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Intestinal hypomagnesemia 1

rare

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.

Identifiers
MONDO:0011176 OMIM:602014Orphanet:30924
Causal genes
TRPM6
Part of
Familial primary hypomagnesemia with normocalcuria
Also known as
familial primary hypomagnesemia caused by mutation in TRPM6 · HOMG1 · HSH · hypomagnesemia 1, intestinal · hypomagnesemia caused by selective magnesium malabsorption

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