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PRTC
MCID: PRT010
MIFTS: 64

Parathyroid Carcinoma (PRTC)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Parathyroid Carcinoma

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MalaCards integrated aliases for Parathyroid Carcinoma:

Name: Parathyroid Carcinoma 57 12 53 25 59 75 37 29 13 55 6 15
Parathyroid Neoplasms 25 55 44 73
Parathyroid Cancer 76 53 25 55
Malignant Tumor of Parathyroid Gland 12 25 73
Malignant Neoplasm of Parathyroid Gland 12 25
Neoplasm of the Parathyroid Gland 29 6
Parathyroid Gland Adenocarcinoma 12 73
Carcinoma of Parathyroid Gland 12 25
Parathyroid Gland Cancer 12 25
Parathyroid Neoplasm 12 76
Prtc 57 75
Malignant Neoplasm of the Parathyroid 12
Malignant Parathyroid Gland Neoplasm 25
Malignant Neoplasm of Parathyroid 25
Malignant Parathyroid Gland Tumor 25
Cancer of the Parathyroid Gland 25
Malignant Parathyroid Neoplasm 25
Malignant Tumor of Parathyroid 25
Neoplasm of Parathyroid Gland 12
Malignant Parathyroid Tumor 25
Parathyroid Gland Carcinoma 25
Parathyroid Gland Neoplasm 12
Parathyroid Adenocarcinoma 25
Cancer of the Parathyroid 25
Carcinoma, Parathyroid 40

Characteristics:

Orphanet epidemiological data:

59
parathyroid carcinoma
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe),<1/1000000 (United States); Age of onset: Adult; Age of death: adult,elderly;

HPO:

32
parathyroid carcinoma:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Endocrine diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare endocrine diseases


Sources

Summaries for Parathyroid Carcinoma

About this section
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 143Disease definitionParathyroid carcinoma (PRTC) is 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Parathyroid Carcinoma, also known as parathyroid neoplasms, is related to osteitis fibrosa and hyperparathyroidism 2 with jaw tumors. An important gene associated with Parathyroid Carcinoma is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Neuroscience and Hepatitis C and Hepatocellular Carcinoma. The drugs Sensipar and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and lung, and related phenotypes are muscle weakness and dysphagia

Disease Ontology : 12 An endocrine gland cancer located in the parathyroid glands located in the neck.

Genetics Home Reference : 25 Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood.

UniProtKB/Swiss-Prot : 75 Parathyroid carcinoma: These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.

Wikipedia : 76 Parathyroid carcinoma is a rare malignant neoplasm resulting in parathyroid adenoma to carcinoma... more...

Description from OMIM: 608266
Sources

Related Diseases for Parathyroid Carcinoma

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 osteitis fibrosa 31.7 CALCA CASR PTH
2 hyperparathyroidism 2 with jaw tumors 31.4 CASR CCND1 CDC73 MEN1 RET
3 hyperparathyroidism 30.0 CALCA CASR CDC73 MEN1 PTH RET
4 multiple endocrine neoplasia 29.9 CALCA MEN1 RET
5 adenoma 29.8 CASR CCND1 CDC73 MEN1 RET
6 secondary hyperparathyroidism of renal origin 29.8 CALCA CASR PTH
7 thyroiditis 29.7 CALCA RET
8 bone resorption disease 29.6 CALCA PTH
9 chronic kidney failure 29.6 CALCA CASR PTH
10 bone disease 29.6 CALCA CASR PTH
11 primary hyperparathyroidism 29.5 CALCA CASR CCND1 CDC73 MEN1 PTH
12 multiple endocrine neoplasia, type i 29.4 CASR CDC73 MEN1 PTH RET
13 papillary carcinoma 29.4 CALCA LGALS3 RET
14 parathyroid adenoma 29.3 CALCA CASR CCND1 CDC73 MEN1 PTH
15 thyroid cancer 29.2 CALCA CCND1 LGALS3 RET
16 familial isolated hyperparathyroidism 29.1 CASR CDC73 MEN1 PTH RET
17 multiple endocrine neoplasia, type iia 28.9 CALCA CDC73 MEN1 PTH RET
18 parathyroid cancer, childhood 12.1
19 fibrogenesis imperfecta ossium 10.2 CALCA PTH
20 hypocalciuric hypercalcemia, familial, type i 10.2 CASR PTH
21 hypocalciuric hypercalcemia, familial, type iii 10.2 CASR PTH
22 hypocalciuric hypercalcemia, familial, type ii 10.1 CASR PTH
23 connective tissue benign neoplasm 10.1 CDC73 PTH
24 hypoparathyroidism, familial isolated 10.1 CASR PTH
25 calciphylaxis 10.1 CASR PTH
26 hypophosphatasia, adult 10.1 CALCA PTH
27 periodontitis 10.1
28 cloacogenic carcinoma 10.1 CALCA PTH
29 phosphorus metabolism disease 10.1 CASR PTH
30 burn scar 10.1 CALCA UCHL1
31 osteoporosis, juvenile 10.1 CALCA PTH
32 glucocorticoid-induced osteoporosis 10.1 CALCA PTH
33 nemaline myopathy 2 10.1 CALCA RET
34 metaphyseal chondrodysplasia, jansen type 10.1 CALCA PTH
35 fetal adenoma 10.1 CALCA LGALS3
36 metal metabolism disorder 10.1 CASR PTH
37 familial hypocalciuric hypercalcemia 10.1 CASR CDC73 PTH
38 fanconi-like syndrome 10.1 CASR LGALS3
39 lichen nitidus 10.0 RET UCHL1
40 hypercalcemia, infantile, 1 10.0 CALCA CASR PTH
41 renal osteodystrophy 10.0 CALCA CASR PTH
42 mineral metabolism disease 10.0 CALCA CASR PTH
43 hypocalcemia, autosomal dominant 1 10.0 CALCA CASR PTH
44 osteomalacia 10.0 CALCA CASR PTH
45 malignant pheochromocytoma 10.0 CALCA LGALS3
46 hyperphosphatemia 10.0 CASR PTH
47 hyperparathyroidism 1 10.0 CDC73 MEN1
48 pancreatic somatostatinoma 10.0 CALCA MEN1
49 bone remodeling disease 10.0 CALCA PTH
50 malignant struma ovarii 10.0 LGALS3 RET

Comorbidity relations with Parathyroid Carcinoma via Phenotypic Disease Network (PDN):


Hyperparathyroidism

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



Diseases related to Parathyroid Carcinoma
Sources

Symptoms & Phenotypes for Parathyroid Carcinoma

About this section

Clinical features from OMIM:

608266

Human phenotypes related to Parathyroid Carcinoma:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
4 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
5 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
6 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
7 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
8 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
9 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
10 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
11 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
12 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
13 fibroma 59 32 frequent (33%) Frequent (79-30%) HP:0010614
14 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
15 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
16 hypercalcemia 59 32 Obligate (100%) HP:0003072
17 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
18 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
19 peptic ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0004398
20 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
21 hoarse voice 59 32 frequent (33%) Frequent (79-30%) HP:0001609
22 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
23 pancreatic adenocarcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006725
24 lipoma 59 32 very rare (1%) Very rare (<4-1%) HP:0012032
25 testicular neoplasm 59 32 very rare (1%) Very rare (<4-1%) HP:0010788
26 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
27 nephroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002667
28 thyroid carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002890
29 renal cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000107
30 uterine leiomyoma 59 32 frequent (33%) Frequent (79-30%) HP:0000131
31 parathyroid carcinoma 59 32 obligate (100%) Obligate (100%) HP:0006780
32 mandibular pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0200025
33 infantile hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0008250
34 primary hyperparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008200
35 shortened qt interval 59 32 frequent (33%) Frequent (79-30%) HP:0012232
36 renal hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0008696
37 hyperparathyroidism 32 HP:0000843
38 abnormality of the parathyroid morphology 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Parathyroid Carcinoma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 CCND1 CDC73 LGALS3 MEN1 PTH RET
2 growth/size/body region MP:0005378 10.08 CASR CCND1 CDC73 LGALS3 MEN1 PTH
3 cellular MP:0005384 10.07 CASR CCND1 CDC73 LGALS3 MEN1 PTH
4 digestive/alimentary MP:0005381 10.05 CASR CCND1 CDC73 LGALS3 MEN1 RET
5 homeostasis/metabolism MP:0005376 10.03 CASR CCND1 CDC73 LGALS3 MEN1 PTH
6 hematopoietic system MP:0005397 10 CASR CCND1 CDC73 LGALS3 PTH RET
7 endocrine/exocrine gland MP:0005379 9.97 CASR CCND1 CDC73 MEN1 PTH RET
8 immune system MP:0005387 9.95 CASR CCND1 CDC73 LGALS3 MEN1 PTH
9 mortality/aging MP:0010768 9.92 CASR CCND1 CDC73 LGALS3 MEN1 PTH
10 integument MP:0010771 9.77 CASR CCND1 CDC73 LGALS3 UCHL1
11 neoplasm MP:0002006 9.65 CCND1 CDC73 LGALS3 MEN1 RET
12 renal/urinary system MP:0005367 9.55 CASR CDC73 LGALS3 RET UCHL1
13 respiratory system MP:0005388 9.35 CCND1 CDC73 LGALS3 RET UCHL1
14 skeleton MP:0005390 9.1 CASR CCND1 CDC73 LGALS3 PTH UCHL1
Sources

