Alport syndrome, X-linked diffuse leiomyomatosis (Q97351)

X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked Alport syndrome with leiomyomatosis of the omophagous, tracheobronchial tree or female genitals. Alport syndrome is defined by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis is characterised by benign smooth muscle cell proliferation. Omophagous lesions, evidenced by radiographic examinations, are responsible for dysphagia and retrosternal pain. Tracheobronchial lesions lead to dyspnoea and complications during anaesthesias. Affected females typically show clitoral and vulvar hypertrophy. This is a contiguous gene syndrome by 5' terminal deletion of both COL4A5 and COL4A6.