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Primary hypomagnesemia with secondary hypocalcemia

Disease definition

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), 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.

ORPHA:30924

  • Synonym(s):
    • HOMG1
    • HSH
    • Hypomagnesemia caused by selective magnesium malabsorption
    • Hypomagnesemia intestinal type 1
    • Intestinal hypomagnesemia with secondary hypocalcemia
    • PHSH
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E83.4
  • OMIM: 602014
  • UMLS: C1865974
  • MeSH: -
  • GARD: -
  • MedDRA: -

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