Drugs & Therapeutics for Parathyroid Carcinoma

About this section

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Sensipar 18 CINACALCET HYDROCHLORIDE Amgen March 2004

Drugs for Parathyroid Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
2 Hormone Antagonists Phase 4,Phase 3
3 Hormones Phase 4,Phase 3
4 Cinacalcet Hydrochloride Phase 4,Phase 3
5 Calcimimetic Agents Phase 4,Phase 3
6
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
7
Indinavir Approved Phase 2 150378-17-9 5362440
8
Nivolumab Approved Phase 2 946414-94-4
9 Anti-HIV Agents Phase 2
10 HIV Protease Inhibitors Phase 2
11 Liver Extracts Phase 2,Phase 1
12 Cytochrome P-450 Enzyme Inhibitors Phase 2
13 Antiviral Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Anti-Retroviral Agents Phase 2
16
protease inhibitors Phase 2
17 Cytochrome P-450 CYP3A Inhibitors Phase 2
18 Cola Phase 2,Phase 1
19 Immunoglobulins Phase 2
20 Immunologic Factors Phase 2,Phase 1
21 Antibodies, Monoclonal Phase 2
22 Antibodies Phase 2
23
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
24
Dacarbazine Approved, Investigational Phase 1 4342-03-4 5351166
25
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
26
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
27
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
28 Pancreatic Polypeptide Investigational Phase 1 59763-91-6
29
tipifarnib Investigational Phase 1 192185-72-1 159324
30
Entinostat Investigational Phase 1 209783-80-2
31 Angiogenesis Inhibitors Phase 1
32 Antineoplastic Agents, Phytogenic Phase 1
33 Albumin-Bound Paclitaxel Phase 1
34 Interleukin-12 Phase 1
35 Adjuvants, Immunologic Phase 1
36 Angiogenesis Modulating Agents Phase 1
37 Antimitotic Agents Phase 1
38 Histone Deacetylase Inhibitors Phase 1
39
Gefitinib Approved, Investigational Not Applicable 184475-35-2 123631
40 Protein Kinase Inhibitors Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer Completed NCT00037518 Phase 4 AMG 073
2 An Intra-individual Titration Study of KRN1493 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism Completed NCT01460030 Phase 3 Cinacalcet HCl
3 Phase 3 Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Active, not recruiting NCT03280264 Phase 3 KHK7580
4 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
5 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
6 Safety Study of Dacarbazine and Bortezomib in Melanoma and Soft Tissue Sarcoma Completed NCT00580320 Phase 1 Dacarbazine and bortezomib
7 Interleukin-12 and Trastuzumab in Treating Patients With Cancer That Has High Levels of HER2/Neu Completed NCT00004074 Phase 1
8 NGR-TNF in Treating Patients With Advanced Solid Tumors Completed NCT00098943 Phase 1
9 Trastuzumab Plus R115777 in Treating Patients With Advanced or Metastatic Cancer Completed NCT00005842 Phase 1 tipifarnib
10 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1 entinostat
11 Parathyroid Cancer Versus Atypical Parathyroid Neoplasm; Investigating Their Clinical Characteristics and Biological Behavior Completed NCT03046524
12 Gefitinib in Treating Patients With Metastatic or Unresectable Head and Neck Cancer or Non-Small Cell Lung Cancer Completed NCT00068497 Not Applicable gefitinib

Search NIH Clinical Center for Parathyroid Carcinoma

Cochrane evidence based reviews: parathyroid neoplasms

Sources

Genetic Tests for Parathyroid Carcinoma

About this section

Genetic tests related to Parathyroid Carcinoma:

# Genetic test Affiliating Genes
1 Parathyroid Carcinoma 29 CDC73
2 Neoplasm of the Parathyroid Gland 29
Sources

Anatomical Context for Parathyroid Carcinoma

About this section

MalaCards organs/tissues related to Parathyroid Carcinoma:

41
Bone, Thyroid, Lung, Lymph Node, Brain, Kidney, Colon

The Foundational Model of Anatomy Ontology organs/tissues related to Parathyroid Carcinoma:

19
The Parathyroid Gl
Sources

Publications for Parathyroid Carcinoma

About this section

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 589)
# Title Authors Year
1
Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review. ( 29922966 )
2018
2
Subchondral Bone Restoration of Supra-acetabular Brown Tumor Secondary to Parathyroid Carcinoma: A Case Report. ( 29896462 )
2018
3
Verification of candidate microRNA markers for parathyroid carcinoma. ( 29453660 )
2018
4
Role of calcium-sensing receptor, Galectin-3, Cyclin D1, and Ki-67 immunohistochemistry to favor in the diagnosis of parathyroid carcinoma. ( 29567879 )
2018
5
The use of PET/CT in pregnancy: A case report of malignant parathyroid carcinoma and a review of the literature. ( 29636815 )
2018
6
Parathyroid carcinoma: From a case report to a review of the literature. ( 29353223 )
2018
7
Tumor Size and Presence of Metastatic Disease at Diagnosis are Associated with Disease-Specific Survival in Parathyroid Carcinoma. ( 29971678 )
2018
8
Cytological challenges in the diagnosis of intrathyroidal parathyroid carcinoma: A case report and review of literature. ( 29076656 )
2018
9
Nonfunctioning parathyroid carcinoma associated with parathyromatosis. A case report. ( 29631411 )
2018
10
An Unusual Case of Meningioma Showing Increased CaSR Expression with Parathyroid Carcinoma. ( 29388399 )
2018
11
Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review. ( 30198445 )
2018
12
Spontaneous bilateral quadriceps tendon rupture revealing a parathyroid carcinoma. ( 28115266 )
2018
13
Utility of 99mTc-Sestamibi SPECT/CT in the Early Localization of Metastatic Parathyroid Carcinoma. ( 29998152 )
2018
14
Case report: lady with bone pains for 5 years-parathyroid carcinoma. ( 30157930 )
2018
15
18F-Choline-PET in parathyroid carcinoma. ( 30274770 )
2018
16
99mTc-MIBI single photon emission computed tomography/computed tomography for the incidental detection of rare parathyroid carcinoma. ( 30290620 )
2018
17
Radial Fracture Due to Parathyroid Carcinoma. ( 30304649 )
2018
18
ASO Author Reflections: Parathyroid Carcinoma-Setting the Stage for Prognosis. ( 30306369 )
2018
19
Parathyroid carcinoma. A single Institution experience and a review of the international literature. ( 30337503 )
2018
20
Parathyroid carcinoma. A single Institution experience and a review of the international literature. ( 30337508 )
2018
21
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation. ( 30361844 )
2018
22
Genomic Profiling of Parathyroid Carcinoma Reveals Genomic Alterations Suggesting Benefit from Therapy. ( 30373905 )
2018
23
Profiling analysis of long non-coding RNA and mRNA in parathyroid carcinoma. ( 30403657 )
2018
24
Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion. ( 30455668 )
2018
25
Parathyroid carcinoma. ( 30551989 )
2018
26
Epigenetic processes in sporadic parathyroid neoplasms. ( 28400272 )
2018
27
The diagnostic accuracy of neck ultrasound, 4D-Computed tomographyand sestamibi imaging in parathyroid carcinoma. ( 28987702 )
2017
28
Simultaneous Incidental Parathyroid Carcinoma and Intrathyroid Parathyroid Gland in Suspected Renal Failure Induced Hyperparathyroidism. ( 28825015 )
2017
29
[Parathyroid carcinoma: about a case and review of the literature]. ( 28819506 )
2017
30
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma. ( 28566413 )
2017
31
Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases. ( 28458892 )
2017
32
Parathyroid carcinoma: an unusual presentation of a rare neoplasm. ( 29354025 )
2017
33
A role for TET2 in parathyroid carcinoma. ( 28642344 )
2017
34
Synchronous parathyroid carcinoma and papillary thyroid carcinoma in a patient with long-standing schizophrenia. ( 29032667 )
2017
35
Pathological bone fractures in a patient with parathyroid carcinoma - A Case Report. ( 29256556 )
2017
36
Giant parathyroid adenoma: differential aspects compared to parathyroid carcinoma. ( 28491324 )
2017
37
<i>MEN1</i> gene mutation with parathyroid carcinoma: first report of a familial case. ( 29097378 )
2017
38
Parathyroid carcinoma in a patient with three prior parathyroid adenomas. ( 28636744 )
2017
39
Super Scan Caused by Parathyroid Carcinoma Observed Both in<sup>18</sup>F-FDG PET/CT Scan and Tc-99m MDP Bone Scintigraphy. ( 28976334 )
2017
40
Denosumab as a long-term palliative therapy in parathyroid carcinoma. ( 28011854 )
2017
41
Parathyroid carcinoma: a clinical and genetic perspective. ( 28949121 )
2017
42
Atypical manifestation of parathyroid carcinoma with late-onset distant metastases. ( 29118988 )
2017
43
Clinical characteristics and treatment outcomes of parathyroid carcinoma: A retrospective review of 234 cases. ( 29344163 )
2017
44
Novel association of MEN1 gene mutations with parathyroid carcinoma. ( 28693130 )
2017
45
Postoperative local-regional radiation therapy in the treatment of parathyroid carcinoma: The MD Anderson experience of 35 years. ( 28751227 )
2017
46
The use of cinacalcet hinders the diagnosis of parathyroid carcinoma in a chronic dialysis patient: a case report. ( 29047366 )
2017
47
Denosumab is a long-term option for the management of parathyroid carcinoma-related refractory hypercalcemia. ( 28011856 )
2017
48
A nationwide study on parathyroid carcinoma. ( 28362521 )
2017
49
Prognostic Scoring System to Risk Stratify Parathyroid Carcinoma. ( 28427885 )
2017
50
Nonfunctional double parathyroid carcinoma with incidental thyroid micropapillary carcinoma: a rare case. ( 28979642 )
2017
Sources

Variations for Parathyroid Carcinoma

About this section

ClinVar genetic disease variations for Parathyroid Carcinoma:

