|
MCID: GLC079
MIFTS: 17
|
Glaucoma 1, Open Angle, P
Categories:
Genetic diseases, Rare diseases, Eye diseases
|
|
|
|
MalaCards integrated aliases for Glaucoma 1, Open Angle, P:
Characteristics:OMIM:57
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:32
glaucoma 1, open angle, p:
Inheritance autosomal dominant inheritance Onset and clinical course adult onset Classifications: |
|
OMIM
:
57
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, and related phenotypes are glaucoma and increased cup-to-disc ratio UniProtKB/Swiss-Prot : 75 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. |
Diseases in the Open-Angle Glaucoma family:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:177700Human phenotypes related to Glaucoma 1, Open Angle, P:32
|
|
|
MalaCards organs/tissues related to Glaucoma 1, Open Angle, P:41
Eye
|
Genes related to Glaucoma 1, Open Angle, P (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Glaucoma 1, Open Angle, P:6
|
|
Search
GEO
for disease gene expression data for Glaucoma 1, Open Angle, P.
|
|
|
|