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Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Disease definition

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

ORPHA:2196

Classification level: Disorder
  • Synonym(s):
    • FHHNC with severe ocular involvement
    • Hypercalciuria-bilateral macular coloboma syndrome
    • Meier-Blumberg-Imahorn syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E83.4
  • OMIM: 248190
  • UMLS: C1855466  C2931121
  • MeSH: -
  • GARD: 3451
  • MedDRA: -

Detailed information

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