Primary hypomagnesemia with secondary hypocalcemia

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

Targets

TRPM6
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

Ligands

No ligand related data available for Primary hypomagnesemia with secondary hypocalcemia

References

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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]