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Infantile nephronophthisis

Disease definition

A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.

ORPHA:93591

Classification level: Subtype of disorder
  • Synonym(s):
    • Autosomal recessive infantile NPHP
    • Autosomal recessive infantile nephronophthisis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood
  • ICD-10: Q61.5
  • OMIM: 602088  615382
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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