MCID: PRT010
MIFTS: 64

Parathyroid Carcinoma malady

Genetic diseases, Rare diseases, Cancer diseases, Endocrine diseases categories

Summaries for Parathyroid Carcinoma

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Wikipedia:64 Parathyroid carcinoma is a rare malignant neoplasm resulting in parathyroid adenoma to carcinoma... more...

MalaCards based summary: Parathyroid Carcinoma, also known as parathyroid cancer, is related to hyperparathyroidism-jaw tumor syndrome and multiple endocrine neoplasia, and has symptoms including autosomal dominant inheritance, hyperparathyroidism and somatic mutation. An important gene associated with Parathyroid Carcinoma is CDC73 (cell division cycle 73), and among its related pathways are Cell Cycle / Checkpoint Control and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds ag 1478 and carbachol have been mentioned in the context of this disorder. Affiliated tissues include the parathyroid gl, bone and thyroid, and related mouse phenotypes are muscle and craniofacial.

Disease Ontology:9 An endocrine gland cancer located in the parathyroid glands located in the neck.

Description from OMIM:46 608266

Aliases & Classifications for Parathyroid Carcinoma

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 23GTR, 34MeSH, 56SNOMED-CT, 39NCIt, 27ICD10 via Orphanet, 26ICD10
See all sources

Parathyroid Carcinoma, Aliases & Descriptions:

Name: Parathyroid Carcinoma 9 10 42 46 11 44 48
Parathyroid Cancer 42 23 44
Malignant Neoplasm of Parathyroid Gland 9 61
Malignant Neoplasm of the Parathyroid 9 61
Malignant Tumor of Parathyroid Gland 9 61
Carcinoma of Parathyroid Gland 9 61
 
Neoplasm of Parathyroid Gland 9 61
Parathyroid Gland Neoplasm 9 61
Parathyroid Gland Adenocarcinoma 61
Parathyroid Gland Cancer 9
Parathyroid Neoplasms 61
Parathyroid Neoplasm 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
parathyroid carcinoma:
Prevalence: 1-9/1000000


External Ids:

Disease Ontology9 DOID:1540
MeSH34 D010282
OMIM46 608266
NCIt39 C3313
ICD10 via Orphanet27 C75.0
ICD1026 C75.0

Related Diseases for Parathyroid Carcinoma

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Diseases in the Parathyroid Carcinoma family:

Cdc73-Related Parathyroid Carcinoma

Diseases related to Parathyroid Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism-jaw tumor syndrome30.9CDC73
2multiple endocrine neoplasia30.7CDC73, MEN1
3hyperparathyroidism30.6CDC73, CASR, MEN1, PTH
4familial isolated hyperparathyroidism30.4MEN1, CDC73
5hypercalcemia30.3PTH, MEN1, CASR, CDC73
6papillary thyroid carcinoma30.3CCND1, MEN1
7primary hyperparathyroidism30.3PTH, MEN1, CASR, CDC73
8osteitis fibrosa30.1CASR, PTH
9adenoma30.0PTH, MEN1, CCND1, CASR, CDC73
10parathyroid adenoma30.0CDC73, PTH, MEN1, CCND1, CASR
11hypothyroidism29.9PTH, CASR
12multiple endocrine neoplasia type 2a29.9CDC73, MEN1, PTH
13mediastinitis10.6
14thyroiditis10.5
15parathyroid cancer, childhood10.3
16pancreatitis10.2
17acute pancreatitis10.2
18cdc73-related parathyroid carcinoma10.2
19wermer syndrome10.1CDC73, MEN1
20thyroid hurthle cell carcinoma10.0PTH, CCND1
21rickets10.0CASR, PTH
22pancreatic cancer10.0CCND1, MEN1
23renal osteodystrophy10.0PTH, CASR
24calcinosis10.0CASR, PTH
25ollier disease10.0
26birt-hogg-dube syndrome10.0
27hyperphosphatemia10.0CASR, PTH
28hypoparathyroidism10.0PTH, CASR
29bone fracture10.0
30hepatitis10.0
31hypertension10.0
32polymyalgia rheumatica10.0
33neurofibromatosis10.0
34polycythemia vera10.0
35cerebritis10.0
36ophthalmoplegia10.0
37polycythemia10.0
38pulmonary embolism10.0
39retinoblastoma10.0
40thyroid cancer10.0
41pituitary tumors10.0
42primary parathyroids hyperplasia10.0
43osteomalacia10.0CASR, PTH
44nephrolithiasis10.0CASR, PTH
45secondary syphilis10.0PTH, CASR
46gastrinoma10.0CASR, MEN1
47thyroid medullary carcinoma9.9MEN1, CASR
48insulinoma9.9CASR, MEN1
49primary hyperoxaluria9.9PTH, CASR
50pituitary adenoma9.8CASR, MEN1

Graphical network of the top 20 diseases related to Parathyroid Carcinoma:



Diseases related to parathyroid carcinoma

Symptoms for Parathyroid Carcinoma

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Clinical features from OMIM:

608266

HPO human phenotypes related to Parathyroid Carcinoma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperparathyroidism HP:0000843
3 somatic mutation HP:0001428
4 hypercalcemia HP:0003072
5 parathyroid carcinoma HP:0006780

Drugs & Therapeutics for Parathyroid Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Parathyroid Carcinoma

Search NIH Clinical Center for Parathyroid Carcinoma

Genetic Tests for Parathyroid Carcinoma

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Genetic tests related to Parathyroid Carcinoma:

id Genetic test Affiliating Genes
1 Parathyroid Carcinoma23

Anatomical Context for Parathyroid Carcinoma

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MalaCards organs/tissues related to Parathyroid Carcinoma:

32
Bone, Thyroid, Lung, Liver, Lymph node, Thymus, Brain, Pancreas, Breast, Testes, Pituitary

FMA organs/tissues related to Parathyroid Carcinoma:

15
The parathyroid gl

Animal Models for Parathyroid Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Parathyroid Carcinoma:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CDC73, CASR, MEN1
2MP:00053828.5PTH, MEN1, CCND1
3MP:00053858.4CDC73, CCND1, MEN1, PTH
4MP:00053818.2CDC73, CASR, CCND1, MEN1
5MP:00053978.2PTH, CCND1, CASR, CDC73
6MP:00053848.0CDC73, CASR, CCND1, MEN1
7MP:00053797.8CDC73, CASR, CCND1, MEN1, PTH
8MP:00053877.8PTH, MEN1, CCND1, CASR, CDC73
9MP:00053787.7PTH, MEN1, CCND1, CASR, CDC73
10MP:00053767.7PTH, MEN1, CCND1, CASR, CDC73
11MP:00107687.6PTH, MEN1, CCND1, CASR, CDC73

Publications for Parathyroid Carcinoma

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Articles related to Parathyroid Carcinoma:

(show top 50)    (show all 451)
idTitleAuthorsYear
1
Metastatic parathyroid carcinoma treated with radiofrequency ablation: A novel therapeutic modality. (25324902)
2014
2
Parathyroid carcinoma. (24742584)
2014
3
Parathyroid carcinoma in a 30-year-old man: a diagnostic and management challenge. (23566353)
2013
4
Parathyroid Carcinoma in the Setting of Tertiary Hyperparathyroidism after Renal Transplant. (24234965)
2013
5
Parathyroid carcinoma: a review. (20310041)
2011
6
Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients. (21717873)
2011
7
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. (19926710)
2010
8
A rare presentation in a case of parathyroid carcinoma. (19810371)
2009
9
Synchronous parathyroid carcinoma, parathyroid adenoma, and papillary thyroid carcinoma in a patient with severe and long-standing hyperparathyroidism. (19491068)
2009
10
Parathyroid carcinoma with anaplastic feature: association of a p53 gene mutation with anaplastic transformation. (19154265)
2009
11
Non-functional parathyroid carcinoma: a review of the literature and report of a case requiring extensive surgery. (19644546)
2009
12
Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinoma. (19041002)
2008
13
Parathyroid carcinoma and neurofibromatosis. (19081027)
2008
14
Radiofrequency ablation of functioning lung metastases from parathyroid carcinoma. (18295712)
2008
15
Ectopic mediastinal parathyroid carcinoma as a cause of dialysis-dependent renal failure. (17922734)
2007
16
Multiglandular parathyroid carcinoma: a case report and brief review. (17713315)
2007
17
Parathyroid carcinoma. (16977824)
2006
18
Parathyroid carcinoma. (16237743)
2005
19
Parathyroid carcinoma]. (16444365)
2005
20
Parathyroid carcinoma: ultrasonographic and histologic features. (16053394)
2005
21
Bilateral synchronous parathyroid carcinoma in a patient on long-term hemodialysis: presentation of a rare clinical case and review literature. (15912894)
2005
22
Providing optimal preoperative localization for recurrent parathyroid carcinoma: a combined parathyroid scintigraphy and computed tomography approach. (15483477)
2004
23
Parathyroid carcinoma: a multicenter review of clinicopathologic features and treatment outcomes. (15372923)
2004
24
Nonfunctional parathyroid carcinoma. (11491274)
2001
25
Occult parathyroid carcinoma in a patient with papillary thyroid carcinoma and Hashimoto's thyroiditis. (11227731)
2001
26
Hyperfunctioning parathyroid carcinoma. (10741503)
2000
27
Control of hypercalcaemia of parathyroid carcinoma by immunisation. (9950443)
1999
28
Detection of metastatic parathyroid carcinoma with Tc-99m sestamibi imaging. (9890488)
1999
29
Parathyroid carcinoma in a patient receiving long-term hemodialysis. (10026762)
1999
30
Cytologic characteristics of parathyroid carcinoma: a case report. (9523137)
1998
31
Primary hyperparathyroidism due to parathyroid carcinoma. (9204627)
1997
32
Parathyroid carcinoma: the relationship of nuclear DNA content to clinical outcome. (8441964)
1993
33
Surgical and medical management of patients with pulmonary metastasis from parathyroid carcinoma. (8256207)
1993
34
Immunohistological study of nonfunctional parathyroid carcinoma. Report of a case. (1609615)
1992
35
Parathyroid carcinoma. Report of three cases. (1311997)
1992
36
Intravenous pamidronic acid in hypercalcemia due to parathyroid carcinoma. (1820495)
1991
37
Parathyroid carcinoma in a chronic hemodialysis patient. (2739858)
1989
38
Parathyroid carcinoma of the oxyphil cell type. A report of two cases, light and electron microscopic study. (3978540)
1985
39
Successful combination chemotherapy for metastatic parathyroid carcinoma. (6696578)
1984
40
Case report: clinical pathological correlations in a case of primary parathyroid carcinoma. (6239588)
1984
41
Cytologic features of a functioning parathyroid carcinoma: a case report. (6959463)
1982
42
Parathyroid carcinoma: a review of 62 patients. (7044770)
1982
43
Light and electron microscopic investigation of parathyroid carcinoma during dedifferentiation. Survey and study of a case. (7445424)
1980
44
Parathyroid carcinoma with tracheal invasion and airway obstruction. (7350715)
1980
45
Case reports: Hypercalcemic crisis in parathyroid carcinoma. (264588)
1977
46
Parathyroid carcinoma. A study of 70 cases. (4693587)
1973
47
Light and electron microscopy of parathyroid carcinoma. Report of three cases. (4200384)
1973
48
Recurrent hyperparathyroidism due to parathyroid carcinoma. (4107487)
1971
49
Production of parathyroid hormone by metastatic parathyroid carcinoma. (4971184)
1968
50
Parathyroid carcinoma associated with acute parathyroid intoxication. (18125449)
1949

