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normophosphatemic familial tumoral calcinosis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.
Mondo Term and Equivalent IDs
MONDO:0012502:  normophosphatemic familial tumoral calcinosis
GARD:0010878: 
MESH:C566473: 
Orphanet:306658: