from OMIM: 610535

Related Diseases for Glaucoma 1, Open Angle, M

Symptoms & Phenotypes for Glaucoma 1, Open Angle, M

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

31
# Description HPO Frequency HPO Source Accession
1 constriction of peripheral visual field 31 HP:0001133
2 open angle glaucoma 31 HP:0012108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
visual field loss
anterior chamber angle open with grade iii-iv gonioscopy
bilateral intraocular pressures greater than or equal to 22 mmhg
vertical cup-to-disc ratio greater than or equal to 0.7
disc hemorrhage
more

Clinical features from OMIM®:

610535 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glaucoma 1, Open Angle, M

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

Genetic Tests for Glaucoma 1, Open Angle, M

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, M 29

Anatomical Context for Glaucoma 1, Open Angle, M

Publications for Glaucoma 1, Open Angle, M

Articles related to Glaucoma 1, Open Angle, M:

# Title Authors PMID Year
1
Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. 57 61
17563728 2007
2
A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q. 57
16518310 2006
3
Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma. 57
15547491 2004
4
Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses. 61
21042566 2010

Variations for Glaucoma 1, Open Angle, M

Expression for Glaucoma 1, Open Angle, M

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

Pathways for Glaucoma 1, Open Angle, M

GO Terms for Glaucoma 1, Open Angle, M

Sources for Glaucoma 1, Open Angle, M

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
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