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nephronophthisis 1

Disease Summary
Associated Targets (6)
Tbio

6


Explore Associated Targets
Mondo Description Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
Uniprot Description An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.
Mondo Term and Equivalent IDs
MONDO:0009728:  nephronophthisis 1
MESH:C537699: 
NCIT:C74998: 
Orphanet:93592: 
SCTID:444830001: 
UMLS:C1855681: 
UMLS:CN205459: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found