Nephronophthisis

Orpha code: 655OMIM code: 615862

Definition

A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.

Disease data
Classification

Disease

ORPHA code
655
OMIM code
615862
ICD10 code
Q61.5
ICD11 code
GB83

No additional description.

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