GLAUCOMA 3, PRIMARY CONGENITAL, D

General Information (adopted from Orphanet):

Synonyms, Signs: GLC3D
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613086
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008007) Primary congenital glaucoma 2 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(HPO:0007957) Corneal opacity 84 / 7739
4
(HPO:0001083) Ectopia lentis 1/8 [HPO:probinson] 45 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Firasat et al. (2008) identified 2 consanguineous Pakistani families in which PCG mapped to chromosome 14q24.2-q24.3 (GLC3D). Both families were from the Punjab province. Symptoms of PCG in one family appeared in the first 3 years of life. ...
Molecular genetics OMIM Firasat et al. (2008) and Ali et al. (2009) pointed out that the GLC3D locus on chromosome 14q24.2-q24.3 is adjacent to but does not overlap the GLC3C locus (613085). The GLC3D locus implicated in the Pakistani families contained ...
Population genetics OMIM Ali et al. (2009) found the same R299X mutation in a Pakistani family and in 8 Gypsy families with PCG. Affected members of all these families shared an identical haplotype, implying that they shared a distant common ancestor. ...