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intestinal hypomagnesemia 1

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage.
Mondo Term and Equivalent IDs
MONDO:0011176:  intestinal hypomagnesemia 1
GARD:0013072: 
MESH:C566593: 
Orphanet:30924: 
SCTID:190856003: 
UMLS:C1865974: