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Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

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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: C5679978

GARD: 10879

A summary on this disease is available in Français (2014) Español (2014) Nederlands (2014)
Detailed information
Disease review articles
Clinical genetics review
English (2018) - GeneReviews
Genetic testing
Guidance for genetic testing
English (2018.pdf) - Eur J Hum Genet

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

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