MCID: PRT010
MIFTS: 61

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 54 12 50 56 71 29 13 52 14
Malignant Tumor of Parathyroid Gland 12 69
Parathyroid Gland Adenocarcinoma 12 69
Parathyroid Neoplasms 42 69
Parathyroid Cancer 50 52
Malignant Neoplasm of Parathyroid Gland 12
Malignant Neoplasm of the Parathyroid 12
Neoplasm of the Parathyroid Gland 29
Carcinoma of Parathyroid Gland 12
Neoplasm of Parathyroid Gland 12
Parathyroid Gland Neoplasm 12
Parathyroid Gland Cancer 12
Parathyroid Neoplasm 12
Prtc 71

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare endocrine diseases


Summaries for Parathyroid Carcinoma

NIH Rare Diseases : 50 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 malignant tumor of parathyroid gland, is related to hyperparathyroidism-jaw tumor syndrome and parathyroid cancer, childhood, and has symptoms including dysphagia, nephrolithiasis and nephrocalcinosis. 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 digestive/alimentary

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.

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.

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

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 in the Parathyroid Carcinoma family:

Cdc73-Related Parathyroid Carcinoma

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 hyperparathyroidism-jaw tumor syndrome 31.0 CASR CCND1 CDC73 MEN1
2 parathyroid cancer, childhood 11.9
3 cdc73-related parathyroid carcinoma 11.8
4 hypochondrogenesis 10.4 CALCA PTH
5 worth's syndrome 10.4 CALCA CDC73
6 epilepsy idiopathic generalized 8 10.4 CALCA CASR
7 hypophosphatasia, adult 10.4 CALCA PTH
8 hyperparathyroidism 3 10.4 CDC73 MEN1
9 hypocalcemia, autosomal dominant 2 10.4 CASR PTH
10 anal canal squamous cell carcinoma 10.4 CALCA PTH
11 pemphigus foliaceus 10.4 CALCA MEN1
12 pandas 10.4 CALCA MEN1
13 gastric antral vascular ectasia 10.4 CASR PTH
14 polyglucosan body disease, adult form 10.4 CALCA PTH
15 hyperparathyroidism 10.4
16 bacillary angiomatosis 10.4 CALCA PTH
17 iris mixed cell melanoma 10.3 CALCA MEN1
18 central hypoventilation syndrome, congenital 10.3 CALCA MEN1
19 carcinoma of unknown primary site, childhood 10.3 CALCA MEN1
20 fibrolamellar carcinoma 10.3 CALCA PTH
21 childhood intracortical osteosarcoma 10.3 MEN1 PTH
22 physical disorder 10.3 CALCA PTH
23 kartagener syndrome 10.3 CALCA MEN1
24 mild pre-eclampsia 10.3 CALCA CASR
25 brain angioma 10.3 MEN1 PTH
26 loeys-dietz syndrome 10.3 CASR PTH
27 cartilage disease 10.3 CALCA UCHL1
28 bone deterioration disease 10.3 CALCA PTH
29 adenoma 10.2
30 sporadic hemiplegic migraine 10.2 CALCA MEN1
31 vestibular gland benign neoplasm 10.1 MEN1 PTH
32 parathyroid adenoma 10.1
33 parathyroid gland disease 10.1 CASR PTH
34 methylmalonic acidemia due to transcobalamin receptor defect 10.1 CASR CDC73 PTH
35 mediastinitis 10.1
36 waardenburg syndrome, type 4b 10.1 CALCA CASR PTH
37 xanthomatosis 10.1 CALCA CASR PTH
38 pes anserinus tendinitis or bursitis 10.1 CALCA CASR PTH
39 tinea unguium 10.1 CALCA CASR PTH
40 astrakhan spotted fever 10.1 CALCA CASR PTH
41 thyroiditis 10.0
42 chronic myelomonocytic leukemia 10.0 CALCA CASR PTH
43 nodular prostate 10.0 CALCA LGALS3
44 cardiovascular organ benign neoplasm 10.0 CDC73 MEN1 PTH
45 small cell sarcoma 10.0 CALCA CCND1
46 mixed cell type adenoma of parathyroid 10.0 CALCA MEN1 PTH
47 multiple endocrine neoplasia 9.9
48 erythrocytosis, familial, 2 9.9 CCND1 MEN1
49 childhood optic nerve glioma 9.9 CCND1 CDC73 MEN1
50 polyosteolysis/hyperostosis syndrome 9.9 CCND1 LGALS3

