Hyperparathyroidism-Jaw Tumor Syndrome (CDC73-Related)

 

Chromosome location: 1q25 to 1q31

Gene: CDC73 (HRPT2)

Gene product: parafibromin

Function: tumor suppression

 

Inheritance: autosomal dominant, with affected parent and/or sibling

 

Clinical features:

(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