GLC1C
MCID: GLC099
MIFTS: 18

Glaucoma 1, Primary Open Angle, C (GLC1C)

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

Aliases & Classifications for Glaucoma 1, Primary Open Angle, C

MalaCards integrated aliases for Glaucoma 1, Primary Open Angle, C:

Name: Glaucoma 1, Primary Open Angle, C 57 29
Glaucoma 1c, Primary Open Angle 57 13
Glaucoma 1, Open Angle, C 70
Glc1c 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
glaucoma 1, primary open angle, c:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 601682
MedGen 41 C1866483
SNOMED-CT via HPO 68 112222000 23986001 263681008
UMLS 70 C1866483

Summaries for Glaucoma 1, Primary Open Angle, C

MalaCards based summary : Glaucoma 1, Primary Open Angle, C, also known as glaucoma 1c, primary open angle, is related to intraocular pressure quantitative trait locus and glaucoma, primary open angle. An important gene associated with Glaucoma 1, Primary Open Angle, C is GLC1C (Glaucoma 1, Open Angle, C). Affiliated tissues include eye, and related phenotypes are glaucoma and ocular hypertension

More information from OMIM: 601682

Related Diseases for Glaucoma 1, Primary Open Angle, C

Symptoms & Phenotypes for Glaucoma 1, Primary Open Angle, C

Human phenotypes related to Glaucoma 1, Primary Open Angle, C:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 ocular hypertension 31 HP:0007906

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
increased intraocular pressure
adult-onset primary open-angle glaucoma (poag)

Clinical features from OMIM®:

601682 (Updated 20-May-2021)

Drugs & Therapeutics for Glaucoma 1, Primary Open Angle, C

Search Clinical Trials , NIH Clinical Center for Glaucoma 1, Primary Open Angle, C

Genetic Tests for Glaucoma 1, Primary Open Angle, C

Genetic tests related to Glaucoma 1, Primary Open Angle, C:

# Genetic test Affiliating Genes
1 Glaucoma 1, Primary Open Angle, C 29

Anatomical Context for Glaucoma 1, Primary Open Angle, C

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

40
Eye

Publications for Glaucoma 1, Primary Open Angle, C

Articles related to Glaucoma 1, Primary Open Angle, C:

(show all 12)
# Title Authors PMID Year
1
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. 61 57
15032973 2004
2
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. 57 61
11436127 2001
3
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. 57 61
9012402 1997
4
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. 57
9004141 1996
5
Interleukin-20 receptor expression in the trabecular meshwork and its implication in glaucoma. 61
24455976 2014
6
Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus. 61
17210862 2007
7
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. 61
16431959 2006
8
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. 61
15823925 2005
9
[Genetic ground of primary open angle glaucoma]. 61
15646497 2004
10
Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. 61
10873381 2000
11
[Genetic studies on primary open angle glaucoma]. 61
10878949 2000
12
Recent advances in molecular genetics of glaucomas. 61
9300658 1997

Variations for Glaucoma 1, Primary Open Angle, C

Expression for Glaucoma 1, Primary Open Angle, C

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

Pathways for Glaucoma 1, Primary Open Angle, C

GO Terms for Glaucoma 1, Primary Open Angle, C

Sources for Glaucoma 1, Primary Open Angle, C

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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