CDC73-Related Neoplastic Syndrome

MedGen UID:: 1791437
•Concept ID:: C5554996
•: Disease or Syndrome

Definition

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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCDC73-Related Neoplastic Syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Hereditary cancer-predisposing syndrome
        CDC73-Related Neoplastic Syndrome
        Familial isolated hyperparathyroidism
        Hyperparathyroidism 2 with jaw tumors

Recent clinical studies

Etiology

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

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Diagnosis

Overview of the 2022 WHO Classification of Parathyroid Tumors.

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

Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.

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

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