GLAUCOMA 1, OPEN ANGLE, M

General Information (adopted from Orphanet):

Synonyms, Signs: GLC1M
Number of Symptoms 9
OrphanetNr:
OMIM Id: 610535
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:0012108) Primary open angle glaucoma 6 / 7739
2
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
3
(OMIM) Disc hemorrhage 1 / 7739
4
(OMIM) Anterior chamber angle open with grade III-IV gonioscopy 1 / 7739
5
(OMIM) Visual field loss 3 / 7739
6
(OMIM) Bilateral intraocular pressures greater than or equal to 22 mmHg 1 / 7739
7
(OMIM) Thin or notched neuroretinal rim 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Vertical cup-to-disc ratio greater than or equal to 0.7 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (2004) reported a large 5-generation Filipino kindred segregating juvenile-onset primary open angle glaucoma (JOAG) in an autosomal dominant fashion. Clinical characteristics were determined for 95 family members, 22 of whom were diagnosed with JOAG, including ...
Molecular genetics OMIM In a screen of the WDR36 gene (609669), which is located centromeric to the GLC1M interval at 5q22.1, Pang et al. (2006) found no mutations within any of the 23 coding exons or splicing junctions. Fan et al. ...