Ciliopathy: Nephronophthisis

Nephronophthisis (NPHP) represents an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with twenty identified genes. NPHP occurs as an isolated kidney disease but approxmiately 15% of NPHP patients have additional extrarenal symptoms affecting other organs (e.g. eyes, liver, bones, and CNS). The pleiotropy in NPHP is explained by the finding that almost all NPHP gene products share expression in primary cilia, a sensory organelle present in most mammalian cells. If extrarenal symptoms are present in addition to NPHP, these disorders are classified as NPHP-related ciliopathies (NPHP-RC) (PMID:25635582).

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