MCID: GLC079
MIFTS: 17

Glaucoma 1, Open Angle, P

Categories: Eye diseases, Genetic 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 53 71 13 69
Glc1p 53 71
Primary Open Angle Glaucoma 1p 71

Characteristics:

OMIM:

53
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 53 177700
MeSH 41 D005902
SNOMED-CT via HPO 65 263681008 23986001 370961005
UMLS 69 C3888338

Summaries for Glaucoma 1, Open Angle, P

OMIM : 53 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, and has symptoms including glaucoma, increased cup-to-disc ratio and glaucomatous visual field defect. An important gene associated with Glaucoma 1, Open Angle, P is GLC1P (Glaucoma 1, Open Angle, P). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cupping of optic nerve head
increased cup-to-disc ratio
thin central cornea
visual field defects


Clinical features from OMIM:

177700

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

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:

38
Eye

Publications for Glaucoma 1, Open Angle, P

Variations for Glaucoma 1, Open Angle, P

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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