Conditions / Genetic

intestinal hypomagnesemia 1

info · Genetic · ICD-10: E83.4

A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9

A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.

Signs and symptoms

  • Hypomagnesemia
  • Hypocalcemia
  • Muscle spasm
  • Tetany
  • Seizure

Also known as: HOMG1; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemic tetany; intestinal hypomagnesemia with secondary hypocalcemia