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Alport syndrome

Disease definition

Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.

ORPHA:63

  • Synonym(s):
    • Alport deafness-nephropathy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 104200  203780  301050
  • UMLS: C1567741
  • MeSH: D009394
  • GARD: 5785
  • MedDRA: 10001843

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.