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nephronophthisis 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.
Uniprot Description An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Mondo Term and Equivalent IDs
MONDO:0011752:  nephronophthisis 4
MESH:C564640: 
SCTID:446989009: 
UMLS:C1847013: 
UMLS:C2959367: