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 53 12 49 24 55 71 36 28 13 51 14
Parathyroid Neoplasms 24 51 41 69
Parathyroid Cancer 72 49 24 51
Malignant Tumor of Parathyroid Gland 12 24 69
Malignant Neoplasm of Parathyroid Gland 12 24
Parathyroid Gland Adenocarcinoma 12 69
Carcinoma of Parathyroid Gland 12 24
Parathyroid Gland Cancer 12 24
Parathyroid Neoplasm 12 72
Prtc 53 71
Malignant Neoplasm of the Parathyroid 12
Malignant Parathyroid Gland Neoplasm 24
Malignant Neoplasm of Parathyroid 24
Malignant Parathyroid Gland Tumor 24
Neoplasm of the Parathyroid Gland 28
Cancer of the Parathyroid Gland 24
Malignant Parathyroid Neoplasm 24
Malignant Tumor of Parathyroid 24
Neoplasm of Parathyroid Gland 12
Malignant Parathyroid Tumor 24
Parathyroid Gland Carcinoma 24
Parathyroid Gland Neoplasm 12
Parathyroid Adenocarcinoma 24
Cancer of the Parathyroid 24

Characteristics:

Orphanet epidemiological data:

55
parathyroid carcinoma
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe),<1/1000000 (United States); Age of onset: Adult; Age of death: adult,elderly;

HPO:

31
parathyroid carcinoma:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Parathyroid Carcinoma

NIH Rare Diseases : 49 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. Last updated: 10/1/2016

MalaCards based summary : Parathyroid Carcinoma, also known as parathyroid neoplasms, is related to osteitis fibrosa and hyperparathyroidism 2 with jaw tumors, and has symptoms including constipation, fatigue and headache. An important gene associated with Parathyroid Carcinoma is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Hepatitis C and Hepatocellular Carcinoma and Transcription_Role of VDR in regulation of genes involved in osteoporosis. 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 cardiovascular system and cellular

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

Genetics Home Reference : 24 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 : 71 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 : 72 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 87)
# Related Disease Score Top Affiliating Genes
1 osteitis fibrosa 31.4 CALCA CASR PTH
2 hyperparathyroidism 2 with jaw tumors 31.3 CASR CCND1 CDC73 MEN1
3 hypercalcemia, infantile, 1 30.4 CALCA CASR PTH
4 adenoma 30.2 CCND1 CDC73 MEN1
5 multiple endocrine neoplasia 30.1 CALCA MEN1
6 hyperparathyroidism 29.7 CALCA CASR CDC73 MEN1 PTH
7 secondary hyperparathyroidism of renal origin 29.6 CALCA CASR PTH
8 multiple endocrine neoplasia, type i 29.3 CASR CDC73 MEN1 PTH
9 multiple endocrine neoplasia, type iia 28.9 CALCA CDC73 MEN1 PTH
10 primary hyperparathyroidism 28.8 CALCA CASR CCND1 CDC73 MEN1 PTH
11 parathyroid adenoma 28.8 CALCA CASR CCND1 CDC73 MEN1 PTH
12 thyroid cancer 28.6 CALCA CCND1 LGALS3
13 thyroid cancer, nonmedullary, 1 28.6 CALCA CCND1 LGALS3 MEN1
14 parathyroid cancer, childhood 12.0
15 fibrogenesis imperfecta ossium 10.3 CALCA PTH
16 hypocalcemia, autosomal dominant 1 10.3 CALCA CASR
17 fibrous dysplasia 10.3 CALCA CDC73
18 hyperparathyroidism 3 10.3 CDC73 MEN1
19 hyperparathyroidism 1 10.3 CDC73 MEN1
20 hypophosphatasia, adult 10.2 CALCA PTH
21 calciphylaxis 10.2 CASR PTH
22 hypocalciuric hypercalcemia, familial, type ii 10.2 CASR PTH
23 cloacogenic carcinoma 10.2 CALCA PTH
24 pancreatic somatostatinoma 10.2 CALCA MEN1
25 pancreatic islet cell tumors 10.2 CALCA MEN1
26 metaphyseal chondrodysplasia, jansen type 10.2 CALCA PTH
27 glucocorticoid-induced osteoporosis 10.2 CALCA PTH
28 phosphorus metabolism disease 10.2 CASR PTH
29 pancreatic cholera 10.2 CALCA MEN1
30 multiple endocrine neoplasia, type iib 10.2 CALCA MEN1
31 carcinoid syndrome 10.2 CALCA MEN1
32 thyroid gland disease 10.2 CALCA PTH
33 parathyroid transitional clear cell adenoma 10.2 MEN1 PTH
34 clear cell adenoma 10.2 MEN1 PTH
35 islet cell tumor 10.2 CALCA MEN1
36 mediastinitis 10.2
37 burn scar 10.1 CALCA UCHL1
38 bone resorption disease 10.1 CALCA PTH
39 osteomalacia 10.1 CALCA CASR
40 thyroiditis 10.1
41 hyperphosphatemia 10.1 CASR PTH
42 bone remodeling disease 10.1 CALCA PTH
43 hypoparathyroidism 10.0 CASR PTH
44 familial hypocalciuric hypercalcemia 10.0 CASR CDC73 PTH
45 renal osteodystrophy 10.0 CALCA CASR PTH
46 mineral metabolism disease 10.0 CALCA CASR PTH
47 paget's disease of bone 10.0 CALCA PTH
48 chronic kidney failure 10.0 CALCA CASR PTH
49 periodontitis 9.9
50 endotheliitis 9.9

