GLAUCOMA 1, OPEN ANGLE, P

General Information (adopted from Orphanet):

Synonyms, Signs: GLC1P
Number of Symptoms 9
OrphanetNr:
OMIM Id: 177700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001123) Visual field defect 30 / 7739
2
(HPO:0007854) Glaucomatous visual field defect 2 / 7739
3
(HPO:0000501) Glaucoma 180 / 7739
4
(HPO:0012796) Increased cup-to-disc ratio 2 / 7739
5
(OMIM) Cupping of optic nerve head 1 / 7739
6
(HPO:0003581) Adult onset 117 / 7739
7
(OMIM) Thin central cornea 1 / 7739
8
(OMIM) Increased cup-to-disc ratio 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Bennett et al. (1989) studied a family in which 8 members over 4 consecutive generations exhibited glaucomatous optic atrophy and visual field loss at normal or borderline intraocular pressure. The disease was detectable in early adulthood and progressed ...
Molecular genetics OMIM Fingert et al. (2011) performed copy number variation (CNV) analysis of microarray data from the genomewide linkage analysis of a 4-generation African American pedigree with NTG and identified a large duplication of approximately 600 kb within the linked ...