Cogan-Reese Syndrome

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Disease Ontology 12 DOID:0060217 NCIt 50 C84644 SNOMED-CT 68 129624009 404633004 Orphanet 59 ORPHA98980

ICD10 via Orphanet 34 H21.2 UMLS via Orphanet 74 C1168173 UMLS 73 C1168173

NIH Rare Diseases : ⁵³ Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE. 

MalaCards based summary : Cogan-Reese Syndrome is related to corneal endothelial dystrophy and iridocorneal endothelial syndrome. An important gene associated with Cogan-Reese Syndrome is CAMLG (Calcium Modulating Ligand). Affiliated tissues include iris, eye and endothelial, and related phenotypes are hematopoietic system and immune system

Disease Ontology : ¹² An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.

Search Clinical Trials , NIH Clinical Center for Cogan-Reese Syndrome

Search GEO for disease gene expression data for Cogan-Reese Syndrome.