PRTC
MCID: PRT010
MIFTS: 67

Parathyroid Carcinoma (PRTC)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Parathyroid Carcinoma

MalaCards integrated aliases for Parathyroid Carcinoma:

Name: Parathyroid Carcinoma 57 11 19 42 58 73 28 12 53 5 14 75
Parathyroid Neoplasms 42 53 43 71
Parathyroid Cancer 19 42 75 53
Malignant Tumor of Parathyroid Gland 11 42 71
Malignant Neoplasm of Parathyroid Gland 11 42
Parathyroid Gland Adenocarcinoma 11 71
Carcinoma of Parathyroid Gland 11 42
Parathyroid Gland Carcinoma 42 16
Parathyroid Gland Cancer 11 42
Parathyroid Neoplasm 11 75
Prtc 57 73
Malignant Neoplasm of the Parathyroid 11
Malignant Parathyroid Gland Neoplasm 42
Malignant Neoplasm of Parathyroid 42
Malignant Parathyroid Gland Tumor 42
Neoplasm of the Parathyroid Gland 5
Cancer of the Parathyroid Gland 42
Malignant Parathyroid Neoplasm 42
Malignant Tumor of Parathyroid 42
Neoplasm of Parathyroid Gland 11
Malignant Parathyroid Tumor 42
Parathyroid Gland Neoplasm 11
Parathyroid Adenocarcinoma 42
Cancer of the Parathyroid 42
Carcinoma, Parathyroid 38

Characteristics:


Prevelance:

<1/1000000 (Europe, United States, Austria, Belgium, Bulgaria, Croatia, Czech Republic, Estonia, Finland, Germany, Iceland, Ireland, Italy, Latvia, Lithuania, Malta, Norway, Poland, Portugal, Slovakia, Slovenia, Spain, Switzerland, Netherlands, United Kingdom) 1-9/1000000 (Europe, Europe) 58

Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Parathyroid Carcinoma

MedlinePlus Genetics: 42 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.In about 90 percent of cases, the early signs of parathyroid cancer are high levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because the parathyroid glands are producing excess hormone.Many individuals with hormonally functional parathyroid cancer develop hypercalcemic crisis, in which calcium levels in the blood are very high. Neurological problems can develop, including changes in mood and depression. About 30 percent of individuals with hypercalcemia due to parathyroid cancer develop kidney and skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading to the formation of kidney stones (nephrolithiasis), bone pain, bone loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas (pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, vomiting, weight loss, and fatigue are also common.About 10 percent of cases of parathyroid cancer are described as hormonally nonfunctional. In these cases, levels of parathyroid hormone and calcium are normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer are related to the tumor obstructing nearby structures in the neck. These problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis.Up to 85 percent of individuals with parathyroid survive at least 5 years after they are diagnosed. The disease recurs in approximately half of individuals. If cancer does recur, it will commonly be within 3 years of the original diagnosis and up to 78 percent of people with recurrent cancer survive at least 5 years. Hormonally nonfunctional parathyroid cancer has a lower survival rate because it is often found at a later stage, as it does not have early signs such as increased calcium and parathyroid hormone levels.In hormonally functional parathyroid cancer, death is usually caused by organ failure (usually kidney failure) due to prolonged hypercalcemia and not directly due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of death is typically related to the tumor itself, such as its impact on the function of nearby structures or its spread to other tissues (metastasis).

MalaCards based summary: Parathyroid Carcinoma, also known as parathyroid neoplasms, is related to hyperparathyroidism 2 with jaw tumors and osteitis fibrosa. An important gene associated with Parathyroid Carcinoma is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Cinacalcet and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include parathyroid glands located in the neck, thyroid and bone, and related phenotypes are parathyroid carcinoma and primary hyperparathyroidism

GARD: 19 A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.

Orphanet: 58 A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An endocrine gland cancer located in the parathyroid glands located in the neck.

Wikipedia 75 Parathyroid cancer: Parathyroid carcinoma is a rare cancer resulting in parathyroid adenoma to carcinoma progression. It... more...

Parathyroid neoplasm: A parathyroid neoplasm is a tumor of the parathyroid... more...

