GLAUCOMA 3, PRIMARY CONGENITAL, A

General Information (adopted from Orphanet):

Synonyms, Signs: BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
GLAUCOMA, CONGENITAL
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED
GLC3
GLC3A
Number of Symptoms 5
OrphanetNr:
OMIM Id: 231300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000557) Buphthalmos 16 / 7739
2
(HPO:0008041) Late onset congenital glaucoma 2 / 7739
3
(HPO:0007906) Increased intraocular pressure 30 / 7739
4
(OMIM) Early onset open-angle glaucoma 2 / 7739
5
(OMIM) Ocular globe large 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years ...
Clinical Description OMIM The ocular globe is usually large as a result of the increased intraocular pressure dating from intrauterine life, hence the term buphthalmos, meaning 'ox eye.' In only about half of cases are both eyes involved, and males are ...
Molecular genetics OMIM - Primary Congenital Glaucoma 3A

Stoilov et al. (1997) used a combination of GLC3A-linked polymorphic markers (STRPs), YAC screening, and radiation hybrid mapping of published and newly generated data on STSs and ESTs to establish a ...

Population genetics OMIM Chakrabarti et al. (2006) found that common mutations in CYP1B1 that cause primary congenital glaucoma occur on a uniform haplotype background among Indian patients, which is distinct from the modal haplotype background found among unaffected control subjects. They ...