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:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
4 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
5 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
6 polydipsia 55 31 frequent (33%) Frequent (79-30%) HP:0001959
7 bone pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002653
8 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
9 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
10 hypophosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002148
11 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
12 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
13 pancreatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001733
14 hypercalciuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0002150
15 fibroma 55 31 frequent (33%) Frequent (79-30%) HP:0010614
16 nephrocalcinosis 55 31 frequent (33%) Frequent (79-30%) HP:0000121
17 nephrolithiasis 55 31 frequent (33%) Frequent (79-30%) HP:0000787
18 hypercalcemia 55 31 Obligate (100%) HP:0003072
19 elevated circulating parathyroid hormone level 55 31 hallmark (90%) Very frequent (99-80%) HP:0003165
20 episodic abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002574
21 peptic ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0004398
22 hoarse voice 55 31 frequent (33%) Frequent (79-30%) HP:0001609
23 pancreatic adenocarcinoma 55 31 very rare (1%) Very rare (<4-1%) HP:0006725
24 lipoma 55 31 very rare (1%) Very rare (<4-1%) HP:0012032
25 testicular neoplasm 55 31 very rare (1%) Very rare (<4-1%) HP:0010788
26 chondrocalcinosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000934
27 nephroblastoma 55 31 very rare (1%) Very rare (<4-1%) HP:0002667
28 thyroid carcinoma 55 31 very rare (1%) Very rare (<4-1%) HP:0002890
29 renal cyst 55 31 occasional (7.5%) Occasional (29-5%) HP:0000107
30 uterine leiomyoma 55 31 frequent (33%) Frequent (79-30%) HP:0000131
31 parathyroid carcinoma 55 31 obligate (100%) Obligate (100%) HP:0006780
32 infantile hypercalcemia 55 31 frequent (33%) Frequent (79-30%) HP:0008250
33 primary hyperparathyroidism 55 31 obligate (100%) Obligate (100%) HP:0008200
34 shortened qt interval 55 31 frequent (33%) Frequent (79-30%) HP:0012232
35 renal hamartoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0008696
36 mandibular pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0200025
37 hyperparathyroidism 31 HP:0000843
38 abnormality of the parathyroid morphology 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Parathyroid Carcinoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 CCND1 CDC73 LGALS3 MEN1 PTH UCHL1
2 cellular MP:0005384 9.93 CASR CCND1 CDC73 LGALS3 MEN1 PTH
3 digestive/alimentary MP:0005381 9.91 CASR CCND1 CDC73 LGALS3 MEN1 UCHL1
4 homeostasis/metabolism MP:0005376 9.91 UCHL1 CASR CCND1 CDC73 LGALS3 MEN1
5 hematopoietic system MP:0005397 9.88 CASR CCND1 CDC73 LGALS3 PTH UCHL1
6 immune system MP:0005387 9.8 CASR CCND1 CDC73 LGALS3 MEN1 PTH
7 mortality/aging MP:0010768 9.7 CASR CCND1 CDC73 LGALS3 MEN1 PTH
8 integument MP:0010771 9.65 CASR CCND1 CDC73 LGALS3 UCHL1
9 neoplasm MP:0002006 9.26 CCND1 CDC73 LGALS3 MEN1
10 skeleton MP:0005390 9.1 CASR CCND1 CDC73 LGALS3 PTH UCHL1

Drugs & Therapeutics for Parathyroid Carcinoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Sensipar 17 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 38904 498142
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 184475-35-2 123631
39 Protein Kinase Inhibitors

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 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 28 CDC73
2 Neoplasm of the Parathyroid Gland 28

Anatomical Context for Parathyroid Carcinoma

MalaCards organs/tissues related to Parathyroid Carcinoma:

38
Bone, Thyroid, Lung, Brain, Liver, Lymph Node, Breast

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

18
The Parathyroid Gl

Publications for Parathyroid Carcinoma

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 545)
# Title Authors Year
1
Parathyroid carcinoma: From a case report to a review of the literature. ( 29353223 )
2018
2
An Unusual Case of Meningioma Showing Increased CaSR Expression with Parathyroid Carcinoma. ( 29388399 )
2018
3
Cytological challenges in the diagnosis of intrathyroidal parathyroid carcinoma: A case report and review of literature. ( 29076656 )
2018
4
The diagnostic accuracy of neck ultrasound, 4D-Computed tomographyand sestamibi imaging in parathyroid carcinoma. ( 28987702 )
2017
5
Giant parathyroid adenoma: differential aspects compared to parathyroid carcinoma. ( 28491324 )
2017
6
Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case. ( 29225207 )
2017
7
Acute pancreatitis as an initial manifestation of parathyroid carcinoma: A case report and literature review. ( 29095277 )
2017
8
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. ( 28881068 )
2017
9
Synchronous parathyroid carcinoma and papillary thyroid carcinoma in a patient with long-standing schizophrenia. ( 29032667 )
2017
10
Prognostic Scoring System to Risk Stratify Parathyroid Carcinoma. ( 28427885 )
2017
11
A nationwide study on parathyroid carcinoma. ( 28362521 )
2017
12
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma. ( 28566413 )
2017
13
Nonfunctional double parathyroid carcinoma with incidental thyroid micropapillary carcinoma: a rare case. ( 28979642 )
2017
14
Parathyroid carcinoma: a clinical and genetic perspective. ( 28949121 )
2017
15
Atypical manifestation of parathyroid carcinoma with late-onset distant metastases. ( 29118988 )
2017
16
Denosumab as a long-term palliative therapy in parathyroid carcinoma. ( 28011854 )
2017
17
Postoperative local-regional radiation therapy in the treatment of parathyroid carcinoma: The MD Anderson experience of 35 years. ( 28751227 )
2017
18
A role for TET2 in parathyroid carcinoma. ( 28642344 )
2017
19
Non-functioning parathyroid carcinoma: a case report. ( 28726134 )
2017
20
Pathological bone fractures in a patient with parathyroid carcinoma - A Case Report. ( 29256556 )
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
Parathyroid carcinoma: an unusual presentation of a rare neoplasm. ( 29354025 )
2017
24
The use of cinacalcet hinders the diagnosis of parathyroid carcinoma in a chronic dialysis patient: a case report. ( 29047366 )
2017
25
Parathyroid Carcinoma in Patients that Have Undergone Surgery for Primary Hyperparathyroidism. ( 28882960 )
2017
26
Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases. ( 28458892 )
2017
27
Clinical characteristics and treatment outcomes of parathyroid carcinoma: A retrospective review of 234 cases. ( 29344163 )
2017
28
Spontaneous bilateral quadriceps tendon rupture revealing a parathyroid carcinoma. ( 28115266 )
2017
29
Denosumab is a long-term option for the management of parathyroid carcinoma-related refractory hypercalcemia. ( 28011856 )
2017
30
Simultaneous Incidental Parathyroid Carcinoma and Intrathyroid Parathyroid Gland in Suspected Renal Failure Induced Hyperparathyroidism. ( 28825015 )
2017
31
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
32
Novel association of MEN1 gene mutations with parathyroid carcinoma. ( 28693130 )
2017
33
Parathyroid carcinoma in tertiary hyperparathyroidism. ( 27664600 )
2016
34
Oncologic progress for the treatment of parathyroid carcinoma is needed. ( 27753088 )
2016
35
Update on parathyroid carcinoma. ( 27001435 )
2016
36
Parathyroid carcinoma presenting as mandibular ulceration. ( 26895764 )
2016
37
18F-FDG PET/CT Osteometabolic Activity in Metastatic Parathyroid Carcinoma. ( 27276208 )
2016
38
Difficult management in parathyroid carcinoma with synchronous parathyroid hyperplasia. ( 27677089 )
2016
39
Response to "Is denosumab a long-term option for the treatment of parathyroid carcinoma?". ( 26803152 )
2016
40
A case of parathyroid carcinoma accompanied by a brown tumor. ( 27278852 )
2016
41
Parathyroid carcinoma with contralateral subcutaneous and breast recurrences: A rare presentation. ( 26685878 )
2016
42
Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis. ( 27250989 )
2016
43
Intrathyroidal oxyphilic parathyroid carcinoma: A potential diagnostic caveat in cytology? ( 27229757 )
2016
44
An unusual mediastinal parathyroid carcinoma coproducing PTH and PTHrP: A case report. ( 27313750 )
2016
45
Controversies in the management of parathyroid carcinoma: A case series and review of the literature. ( 26708847 )
2016
46
Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in MEN1 Patients; A Clinico-Pathologic Challenge. The MD Anderson Case Series and Review of the Literature. ( 27212590 )
2016
47
Multiple brown tumours from parathyroid carcinoma. ( 27358103 )
2016
48
Pathologic Fracture of the Femur in Brown Tumor Induced in Parathyroid Carcinoma: A Case Report. ( 27777921 )
2016
49
Ossification of the cervical ligamentum flavum and osseous brown tumor: late manifestations of primary hyperparathyroidism misdiagnosed in a case of parathyroid carcinoma. ( 27252748 )
2016
50
More Extensive Surgery May Not Improve Survival Over Parathyroidectomy Alone in Parathyroid Carcinoma. ( 27177488 )
2016

Variations for Parathyroid Carcinoma

ClinVar genetic disease variations for Parathyroid Carcinoma:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh37 Chromosome 1, 193117033: 193117034
2 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
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.162C> G (p.Tyr54Ter) single nucleotide variant Pathogenic rs121434265 GRCh37 Chromosome 1, 193094272: 193094272
5 CDC73 CDC73, 1-BP INS, 373A insertion Pathogenic
6 CDC73 CDC73, 4-BP DEL, 685AGAG deletion Pathogenic
7 CDC73 NM_024529.4(CDC73): c.85delG (p.Glu29Serfs) deletion Pathogenic rs587776560 GRCh37 Chromosome 1, 193091415: 193091415
8 CDC73 NM_024529.4(CDC73): c.13_30del18 (p.Leu5_Gln10del) deletion Pathogenic rs587776561 GRCh37 Chromosome 1, 193091343: 193091360
9 CDC73 NM_024529.4(CDC73): c.687_688dupAG (p.Val230Glufs) duplication Pathogenic rs878855090 GRCh37 Chromosome 1, 193111154: 193111155
10 CDC73 NC_000001.11: g.(?_193130174)_(193130243_?)del deletion Pathogenic GRCh37 Chromosome 1, 193099304: 193099373
11 CDC73 NC_000001.11: g.(?_193203795)_(193236356_?)dup duplication Likely pathogenic GRCh38 Chromosome 1, 193203795: 193236356
12 CDC73 NM_024529.4(CDC73): c.245delA (p.Asn82Ilefs) deletion Pathogenic rs1060500009 GRCh38 Chromosome 1, 193130181: 193130181
13 CDC73 NM_024529.4(CDC73): c.4delG (p.Ala2Argfs) deletion Pathogenic rs1060500020 GRCh38 Chromosome 1, 193122204: 193122204
14 CDC73 NM_024529.4(CDC73): c.455_456delGA (p.Arg152Ilefs) deletion Pathogenic rs1060500019 GRCh38 Chromosome 1, 193138116: 193138117
15 CDC73 NM_024529.4(CDC73): c.729+1G> T single nucleotide variant Likely pathogenic rs1060500012 GRCh37 Chromosome 1, 193111197: 193111197
16 CDC73 NM_024529.4(CDC73): c.237+1G> C single nucleotide variant Pathogenic rs794727303 GRCh38 Chromosome 1, 193125218: 193125218
17 CDC73 NC_000001.11: g.(?_193130168)_(193135595_?)del deletion Likely pathogenic GRCh37 Chromosome 1, 193099298: 193104725
18 CDC73 NM_024529.4(CDC73): c.505C> T (p.Gln169Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 193138166: 193138166
19 CDC73 NM_024529.4(CDC73): c.1052delC (p.Pro351Glnfs) deletion Pathogenic GRCh37 Chromosome 1, 193181216: 193181216
20 CDC73 NM_024529.4(CDC73): c.376C> T (p.Arg126Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 193135542: 193135542

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 10.86 CCND1 UCHL1
2 10.61 CALCA PTH
3 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 9.13 CALCA CASR UCHL1
2 axon GO:0030424 8.8 CALCA CASR 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 9.71 CCND1 CDC73 MEN1 PTH
2 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.54 CALCA PTH
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 positive regulation of cAMP biosynthetic process GO:0030819 9.48 CALCA PTH
7 beta-catenin-TCF complex assembly GO:1904837 9.46 CDC73 MEN1
8 monocyte chemotaxis GO:0002548 9.43 CALCA LGALS3
9 response to ischemia GO:0002931 9.37 CASR UCHL1
10 vasodilation GO:0042311 9.32 CALCA CASR
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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