Orphanet: Familial isolated hypoparathyroidism

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Familial isolated hypoparathyroidism

Disease definition

Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E20.8
  • OMIM: 146200  307700  601198  615361
  • UMLS: C1832648
  • MeSH: C537156
  • GARD: 2910
  • MedDRA: -

Detailed information

Article for general public


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