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X-linked Alport syndrome-diffuse leiomyomatosis

Disease definition

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.


Classification level: Subtype of disorder
  • Synonym(s):
    • Xq22.3 microdeletion syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood, Adult, Adolescent
  • ICD-10: Q87.8
  • OMIM: 150700  308940
  • UMLS: -
  • MeSH: -
  • GARD: 2432
  • MedDRA: -

Detailed information


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