Hyperparathyroidism-Jaw Tumor (HPT-JT) Syndrome is a hereditary disorder related to mutations in CDC73 (also referred to as HRPT2).
Chromosome location: 1q25 to 1q31
Gene: CDC73 (HRPT2)
Gene product: parafibromin
Function: tumor suppression
Inheritance: autosomal dominant, with affected parent and/or sibling
(1) primary hyperparathyroidism, usually with an onset during adolescence or early adulthood
(2) parathyroid tumor, either an adenoma or carcinoma
(3) ossifying fibroma of the mandible or maxilla (cementifying fibroma)
Associated findings may include:
(1) renal hamartomas, renal cysts or rarely Wilm's tumors
(2) uterine tumors in females
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Specialty: Endocrinology, Clinical Laboratory, Orthopedic Surgery