MCID: PRT010
MIFTS: 64

Parathyroid Carcinoma

Categories: Genetic diseases, Rare diseases, Cancer diseases, Endocrine diseases

Aliases & Classifications for Parathyroid Carcinoma

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:

Orphanet: 59  
Rare endocrine diseases


Summaries for Parathyroid Carcinoma

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 secondary hyperparathyroidism of renal origin. 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 Calcimimetic Agents 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

Related Diseases for Parathyroid Carcinoma

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 osteitis fibrosa 31.6 CALCA CASR PTH
2 secondary hyperparathyroidism of renal origin 29.8 CALCA CASR PTH
3 hyperparathyroidism 2 with jaw tumors 29.7 CASR CCND1 CDC73 MEN1 RET
4 thyroiditis 29.5 CALCA RET
5 bone disease 29.4 CALCA CASR PTH
6 multiple endocrine neoplasia 29.2 CALCA MEN1 RET
7 adenoma 28.2 CASR CCND1 CDC73 MEN1 RET
8 thyroid cancer 28.1 CALCA CCND1 LGALS3 RET
9 hyperparathyroidism 27.9 CALCA CASR CDC73 MEN1 PTH RET
10 multiple endocrine neoplasia, type i 27.8 CASR CDC73 MEN1 PTH RET
11 multiple endocrine neoplasia, type iia 27.3 CALCA CDC73 MEN1 PTH RET
12 primary hyperparathyroidism 26.9 CALCA CASR CCND1 CDC73 MEN1 PTH
13 parathyroid adenoma 26.8 CALCA CASR CCND1 CDC73 MEN1 PTH
14 parathyroid cancer, childhood 12.0
15 fibrogenesis imperfecta ossium 10.5 CALCA PTH
16 hypocalciuric hypercalcemia, familial, type iii 10.5 CASR PTH
17 hypoparathyroidism, familial isolated 10.5 CASR PTH
18 calciphylaxis 10.5 CASR PTH
19 hypocalcemia, autosomal dominant 1 10.4 CALCA CASR
20 hypophosphatasia, adult 10.4 CALCA PTH
21 hypocalciuric hypercalcemia, familial, type ii 10.4 CASR PTH
22 burn scar 10.4 CALCA UCHL1
23 cloacogenic carcinoma 10.4 CALCA PTH
24 phosphorus metabolism disease 10.4 CASR PTH
25 glucocorticoid-induced osteoporosis 10.4 CALCA PTH
26 metaphyseal chondrodysplasia, jansen type 10.3 CALCA PTH
27 thyroid gland disease 10.3 CALCA PTH
28 bone resorption disease 10.2 CALCA PTH
29 familial hypocalciuric hypercalcemia 10.2 CASR CDC73 PTH
30 mediastinitis 10.2
31 hypercalcemia, infantile, 1 10.2 CALCA CASR PTH
32 hyperphosphatemia 10.1 CASR PTH
33 lichen nitidus 10.1 RET UCHL1
34 renal osteodystrophy 10.1 CALCA CASR PTH
35 mineral metabolism disease 10.1 CALCA CASR PTH
36 bone remodeling disease 10.1 CALCA PTH
37 hyperparathyroidism 3 10.1 CDC73 MEN1
38 osteomalacia 10.1 CALCA CASR
39 chronic kidney failure 10.1 CALCA CASR PTH
40 hyperparathyroidism 1 10.1 CDC73 MEN1
41 pancreatic somatostatinoma 10.0 CALCA MEN1
42 malignant struma ovarii 10.0 LGALS3 RET
43 parathyroid transitional clear cell adenoma 10.0 MEN1 PTH
44 polymorphous low-grade adenocarcinoma 10.0 CCND1 LGALS3
45 pancreatic cholera 10.0 CALCA MEN1
46 periodontitis 9.9
47 endotheliitis 9.9
48 colonic disease 9.9 RET UCHL1
49 clear cell adenoma 9.9 MEN1 PTH
50 carcinoid syndrome 9.9 CALCA MEN1

