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Isolated dominant hypomagnesemia
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Isolated dominant hypomagnesemia

Clinical feature: 

Definition: 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.

History: An autosomal dominant magnesium wasting disorder has been first described by Geven in 1987.

Diagnostics: 

Differential: Isolated recessive hypomagnesemia (IRH) inherits recessively, so we would not expect a family history but consanguinity.  » » » 
   Hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is characterized by renal calcium wastage.  » » » 
   Hypomagnesemia with secondary hypocalcemia (HSH) has no hypercalciuria, too, but hypocalcemia.  » » » 

Systematic link table: 

Hypomagnesemia
EGFR
TRPM7
Gitelman syndrome
SLC12A3
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2

Literature: 

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