Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Isolated dominant hypomagnesemia

Isolated dominant hypomagnesemia (IDH) is an autosomal dominant disorder of magnesium wastage. The mild hypomagnesemia occurs without other electrolyte abnormalities. A mutation in the FXYD2 gene is responsible for this disorder.

Historical Aspects

An autosomal dominant magnesium wasting disorder has been first described by Geven in 1987.[Error: Macro 'ref' doesn't exist]

Symptoms

Hypomagnesaemia
Hypomagnesemia is the single symptom of isolated hypomagnesemia (IDH). No other solute disturbances are seen.

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
FXYD2
Renal cysts and diabetes (RCAD)
Renal hypomagnesemia 6
TRPM7

References:

1.

Geven WB et al. (1987) Renal magnesium wasting in two families with autosomal dominant inheritance.

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2.

OMIM.ORG article

Omim 154020 [^]
Update: May 9, 2019