CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 121390
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:0000505) Visual impairment 297 / 7739
2
(HPO:0001134) Anterior polar cataract 8 / 7739
3
(HPO:0001131) Corneal dystrophy 56 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dohlman (1951) described a Swedish kindred in which 15 members had corneal endothelial dystrophy (cornea guttata) in association with anterior polar cataract; in all patients the central cornea was more severely affected than the periphery. In 3 others ...