Trichorhinophalangeal Syndrome, Type I (TRPS1)

Trichorhinophalangeal Syndrome, Type I, also known as trichorhinophalangeal dysplasia type i, is related to trichorhinophalangeal syndrome and hereditary multiple exostoses, and has symptoms including koilonychia and thin, sparse hair. An important gene associated with Trichorhinophalangeal Syndrome, Type I is TRPS1 (Transcriptional Repressor GATA Binding 1), and among its related pathways/superpathways are Epithelial to mesenchymal transition in colorectal cancer and CCL18 signaling pathway. Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and macrotia