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

Symptoms & Phenotypes for Parathyroid Carcinoma

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 infantile hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0008250
33 primary hyperparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008200
34 shortened qt interval 59 32 frequent (33%) Frequent (79-30%) HP:0012232
35 renal hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0008696
36 mandibular pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0200025
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 PTH RET UCHL1 CCND1 CDC73 LGALS3
2 cellular MP:0005384 10.07 CASR CCND1 CDC73 LGALS3 MEN1 PTH
3 digestive/alimentary MP:0005381 10.05 CASR CCND1 CDC73 LGALS3 MEN1 RET
4 homeostasis/metabolism MP:0005376 10.03 CASR CCND1 CDC73 LGALS3 MEN1 PTH
5 growth/size/body region MP:0005378 10.02 CASR CCND1 CDC73 MEN1 PTH RET
6 hematopoietic system MP:0005397 10 PTH RET UCHL1 CASR CCND1 CDC73
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 CDC73 LGALS3 RET UCHL1 CASR
13 respiratory system MP:0005388 9.35 CCND1 CDC73 LGALS3 RET UCHL1
14 skeleton MP:0005390 9.1 CASR CCND1 CDC73 LGALS3 PTH UCHL1

Drugs & Therapeutics for Parathyroid Carcinoma

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

Genetic Tests for Parathyroid Carcinoma

Genetic tests related to Parathyroid Carcinoma:

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

Anatomical Context for Parathyroid Carcinoma

MalaCards organs/tissues related to Parathyroid Carcinoma:

41
Bone, Thyroid, Lung, Brain, Liver, Lymph Node, Pituitary

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

19
The Parathyroid Gl

Publications for Parathyroid Carcinoma

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 561)
# 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
The diagnostic accuracy of neck ultrasound, 4D-Computed tomographyand sestamibi imaging in parathyroid carcinoma. ( 28987702 )
2017
12
Simultaneous Incidental Parathyroid Carcinoma and Intrathyroid Parathyroid Gland in Suspected Renal Failure Induced Hyperparathyroidism. ( 28825015 )
2017
13
[Parathyroid carcinoma: about a case and review of the literature]. ( 28819506 )
2017
14
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma. ( 28566413 )
2017
15
Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases. ( 28458892 )
2017
16
Parathyroid carcinoma: an unusual presentation of a rare neoplasm. ( 29354025 )
2017
17
A role for TET2 in parathyroid carcinoma. ( 28642344 )
2017
18
Synchronous parathyroid carcinoma and papillary thyroid carcinoma in a patient with long-standing schizophrenia. ( 29032667 )
2017
19
Pathological bone fractures in a patient with parathyroid carcinoma - A Case Report. ( 29256556 )
2017
20
Giant parathyroid adenoma: differential aspects compared to parathyroid carcinoma. ( 28491324 )
2017
21
<i>MEN1</i> gene mutation with parathyroid carcinoma: first report of a familial case. ( 29097378 )
2017
22
Parathyroid carcinoma in a patient with three prior parathyroid adenomas. ( 28636744 )
2017
23
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
24
Denosumab as a long-term palliative therapy in parathyroid carcinoma. ( 28011854 )
2017
25
Parathyroid carcinoma: a clinical and genetic perspective. ( 28949121 )
2017
26
Atypical manifestation of parathyroid carcinoma with late-onset distant metastases. ( 29118988 )
2017
27
Clinical characteristics and treatment outcomes of parathyroid carcinoma: A retrospective review of 234 cases. ( 29344163 )
2017
28
Novel association of MEN1 gene mutations with parathyroid carcinoma. ( 28693130 )
2017
29
Postoperative local-regional radiation therapy in the treatment of parathyroid carcinoma: The MD Anderson experience of 35 years. ( 28751227 )
2017
30
The use of cinacalcet hinders the diagnosis of parathyroid carcinoma in a chronic dialysis patient: a case report. ( 29047366 )
2017
31
Denosumab is a long-term option for the management of parathyroid carcinoma-related refractory hypercalcemia. ( 28011856 )
2017
32
A nationwide study on parathyroid carcinoma. ( 28362521 )
2017
33
Prognostic Scoring System to Risk Stratify Parathyroid Carcinoma. ( 28427885 )
2017
34
Nonfunctional double parathyroid carcinoma with incidental thyroid micropapillary carcinoma: a rare case. ( 28979642 )
2017
35
Parathyroid Carcinoma in Patients that Have Undergone Surgery for Primary Hyperparathyroidism. ( 28882960 )
2017
36
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. ( 28881068 )
2017
37
Non-functioning parathyroid carcinoma: a case report. ( 28726134 )
2017
38
Acute pancreatitis as an initial manifestation of parathyroid carcinoma: A case report and literature review. ( 29095277 )
2017
39
Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case. ( 29225207 )
2017
40
Spontaneous bilateral quadriceps tendon rupture revealing a parathyroid carcinoma. ( 28115266 )
2017
41
Oncologic progress for the treatment of parathyroid carcinoma is needed. ( 27753088 )
2016
42
Parathyroid carcinoma. ( 26771263 )
2016
43
Differentiation of parathyroid carcinoma and adenoma by preoperative ultrasonography. ( 27609904 )
2016
44
Intrathyroidal parathyroid carcinoma. A case report and review of literature. ( 26588997 )
2016
45
Association of parathyroid carcinoma and thyroid disorders: A clinical review. ( 27744598 )
2016
46
Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis. ( 27250989 )
2016
47
Parathyroid carcinoma with contralateral subcutaneous and breast recurrences: A rare presentation. ( 26685878 )
2016
48
Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome. ( 27679651 )
2016
49
18F-FDG PET/CT Osteometabolic Activity in Metastatic Parathyroid Carcinoma. ( 27276208 )
2016
50
Preoperative diagnosis and prognosis in 40 Parathyroid Carcinoma Patients. ( 26939543 )
2016

