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tubulointerstitial kidney disease, autosomal dominant, 2

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.
Uniprot Description A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.
Mondo Term and Equivalent IDs
MONDO:0020726:  tubulointerstitial kidney disease, autosomal dominant, 2
GARD:0007002: 
NCIT:C123171: 
Orphanet:88949: 
UMLS:C1868139: