X-linked diffuse leiomyomatosis‑Alport syndrome

Engelsk navn: X-linked Alport syndrome-diffuse leiomyomatosis
Engelske synonym: 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.

Fra Orphanet

ORPHA: 1018
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.8

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