More information 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 288)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 32.0 RET MEN1 CDC73 CCND1 CASR
2 osteitis fibrosa 31.9 PTH CDC73 CASR CALCA
3 hyperparathyroidism 1 31.8 MEN1 GCM2 CDC73
4 hyperparathyroidism 31.0 RET PTH MEN1 GCM2 CDC73 CASR
5 goiter 30.7 RET LGALS3 CALCA
6 multiple endocrine neoplasia 30.7 RET PTH MEN1 CDC73 CALCA
7 ossifying fibroma 30.4 PTH MEN1 CDC73
8 thyroid carcinoma, familial medullary 30.4 RET MEN1 CALCA
9 endocrine gland cancer 30.4 RET MIR30B MIR139 APC
10 thyroid gland medullary carcinoma 30.3 RET PTH MEN1 CALCA
11 hypercalcemia, infantile, 1 30.3 PTH CASR CALCA
12 papillary carcinoma 30.3 RET MKI67 LGALS3 CALCA
13 secondary hyperparathyroidism 30.3 PTH MEN1 CXADR CASR CALCA
14 multinodular goiter 30.2 RET PTH LGALS3 CALCA
15 primary hyperparathyroidism 30.2 RET PTH MEN1 GCM2 CXADR CDC73
16 hyperphosphatemia 30.1 PTH GCM2 CASR
17 islet cell tumor 30.1 RET MEN1 CALCA
18 adenoma 30.0 RET PTH MKI67 MEN1 LGALS3 CTNNB1
19 multiple endocrine neoplasia, type i 30.0 RET PTH MIR139 MEN1 GCM2 CDC73
20 nodular goiter 30.0 RET PTH LGALS3 CALCA
21 thyroid gland follicular carcinoma 30.0 RET LGALS3 CTNNB1 CCND1 CALCA
22 inherited cancer-predisposing syndrome 30.0 RET RB1 MEN1 CDC73 APC
23 bap1 tumor predisposition syndrome 30.0 RET RB1 MEN1 CDC73 APC
24 substernal goiter 30.0 RET PTH CALCA
25 neuroendocrine tumor 29.9 RET MKI67 MEN1 CCND1 CALCA
26 parathyroid gland disease 29.9 RET PTH MEN1 GCM2 CDC73 CASR
27 familial adenomatous polyposis 29.9 CTNNB1 CCND1 APC
28 hashimoto thyroiditis 29.9 RET LGALS3 CALCA
29 rickets 29.8 PTH CASR CALCA
30 multiple endocrine neoplasia, type iia 29.8 RET PTH MIR139 MEN1 CDC73 CALCA
31 thyroid gland anaplastic carcinoma 29.6 RET LGALS3 CTNNB1 CCND1 CALCA
32 thyroid gland cancer 29.5 RET PTH MEN1 LGALS3 CTNNB1 CCND1
33 conn's syndrome 29.4 RET PTH MEN1 CTNNB1 CASR CALCA
34 parathyroid adenoma 29.3 RET PTH MEN1 LGALS3 GCM2 CXADR
35 adenocarcinoma 29.3 RET RB1 CTNNB1 CCND1 APC
36 lung cancer susceptibility 3 29.3 RB1 MIR139 CTNNB1 CCND1 APC
37 prolactinoma 29.3 MEN1 CTNNB1 CCND1
38 brain cancer 29.3 RB1 MIR139 CTNNB1 APC
39 hypoparathyroidism 29.3 RET PTH GCM2 CXADR CASR CALCA
40 meningioma, familial 29.2 RET MKI67 MEN1 CTNNB1 CCND1 APC
41 lynch syndrome 29.2 RET MIR139 MEN1 CTNNB1 CCND1 APC
42 nephrolithiasis, calcium oxalate 10.5
43 thyroid carcinoma 10.5
44 bone disease 10.5
45 rare tumor 10.4
46 chronic kidney disease 10.4
47 tetanic cataract 10.4 PTH CALCA
48 malignant ovarian brenner tumor 10.3 PTH CALCA
49 kidney disease 10.3
50 nephrolithiasis 10.3

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

Human phenotypes related to Parathyroid Carcinoma:

58 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid carcinoma 58 30 Obligate (100%) Obligate (100%)
HP:0006780
2 primary hyperparathyroidism 58 30 Obligate (100%) Obligate (100%)
HP:0008200
3 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002148
4 hypercalciuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002150
5 elevated circulating parathyroid hormone level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003165
6 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
7 polydipsia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001959
8 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
9 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
10 nephrolithiasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000787
11 nephrocalcinosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000121
12 hoarse voice 58 30 Frequent (33%) Frequent (79-30%)
HP:0001609
13 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
14 fibroma 58 30 Frequent (33%) Frequent (79-30%)
HP:0010614
15 uterine leiomyoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000131
16 infantile hypercalcemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008250
17 shortened qt interval 58 30 Frequent (33%) Frequent (79-30%)
HP:0012232
18 nausea and vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002017
19 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
20 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
21 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
22 peptic ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004398
23 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
24 bone pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002653
25 chondrocalcinosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000934
26 renal cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000107
27 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
28 episodic abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002574
29 renal hamartoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008696
30 mandibular pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200025
31 pancreatic adenocarcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006725
32 lipoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012032
33 nephroblastoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002667
34 thyroid carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002890
35 testicular neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010788
36 hypercalcemia 58 30 Obligate (100%)
HP:0003072
37 hyperparathyroidism 30 HP:0000843
38 abnormality of the parathyroid morphology 58 Very frequent (99-80%)

Clinical features from OMIM®:

608266 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Parathyroid Carcinoma according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.64 MEN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.64 MEN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.64 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.64 CCND1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.64 CCND1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.64 MEN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.64 RB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 RB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.64 RB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.64 APC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.64 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.64 CCND1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.64 CCND1 RB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.64 CCND1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.64 CCND1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 RB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 CTNNB1 MEN1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 RB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.64 MEN1

MGI Mouse Phenotypes related to Parathyroid Carcinoma:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 APC CALCA CASR CCND1 CDC73 CTNNB1
2 nervous system MP:0003631 10.42 APC CALCA CASR CCND1 CDC73 CTNNB1
3 growth/size/body region MP:0005378 10.37 APC CASR CCND1 CDC73 CTNNB1 CXADR
4 neoplasm MP:0002006 10.33 APC CALCA CCND1 CDC73 CTNNB1 LGALS3
5 renal/urinary system MP:0005367 10.31 APC CALCA CASR CDC73 CTNNB1 CXADR
6 endocrine/exocrine gland MP:0005379 10.29 APC CASR CCND1 CDC73 CTNNB1 CXADR
7 digestive/alimentary MP:0005381 10.26 APC CASR CCND1 CDC73 CTNNB1 CXADR
8 cellular MP:0005384 10.25 APC CASR CCND1 CDC73 CTNNB1 CXADR
9 normal MP:0002873 10.24 APC CALCA CCND1 CTNNB1 GCM2 MEN1
10 cardiovascular system MP:0005385 10.18 APC CALCA CCND1 CDC73 CTNNB1 CXADR
11 behavior/neurological MP:0005386 10.18 APC CALCA CASR CCND1 CDC73 CTNNB1
12 immune system MP:0005387 10.17 ADCK1 APC CASR CCND1 CDC73 CTNNB1
13 muscle MP:0005369 10.16 APC CASR CDC73 CTNNB1 CXADR MEN1
14 liver/biliary system MP:0005370 10.15 APC CDC73 CTNNB1 CXADR LGALS3 MEN1
15 embryo MP:0005380 10.15 APC CALCA CDC73 CTNNB1 CXADR GCM2
16 craniofacial MP:0005382 10.06 APC CCND1 CDC73 CTNNB1 GCM2 MEN1
17 respiratory system MP:0005388 9.96 CALCA CCND1 CDC73 CTNNB1 CXADR LGALS3
18 skeleton MP:0005390 9.93 APC CALCA CASR CCND1 CDC73 CTNNB1
19 mortality/aging MP:0010768 9.83 APC CALCA CASR CCND1 CDC73 CTNNB1
20 integument MP:0010771 9.28 APC CALCA CASR CCND1 CDC73 CTNNB1

