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Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Disease definition

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

ORPHA:31043

  • Synonym(s):
    • FHHNC without severe ocular involvement
    • HOMG3
    • Renal hypomagnesemia type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E83.4
  • OMIM: 248250
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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