CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA

General Information (adopted from Orphanet):

Synonyms, Signs: CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA
Number of Symptoms 8
OrphanetNr:
OMIM Id: 608484
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:0009918) Ectopia pupillae 6 / 7739
2
(HPO:0007957) Corneal opacity 84 / 7739
3
(OMIM) Normal lens 1 / 7739
4
(OMIM) Corneal opacities, bilateral superior 1 / 7739
5
(OMIM) Normal vitreous 1 / 7739
6
(OMIM) Cornea guttata 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Normal retina 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hwang et al. (2003) described a mother and son with a seemingly distinct syndrome of congenital bilateral superior full-thickness V-shaped corneal opacities, cornea guttata (focal accumulations of collagen on the posterior surface of Descemet membrane), and corectopia (updrawn ...