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Nail-patella-like renal disease

Disease definition

A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.

ORPHA:2613

Classification level: Disorder
  • Synonym(s):
    • Salcedo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: N07.8
  • OMIM: 256020
  • UMLS: C0403548
  • MeSH: -
  • GARD: 321
  • MedDRA: -
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