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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111113
MESH:C566582
OMIM:602088
Orphanet:93591
UMLS:C1865872
MONDO:0011190
High level summary of knowledge for a disease, including descriptions and datasource references.