Details of Disease | DrugMAP

General Information of Disease (ID: DISEER2W)

Disease Name	Parathyroid gland carcinoma
Synonyms	PRTC; cancer of the parathyroid gland; parathyroid gland cancer; cancer of parathyroid gland; parathyroid neoplasm; malignant neoplasm of parathyroid gland; malignant tumour of parathyroid gland; parathyroid gland neoplasm; malignant neoplasm of the parathyroid; parathyroid cancer; carcinoma of parathyroid; carcinoma of parathyroid gland; parathyroid adenocarcinoma; adenocarcinoma of the parathyroid; parathyroid carcinoma; parathyroid gland carcinoma; carcinoma of the parathyroid; adenocarcinoma of the parathyroid gland; adenocarcinoma of parathyroid gland; adenocarcinoma of parathyroid; carcinoma of the parathyroid gland; parathyroid gland adenocarcinoma
Definition	A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.
Disease Hierarchy	DISYKSRF: Genetic disease DIS4X92K: Malignant tumor of parathyroid gland DIS3IHTY: Adenocarcinoma DISH9F1N: Carcinoma DISEER2W: Parathyroid gland carcinoma
Disease Identifiers	MONDO ID MONDO_0012004 MESH ID D010282 UMLS CUI C0687150 OMIM ID 608266 MedGen ID 146361 HPO ID HP:0006780 Orphanet ID 143 SNOMED CT ID 255037004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNA3	TTY3UE6	Limited	Biomarker	[1]
PTH	TT6F7GZ	Strong	Altered Expression	[2]
UCHL1	TTX9IFP	Strong	Biomarker	[3]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BIRC6	OTCQJAB0	Limited	Altered Expression	[4]
GCM2	OTSKNPTI	Limited	Biomarker	[5]
PRUNE2	OTGW2974	Limited	Genetic Variation	[6]
PTMS	OT9PS4Q0	Limited	Biomarker	[7]
THRAP3	OTG25JOG	Limited	Genetic Variation	[8]
CDC73	OT6JASZ1	Strong	Autosomal dominant	[9]
EIF4EBP3	OTYY2WS5	Strong	Biomarker	[10]
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⏷ Show the Full List of 7 DOT(s)

References

1	Gene identification of potential malignant parathyroid tumors phenotype in Chinese population.Endocr J. 2014;61(6):597-605. doi: 10.1507/endocrj.ej14-0023. Epub 2014 Mar 29.
2	Role of ultrasound in the differentiation of parathyroid carcinoma and benign parathyroid lesions.Clin Radiol. 2020 Mar;75(3):179-184. doi: 10.1016/j.crad.2019.10.004. Epub 2019 Nov 22.
3	Parathyroid carcinoma: current understanding and new insights into gene expression and intraoperative parathyroid hormone kinetics.Oncologist. 2010;15(1):61-72. doi: 10.1634/theoncologist.2009-0185. Epub 2010 Jan 5.
4	Molecular profiling of parathyroid hyperplasia, adenoma and carcinoma.Pathol Oncol Res. 2012 Jul;18(3):607-14. doi: 10.1007/s12253-011-9483-7. Epub 2011 Dec 24.
5	Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.Surgery. 2018 Jan;163(1):31-34. doi: 10.1016/j.surg.2017.04.027. Epub 2017 Nov 3.
6	Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.J Clin Endocrinol Metab. 2015 Feb;100(2):E360-4. doi: 10.1210/jc.2014-3238. Epub 2014 Nov 11.
7	MANAGEMENT OF ENDOCRINE DISEASE: Unmet therapeutic, educational and scientific needs in parathyroid disorders.Eur J Endocrinol. 2019 Sep 1;181(3):P1-P19. doi: 10.1530/EJE-19-0316. Epub 2019 Jun 1.
8	Complete genomic landscape of a recurring sporadic parathyroid carcinoma.J Pathol. 2013 Jul;230(3):249-60. doi: 10.1002/path.4203.
9	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
10	The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.Cell Death Dis. 2012 Feb 2;3(2):266. doi: 10.1038/cddis.2012.6.