Orphanet: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
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Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Disease definition

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. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

ORPHA:306661

Classification level: Subtype of disorder
  • 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: -

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014)

Detailed information

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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