DISEASES

Disease-gene associations mined from literature

Human genes for hyperphosphatemic familial tumoral calcinosis

Hyperphosphatemic familial tumoral calcinosis [DOID:0111063]

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.

Synonyms:  hyperphosphatemic familial tumoral calcinosis,  DOID:0111063,  hyperphosphatemic hereditary tumoral calcinosis,  hyperphosphatemic familial tumoral calcinosises,  HFTC ...