MCID: PRM005
MIFTS: 58

Primary Hyperparathyroidism

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

Aliases & Classifications for Primary Hyperparathyroidism

MalaCards integrated aliases for Primary Hyperparathyroidism:

Name: Primary Hyperparathyroidism 12 74 52 36 29 6 15 17 32
Hyperparathyroidism, Primary 52 43 71
Hypocalciuric Hypercalcemia, Familial, Type 1 71
Familial Primary Hyperparathyroidism 12
Familial Benign Hypercalcemia 71
Familial Hyperparathyroidism 71
Hyperparathyroidism Primary 54

Classifications:



External Ids:

Disease Ontology 12 DOID:11202
KEGG 36 H00246
ICD9CM 34 252.01
MeSH 43 D049950
NCIt 49 C48280
SNOMED-CT 67 36348003 54920000
ICD10 32 E21.0
UMLS 71 C0221002 C0271846 C0342637 more

Summaries for Primary Hyperparathyroidism

NIH Rare Diseases : 52 Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism . Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.

MalaCards based summary : Primary Hyperparathyroidism, also known as hyperparathyroidism, primary, is related to hyperparathyroidism 1 and hyperparathyroidism 2 with jaw tumors. An important gene associated with Primary Hyperparathyroidism is MEN1 (Menin 1), and among its related pathways/superpathways are Signaling by GPCR and Presynaptic function of Kainate receptors. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and kidney, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

KEGG : 36 Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.

Wikipedia : 74 Primary hyperparathyroidism is usually caused by a tumor within the parathyroid gland. The symptoms of... more...

Related Diseases for Primary Hyperparathyroidism

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism Rare Hyperparathyroidism

Diseases related to Primary Hyperparathyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 641)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 34.7 MEN1 GCM2 CDC73
2 hyperparathyroidism 2 with jaw tumors 34.4 RET MEN1 CDC73 CASR
3 hyperparathyroidism, neonatal severe 34.4 PRKAR1A NR1I3 CASR
4 parathyroid carcinoma 33.3 RET PTH MEN1 CDC73 CASR CALCA
5 multiple endocrine neoplasia, type i 32.4 RET PTH PRKAR1A MEN1 GAST CHGA
6 adenoma 32.2 RET PTH PRKAR1A MEN1 CHGA CDC73
7 goiter 31.9 RET CALCA BGLAP
8 multiple endocrine neoplasia 31.9 RET PRKAR1A MEN1 CDKN1B CALCA
9 nephrocalcinosis 31.7 PTH FGF23 CASR ALB
10 osteitis fibrosa 31.6 PTH FGF23 CDC73 CASR CALCA BGLAP
11 hyperthyroidism 31.5 PTH CALCA BGLAP ALPP ALB
12 peptic ulcer disease 31.4 MEN1 GAST ALB
13 mammary paget's disease 31.4 PTH CALCA BGLAP
14 thyroid gland disease 31.3 RET PTH CALCA ALB
15 familial hypocalciuric hypercalcemia 31.2 RET PTHLH PTH MEN1 GCM2 CDC73
16 chief cell adenoma 31.2 PTH GCM2
17 constipation 31.2 RET GAST CHGA CALCA
18 graves disease 1 31.2 PTH CALCA ALB
19 clear cell adenoma 31.2 PTH CDC73
20 calcinosis 31.1 PTH FGF23 CALCA
21 papillary carcinoma 31.1 RET CHGA CALCA
22 zollinger-ellison syndrome 31.1 MEN1 GAST CHGA
23 hyperparathyroidism 31.1 VDR RET PTHLH PTH PRKAR1A NR1I3
24 thyroid gland medullary carcinoma 31.1 RET MEN1 GAST CHGA CALCA
25 hypocalciuric hypercalcemia, familial, type i 31.1 PTH CDC73 CASR
26 myeloma, multiple 31.0 PTHLH PTH CDKN1B BGLAP ALB
27 rickets 31.0 VDR PTH FGF23 CYP27B1 CASR BGLAP
28 uremia 31.0 VDR PTH MEN1 CASR ALB
29 multiple endocrine neoplasia, type iia 31.0 RET PTH MEN1 CDKN1B CDC73 CALCA
30 parathyroid adenoma 31.0 VDR RET PTHLH PTH PRKAR1A MEN1
31 hypercalcemia, infantile, 1 31.0 VDR PTHLH PTH1R PTH CASR CALCA
32 bone disease 30.9 VDR PTHLH PTH1R PTH NR1I3 FGF23
33 thyroid carcinoma, familial medullary 30.9 RET PRKAR1A MEN1 GAST CHGA CALCA
34 bone resorption disease 30.9 VDR PTHLH PTH1R PTH FGF23 CASR
35 parathyroid transitional clear cell adenoma 30.9 PTH MEN1
36 idiopathic hypercalciuria 30.9 VDR PRKAR1A NR1I3 CASR BGLAP
37 ossifying fibroma 30.8 PTH MEN1 FGF23 CDC73
38 fibrous dysplasia 30.8 PTHLH FGF23 CDC73 CALCA BGLAP
39 follicular adenoma 30.8 RET MEN1 CDKN1B CALCA
40 pituitary adenoma 30.8 PRKAR1A MEN1 CHGA CDKN1B
41 calciphylaxis 30.7 VDR PTH FGF23 CASR ALB
42 oncogenic osteomalacia 30.7 PTHLH PTH FGF23
43 nephrolithiasis, calcium oxalate 30.7 VDR PTHLH PTH MEN1 FGF23 CYP27B1
44 peptic ulcer perforation 30.7 GAST ALB
45 end stage renal failure 30.7 PTH GAST CALCA BGLAP ALB
46 brittle bone disorder 30.7 PTH1R PTH CALCA BGLAP
47 multiple endocrine neoplasia, type iv 30.7 RET PRKAR1A MEN1 CDKN1B CDC73
48 paraganglioma 30.6 RET MEN1 CHGA CALCA
49 metabolic acidosis 30.6 PTH FGF23 BGLAP ALB
50 gastrinoma 30.6 MEN1 GAST CHGA CASR

