Orphanet: Autosomal dominant primary hypomagnesemia with hypocalciuria

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Autosomal dominant primary hypomagnesemia with hypocalciuria

Disease definition

A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


Classification level: Disorder
  • Synonym(s):
    • HOMG2
    • Isolated autosomal dominant hypomagnesemia
    • Isolated renal magnesium wasting
    • Renal hypomagnesemia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E83.4
  • OMIM: 154020
  • UMLS: C1835171
  • MeSH: -
  • GARD: 3350
  • MedDRA: -

Detailed information


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