6 (show top 50) (show all 473)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
2 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh38 Chromosome 1, 193142016: 193142017
3 CDC73 NM_024529.4(CDC73): c.128G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs121434263 GRCh37 Chromosome 1, 193091458: 193091458
4 CDC73 NM_024529.4(CDC73): c.128G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs121434263 GRCh38 Chromosome 1, 193122328: 193122328
5 CDC73 NM_024529.4(CDC73): c.162C> G (p.Tyr54Ter) single nucleotide variant Pathogenic rs121434265 GRCh37 Chromosome 1, 193094272: 193094272
6 CDC73 NM_024529.4(CDC73): c.162C> G (p.Tyr54Ter) single nucleotide variant Pathogenic rs121434265 GRCh38 Chromosome 1, 193125142: 193125142
7 CDC73 CDC73, 1-BP INS, 373A insertion Pathogenic
8 CDC73 CDC73, 4-BP DEL, 685AGAG deletion Pathogenic
9 CDC73 NM_024529.4(CDC73): c.85delG (p.Glu29Serfs) deletion Pathogenic rs587776560 GRCh37 Chromosome 1, 193091415: 193091415
10 CDC73 NM_024529.4(CDC73): c.85delG (p.Glu29Serfs) deletion Pathogenic rs587776560 GRCh38 Chromosome 1, 193122285: 193122285
11 CDC73 NM_024529.4(CDC73): c.13_30del18 (p.Leu5_Gln10del) deletion Pathogenic rs587776561 GRCh37 Chromosome 1, 193091343: 193091360
12 CDC73 NM_024529.4(CDC73): c.13_30del18 (p.Leu5_Gln10del) deletion Pathogenic rs587776561 GRCh38 Chromosome 1, 193122213: 193122230
13 CDC73 NM_024529.4(CDC73): c.-11G> A single nucleotide variant Benign rs80356643 GRCh37 Chromosome 1, 193091320: 193091320
14 CDC73 NM_024529.4(CDC73): c.-11G> A single nucleotide variant Benign rs80356643 GRCh38 Chromosome 1, 193122190: 193122190
15 CDC73 NM_024529.4(CDC73): c.1066+8T> C single nucleotide variant Likely benign rs80356647 GRCh37 Chromosome 1, 193181238: 193181238
16 CDC73 NM_024529.4(CDC73): c.1066+8T> C single nucleotide variant Likely benign rs80356647 GRCh38 Chromosome 1, 193212108: 193212108
17 CDC73 NM_024529.4(CDC73): c.1418-17C> G single nucleotide variant Benign rs11583414 GRCh37 Chromosome 1, 193218843: 193218843
18 CDC73 NM_024529.4(CDC73): c.1418-17C> G single nucleotide variant Benign rs11583414 GRCh38 Chromosome 1, 193249713: 193249713
19 CDC73 NM_024529.4(CDC73): c.237+28T= single nucleotide variant Benign rs4466634 GRCh37 Chromosome 1, 193094375: 193094375
20 CDC73 NM_024529.4(CDC73): c.237+28T= single nucleotide variant Benign rs4466634 GRCh38 Chromosome 1, 193125245: 193125245
21 CDC73 NM_024529.4(CDC73): c.237+28_237+31delTCTA deletion Benign rs80356645 GRCh37 Chromosome 1, 193094375: 193094378
22 CDC73 NM_024529.4(CDC73): c.237+28_237+31delTCTA deletion Benign rs80356645 GRCh38 Chromosome 1, 193125245: 193125248
23 CDC73 NM_024529.4(CDC73): c.729+50_729+51delAG deletion Benign rs80356646 GRCh37 Chromosome 1, 193111246: 193111247
24 CDC73 NM_024529.4(CDC73): c.729+50_729+51delAG deletion Benign rs80356646 GRCh38 Chromosome 1, 193142116: 193142117
25 CDC73 NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh37 Chromosome 1, 193117033: 193117034
26 CDC73 NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh38 Chromosome 1, 193147903: 193147904