Graphical network of the top 20 diseases related to Primary Hyperparathyroidism:



Diseases related to Primary Hyperparathyroidism

Symptoms & Phenotypes for Primary Hyperparathyroidism

MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.43 ALB CASR CDC73 CDKN1B CHGA CYP27B1
2 homeostasis/metabolism MP:0005376 10.38 ALB CASR CDC73 CDKN1B CHGA CYP27B1
3 cellular MP:0005384 10.37 ALB CASR CDC73 CDKN1B CYP27B1 GCM2
4 growth/size/body region MP:0005378 10.36 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
5 cardiovascular system MP:0005385 10.35 ALB CDC73 CDKN1B CHGA FGF23 MEN1
6 digestive/alimentary MP:0005381 10.31 ALB CASR CDC73 CDKN1B FGF23 GAST
7 immune system MP:0005387 10.3 ALB CASR CDC73 CDKN1B CYP27B1 FGF23
8 mortality/aging MP:0010768 10.27 ALB CASR CDC73 CDKN1B CHGA FGF23
9 craniofacial MP:0005382 10.25 CDC73 CDKN1B CYP27B1 GCM2 MEN1 PRKAR1A
10 hematopoietic system MP:0005397 10.24 CASR CDC73 CDKN1B CYP27B1 FGF23 PRKAR1A
11 liver/biliary system MP:0005370 10.01 ALB CDC73 CDKN1B MEN1 NR1I3 PRKAR1A
12 limbs/digits/tail MP:0005371 9.98 CYP27B1 FGF23 PTH PTH1R PTHLH RET
13 muscle MP:0005369 9.97 ALB CASR CDC73 CDKN1B CHGA MEN1
14 neoplasm MP:0002006 9.91 ALB CDC73 CDKN1B GAST MEN1 PRKAR1A
15 renal/urinary system MP:0005367 9.9 ALB CASR CDC73 CDKN1B CHGA CYP27B1
16 reproductive system MP:0005389 9.7 CDC73 CDKN1B CHGA CYP27B1 FGF23 MEN1
17 skeleton MP:0005390 9.36 CASR CDC73 CDKN1B CYP27B1 FGF23 GCM2

