Hyperparathyroidism–jaw tumor syndrome

Also known as: HPT-JT syndrome

Primary hyperparathyroidism with ossifying fibromas of jaw and uterine tumors.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adolescence
Gene(s) involved: CDC73

Etiology & mechanism

Loss of parafibromin tumor suppressor.

Gene(s) involved (1)

CDC73

Symptoms & signs (7)

hypercalcemiajaw ossifying fibromakidney stonesparathyroid adenomaparathyroid carcinomarenal cystsuterine fibroids

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.