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


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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