Drugs & Therapeutics for Primary Hyperparathyroidism

Drugs for Primary Hyperparathyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
4
Cinacalcet Approved Phase 4 226256-56-0 156419
5
Denosumab Approved Phase 4 615258-40-7
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
9
Racepinephrine Approved Phase 4 329-65-7 838
10
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
11
Zoledronic Acid Approved Phase 4 118072-93-8 68740
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
13 Tocotrienol Investigational Phase 4 6829-55-6
14
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
15 Tocopherols Phase 4
16 Tocotrienols Phase 4
17 Calcimimetic Agents Phase 4
18 Epinephryl borate Phase 4
19 Angiotensin II Type 1 Receptor Blockers Phase 4
20 Giapreza Phase 4
21 Angiotensin Receptor Antagonists Phase 4
22 Angiotensinogen Phase 4
23 Vasodilator Agents Phase 4
24 Katacalcin Phase 4
25 calcitonin Phase 4
26
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
27
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
28
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
29
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
30
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
31
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795
32
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
33
Choline Approved, Nutraceutical Phase 3 62-49-7 305
34 Micronutrients Phase 2, Phase 3
35 Trace Elements Phase 2, Phase 3
36 Vitamins Phase 2, Phase 3
37 Nutrients Phase 2, Phase 3
38 Ergocalciferols Phase 2, Phase 3
39 Calciferol Phase 2, Phase 3
40 Vitamin D2 Phase 2, Phase 3
41 Sodium Channel Blockers Phase 2, Phase 3
42 Mineralocorticoids Phase 2, Phase 3
43 Natriuretic Agents Phase 2, Phase 3
44 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
45 Diuretics, Potassium Sparing Phase 2, Phase 3
46 diuretics Phase 2, Phase 3
47 Hormone Antagonists Phase 3
48 Calcium, Dietary Phase 3
49 Radiopharmaceuticals Phase 3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
2 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
3 Primary Hyperparathyroidism: Does a Systematic Treatment Improve the Calcium- and Bone Metabolism After Successful Surgery? - Part I Completed NCT01222026 Phase 4 Strontium Ranelate + Ca/Vitamin-D;Placebo
4 Randomized Controlled Trial of Vitamin D Repletion Regimens in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
5 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
6 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
7 Evaluation of a Parathyroid Hormone Suppression Test With Cinacalcet. Comparison: 1- With the Results of the Intravenous Calcium Suppression Test in Healthy Controls; 2- Between Healthy Controls and Patients With Primary Hyperparathyroidism. Completed NCT01103206 Phase 4 cinacalcet;cinacalcet dose 1;cinacalcet dose 2
8 Physiologic Interactions Between the Adrenal- and the Parathyroid Glands Completed NCT02572960 Phase 4 Valsartan;Placebo Valsartan
9 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
10 Management of Osteoporosis in Patients With Primary Hyperparathyroidism Recruiting NCT04085419 Phase 4 Denosumab 60 MG/ML Prefilled Syringe [Prolia];Zoledronic Acid
11 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
12 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
13 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
14 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
15 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
16 A Randomized Double-blind Placebo-controlled Study to Evaluate the Efficacy and Safety of Cinacalcet for the Treatment of Hypercalcemia in Subjects With Primary Hyperparathyroidism Unable to Undergo Parathyroidectomy Completed NCT00975221 Phase 3 Cinacalcet;Placebo
17 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
18 Comparison of Two Methods of Parathyroidectomy for Primary Hyperparathyroidism Completed NCT00006329 Phase 2, Phase 3
19 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
20 Clinical Value of 18F -Fluorocholine (18F-FCH) PET in Localizing Parathyroid Lesions: Comparison With 99mTc-sestamibi (MIBI) Scan. Completed NCT03555487 Phase 3 18F-choline PET
21 18F-Fluorocholine for the Detection of Parathyroid Adenomas Recruiting NCT03764007 Phase 2, Phase 3 Fluorocholine PET
22 Evaluating Alternative Medical Therapies in Primary Hyperparathyroidism Recruiting NCT02525796 Phase 2, Phase 3 eplerenone;amiloride;Placebo;Cinacalcet
23 Cholecalciferol Supplementation in Critically Ill Patients With Severe Vitamin D Deficiency in Intensive Care Unit- A Randomized Controlled Trial. Recruiting NCT02868827 Phase 2, Phase 3 Cholecalciferol
24 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Active, not recruiting NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
25 Phase II Trial of Parathyroid Hormone for the Treatment of Hypoparathyroidism Active, not recruiting NCT00856401 Phase 3 PTH1-84 in parent study
26 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 Not yet recruiting NCT04040946 Phase 3
27 Early Effect of Vitamin D in Primary Hyperparathyroidism Withdrawn NCT01329666 Phase 2, Phase 3
28 Primary Hyperparathyroidism: Does a Systematic Treatment Improve the Calcium and Bone Metabolism After Successful Surgery in Patients Without Osteoporosis? Unknown status NCT00973336 Phase 2 Calcium and vitamin D
29 Pre-operative Parathyroid Imaging: a Comparison of 11C-Methionine PET, 18F-FDG PET AND SPEC-CT for the Detection of Hyperfunctional Parathyroid Tissues Unknown status NCT01783002 Phase 2
30 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Safety, Tolerability, and Clinical Effects of Twice-daily Doses of an Oral Calcimimetic Agent (AMG 073) in Subjects With Primary Hyperparathyroidism (HPT) Completed NCT03776058 Phase 2 Cinacalcet;Placebo
31 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, 6-week Dose-Ranging Study to Assess the Safety, Pharmacokinetics, and Clinical Effects of an Oral Calcimimetic Agent (AMG 073) in Primary Hyperparathyroidism Completed NCT03774771 Phase 2 Cinacalcet;Placebo
32 A Double-Blind, Randomized, Placebo-Controlled, Multicenter Dose-Titration Study to Assess the Efficacy and Safety of Twice-Daily Dose Regimens of an Oral Calcimimetic Agent AMG 073 (Cinacalcet) in Primary Hyperparathyroidism (PHPT) Completed NCT00936650 Phase 2 placebo;cinacalcet
33 A Multicenter, Open-label Extension Study to Assess the Long-term Safety and Efficacy of an Oral Calcimimetic Agent AMG 073 (Cinacalcet) in Primary Hyperparathyroidism Completed NCT00936988 Phase 2 cinacalcet
34 Development of a Clinical Protocol to Use Intra-operative Near Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
35 Interest of the F18-choline as a Second Line of the Tracer for Detection of Parathyroid Adenomas Completed NCT02432599 Phase 2
36 A Phase 2 Trial Exploring the Clinical and Correlative Effects of Combining Doxycycline With Bone-Targeted Therapy in Patients With Metastatic Breast Cancer Completed NCT01847976 Phase 2 Doxycycline
37 Does Vitamin D Supplement Alter Serum Level of Glycosylated Hemoglobin in Adult Patients Between 34-74 Years With Type 2 Diabetes Mellitus and Vitamin D Deficiency? Completed NCT01354262 Phase 2
38 Phase 1 Study to Evaluate the Efficacy of Using Energy Specific Far Infrared Radiation Treatment for Hyperparathyroidism. Unknown status NCT00573573 Phase 1
39 A Pilot & Feasibility Study of the Imaging Potential of EC17 in Subjects Undergoing Parathyroidectomy for Primary Hyperparathyroidism. Completed NCT01996072 Phase 1 EC17
40 A Phase I Feasibility Study of Intra-operative Near Infra-red Fluorescent Imaging in Thyroid/Parathyroid Surgery With the Fluobeam(TM) System of Fluoptics Completed NCT01598727 Phase 1
41 Pilot Study to Detect and Assess the Effect of Vitamin D Replacement on Gland Size by 4DCT in Patients With Primary Hyperparathyroidism (PHPT) Completed NCT00538720 Phase 1 Vitamin D
42 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Completed NCT02404870 Phase 1 Placebo;Canagliflozin
43 Comparison of Skeletal and Mineral Metabolism Responses in Healthy African-Americans and Caucasians Using a Continuous Seven-Day Parathyroid Hormone (PTH) or Parathyroid Hormone-related Protein (PTHrP) Infusion Withdrawn NCT01333267 Phase 1 Parathyroid Hormone-related Protein (1-36);parathyroid hormone (1-34);PTH (1-34) and PTHrP (1-36)
44 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
45 Alterations in Muscle's Functional Characteristics After Parathyroid Surgery for Primary Hyperparathyroidism. Unknown status NCT03091140
46 Transcriptional and Translational Regulation of Vitamin D Receptor (VDR) and Calcium Sensing Receptor (CaSR) in Patients With Sporadic Primary Hyperparathyroidism Unknown status NCT01228786
47 Input of C11-Choline PET/CT in Localization of Parathyroid Adenoma Unknown status NCT01221896
48 A Prospective, Non Randomized, Open, Multicenter Trial to Evaluate Non Specific Symptoms and Quality of Life (SF 36) Before and After Surgery for Mild Primary Hyperparathyroidism Completed NCT01776502
49 Asymptomatic Primary Hyperparathyroidism: A Prospective, Randomized Trial Completed NCT00522028
50 PRIMARA: A Prospective Descriptive Observational Study to Review Mimpara (Cinacalcet) Use in Patients With Primary Hyperparathyroidism in Clinical Practice Completed NCT00928408 Cinacalcet

