X-linked Alport syndrome-diffuse leiomyomatosis

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Xq22.3 microdeletion 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

Newly diagnosed with
X-linked Alport syndrome-diffuse leiomyomatosis?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.