GLCC
MCID: GLC114
MIFTS: 18

Glaucoma, Primary Closed-Angle (GLCC)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Glaucoma, Primary Closed-Angle

MalaCards integrated aliases for Glaucoma, Primary Closed-Angle:

Name: Glaucoma, Primary Closed-Angle 56 6
Glcc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
iridocorneal angle changes are relatively late onset (fourth to fifth decade)


Classifications:



External Ids:

OMIM 56 618880

Summaries for Glaucoma, Primary Closed-Angle

OMIM : 56 Primary closed-angle glaucoma (GLCC) is characterized by age-related variation in the degree of iridocorneal angle closure and its sequelae, with patients in the first 3 decades of life showing a normal eye exam, whereas older patients progressively show more evidence of angle closure and glaucomatous damage, including optic nerve head changes and visual field defects (Suri et al., 2018). (618880)

MalaCards based summary : Glaucoma, Primary Closed-Angle, also known as glcc, is related to intraocular pressure quantitative trait locus. An important gene associated with Glaucoma, Primary Closed-Angle is COL18A1 (Collagen Type XVIII Alpha 1 Chain). The drug Bilirubin has been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone marrow.

Related Diseases for Glaucoma, Primary Closed-Angle

Diseases in the Acute Closed-Angle Glaucoma family:

Glaucoma, Primary Closed-Angle Chronic Closed-Angle Glaucoma

Diseases related to Glaucoma, Primary Closed-Angle via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intraocular pressure quantitative trait locus 10.1

Symptoms & Phenotypes for Glaucoma, Primary Closed-Angle

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
elevated intraocular pressure
visual field defects
peripheral anterior synechiae
glaucomatous optic nerve head changes
trabecular membrane not visible in at least 180 degrees of angle circumference

Clinical features from OMIM:

618880

Drugs & Therapeutics for Glaucoma, Primary Closed-Angle

Drugs for Glaucoma, Primary Closed-Angle (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bilirubin 69853-43-6, 635-65-4 21252250 5280352

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced Serum Bilirubin Levels in Patients With Normal-tension Glaucoma Completed NCT03387306

Search NIH Clinical Center for Glaucoma, Primary Closed-Angle

Genetic Tests for Glaucoma, Primary Closed-Angle

Anatomical Context for Glaucoma, Primary Closed-Angle

MalaCards organs/tissues related to Glaucoma, Primary Closed-Angle:

40
Eye, Liver, Bone Marrow, Bone

Publications for Glaucoma, Primary Closed-Angle

Articles related to Glaucoma, Primary Closed-Angle:

(show all 18)
# Title Authors PMID Year
1
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. 56 6
30007336 2018
2
Prediagnostic dietary intakes of vitamin A and β-carotene are associated with hepatocellular-carcinoma survival. 61
31915755 2020
3
Serum folate concentrations at diagnosis are associated with hepatocellular carcinoma survival in the Guangdong Liver Cancer Cohort study. 61
30935429 2019
4
Serum copper and zinc levels at diagnosis and hepatocellular carcinoma survival in the Guangdong Liver Cancer Cohort. 61
30426509 2019
5
A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. 61
28812093 2017
6
Expanded Glucose Import Capability Affords Staphylococcus aureus Optimized Glycolytic Flux during Infection. 61
27329749 2016
7
Glycoprotein labeling with click chemistry (GLCC) and carbohydrate detection. 61
25988494 2015
8
Complete genome sequence and characterization of the haloacid-degrading Burkholderia caribensis MBA4. 61
26629309 2015
9
Amyloid β-peptide 1-42 modulates the proliferation of mouse neural stem cells: upregulation of fucosyltransferase IX and notch signaling. 61
24436056 2014
10
New insights into Escherichia coli metabolism: carbon scavenging, acetate metabolism and carbon recycling responses during growth on glycerol. 61
22513097 2012
11
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease. 61
20507316 2010
12
Micelle structures in aqueous solutions of glucose-based surfactants having an isoprenoid-type hydrophobic chain. 61
17547933 2007
13
The gene yghK linked to the glc operon of Escherichia coli encodes a permease for glycolate that is structurally and functionally similar to L-lactate permease. 61
11283302 2001
14
A convenient oxidation of natural glycosphingolipids to their "ceramide acids" for neoglycoconjugation. Bovine serum albumin-glycosylceramide acid conjugates as investigative probes for HIV gp120 coat protein-glycosphingolipid interactions. 61
10400707 1999
15
Cross-induction of glc and ace operons of Escherichia coli attributable to pathway intersection. Characterization of the glc promoter. 61
9880556 1999
16
Composition and biophysical properties of myelin lipid define the neurological defects in galactocerebroside- and sulfatide-deficient mice. 61
9422376 1998
17
glc locus of Escherichia coli: characterization of genes encoding the subunits of glycolate oxidase and the glc regulator protein. 61
8606183 1996
18
Glycerol uptake mutants of the hyphal fungus Aspergillus nidulans. 61
3053975 1988

Variations for Glaucoma, Primary Closed-Angle

ClinVar genetic disease variations for Glaucoma, Primary Closed-Angle:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL18A1 NM_030582.4(COL18A1):c.550G>A (p.Glu184Lys)SNV Pathogenic 872908
2 COL18A1 NM_030582.4(COL18A1):c.808del (p.Arg270fs)deletion Pathogenic 872909
3 COL18A1 NM_030582.4(COL18A1):c.1129del (p.Leu377fs)deletion Pathogenic 872910

Expression for Glaucoma, Primary Closed-Angle

Search GEO for disease gene expression data for Glaucoma, Primary Closed-Angle.

Pathways for Glaucoma, Primary Closed-Angle

GO Terms for Glaucoma, Primary Closed-Angle

Sources for Glaucoma, Primary Closed-Angle

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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