Variations for Parathyroid Carcinoma

ClinVar genetic disease variations for Parathyroid Carcinoma:

6
(show top 50) (show all 410)
# 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.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh37 Chromosome 1, 193117033: 193117034
14 CDC73 NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh38 Chromosome 1, 193147903: 193147904
15 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh37 Chromosome 1, 193219854: 193219854
16 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh38 Chromosome 1, 193250724: 193250724
17 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh37 Chromosome 1, 193091363: 193091363
18 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh38 Chromosome 1, 193122233: 193122233
19 CDC73 NM_024529.4(CDC73): c.131+4A> G single nucleotide variant Uncertain significance rs878855089 GRCh37 Chromosome 1, 193091465: 193091465
20 CDC73 NM_024529.4(CDC73): c.131+4A> G single nucleotide variant Uncertain significance rs878855089 GRCh38 Chromosome 1, 193122335: 193122335
21 CDC73 NM_024529.4(CDC73): c.687_688dupAG (p.Val230Glufs) duplication Pathogenic rs878855090 GRCh37 Chromosome 1, 193111154: 193111155
22 CDC73 NM_024529.4(CDC73): c.687_688dupAG (p.Val230Glufs) duplication Pathogenic rs878855090 GRCh38 Chromosome 1, 193142024: 193142025
23 CDC73 NM_024529.4(CDC73): c.787C> T (p.Arg263Cys) single nucleotide variant Uncertain significance rs878855091 GRCh37 Chromosome 1, 193117054: 193117054
24 CDC73 NM_024529.4(CDC73): c.787C> T (p.Arg263Cys) single nucleotide variant Uncertain significance rs878855091 GRCh38 Chromosome 1, 193147924: 193147924
25 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh38 Chromosome 1, 193150315: 193150315
26 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh37 Chromosome 1, 193119445: 193119445
27 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh37 Chromosome 1, 193181196: 193181196
28 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh38 Chromosome 1, 193212066: 193212066
29 CDC73 NM_024529.4(CDC73): c.1185A> G (p.Gln395=) single nucleotide variant Benign rs116358657 GRCh37 Chromosome 1, 193202153: 193202153
30 CDC73 NM_024529.4(CDC73): c.1185A> G (p.Gln395=) single nucleotide variant Benign rs116358657 GRCh38 Chromosome 1, 193233023: 193233023
31 CDC73 NM_024529.4(CDC73): c.1193A> T (p.Gln398Leu) single nucleotide variant Uncertain significance rs878855088 GRCh37 Chromosome 1, 193202161: 193202161
32 CDC73 NM_024529.4(CDC73): c.1193A> T (p.Gln398Leu) single nucleotide variant Uncertain significance rs878855088 GRCh38 Chromosome 1, 193233031: 193233031
33 CDC73 NM_024529.4(CDC73): c.1333G> A (p.Val445Ile) single nucleotide variant Uncertain significance rs368442389 GRCh38 Chromosome 1, 193236272: 193236272
34 CDC73 NM_024529.4(CDC73): c.1333G> A (p.Val445Ile) single nucleotide variant Uncertain significance rs368442389 GRCh37 Chromosome 1, 193205402: 193205402
35 CDC73 NM_024529.4(CDC73): c.-10G> T single nucleotide variant Benign/Likely benign rs188082584 GRCh37 Chromosome 1, 193091321: 193091321
36 CDC73 NM_024529.4(CDC73): c.-10G> T single nucleotide variant Benign/Likely benign rs188082584 GRCh38 Chromosome 1, 193122191: 193122191
37 CDC73 NM_024529.4(CDC73): c.-4dupG duplication Conflicting interpretations of pathogenicity rs545666726 GRCh37 Chromosome 1, 193091327: 193091327
38 CDC73 NM_024529.4(CDC73): c.-4dupG duplication Conflicting interpretations of pathogenicity rs545666726 GRCh38 Chromosome 1, 193122197: 193122197
39 CDC73 NM_024529.4(CDC73): c.-186C> G single nucleotide variant Uncertain significance rs886045710 GRCh37 Chromosome 1, 193091145: 193091145
40 CDC73 NM_024529.4(CDC73): c.-186C> G single nucleotide variant Uncertain significance rs886045710 GRCh38 Chromosome 1, 193122015: 193122015
41 CDC73 NM_024529.4(CDC73): c.-143G> C single nucleotide variant Uncertain significance rs778446879 GRCh37 Chromosome 1, 193091188: 193091188
42 CDC73 NM_024529.4(CDC73): c.-143G> C single nucleotide variant Uncertain significance rs778446879 GRCh38 Chromosome 1, 193122058: 193122058
43 CDC73 NM_024529.4(CDC73): c.-121G> A single nucleotide variant Uncertain significance rs886045711 GRCh37 Chromosome 1, 193091210: 193091210
44 CDC73 NM_024529.4(CDC73): c.-121G> A single nucleotide variant Uncertain significance rs886045711 GRCh38 Chromosome 1, 193122080: 193122080
45 CDC73 NM_024529.4(CDC73): c.-95G> A single nucleotide variant Likely benign rs143969598 GRCh37 Chromosome 1, 193091236: 193091236
46 CDC73 NM_024529.4(CDC73): c.-95G> A single nucleotide variant Likely benign rs143969598 GRCh38 Chromosome 1, 193122106: 193122106
47 CDC73 NM_024529.4(CDC73): c.659T> C (p.Val220Ala) single nucleotide variant Uncertain significance rs886045713 GRCh37 Chromosome 1, 193111126: 193111126
48 CDC73 NM_024529.4(CDC73): c.659T> C (p.Val220Ala) single nucleotide variant Uncertain significance rs886045713 GRCh38 Chromosome 1, 193141996: 193141996
49 CDC73 NM_024529.4(CDC73): c.*94A> G single nucleotide variant Likely benign rs547969893 GRCh37 Chromosome 1, 193219936: 193219936
50 CDC73 NM_024529.4(CDC73): c.*94A> G single nucleotide variant Likely benign rs547969893 GRCh38 Chromosome 1, 193250806: 193250806

