GLC1P
MCID: GLC079
MIFTS: 23

Glaucoma 1, Open Angle, P (GLC1P)

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

Aliases & Classifications for Glaucoma 1, Open Angle, P

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

Name: Glaucoma 1, Open Angle, P 56 73 6 71
Glc1p 56 73
Primary Open Angle Glaucoma 1p 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)


HPO:

31
glaucoma 1, open angle, p:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 177700
MeSH 43 D005902
SNOMED-CT via HPO 68 23986001 263681008 370961005
UMLS 71 C3888338

Summaries for Glaucoma 1, Open Angle, P

OMIM : 56 Glaucomas are a group of common neurodegenerative diseases of the optic nerve and retinal ganglion cells, characterized by progressive cupping of the optic nerve head with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common form of glaucoma in the US is primary open-angle glaucoma (POAG; see 137760). POAG that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal tension glaucoma' (summary by Fingert et al., 2011). For a discussion of genetic heterogeneity of primary open angle glaucoma, see 137760. (177700)

MalaCards based summary : Glaucoma 1, Open Angle, P, is also known as glc1p. An important gene associated with Glaucoma 1, Open Angle, P is GLC1P (Glaucoma 1, Open Angle, P). Affiliated tissues include eye, retina and liver, and related phenotypes are glaucoma and increased cup-to-disc ratio

UniProtKB/Swiss-Prot : 73 Glaucoma 1, open angle, P: 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. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure.

Related Diseases for Glaucoma 1, Open Angle, P

Symptoms & Phenotypes for Glaucoma 1, Open Angle, P

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

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 increased cup-to-disc ratio 31 HP:0012796
3 glaucomatous visual field defect 31 HP:0007854

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
increased cup-to-disc ratio
visual field defects
cupping of optic nerve head
thin central cornea

Clinical features from OMIM:

177700

Drugs & Therapeutics for Glaucoma 1, Open Angle, P

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

Genetic Tests for Glaucoma 1, Open Angle, P

Anatomical Context for Glaucoma 1, Open Angle, P

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

40
Eye, Retina, Liver

Publications for Glaucoma 1, Open Angle, P

Articles related to Glaucoma 1, Open Angle, P:

(show all 31)
# Title Authors PMID Year
1
TBK1 and flanking genes in human retina. 56 61
23421332 2014
2
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. 61 56
21447600 2011
3
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma. 56
25284765 2015
4
Confirmation of TBK1 duplication in normal tension glaucoma. 56
22306015 2012
5
An autosomal dominant form of low-tension glaucoma. 56
2774031 1989
6
Pseudoglaucoma of autosomal, dominant inheritance. A report on three families. 56
13746222 1961
7
Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium. 61
32188137 2020
8
Efficient one-pot enzymatic synthesis of trehalose 6-phosphate using GH65 α-glucoside phosphorylases. 61
31911362 2020
9
Large-scale preparation of β-1,2-glucan using quite a small amount of sophorose. 61
31189457 2019
10
Unravelling the Specificity of Laminaribiose Phosphorylase from Paenibacillus sp. YM-1 towards Donor Substrates Glucose/Mannose 1-Phosphate by Using X-ray Crystallography and Saturation Transfer Difference NMR Spectroscopy. 61
29856496 2019
11
Pyrophosphate inhibits gluconeogenesis by restricting UDP-glucose formation in vivo. 61
30279540 2018
12
Evaluation of acceptor selectivity of Lactococcus lactis ssp. lactis trehalose 6-phosphate phosphorylase in the reverse phosphorolysis and synthesis of a new sugar phosphate. 61
28537141 2017
13
Molecular insights on the recognition of a Lactococcus lactis cell wall pellicle by the phage 1358 receptor binding protein. 61
24719416 2014
14
Engineering the allosteric properties of archaeal non-phosphorylating glyceraldehyde-3-phosphate dehydrogenases. 61
24491524 2014
15
1,2-β-Oligoglucan phosphorylase from Listeria innocua. 61
24647662 2014
16
Characterization of Ruminococcus albus cellodextrin phosphorylase and identification of a key phenylalanine residue for acceptor specificity and affinity to the phosphate group. 61
23802549 2013
17
Modulation of acceptor specificity of Ruminococcus albus cellobiose phosphorylase through site-directed mutagenesis. 61
23845516 2013
18
Expression of Arabidopsis plastidial phosphoglucomutase in tobacco stimulates photosynthetic carbon flow into starch synthesis. 61
22705254 2012
19
Enzymatic characteristics of cellobiose phosphorylase from Ruminococcus albus NE1 and kinetic mechanism of unusual substrate inhibition in reverse phosphorolysis. 61
22484959 2012
20
Phosphorolytic cleavage of sucrose by sucrose-grown ruminal bacterium Pseudobutyrivibrio ruminis strain k3. 61
20680577 2010
21
Rice endosperm-specific plastidial alpha-glucan phosphorylase is important for synthesis of short-chain malto-oligosaccharides. 61
20045390 2010
22
Quantification of sugars and sugar phosphates in Arabidopsis thaliana tissues using porous graphitic carbon liquid chromatography-electrospray ionization mass spectrometry. 61
17961583 2007
23
Unusually broad substrate tolerance of a heat-stable archaeal sugar nucleotidyltransferase for the synthesis of sugar nucleotides. 61
15584733 2004
24
Carbohydrate metabolism in two apple genotypes that differ in malate accumulation. 61
15499904 2004
25
Enzymatic catalysis in crystals of Escherichia coli maltodextrin phosphorylase. 61
12217700 2002
26
Reconstitution of the hexose phosphate translocator from the envelope membranes of wheat endosperm amyloplasts. 61
8920972 1996
27
Sequence differences between human muscle and liver cDNAs for UDPglucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli. 61
8631325 1996
28
Purification and characterization of a galactose-1-phosphate: UDP-glucose uridyltransferase from the red alga Galdieria sulphuraria. 61
8529650 1995
29
Analysis of carbohydrate transport across the envelope of isolated cauliflower-bud amyloplasts. 61
7733892 1995
30
The degree of branching in (alpha 1,4)-(alpha 1,6)-linked glucopolysaccharides is dependent on intrinsic properties of the branching enzymes. 61
2959476 1987
31
The syntheses of alpha-D-glucopyranose-1-phosphates labelled with 18O in the phosphoryl or ester oxygen positions. 61
195685 1977

Variations for Glaucoma 1, Open Angle, P

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBK1 NM_013254.4(TBK1):c.541-9deldeletion Likely benign 522363 rs369498196 12:64867992-64867992 12:64474212-64474212
2 TBK1 NM_013254.4(TBK1):c.1960-10G>TSNV Benign/Likely benign 475937 rs371275822 12:64891418-64891418 12:64497638-64497638
3 TBK1 NM_013254.4(TBK1):c.978T>A (p.Ile326=)SNV Benign 403522 rs7486100 12:64875787-64875787 12:64482007-64482007
4 TBK1 NM_013254.4(TBK1):c.229-4dupduplication Benign 403521 rs57810028 12:64858100-64858101 12:64464320-64464321
5 TBK1 NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)SNV Benign 475935 rs35635889 12:64882317-64882317 12:64488537-64488537
6 TBK1 NM_013254.4(TBK1):c.66T>C (p.Asn22=)SNV Benign 475941 rs41292019 12:64849716-64849716 12:64455936-64455936

Expression for Glaucoma 1, Open Angle, P

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

Pathways for Glaucoma 1, Open Angle, P

GO Terms for Glaucoma 1, Open Angle, P

Sources for Glaucoma 1, Open Angle, P

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
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37 LifeMap
39 LOVD
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43 MeSH
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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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