27 CDC73 NM_024529.4(CDC73): c.1304T> C (p.Met435Thr) single nucleotide variant Uncertain significance rs202209013 GRCh37 Chromosome 1, 193202272: 193202272
28 CDC73 NM_024529.4(CDC73): c.1304T> C (p.Met435Thr) single nucleotide variant Uncertain significance rs202209013 GRCh38 Chromosome 1, 193233142: 193233142
29 CDC73 NM_024529.4(CDC73): c.1149C> A (p.Asp383Glu) single nucleotide variant Uncertain significance rs587778167 GRCh37 Chromosome 1, 193181602: 193181602
30 CDC73 NM_024529.4(CDC73): c.1149C> A (p.Asp383Glu) single nucleotide variant Uncertain significance rs587778167 GRCh38 Chromosome 1, 193212472: 193212472
31 CDC73 NM_024529.4(CDC73): c.412C> A (p.Pro138Thr) single nucleotide variant Uncertain significance rs369542555 GRCh37 Chromosome 1, 193104708: 193104708
32 CDC73 NM_024529.4(CDC73): c.412C> A (p.Pro138Thr) single nucleotide variant Uncertain significance rs369542555 GRCh38 Chromosome 1, 193135578: 193135578
33 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh37 Chromosome 1, 193219854: 193219854
34 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh38 Chromosome 1, 193250724: 193250724
35 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh37 Chromosome 1, 193091363: 193091363
36 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh38 Chromosome 1, 193122233: 193122233
37 CDC73 NM_024529.4(CDC73): c.131+4A> G single nucleotide variant Uncertain significance rs878855089 GRCh37 Chromosome 1, 193091465: 193091465
38 CDC73 NM_024529.4(CDC73): c.131+4A> G single nucleotide variant Uncertain significance rs878855089 GRCh38 Chromosome 1, 193122335: 193122335
39 CDC73 NM_024529.4(CDC73): c.687_688dupAG (p.Val230Glufs) duplication Pathogenic rs878855090 GRCh37 Chromosome 1, 193111154: 193111155
40 CDC73 NM_024529.4(CDC73): c.687_688dupAG (p.Val230Glufs) duplication Pathogenic rs878855090 GRCh38 Chromosome 1, 193142024: 193142025
41 CDC73 NM_024529.4(CDC73): c.787C> T (p.Arg263Cys) single nucleotide variant Uncertain significance rs878855091 GRCh37 Chromosome 1, 193117054: 193117054
42 CDC73 NM_024529.4(CDC73): c.787C> T (p.Arg263Cys) single nucleotide variant Uncertain significance rs878855091 GRCh38 Chromosome 1, 193147924: 193147924
43 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh38 Chromosome 1, 193150315: 193150315
44 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh37 Chromosome 1, 193119445: 193119445
45 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh37 Chromosome 1, 193181196: 193181196
46 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh38 Chromosome 1, 193212066: 193212066
47 CDC73 NM_024529.4(CDC73): c.1185A> G (p.Gln395=) single nucleotide variant Benign rs116358657 GRCh37 Chromosome 1, 193202153: 193202153
48 CDC73 NM_024529.4(CDC73): c.1185A> G (p.Gln395=) single nucleotide variant Benign rs116358657 GRCh38 Chromosome 1, 193233023: 193233023
49 CDC73 NM_024529.4(CDC73): c.1193A> T (p.Gln398Leu) single nucleotide variant Uncertain significance rs878855088 GRCh37 Chromosome 1, 193202161: 193202161
50 CDC73 NM_024529.4(CDC73): c.1193A> T (p.Gln398Leu) single nucleotide variant Uncertain significance rs878855088 GRCh38 Chromosome 1, 193233031: 193233031
Sources

