MCID: PRT010
MIFTS: 62

Parathyroid Carcinoma malady

Genetic diseases, Rare diseases, Cancer diseases, Endocrine diseases categories
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Summaries for Parathyroid Carcinoma

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Parathyroid carcinoma is a rare malignant neoplasm resulting in parathyroid adenoma to carcinoma... more...

MalaCards: Parathyroid Carcinoma, also known as parathyroid cancer, is related to hyperparathyroidism and adenoma. 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:8 An endocrine gland cancer located in the parathyroid glands located in the neck.

Description from OMIM:47 608266

Aliases & Classifications for Parathyroid Carcinoma

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
parathyroid carcinoma:
Prevalence: 1-9/1000000


Aliases & Descriptions:

parathyroid carcinoma 8 9 43 47 10 45 49
parathyroid cancer 43 22 45
malignant tumor of parathyroid gland 8 62
malignant neoplasm of parathyroid gland 8
malignant neoplasm of the parathyroid 8
parathyroid gland adenocarcinoma 62
carcinoma of parathyroid gland 8
neoplasm of parathyroid gland 8
parathyroid gland neoplasm 8
parathyroid gland cancer 8
parathyroid neoplasms 62
parathyroid neoplasm 8


External Ids:

Disease Ontology8 DOID:1540
NCIt40 C3313
MeSH35 D010282
OMIM47 608266
ICD10 via Orphanet26 C75.0
SNOMED-CT via Orphanet59 255037004
ICD1025 C75.0

Related Diseases for Parathyroid Carcinoma

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Sources:
17GeneCards, 18GeneDecks
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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.1CDC73, CASR, MEN1, PTH
2adenoma30.7PTH, MEN1, CCND1, CASR, CDC73
3primary hyperparathyroidism30.7PTH, MEN1, CASR, CDC73
4hypercalcemia30.7PTH, MEN1, CASR, CDC73
5parathyroid adenoma30.6CDC73, PTH, MEN1, CCND1, CASR
6multiple endocrine neoplasia30.5CDC73, MEN1
7hyperparathyroidism-jaw tumor syndrome30.4CDC73
8papillary thyroid carcinoma30.2CCND1, MEN1
9familial isolated hyperparathyroidism30.2MEN1, CDC73
10thyroid cancer30.0PTH, CCND1
11osteitis fibrosa30.0CASR, PTH
12hypothyroidism30.0PTH, CASR
13mediastinitis10.6
14thyroiditis10.4
15parathyroid cancer, childhood10.3
16pancreatitis10.2
17acute pancreatitis10.1
18cdc73-related parathyroid carcinoma10.1
19wermer syndrome10.0CDC73, MEN1
20ollier disease10.0
21birt-hogg-dube syndrome10.0
22rickets10.0CASR, PTH
23pancreatic cancer10.0CCND1, MEN1
24renal osteodystrophy10.0PTH, CASR
25calcinosis10.0CASR, PTH
26hyperphosphatemia10.0CASR, PTH
27hypoparathyroidism10.0PTH, CASR
28osteomalacia10.0CASR, PTH
29nephrolithiasis10.0CASR, PTH
30bone fracture10.0
31neurofibromatosis10.0
32polycythemia vera10.0
33polymyalgia rheumatica10.0
34cerebritis10.0
35hepatitis10.0
36hypertension10.0
37ophthalmoplegia10.0
38polycythemia10.0
39pulmonary embolism10.0
40retinoblastoma10.0
41pituitary tumors10.0
42primary parathyroids hyperplasia10.0
43secondary syphilis10.0PTH, CASR
44gastrinoma10.0CASR, MEN1
45thyroid medullary carcinoma10.0MEN1, CASR
46multiple endocrine neoplasia type 2a10.0CDC73, MEN1, PTH
47insulinoma10.0CASR, MEN1
48primary hyperoxaluria10.0PTH, CASR
49pituitary adenoma9.9CASR, MEN1
50secondary hyperparathyroidism of renal origin9.9PTH, MEN1, CASR

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



Diseases related to parathyroid carcinoma

Symptoms for Parathyroid Carcinoma

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47OMIM
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Clinical features from OMIM:

608266

Drugs & Therapeutics for Parathyroid Carcinoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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Genetic tests related to Parathyroid Carcinoma:

id Genetic test Affiliating Genes
1 Parathyroid Carcinoma22

Anatomical Context for Parathyroid Carcinoma

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33MalaCards, 14FMA
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MalaCards organs/tissues related to Parathyroid Carcinoma:

33
Bone, Thyroid, Lung, Liver, Pancreas, Breast, Thymus, Testes, Lymph node, Brain, Pituitary

FMA organs/tissues related to Parathyroid Carcinoma:

14
The parathyroid gl

Animal Models for Parathyroid Carcinoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Parathyroid Carcinoma:

37 (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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52PubMed
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Articles related to Parathyroid Carcinoma:

(show top 50)    (show all 437)
idTitleAuthorsYear
1
Parathyroid carcinoma in a 30-year-old man: a diagnostic and management challenge. (23566353)
2013
2
Parathyroid Carcinoma in the Setting of Tertiary Hyperparathyroidism after Renal Transplant. (24234965)
2013
3
Parathyroid carcinoma: a review. (20310041)
2011
4
Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients. (21717873)
2011
5
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. (19926710)
2010
6
A rare presentation in a case of parathyroid carcinoma. (19810371)
2009
7
Synchronous parathyroid carcinoma, parathyroid adenoma, and papillary thyroid carcinoma in a patient with severe and long-standing hyperparathyroidism. (19491068)
2009
8
Parathyroid carcinoma with anaplastic feature: association of a p53 gene mutation with anaplastic transformation. (19154265)
2009
9
Non-functional parathyroid carcinoma: a review of the literature and report of a case requiring extensive surgery. (19644546)
2009
10
High third generation/second generation PTH ratio in a patient with parathyroid carcinoma: clinical utility of third generation/second generation PTH ratio in patients with primary hyperparathyroidism. (18782355)
2009
11
Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinoma. (19041002)
2008
12
Parathyroid carcinoma and neurofibromatosis. (19081027)
2008
13
Radiofrequency ablation of functioning lung metastases from parathyroid carcinoma. (18295712)
2008
14
Ectopic mediastinal parathyroid carcinoma as a cause of dialysis-dependent renal failure. (17922734)
2007
15
Multiglandular parathyroid carcinoma: a case report and brief review. (17713315)
2007
16
Parathyroid carcinoma. (16977824)
2006
17
Parathyroid carcinoma. (16237743)
2005
18
Parathyroid carcinoma]. (16444365)
2005
19
Parathyroid carcinoma: ultrasonographic and histologic features. (16053394)
2005
20
Bilateral synchronous parathyroid carcinoma in a patient on long-term hemodialysis: presentation of a rare clinical case and review literature. (15912894)
2005
21
Providing optimal preoperative localization for recurrent parathyroid carcinoma: a combined parathyroid scintigraphy and computed tomography approach. (15483477)
2004
22
Parathyroid carcinoma: a multicenter review of clinicopathologic features and treatment outcomes. (15372923)
2004
23
Nonfunctional parathyroid carcinoma. (11491274)
2001
24
Occult parathyroid carcinoma in a patient with papillary thyroid carcinoma and Hashimoto's thyroiditis. (11227731)
2001
25
Hyperfunctioning parathyroid carcinoma. (10741503)
2000
26
Control of hypercalcaemia of parathyroid carcinoma by immunisation. (9950443)
1999
27
Detection of metastatic parathyroid carcinoma with Tc-99m sestamibi imaging. (9890488)
1999
28
Parathyroid carcinoma in a patient receiving long-term hemodialysis. (10026762)
1999
29
Parathyroid carcinoma: sixteen new cases and suggestions for correct management. (9841748)
1998
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Parathyroid Carcinoma:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parathyroid Carcinoma

Search GEO for disease gene expression data for Parathyroid Carcinoma.

Pathways for genes affiliated with Parathyroid Carcinoma

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50PathCards, 5Cell Signaling Technology, 60Thomson Reuters, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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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 cycle38
9.3CCND1, MEN1
4
Show member pathways
8.0PTH, MEN1, CCND1, CASR

Compounds for genes affiliated with Parathyroid Carcinoma

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Parathyroid Carcinoma according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1ag 1478459.6CCND1, PTH
2carbachol45 29 1111.5PTH, CCND1
3bromodeoxyuridine459.4PTH, CCND1
4pamidronate45 51 1111.4PTH, CASR
525-hydroxyvitamin d459.4PTH, CASR
6phosphorus459.4PTH, CASR
71,25 dihydroxy vitamin d3459.2CASR, PTH
8ribonucleic acid459.1CASR, PTH
9thymidine45 2410.1CCND1, MEN1, PTH
10inositol 1,4,5 trisphosphate459.0CASR, PTH
11vegf459.0PTH, MEN1, CCND1
12calcitriol45 61 24 1111.8CASR, PTH
13adenylate458.8PTH, CCND1, CASR
14vitamin d458.8CASR, MEN1, PTH
15estrogen458.3CASR, CCND1, MEN1, PTH
16tyrosine458.2CASR, CCND1, MEN1, PTH

GO Terms for genes affiliated with Parathyroid Carcinoma

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16Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parathyroid Carcinoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet