normophosphatemic familial tumoral calcinosis

Epidemiology

• uncommon

Pathology

• life-threatening disorder
• massive periarticular, & seldom visceral, deposition of calcified tumors

Genetics

• associated with defects in SAMD9

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/610455