Drugs & Therapeutics for Parathyroid Carcinoma

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

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinacalcet Approved Phase 4 226256-56-0 156419
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741 5523
4
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Codeine Approved, Illicit Phase 4 76-57-3, 6854-40-6 5284371 5362471
7 Respiratory System Agents Phase 4
8 Analgesics, Opioid Phase 4
9 Analgesics Phase 4
10 Antipyretics Phase 4
11 Antitussive Agents Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
14 Narcotics Phase 4
15 Pharmaceutical Solutions Phase 4
16
Denosumab Approved Phase 3 615258-40-7
17
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
18
Choline Approved, Nutraceutical Phase 3 62-49-7 305
19 Vitamins Phase 3
20 Calciferol Phase 3
21 Antimetabolites Phase 3
22 Hypolipidemic Agents Phase 3
23 Nootropic Agents Phase 3
24 Lipid Regulating Agents Phase 3
25 Gastrointestinal Agents Phase 3
26 Technetium Tc 99m Sestamibi Phase 3
27
Nivolumab Approved Phase 2 946414-94-4
28
Ipilimumab Approved Phase 2 477202-00-9
29 Diphosphonates Phase 2
30 Dihydroxyphenylalanine Phase 2
31 Antineoplastic Agents, Immunological Phase 2
32 Immunoglobulins Phase 2
33 Immune Checkpoint Inhibitors Phase 2
34 Antibodies, Monoclonal Phase 2
35 Antibodies Phase 2
36
Dacarbazine Approved, Investigational Phase 1 4342-03-4 2942 5351166
37
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
38
Carboplatin Approved Phase 1 41575-94-4 10339178 38904
39
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
40
Trastuzumab Approved, Investigational Phase 1 180288-69-1
41 Alkylating Agents Phase 1
42 Antineoplastic Agents, Alkylating Phase 1
43 Albumin-Bound Paclitaxel Phase 1
44 Adjuvants, Immunologic Phase 1
45 Interleukin-12 Phase 1
46 Angiogenesis Inhibitors Phase 1
47 Immunologic Factors Phase 1
48
Gefitinib Approved, Investigational 184475-35-2 123631
49
Parathyroid hormone Approved, Investigational 9002-64-6
50
Lidocaine Approved, Vet_approved Early Phase 1 137-58-6 3676

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 An Assessment of the Calcimimetic Agent AMG 073 for the Treatment of Subjects With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism. Completed NCT00037518 Phase 4 AMG 073
2 Minimizing Narcotic Analgesics After Thyroid or Parathyroid Surgery Completed NCT03469310 Phase 4 Acetaminophen 500Mg Cap;Tylenol #3 Oral Tablet;Tramadol
3 Intravenous Or Topical Lidocaine And Neuromonitoring in Thyroid Surgery (IOLANT Study) Recruiting NCT04574947 Phase 4 Intravenous lidocaine;Intravenous placebo
4 An Intra-Subject Dose-Adjustment Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Who Are Unable to Undergo Parathyroidectomy or Relapse After Parathyroidectomy Completed NCT03280264 Phase 3 KHK7580
5 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
6 18F-Fluorocholine for the Detection of Parathyroid Adenomas Completed NCT03764007 Phase 2, Phase 3 18F-Fluorocholine
7 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Completed NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
8 18F-Fluorocholine Positron Emission Tomography (PET) for the Detection of Parathyroid Adenomas Recruiting NCT04895631 Phase 3 18F-Fluorocholine
9 Phase III Trial Comparing 2 Diagnostic Strategies for Preoperative Localization of Parathyroid Adenoma in Primary Hyperparathyroidism:TEMP / CT With Tc99m-sestaMIBI or PET / CT With F18-choline in First Intention Active, not recruiting NCT04040946 Phase 3
10 A Single-arm, Multicenter, Proof-of-concept Study of Denosumab in the Treatment of Hypercalcemia of Malignancy in Subjects With Elevated Serum Calcium Despite Recent Treatment With IV Bisphosphonates Completed NCT00896454 Phase 2 denosumab
11 Interest of the F18-choline as a Second Line of the Tracer for Detection of Parathyroid Adenomas Completed NCT02432599 Phase 2
12 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 Phase 2 68Ga-Dotatate;18F-DOPA
13 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
14 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Withdrawn NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
15 Phase I Trial of Dacarbazine and Bortezomib in Melanoma and Soft Tissue Sarcoma Completed NCT00580320 Phase 1 Dacarbazine and bortezomib
16 A Phase I Trial of Herceptin and Interleukin-12 Completed NCT00004074 Phase 1
17 Molecular and Immunohistochemical Profiling of Tumor From Patients With Parathyroid Tumors for Evaluation of Targeted Agents Unknown status NCT03039439
18 Evaluation of a New CZT System for Imaging in Routine Nuclear Medicine Examination Unknown status NCT01084356
19 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
20 Localization of Parathyroid Adenoma by Fluorocholine Positron Emission Tomography/MRI (PET/MRI): A Prospective Pilot Study Unknown status NCT02843542
21 Parathyroid Cancer Versus Atypical Parathyroid Neoplasm; Investigating Their Clinical Characteristics and Biological Behavior Completed NCT03046524
22 Use of Hypocalcemic Intraarterial Infusion Into the Thyroid/Parathyroid Bed to Localize Occult Parathyroid Adenomas Completed NCT00001394
23 Detection and Characterization of Circulating Tumor Cells in Patients With Malignant Pleural Mesothelioma: Towards a New Phase in the Understanding of the Natural History of This Cancer? Completed NCT01776385
24 Optimization and Individualization of Diagnostic Scintigraphy Protocol and Minimally Invasive Radio-guided Parathyroid Surgery Using Quantitative Analysis of Scintigraphy Results on Hybrid SPECT-CT Imaging Completed NCT04344886
25 The Utility of 18F-fluorocholine PET/CT in the Imaging of Parathyroid Adenomas Completed NCT04570033
26 Observation of Histological Changes in Parathyroid Adenomas Following High Intensity Focused Ultrasound (HIFU)Treatment Procedure: A Monocentre, Open, Uncontrolled Study Completed NCT01060982
27 The Feasibility of Bilateral Intermediate Cervical Plexus Block for Thyroidectomy/Parathyroidectomy Under Moderate Sedation; Retrospective Study Completed NCT04905641
28 Single Agent ZD-1839 (NSC-715055, IND-61187) in Patients With Advanced Head and Neck Carcinoma or Non-Small Cell Lung Cancer Aged 75 Years and Older (and in a Cohort of Patients 50 Years Old and Younger) Completed NCT00068497 gefitinib
29 Amino Acid Transport Imaging of Parathyroid Adenomas With Anti-3-[18F]FACBC Completed NCT01574287 FACBC
30 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Recruiting NCT04299425
31 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Recruiting NCT04028479 Systemic Treatment (T)
32 Prospective Comprehensive Molecular Analysis of Endocrine Neoplasms Recruiting NCT01005654
33 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Recruiting NCT05022641
34 Pre-operative Localization of Parathyroid Adenomas Using F-18 PSMA PET/CT: A Pilot Study Recruiting NCT05299632
35 Natural History Study of Parathyroid Disorders Recruiting NCT04969926
36 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Active, not recruiting NCT05152927
37 Intraoperative Injection of Exparel Effect on Postoperative Opioid Use in Thyroid and Parathyroid Surgery Enrolling by invitation NCT04085913 Early Phase 1 Lidocaine Epinephrine;Bupivacaine Hydrochloride-EPINEPHrine;Lidocaine Epinephrine, Bupivacaine Hydrochloride-EPINEPHrine
38 Interactions Between Bone and Parathyroid Tumors in Patiens With Primary Hyperparathyroidism (The PARABONE Study) Not yet recruiting NCT05556499
39 Cohort Trial on Perioperative Localization Techniques of Parathyroid Adenomas Not yet recruiting NCT04013100
40 Localization of Parathyroid Adenomas Using MRI and SPECT Fusion Software in Patients With Persistent or Recurrent Hyperparathyroidism Terminated NCT00639405
41 High Intensity Focused Ultrasound (HIFU) for Parathyroid Adenoma Terminated NCT01291498
42 Multicenter Registry Comparing Preoperative Imaging for Primary Hyperparathyroidism Withdrawn NCT02381925
43 Ultrasound Guided Fine Needle Aspiration of Parathyroid Gland as a Pre Operative Localization Tool to Identify Pathological Parathyroid Withdrawn NCT03516747

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

Anatomical Context for Parathyroid Carcinoma

Organs/tissues related to Parathyroid Carcinoma:

FMA: Parathyroid Glands Located In The Neck
MalaCards : Thyroid, Bone, Kidney, Pancreas, Pituitary, Lung, Lymph Node

Publications for Parathyroid Carcinoma

Articles related to Parathyroid Carcinoma:

(show top 50) (show all 1724)
# Title Authors PMID Year
1
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 53 62 57 5
14585940 2003
2
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 53 62 5
17314275 2007
3
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 53 62 5
16720667 2006
4
Genotype of CDC73 germline mutation determines risk of parathyroid cancer. 62 5
32590342 2020
5
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion. 62 5
29755684 2018
6
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. 62 5
29040582 2017
7
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. 62 5
28774260 2017
8
Hyperparathyroidism-jaw tumor syndrome: Results of operative management. 62 5
25444225 2014
9
CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma. 62 5
24823466 2014
10
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. 62 5
23293331 2013
11
Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas. 62 5
23029104 2012
12
[Clinical and molecular genetic analyses for a sporadic parathyroid carcinoma]. 62 5
20979880 2010
13
The effect of disease-associated HRPT2 mutations on splicing. 62 5
19332451 2009
14
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 62 5
14715834 2004
15
HRPT2, a marker of parathyroid cancer. 62 57
14585935 2003
16
Clinical review 122: Parathyroid carcinoma. 62 57
11157996 2001
17
Natural history of parathyroid carcinoma. Diagnosis, treatment, and results. 62 57
3985291 1985
18
Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation. 5
28394026 2017
19
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
20
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
21
Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese. 5
24716902 2014
22
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
23
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. 5
15613436 2005
24
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). 5
14985403 2004
25
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 5
12434154 2002
26
Death as a result of asthma in Wayne County Medical Examiner cases, 1975-1987. 5
2329331 1990
27
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. 53 62
19926710 2010
28
The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. 53 62
19906718 2010
29
Molecular genetics of parathyroid disease. 53 62
19373510 2009
30
Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation. 53 62
19491073 2009
31
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 53 62
19148484 2009
32
Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma. 53 62
19017757 2009
33
Defining a molecular phenotype for benign and malignant parathyroid tumors. 53 62
19107770 2009
34
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 53 62
18987311 2008
35
Primary hyperparathyroidism: a current perspective. 53 62
18684024 2008
36
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. 53 62
18338208 2008
37
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 53 62
18436011 2008
38
Aberrant methylation of the HRPT2 gene in parathyroid carcinoma. 53 62
18217513 2007
39
Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. 53 62
17555500 2007
40
Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? 53 62
17468190 2007
41
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 53 62
16931959 2006
42
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. 53 62
16817812 2006
43
Parathyroid carcinoma. 53 62
16357559 2006
44
Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. 53 62
16116486 2005
45
Galectin-3 expression in parathyroid carcinoma: immunohistochemical study of 26 cases. 53 62
16112008 2005
46
Parathyroid carcinoma: an overview. 53 62
15731573 2005
47
Parathyroid carcinoma. 53 62
15719375 2005
48
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. 53 62
15580289 2005
49
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 53 62
15531515 2004
50
Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. 53 62
15475453 2004

Variations for Parathyroid Carcinoma

ClinVar genetic disease variations for Parathyroid Carcinoma:

5 (show top 50) (show all 896)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC73 NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) SNV Pathogenic
3271 rs121434263 GRCh37: 1:193091458-193091458
GRCh38: 1:193122328-193122328
2 CDC73 NM_024529.5(CDC73):c.375dup (p.Arg126fs) DUP Pathogenic
3275 rs1572150584 GRCh37: 1:193104668-193104669
GRCh38: 1:193135538-193135539
3 CDC73 NM_024529.5(CDC73):c.685_688del (p.Arg229fs) MICROSAT Pathogenic
3278 rs760591174 GRCh37: 1:193111146-193111149
GRCh38: 1:193142016-193142019
4 CDC73 NM_024529.5(CDC73):c.85del (p.Glu29fs) DEL Pathogenic
3280 rs587776560 GRCh37: 1:193091412-193091412
GRCh38: 1:193122282-193122282
5 CDC73 NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) DEL Pathogenic
3281 rs587776561 GRCh37: 1:193091342-193091359
GRCh38: 1:193122212-193122229
6 CDC73 NC_000001.11:g.(?_193130174)_(193130243_?)del DEL Pathogenic
417319 GRCh37: 1:193099304-193099373
GRCh38: 1:193130174-193130243
7 overlap with 20 genes DEL Pathogenic
560081 GRCh37: 1:191888324-194584888
GRCh38: 1:191919194-194615758
8 CDC73 NC_000001.11:g.(?_193236246)_(193236366_?)del DEL Pathogenic
583777 GRCh37: 1:193205376-193205496
GRCh38: 1:193236246-193236366
9 CDC73 NM_024529.5(CDC73):c.220dup (p.Tyr74fs) DUP Pathogenic
801586 rs1572142597 GRCh37: 1:193094327-193094328
GRCh38: 1:193125197-193125198
10 CDC73 and overlap with 1 gene(s) NC_000001.11:g.(?_193122201)_(193250712_?)del DEL Pathogenic
830490 GRCh37: 1:193091331-193219842
GRCh38:
11 CDC73 NC_000001.11:g.(?_193122201)_(193125227_?)del DEL Pathogenic
830741 GRCh37: 1:193091331-193094357
GRCh38:
12 CDC73 NC_000001.11:g.(?_193125102)_(193130253_?)del DEL Pathogenic
831107 GRCh37: 1:193094232-193099383
GRCh38:
13 CDC73 NC_000001.11:g.(?_193122191)_(193125227_?)del DEL Pathogenic
831275 GRCh37: 1:193091321-193094357
GRCh38:
14 CDC73 NC_000001.11:g.(?_193135381)_(193138183_?)del DEL Pathogenic
833443 GRCh37: 1:193104511-193107313
GRCh38:
15 CDC73 NC_000001.11:g.(?_193122191)_(193152454_?)del DEL Pathogenic
832317 GRCh37: 1:193091321-193121584
GRCh38:
16 CDC73 and overlap with 2 gene(s) NC_000001.11:g.(?_193122191)_(193250722_?)del DEL Pathogenic
647462 GRCh37: 1:193091321-193219852
GRCh38: 1:193122191-193250722
17 CDC73 NM_024529.5(CDC73):c.1405dup (p.Ile469fs) DUP Pathogenic
938616 rs1677757559 GRCh37: 1:193205473-193205474
GRCh38: 1:193236343-193236344
18 CDC73 NC_000001.10:g.(?_193099298)_(193099379_?)del DEL Pathogenic
1069682 GRCh37: 1:193099298-193099379
GRCh38:
19 CDC73 NC_000001.10:g.(?_193181185)_(193219842_?)del DEL Pathogenic
1069683 GRCh37: 1:193181185-193219842
GRCh38:
20 CDC73 NC_000001.10:g.(?_193202113)_(193205496_?)del DEL Pathogenic
1069684 GRCh37: 1:193202113-193205496
GRCh38:
21 CDC73 NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) SNV Pathogenic
1355843 GRCh37: 1:193111095-193111095
GRCh38: 1:193141965-193141965
22 CDC73 NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) SNV Pathogenic
1353959 GRCh37: 1:193172964-193172964
GRCh38: 1:193203834-193203834
23 CDC73 NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) SNV Pathogenic
1388879 GRCh37: 1:193181525-193181525
GRCh38: 1:193212395-193212395
24 CDC73 NM_024529.5(CDC73):c.893del (p.Phe298fs) DEL Pathogenic
1414614 GRCh37: 1:193119497-193119497
GRCh38: 1:193150367-193150367
25 CDC73 NM_024529.5(CDC73):c.1417dup (p.Ile473fs) DUP Pathogenic
1405935 GRCh37: 1:193205482-193205483
GRCh38: 1:193236352-193236353
26 CDC73 NM_024529.5(CDC73):c.877dup (p.Tyr293fs) DUP Pathogenic
1454174 GRCh37: 1:193119481-193119482
GRCh38: 1:193150351-193150352
27 CDC73 NM_024529.5(CDC73):c.626_629del (p.Lys209fs) DEL Pathogenic
1457825 GRCh37: 1:193111092-193111095
GRCh38: 1:193141962-193141965
28 CDC73 and overlap with 1 gene(s) NC_000001.10:g.(?_193091331)_(193172992_?)del DEL Pathogenic
1455935 GRCh37: 1:193091331-193172992
GRCh38:
29 CDC73 NM_024529.5(CDC73):c.1307del (p.Pro436fs) DEL Pathogenic
