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CDC73-Related Neoplastic Syndrome

MedGen UID:
Concept ID:
Disease or Syndrome


A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCDC73-Related Neoplastic Syndrome

Recent clinical studies


van der Tuin K, Tops CMJ, Adank MA, Cobben JM, Hamdy NAT, Jongmans MC, Menko FH, van Nesselrooij BPM, Netea-Maier RT, Oosterwijk JC, Valk GD, Wolffenbuttel BHR, Hes FJ, Morreau H
J Clin Endocrinol Metab 2017 Dec 1;102(12):4534-4540. doi: 10.1210/jc.2017-01249. PMID: 29040582


Erickson LA, Mete O, Juhlin CC, Perren A, Gill AJ
Endocr Pathol 2022 Mar;33(1):64-89. Epub 2022 Feb 17 doi: 10.1007/s12022-022-09709-1. PMID: 35175514
Mahtani K, Park D, Abbott J, Selvam PP, Atwal PS
Hum Hered 2021;86(1-4):28-33. Epub 2021 Oct 27 doi: 10.1159/000519356. PMID: 34706366
Frank-Raue K, Haag C, Schulze E, Keuser R, Raue F, Dralle H, Lorenz K
Eur J Endocrinol 2011 Sep;165(3):477-83. Epub 2011 Jun 7 doi: 10.1530/EJE-11-0003. PMID: 21652691


E Y, Xue H, Zhang CY, Zhao MZ, Zheng HC
Histol Histopathol 2023 Apr;38(4):453-465. Epub 2022 Oct 18 doi: 10.14670/HH-18-534. PMID: 36255176

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