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:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 nephrolithiasis 56 32 frequent (33%) Frequent (79-30%) HP:0000787
3 nephrocalcinosis 56 32 frequent (33%) Frequent (79-30%) HP:0000121
4 hypercalciuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0002150
5 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
6 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
7 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
8 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
9 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
10 pancreatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001733
11 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
12 bone pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002653
13 pancreatic adenocarcinoma 56 32 very rare (1%) Very rare (<4-1%) HP:0006725
14 hypercalcemia 56 32 Obligate (100%) HP:0003072
15 primary hyperparathyroidism 56 32 obligate (100%) Obligate (100%) HP:0008200
16 weight loss 56 32 frequent (33%) Frequent (79-30%) HP:0001824
17 polydipsia 56 32 frequent (33%) Frequent (79-30%) HP:0001959
18 hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002148
19 hoarse voice 56 32 frequent (33%) Frequent (79-30%) HP:0001609
20 episodic abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002574
21 thyroid carcinoma 56 32 very rare (1%) Very rare (<4-1%) HP:0002890
22 lipoma 56 32 very rare (1%) Very rare (<4-1%) HP:0012032
23 chondrocalcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000934
24 nephroblastoma 56 32 very rare (1%) Very rare (<4-1%) HP:0002667
25 renal cyst 56 32 occasional (7.5%) Occasional (29-5%) HP:0000107
26 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
27 peptic ulcer 56 32 occasional (7.5%) Occasional (29-5%) HP:0004398
28 fibroma 56 32 frequent (33%) Frequent (79-30%) HP:0010614
29 elevated circulating parathyroid hormone level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003165
30 testicular neoplasm 56 32 very rare (1%) Very rare (<4-1%) HP:0010788
31 uterine leiomyoma 56 32 frequent (33%) Frequent (79-30%) HP:0000131
32 parathyroid carcinoma 56 32 obligate (100%) Obligate (100%) HP:0006780
33 infantile hypercalcemia 56 32 frequent (33%) Frequent (79-30%) HP:0008250
34 shortened qt interval 56 32 frequent (33%) Frequent (79-30%) HP:0012232
35 renal hamartoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0008696
36 mandibular pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0200025
37 hyperparathyroidism 32 HP:0000843
38 abnormality of the parathyroid morphology 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Parathyroid Carcinoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 CCND1 CDC73 LGALS3 MEN1 PTH UCHL1
2 digestive/alimentary MP:0005381 9.85 CDC73 LGALS3 MEN1 UCHL1 CASR CCND1
3 hematopoietic system MP:0005397 9.8 CASR CCND1 CDC73 LGALS3 PTH UCHL1
4 homeostasis/metabolism MP:0005376 9.8 CASR CCND1 CDC73 LGALS3 MEN1 PTH
5 immune system MP:0005387 9.63 CASR CCND1 CDC73 LGALS3 MEN1 PTH
6 integument MP:0010771 9.35 CASR CCND1 CDC73 LGALS3 UCHL1
7 mortality/aging MP:0010768 9.17 CASR CCND1 CDC73 LGALS3 MEN1 PTH

Drugs & Therapeutics for Parathyroid Carcinoma

FDA approved drugs:

id 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 46)
id 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,Phase 1
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
Denosumab Approved Phase 1 615258-40-7
28
Zoledronic acid Approved Phase 1 118072-93-8 68740
29
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
30 Pancreatic Polypeptide Investigational Phase 1 59763-91-6
31
tipifarnib Investigational Phase 1 192185-72-1 159324
32
Entinostat Investigational Phase 1 209783-80-2
33 Adjuvants, Immunologic Phase 1
34 Albumin-Bound Paclitaxel Phase 1
35 Angiogenesis Inhibitors Phase 1
36 Angiogenesis Modulating Agents Phase 1
37 Antimitotic Agents Phase 1
38 Antineoplastic Agents, Phytogenic Phase 1
39 Interleukin-12 Phase 1
40 Histone Deacetylase Inhibitors Phase 1
41 Bone Density Conservation Agents Phase 1
42 Calcifediol Phase 1 19356-17-3
43 Calcium, Dietary Phase 1
44 Vitamins Phase 1
45
Gefitinib Approved, Investigational 184475-35-2 123631
46 Protein Kinase Inhibitors

Interventional clinical trials:

(show all 16)

id 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 Effect of CTAP101 Capsules on Ca/iPTH in Advanced Breast/Prostate Cancer Patients Treated With Denosumab/Zoledronic Acid Active, not recruiting NCT02274623 Phase 1 CTAP101 Capsules
12 Differentially Expressed Proteins in Sporadic Parathyroid Tumors Unknown status NCT01647503
13 Gefitinib in Treating Patients With Metastatic or Unresectable Head and Neck Cancer or Non-Small Cell Lung Cancer Completed NCT00068497 gefitinib
14 Parathyroid Reimplantation in Forearm Subcutaneous Tissue During Thyroidectomy: a Simple Way to Avoid Ipoparathyroidism and Evaluate Graft Function Completed NCT02194920
15 Parathyroid Cancer Versus Atypical Parathyroid Neoplasm; Investigating Their Clinical Characteristics and Biological Behavior Recruiting NCT03046524
16 Intra-operative Rapid Identification of Lymph Node and Parathyroid Recruiting NCT03268785

Search NIH Clinical Center for Parathyroid Carcinoma

Cochrane evidence based reviews: parathyroid neoplasms

Genetic Tests for Parathyroid Carcinoma

Genetic tests related to Parathyroid Carcinoma:

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

Anatomical Context for Parathyroid Carcinoma

MalaCards organs/tissues related to Parathyroid Carcinoma:

39
Bone, Thyroid, Lung, Lymph Node, Liver, Brain, Prostate

Publications for Parathyroid Carcinoma

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 530)
id Title Authors Year
1
Denosumab as a long-term palliative therapy in parathyroid carcinoma. ( 28011854 )
2017
2
A role for TET2 in parathyroid carcinoma. ( 28642344 )
2017
3
Parathyroid carcinoma in a patient with three prior parathyroid adenomas. ( 28636744 )
2017
4
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma. ( 28566413 )
2017
5
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. ( 28881068 )
2017
6
Simultaneous Incidental Parathyroid Carcinoma and Intrathyroid Parathyroid Gland in Suspected Renal Failure Induced Hyperparathyroidism. ( 28825015 )
2017
7
Giant parathyroid adenoma: differential aspects compared to parathyroid carcinoma. ( 28491324 )
2017
8
Parathyroid carcinoma: a clinical and genetic perspective. ( 28949121 )
2017
9
Postoperative local-regional radiation therapy in the treatment of parathyroid carcinoma: The MD Anderson experience of 35 years. ( 28751227 )
2017
10
Parathyroid Carcinoma in Patients that Have Undergone Surgery for Primary Hyperparathyroidism. ( 28882960 )
2017
11
Non-functioning parathyroid carcinoma: a case report. ( 28726134 )
2017
12
Denosumab is a long-term option for the management of parathyroid carcinoma-related refractory hypercalcemia. ( 28011856 )
2017
13
A nationwide study on parathyroid carcinoma. ( 28362521 )
2017
14
Prognostic Scoring System to Risk Stratify Parathyroid Carcinoma. ( 28427885 )
2017
15
Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases. ( 28458892 )
2017
16
Spontaneous bilateral quadriceps tendon rupture revealing a parathyroid carcinoma. ( 28115266 )
2017
17
Novel association of MEN1 gene mutations with parathyroid carcinoma. ( 28693130 )
2017
18
Update on parathyroid carcinoma. ( 27001435 )
2016
19
Pathologic Fracture of the Femur in Brown Tumor Induced in Parathyroid Carcinoma: A Case Report. ( 27777921 )
2016
20
Parathyroid carcinoma in tertiary hyperparathyroidism. ( 27664600 )
2016
21
Intrathyroidal parathyroid carcinoma. A case report and review of literature. ( 26588997 )
2016
22
Multiple brown tumours from parathyroid carcinoma. ( 27358103 )
2016
23
18F-FDG PET/CT Osteometabolic Activity in Metastatic Parathyroid Carcinoma. ( 27276208 )
2016
24
More Extensive Surgery May Not Improve Survival Over Parathyroidectomy Alone in Parathyroid Carcinoma. ( 27177488 )
2016
25
Differentiation of parathyroid carcinoma and adenoma by preoperative ultrasonography. ( 27609904 )
2016
26
Controversies in the management of parathyroid carcinoma: A case series and review of the literature. ( 26708847 )
2016
27
Parathyroid carcinoma with contralateral subcutaneous and breast recurrences: A rare presentation. ( 26685878 )
2016
28
Difficult management in parathyroid carcinoma with synchronous parathyroid hyperplasia. ( 27677089 )
2016
29
A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. ( 27544721 )
2016
30
Parafibromin, APC, and MIB-1 Are Useful Markers for Distinguishing Parathyroid Carcinomas From Adenomas. ( 27490759 )
2016
31
A case of parathyroid carcinoma accompanied by a brown tumor. ( 27278852 )
2016
32
Intrathyroidal oxyphilic parathyroid carcinoma: A potential diagnostic caveat in cytology? ( 27229757 )
2016
33
Diagnostic performance of parafibromin immunohistochemical staining for sporadic parathyroid carcinoma: a meta-analysis. ( 27250989 )
2016
34
Ossification of the cervical ligamentum flavum and osseous brown tumor: late manifestations of primary hyperparathyroidism misdiagnosed in a case of parathyroid carcinoma. ( 27252748 )
2016
35
Oncologic progress for the treatment of parathyroid carcinoma is needed. ( 27753088 )
2016
36
Association of parathyroid carcinoma and thyroid disorders: A clinical review. ( 27744598 )
2016
37
Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome. ( 27679651 )
2016
38
Somatic HRPT2 Mutation (Arg234X) of Parathyroid Carcinoma Associated with Slipped Capital Femoral Epiphysis: A First Case Report. ( 27266237 )
2016
39
Preoperative diagnosis and prognosis in 40 Parathyroid Carcinoma Patients. ( 26939543 )
2016
40
Parathyroid carcinoma. ( 26771263 )
2016
41
Parathyroid carcinoma presenting as mandibular ulceration. ( 26895764 )
2016
42
Response to "Is denosumab a long-term option for the treatment of parathyroid carcinoma?". ( 26803152 )
2016
43
Is denosumab a long-term option for the treatment of parathyroid carcinoma? ( 26803154 )
2016
44
An unusual mediastinal parathyroid carcinoma coproducing PTH and PTHrP: A case report. ( 27313750 )
2016
45
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
46
Brown Tumors Due to Primary Hyperparathyroidism in a Patient with Parathyroid Carcinoma Mimicking Skeletal Metastases on (18)F-FDG PET/CT. ( 26854155 )
2015
47
Parathyroid carcinoma: Diagnostic criteria, classification, evaluation. ( 25916757 )
2015
48
Parathyroid Carcinoma: Is It Time for Change? ( 26100817 )
2015
49
Establishment and characterization of a human parathyroid carcinoma derived cell line. ( 25655355 )
2015
50
The Emerging Role of Denosumab in the Long Term Management of Parathyroid Carcinoma-Related Refractory Hypercalcemia. ( 25667369 )
2015

Variations for Parathyroid Carcinoma

ClinVar genetic disease variations for Parathyroid Carcinoma:

6 (show all 16)
id 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.128G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs121434263 GRCh37 Chromosome 1, 193091458: 193091458
3 CDC73 NM_024529.4(CDC73): c.162C> G (p.Tyr54Ter) single nucleotide variant Pathogenic rs121434265 GRCh37 Chromosome 1, 193094272: 193094272
4 CDC73 CDC73, 1-BP INS, 373A insertion Pathogenic
5 CDC73 CDC73, 4-BP DEL, 685AGAG deletion Pathogenic
6 CDC73 NM_024529.4(CDC73): c.85delG (p.Glu29Serfs) deletion Pathogenic rs587776560 GRCh37 Chromosome 1, 193091415: 193091415
7 CDC73 NM_024529.4(CDC73): c.13_30del18 (p.Leu5_Gln10del) deletion Pathogenic rs587776561 GRCh37 Chromosome 1, 193091343: 193091360
8 CDC73 NM_024529.4(CDC73): c.766_767delGT (p.Val256Lysfs) deletion Pathogenic rs80356650 GRCh37 Chromosome 1, 193117033: 193117034
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

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:

id 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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.71 CCND1 CDC73 MEN1 PTH
2 negative regulation of epithelial cell proliferation GO:0050680 9.54 CDC73 MEN1
3 response to calcium ion GO:0051592 9.52 CASR CCND1
4 cellular response to glucose stimulus GO:0071333 9.51 CASR MEN1
5 positive regulation of cAMP biosynthetic process GO:0030819 9.49 CALCA PTH
6 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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