Details of Disease

General Information of Disease (ID: DISNS4MA)

• Disease Name: Familial primary hypomagnesemia with normocalcuria
• Definition: Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.
• Disease Hierarchy:
  DIS6TTKI: Familial primary hypomagnesemia
  DISNS4MA: Familial primary hypomagnesemia with normocalcuria