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proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure.
Mondo Term and Equivalent IDs
MONDO:0010644:  proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
UMLS:C1839874: