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renal hypomagnesemia 5 with ocular involvement

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Uniprot Description A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.
Mondo Term and Equivalent IDs
MONDO:0009548:  renal hypomagnesemia 5 with ocular involvement
GARD:0003451: 
MESH:C536148: 
Orphanet:2196: