Nephronophthisis (NPH)

Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and juvenile nephronophthisis. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Coal tar and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are abnormality of retinal pigmentation and renal insufficiency