- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > familial tumoral calcinosis

familial tumoral calcinosis


Tuesday 11 May 2004

Familial tumoral calcinosis (MIM.211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.


- mutations in GALNT3, encoding a protein involved in O-linked glycosylation (MIM.601756) (15133511)