1456450 GRCh37: 1:193202274-193202274
GRCh38: 1:193233144-193233144
30 CDC73 NM_024529.5(CDC73):c.331del (p.Ser111fs) DEL Pathogenic
1456469 GRCh37: 1:193104543-193104543
GRCh38: 1:193135413-193135413
31 CDC73 NM_024529.5(CDC73):c.1397del (p.Pro466fs) DEL Pathogenic
1459882 GRCh37: 1:193205465-193205465
GRCh38: 1:193236335-193236335
32 CDC73 NM_024529.5(CDC73):c.501_502del (p.Glu168fs) DEL Pathogenic
1454960 GRCh37: 1:193107292-193107293
GRCh38: 1:193138162-193138163
33 CDC73 NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) SNV Pathogenic
1457823 GRCh37: 1:193104702-193104702
GRCh38: 1:193135572-193135572
34 CDC73 NM_024529.5(CDC73):c.201del (p.His68fs) DEL Pathogenic
1452911 GRCh37: 1:193094311-193094311
GRCh38: 1:193125181-193125181
35 CDC73 NM_024529.5(CDC73):c.455_456del (p.Arg152fs) MICROSAT Pathogenic
403892 rs1060500019 GRCh37: 1:193107241-193107242
GRCh38: 1:193138111-193138112
36 CDC73 NM_024529.5(CDC73):c.53_54del (p.Ile18fs) DEL Pathogenic
567635 rs1558276157 GRCh37: 1:193091383-193091384
GRCh38: 1:193122253-193122254
37 CDC73 NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs) DEL Pathogenic
844763 rs1677132309 GRCh37: 1:193172953-193172956
GRCh38: 1:193203823-193203826
38 CDC73 NM_024529.5(CDC73):c.245del (p.Asn82fs) DEL Pathogenic
403878 rs1060500009 GRCh37: 1:193099308-193099308
GRCh38: 1:193130178-193130178
39 CDC73 NM_024529.5(CDC73):c.237+1G>C SNV Pathogenic
403882 rs794727303 GRCh37: 1:193094348-193094348
GRCh38: 1:193125218-193125218
40 CDC73 NM_024529.5(CDC73):c.7dup (p.Asp3fs) DUP Pathogenic
939836 rs1675462891 GRCh37: 1:193091335-193091336
GRCh38: 1:193122205-193122206
41 CDC73 NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) SNV Pathogenic
279950 rs886041278 GRCh37: 1:193104568-193104568
GRCh38: 1:193135438-193135438
42 CDC73 NM_024529.5(CDC73):c.10del (p.Val4fs) DEL Pathogenic
1069972 GRCh37: 1:193091340-193091340
GRCh38: 1:193122210-193122210
43 CDC73 NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) SNV Pathogenic
3274 rs121434265 GRCh37: 1:193094272-193094272
GRCh38: 1:193125142-193125142
44 CDC73 NM_024529.5(CDC73):c.1052del (p.Pro351fs) DEL Pathogenic
462737 rs1553288362 GRCh37: 1:193181212-193181212
GRCh38: 1:193212082-193212082
45 CDC73 NM_024529.5(CDC73):c.483dup (p.Glu162fs) DUP Pathogenic
531648 rs1553279085 GRCh37: 1:193107271-193107272
GRCh38: 1:193138141-193138142
46 CDC73 NC_000001.11:g.(?_193122191)_(193150392_?)del DEL Pathogenic
830553 GRCh37: 1:193091321-193119522
GRCh38:
47 CDC73 NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) SNV Pathogenic
967087 rs1675465013 GRCh37: 1:193091394-193091394
GRCh38: 1:193122264-193122264
48 CDC73 NM_024529.5(CDC73):c.423+1G>A SNV Pathogenic
430013 rs1131691732 GRCh37: 1:193104720-193104720
GRCh38: 1:193135590-193135590
49 CDC73 NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) SNV Pathogenic
1072177 GRCh37: 1:193104554-193104554
GRCh38: 1:193135424-193135424
50 CDC73 NM_024529.5(CDC73):c.718del (p.Ser240fs) DEL Pathogenic
660497 rs1572154885 GRCh37: 1:193111183-193111183
GRCh38: 1:193142053-193142053

Expression for Parathyroid Carcinoma

Search GEO for disease gene expression data for Parathyroid Carcinoma.

Pathways for Parathyroid Carcinoma



Pathways directly related to Parathyroid Carcinoma:

# Pathway Source
1 Signaling by LRP5 mutants Reactome 66

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 bicellular tight junction GO:0005923 9.23 CXADR CTNNB1 CCND1 APC

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of epithelial cell proliferation GO:0050680 9.8 RB1 MEN1 CDC73
2 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.63 RB1 CDC73 APC
3 response to fibroblast growth factor GO:0071774 9.56 PTH CASR
4 endodermal cell fate commitment GO:0001711 9.26 CTNNB1 CDC73
5 cellular calcium ion homeostasis GO:0006874 9.17 PTH GCM2 CASR CALCA

Sources for Parathyroid Carcinoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....