Cerebroretinal Microangiopathy with Calcifications and Cysts 1 (CRMCC1)

Cerebroretinal Microangiopathy with Calcifications and Cysts 1, also known as coats plus syndrome, is related to portal hypertension and coats disease, and has symptoms including ataxia, hemiplegia and muscle spasticity. An important gene associated with Cerebroretinal Microangiopathy with Calcifications and Cysts 1 is CTC1 (CST Telomere Replication Complex Component 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. The drugs Acetylsalicylic acid and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are thrombocytopenia and oral leukoplakia