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familial tumoral calcinosis

Pathology: - massive Ca+2 deposits in the skin & subcutaneous tissues Genetics: 1) autosomal recessive 2) associated with defects in GALNT3 gene 3) associated with defects in FGF23 4) associate with defects in the klotho precursor (KL) Clinical manifestations: - some patients manifest recurrent, transient, painful swelling of the long bones & absence of skin involvement Laboratory: - serum phosphate: hyperphosphatemia Radiography: - long bones: periosteal reaction & cortical hyperostosis in some patients

General

enzyme deficiency

Database Correlations

OMIM 211900

References

  1. UniProt :accession Q14435
  2. OMIM :accession 211900