X-linked diffuse leiomyomatosis-Alport syndrome

A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.

Also known as: Xq22.3 microdeletion syndrome, ATS-DL, Alport syndrome and diffuse leiomyomatosis, Alport syndrome with diffuse leiomyomatosis, DL-ATS, chromosome Xq22.3 centromeric deletion syndrome, diffuse leiomyomatosis in Alport syndrome, leiomyomatosis, diffuse, with Alport syndrome

17 clinical trials for this condition and its sub-types.