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Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Disease definition

Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

ORPHA:306661

  • Synonym(s):
    • Hypercalcemic tumoral calcinosis
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: M11.2
  • OMIM: 211900  617993  617994
  • UMLS: -
  • MeSH: -
  • GARD: 10879
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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