Expression for Parathyroid Carcinoma

Search GEO for disease gene expression data for Parathyroid Carcinoma.

Pathways for Parathyroid Carcinoma

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

# Super pathways Score Top Affiliating Genes
1 11.97 CALCA RET UCHL1
2 10.86 CCND1 UCHL1
3 10.61 CALCA PTH
4 10.21 CCND1 PTH

GO Terms for Parathyroid Carcinoma

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 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 CCND1 CDC73 MEN1 PTH
2 response to drug GO:0042493 9.67 CCND1 PTH RET
3 negative regulation of epithelial cell proliferation GO:0050680 9.54 CDC73 MEN1
4 cellular response to glucose stimulus GO:0071333 9.52 CASR MEN1
5 response to calcium ion GO:0051592 9.51 CASR CCND1
6 monocyte chemotaxis GO:0002548 9.48 CALCA LGALS3
7 beta-catenin-TCF complex assembly GO:1904837 9.46 CDC73 MEN1
8 response to ischemia GO:0002931 9.4 CASR UCHL1
9 vasodilation GO:0042311 9.37 CALCA CASR
10 response to pain GO:0048265 9.32 CALCA RET
11 positive regulation of calcium ion import GO:0090280 9.26 CASR LGALS3
12 positive regulation of ossification GO:0045778 9.16 CALCA PTH
13 cellular calcium ion homeostasis GO:0006874 9.13 CALCA CASR PTH
14 response to fibroblast growth factor GO:0071774 8.62 CASR PTH

Sources for Parathyroid Carcinoma

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
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49 NCI
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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
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