intestinal hypomagnesemia 1

Rare Disease

MONDO:0011176

Also Known As

HOMG1HSHPHSHTRPM6 familial primary hypomagnesemiaTRPM6 primary hypomagnesemiafamilial primary hypomagnesemia caused by mutation in TRPM6hypomagnesemia caused by selective magnesium malabsorptionhypomagnesemia intestinal type 1hypomagnesemic tetanyintestinal hypomagnesemia type 1intestinal hypomagnesemia with secondary hypocalcemiaprimary hypomagnesemia caused by mutation in TRPM6primary hypomagnesemia with secondary hypocalcemiaHomghypomagnesemia 1, intestinalhypomagnesemia with secondary hypocalcemiahypomagnesemia, intestinal, with secondary hypocalcemia

Definition

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.