X-Linked Alport Syndrome-Diffuse Leiomyomatosis

X-Linked Alport Syndrome-Diffuse Leiomyomatosis, also known as xq22.3 microdeletion syndrome, is related to x-linked alport syndrome and alport syndrome, and has symptoms including constipation and dyspnea. An important gene associated with X-Linked Alport Syndrome-Diffuse Leiomyomatosis is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include smooth muscle and eye, and related phenotypes are dysphagia and esophageal neoplasm