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Primary hypomagnesemia with secondary hypocalcemia

Disease ID:782
Name:Primary hypomagnesemia with secondary hypocalcemia
Associated with:1 target
Hypomagnesemia 1, intestinal
Database Links
OMIM: 602014
Orphanet: ORPHA30924


Role:  Possible role in altered intestinal Mg2+ reuptake and renal Mg2+ reabsorption.
References:  1-2
Mutations:  TRPM6 is associated with 3 mutation. Click here for details


No ligand related data available for Primary hypomagnesemia with secondary hypocalcemia


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1. Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M. (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat. Genet., 31 (2): 166-70. [PMID:12032568]

2. Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC. (2002) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat. Genet., 31 (2): 171-4. [PMID:12032570]