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renal hypomagnesemia 3

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Uniprot Description A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia.
Mondo Term and Equivalent IDs
MONDO:0009550:  renal hypomagnesemia 3
MESH:C537153: 
Orphanet:31043: 
SCTID:725033008: