Orphanet: Alport syndrome
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Alport syndrome

Disease definition

A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

ORPHA:63

Classification level: Disorder
  • Synonym(s):
    • Alport deafness-nephropathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: Adolescent, Adult, Elderly, Childhood
  • ICD-10: Q87.8
  • OMIM: 104200  203780  301050
  • UMLS: C1567741
  • MeSH: D009394
  • GARD: 5785
  • MedDRA: 10001843

Detailed information

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