Expression for Parathyroid Carcinoma

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Search GEO for disease gene expression data for Parathyroid Carcinoma.
Sources

Pathways for Parathyroid Carcinoma

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Pathways related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.97 CALCA RET UCHL1
2
Hepatitis C and Hepatocellular Carcinoma 1
10.86 CCND1 UCHL1
3
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.61 CALCA PTH
4
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.21 CCND1 PTH
Sources

GO Terms for Parathyroid Carcinoma

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Cellular components related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 CALCA CASR RET UCHL1
2 axon GO:0030424 8.92 CALCA CASR RET UCHL1

Biological processes related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.76 CCND1 CDC73 MEN1 PTH
2 response to drug GO:0042493 9.65 CCND1 PTH RET
3 negative regulation of epithelial cell proliferation GO:0050680 9.52 CDC73 MEN1
4 response to calcium ion GO:0051592 9.51 CASR CCND1
5 cellular response to glucose stimulus GO:0071333 9.49 CASR MEN1
6 monocyte chemotaxis GO:0002548 9.43 CALCA LGALS3
7 response to ischemia GO:0002931 9.4 CASR UCHL1
8 beta-catenin-TCF complex assembly GO:1904837 9.37 CDC73 MEN1
9 response to pain GO:0048265 9.32 CALCA RET
10 vasodilation GO:0042311 9.26 CALCA CASR
11 positive regulation of calcium ion import GO:0090280 9.16 CASR LGALS3
12 cellular calcium ion homeostasis GO:0006874 9.13 CALCA CASR PTH
13 response to fibroblast growth factor GO:0071774 8.62 CASR PTH
Sources

Sources for Parathyroid Carcinoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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