hyperphosphatemic familial tumoral calcinosis (DOID:0111063)
Alliance: disease page
Synonyms: cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia
Alt IDs: OMIM:211900, ICD10CM:M11.2, ORDO:306661
Definition: A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.