{"id":27097,"date":"2024-05-26T12:04:36","date_gmt":"2024-05-26T10:04:36","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27097"},"modified":"2025-08-26T10:16:46","modified_gmt":"2025-08-26T08:16:46","slug":"cdc73-associated-hyperparathyroid-jaw-tumor-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/cdc73-associated-hyperparathyroid-jaw-tumor-syndrome\/","title":{"rendered":"CDC73-Associated (Hyperparathyroid-Jaw Tumor) Syndrome"},"content":{"rendered":"

CDC73-Associated (Hyperparathyroid-Jaw Tumor) Syndrome \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

CDC73-associated (hyperparathyroid-jaw tumor) syndrome (HPT-JT; OMIM #145001) is a rare genetic disorder caused by pathogenic variants in the CDC73<\/em> gene (also HRPT-2<\/em>). It predisposes to primary hyperparathyroidism (PHPT) and parathyroid carcinomas, ossifying fibromas of the maxilla and\/or mandible, as well as renal and uterine tumors.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

familial primary hyperparathyroidism with multiple ossifying jaw fibromas and familial cystic parathyroid adenomatosis<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gene:<\/p>\n<\/div><\/div><\/div>

CDC73<\/i><\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

Parafibromin<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Function:<\/p>\n<\/div><\/div><\/div>

Subunit of the PAF1 protein complex, acts as a transcription factor<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Prevalence:<\/p>\n<\/div><\/div><\/div>

unknown<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

missense mutations are more likely to be associated with isolated familial hyperparathyroidism, apart from these, none are known<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Penetrance:<\/p>\n<\/div><\/div><\/div>

80-90%, for women, about 70%<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>