Variations for Parathyroid Carcinoma

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Clinvar genetic disease variations for Parathyroid Carcinoma:

7
id Gene Name Type Significance SNP ID Assembly Location
1CDC73NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs)deletionPathogenicrs80356650GRCh37Chr 1, 193117033: 193117034
2CDC73NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs)insertionPathogenicrs80356649GRCh37Chr 1, 193111146: 193111147
3CDC73NM_024529.4(CDC73): c.128G> A (p.Trp43Ter)single nucleotide variantPathogenicrs121434263GRCh37Chr 1, 193091458: 193091458
4CDC73NM_024529.4(CDC73): c.162C> G (p.Tyr54Ter)single nucleotide variantPathogenicrs121434265GRCh37Chr 1, 193094272: 193094272
5CDC73CDC73, 1-BP INS, 373AinsertionPathogenic
6CDC73CDC73, 4-BP DEL, 685AGAGdeletionPathogenic
7CDC73NM_024529.4(CDC73): c.85delG (p.Glu29Serfs)deletionPathogenicGRCh37Chr 1, 193091415: 193091415
8CDC73NM_024529.4(CDC73): c.13_30del18 (p.Leu5_Gln10del)deletionPathogenicGRCh37Chr 1, 193091343: 193091360

Expression for genes affiliated with Parathyroid Carcinoma

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Expression patterns in normal tissues for genes affiliated with Parathyroid Carcinoma

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Pathways for genes affiliated with Parathyroid Carcinoma

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Pathways related to Parathyroid Carcinoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CDC73, CCND1
29.4CCND1, PTH
3
Show member pathways
Cell cycle37
9.3CCND1, MEN1
4
Show member pathways
8.0PTH, MEN1, CCND1, CASR

Compounds for genes affiliated with Parathyroid Carcinoma

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Compounds related to Parathyroid Carcinoma according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1ag 1478449.6CCND1, PTH
2carbachol44 29 1211.5PTH, CCND1
3bromodeoxyuridine449.4PTH, CCND1
4pamidronate44 50 1211.4PTH, CASR
525-hydroxyvitamin d449.4PTH, CASR
6phosphorus449.4PTH, CASR
71,25 dihydroxy vitamin d3449.2CASR, PTH
8ribonucleic acid449.1CASR, PTH
9thymidine44 2510.1CCND1, MEN1, PTH
10inositol 1,4,5 trisphosphate449.0CASR, PTH
11vegf449.0PTH, MEN1, CCND1
12calcitriol44 60 25 1211.8CASR, PTH
13adenylate448.8PTH, CCND1, CASR
14vitamin d448.8CASR, MEN1, PTH
15estrogen448.3CASR, CCND1, MEN1, PTH
16tyrosine448.2CASR, CCND1, MEN1, PTH

GO Terms for genes affiliated with Parathyroid Carcinoma

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Biological processes related to Parathyroid Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to ethanolGO:0454719.3PTH, CCND1
2cellular response to DNA damage stimulusGO:0069749.3CCND1, MEN1
3cellular calcium ion homeostasisGO:0068749.1CASR, PTH
4positive regulation of transcription from RNA polymerase II promoterGO:0459448.6CDC73, MEN1, PTH
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.4CDC73, CCND1, MEN1, PTH

Products for genes affiliated with Parathyroid Carcinoma

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Sources for Parathyroid Carcinoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet