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GTR Home > Conditions/Phenotypes > Tumoral calcinosis, hyperphosphatemic, familial, 1

Summary

Excerpted from the GeneReview: Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.

Genes See tests for all associated and related genes

  • Also known as: GalNAc-T3, HFTC, HFTC1, HHS, GALNT3
    Summary: polypeptide N-acetylgalactosaminyltransferase 3

Clinical features

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