Agent Commons Collaborative Research
X-linked diffuse leiomyomatosis-Alport syndrome
rareA 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.
- Identifiers
- MONDO:0010641 OMIM:308940Orphanet:1018
- Also known as
- Alport syndrome with diffuse leiomyomatosis · ATS-DL · diffuse leiomyomatosis in Alport syndrome · DL-ATS · leiomyomatosis, diffuse, with Alport syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Leiomyoma of vulva and esophagus |
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