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Hypomagnesemia with normocalciuria


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Hypomagnesemia with normocalciuria

Clinical feature: 

Definition: Isolated recessive hypomagnesemia is an autosomal recessive disorder characterized by normocalcemia and mental retardation. The underlying mutation affects pro-EGF sorting and prevents the hormone's effect on TRPM6 the magnesium channel in the dital convoluted tubule and probably in the intestine.

History: This disorder has recently (2007) detected by Groenestege. By investigating this disorder, the first hormone affecting magnesium homeostasis has been detected.

Epidemiology: A single family has been described yet.

Diagnostics: 

Differential: The dominant type of isolated hypomagnesemia (IDH) only has a different inheritance pattern in consequence of which if not a de novo mutation, family history is instructive.  » » » 
   Hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is characterized by hypocalcemia, renal calcium wastage, and nephrocalcinosis.  » » » 
   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: 

Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.