Congenital glaucoma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr: 98976
OMIM Id: 231300
600975
613085
613086
ICD-10: Q15.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary glaucoma
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0008041) Late onset congenital glaucoma 2 / 7739
2
(HPO:0000557) Buphthalmos 16 / 7739
3
(HPO:0007906) Increased intraocular pressure 30 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: