X-linked Alport syndrome-diffuse leiomyomatosis
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 September 2023.
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.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.