X-linked diffuse leiomyomatosis‑Alport syndrome
Engelsk navn: X-linked Alport syndrome-diffuse leiomyomatosis
Engelske synonym: Xq22.3 microdeletion syndrome
Definisjon
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
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
