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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 et al.. (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 et al.. (2002) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet, 31 (2): 171-4. [PMID:12032570]