IRIS PIGMENT EPITHELIUM ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs: RUFFLES AND CYSTS OF IRIS PIGMENT EPITHELIUM
CYSTS OF IRIS PIGMENT EPITHELIUM
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601616
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:0000478) Abnormality of the eye 126 / 7739
2
(OMIM) Anomalies of iris epithelium 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Peripupillary iris ruffles 1 / 7739
5
(OMIM) Cysts of iris epithelium 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lee et al. (1996) described 2 families that had anomalies of the iris epithelium characterized by cysts and peripupillary ruffles in successive generations. In 1 family, the proband was 3 months old. Both cysts and ruffles were present ...