Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal hypomagnesemia 6

Renal hypomagnesemia type 6 is an autosomal dominant disorder caused by mutations of the CNNM2 gene. Clinical manifestation may start in childhood. No other electrolyte abnormalities are observed.

Systematic

Hypomagnesemia
EGFR
Gitelman syndrome
Hereditary myokymia type 1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
Hypomagnesemia with normocalciuria
Intestinal hypomagnesemia with secondary hypocalcemia
Isolated dominant hypomagnesemia
Renal cysts and diabetes (RCAD)
Renal hypomagnesemia 6
CNNM2
TRPM7

References:

1.

Stuiver M et al. (2011) CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

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Update: Sept. 26, 2018