Stickler Syndrome

About the Disease
Stickler Syndrome, also known as hereditary progressive arthroophthalmopathy, is related to stickler syndrome, type i and otospondylomegaepiphyseal dysplasia, autosomal dominant. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related phenotypes are cataract and skeletal dysplasia

Common Targets
BMP4 | COL9A1 | COL9A2 | P3H2 | COL9A3 | LRP2 | COL11A1 | COL2A1 | LOXL3 | COL11A2 | PLOD3

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