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nephronophthisis 2

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.
Mondo Term and Equivalent IDs
MONDO:0011190:  nephronophthisis 2
MESH:C566582: 
Orphanet:93591: 
UMLS:C1865872: