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Nephronophthisis, familial juvenile [Supplementary Concept]

A hereditary, autosomal recessive cystic kidney disease that leads to RENAL FAILURE in childhood or adolescence. It is the most frequent genetic cause of renal failure in children and is characterized by ANEMIA; POLYURIA; POLYDYPSIA, and isosthenuria; extrarenal manifestations may include, LIVER FIBROSIS; SITUS INVERSUS, and cardiac malformations. Mutations in the NPHP1 gene have been identified. OMIM: 256100

Date introduced: August 25, 2010

MeSH Unique ID: C537699

Heading Mapped to:

Entry Terms:

  • Nephronophthisis 1
  • Juvenile nephronophthisis
  • Type 1 nephronophthisis

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