Search NIH Clinical Center for Primary Hyperparathyroidism

Cochrane evidence based reviews: hyperparathyroidism, primary

Genetic Tests for Primary Hyperparathyroidism

Genetic tests related to Primary Hyperparathyroidism:

# Genetic test Affiliating Genes
1 Primary Hyperparathyroidism 29

Anatomical Context for Primary Hyperparathyroidism

MalaCards organs/tissues related to Primary Hyperparathyroidism:

40
Bone, Thyroid, Kidney, Testes, Pituitary, Breast, Heart

Publications for Primary Hyperparathyroidism

Articles related to Primary Hyperparathyroidism:

(show top 50) (show all 9640)
# Title Authors PMID Year
1
PTH mutation with primary hyperparathyroidism and undetectable intact PTH. 61 6
18784115 2008
2
The carboxy-terminus of parathyroid hormone is essential for hormone processing and secretion. 6
1425431 1992
3
Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? 54 61
20058152 2010
4
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 54 61
20164288 2010
5
Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia? 54 61
20389108 2010
6
CT-MIBI-SPECT image fusion predicts multiglandular disease in hyperparathyroidism. 54 61
19705144 2010
7
One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C? 54 61
19958926 2009
8
Adenomatous human parathyroid cells exhibit impaired sensitivity to L-amino acids. 54 61
19567535 2009
9
Calcium-sensing receptor autoantibodies in primary hyperparathyroidism. 54 61
19520070 2009
10
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 54 61
19474519 2009
11
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. 54 61
18751724 2009
12
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. 54 61
19423460 2009
13
Potential utility of high preoperative levels of serum type I collagen markers in postmenopausal women with primary hyperparathyroidism with respect to their short-term variations after parathyroidectomy. 54 61
19172220 2009
14
The role of menin in parathyroid tumorigenesis. 54 61
20175455 2009
15
Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. 54 61
19092296 2008
16
Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene. 54 61
18996796 2008
17
Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation. 54 61
18753104 2008
18
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. 54 61
18338208 2008
19
The calcium sensing receptor: from understanding parathyroid calcium homeostasis to bone metastases. 54 61
18492387 2008
20
Impact of 25-hydroxyvitamin D deficiency on perioperative parathyroid hormone kinetics and results in patients with primary hyperparathyroidism. 54 61
18063090 2007
21
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. 54 61
17698911 2007
22
Regulatory mechanisms of circulating fibroblast growth factor 23 in parathyroid diseases. 54 61
17976083 2007
23
Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene. 54 61
17853337 2007
24
Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation. 54 61
17639062 2007
25
Inheritance, mode of inheritance, and candidate genes for primary hyperparathyroidism in Keeshonden. 54 61
17338170 2007
26
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. 54 61
17018660 2007
27
R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism. 54 61
17062884 2006
28
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. 54 61
17065424 2006
29
Primary hyperparathyroidism with a low-normal, atypical serum parathyroid hormone as shown by discordant immunoassay curves. 54 61
16849415 2006
30
Growth hormone and insulin-like growth factor binding protein-1 responses to oral glucose in patients with primary hyperparathyroidism. 54 61
16817815 2006
31
MEN1 family with a novel frameshift mutation. 54 61
16794369 2006
32
Dissimilar PTH, gastrin, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, primary hyperparathyroidism, and normal subjects: a useful tool for differential diagnosis. 54 61
16491288 2006
33
Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. 54 61
16381997 2006
34
Direct in vitro evidence of the suppressive effect of cinacalcet HCl on parathyroid hormone secretion in human parathyroid cells with pathologically reduced calcium-sensing receptor levels. 54 61
16816924 2006
35
Current pharmacological options for the management of primary hyperparathyroidism. 54 61
17137403 2006
36
[Referral of patients with parathyroid dysfunction to specialists--which patients should be referred to parathyroidologists?]. 54 61
16322680 2005
37
Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. 54 61
16356097 2005
38
Continuous PTH and PTHrP infusion causes suppression of bone formation and discordant effects on 1,25(OH)2 vitamin D. 54 61
16160737 2005
39
Relationship between parathyroid calcium-sensing receptor expression and potency of the calcimimetic, cinacalcet, in suppressing parathyroid hormone secretion in an in vivo murine model of primary hyperparathyroidism. 54 61
16189180 2005
40
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. 54 61
16061557 2005
41
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. 54 61
15870131 2005
42
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. 54 61
15572418 2005
43
Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. 54 61
15754732 2004
44
Fibroblast growth factor 23, parathyroid hormone, and 1alpha,25-dihydroxyvitamin D in surgically treated primary hyperparathyroidism. 54 61
15595334 2004
45
GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism. 54 61
15657585 2004
46
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 54 61
15531515 2004
47
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. 54 61
15292357 2004
48
Fibroblast growth factor (FGF)-23 in patients with primary hyperparathyroidism. 54 61
15248822 2004
49
Primary hyperparathyroidism associatiated with aldosterone-producing adrenocortical adenoma and breast cancer: relation to MEN1 gene. 54 61
15168774 2004
50
Expression of GCMB by intrathymic parathyroid hormone-secreting adenomas indicates their parathyroid cell origin. 54 61
14715818 2004

Variations for Primary Hyperparathyroidism

ClinVar genetic disease variations for Primary Hyperparathyroidism:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEN1 NM_000244.3(MEN1):c.152del (p.Asn51fs)deletion Pathogenic 217128 rs869312167 11:64577430-64577430 11:64809958-64809958
2 CDKN1B NM_004064.4(CDKN1B):c.-80C>TSNV Pathogenic 217125 rs551236750 12:12870694-12870694 12:12717760-12717760
3 PTH NM_000315.4(PTH):c.247C>T (p.Arg83Ter)SNV Pathogenic 13759 rs6256 11:13514053-13514053 11:13492506-13492506
4 MEN1 NM_000244.3(MEN1):c.371_372del (p.Val124fs)deletion Pathogenic 523339 rs1555166368 11:64577210-64577211 11:64809738-64809739
5 MEN1 NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr)SNV Conflicting interpretations of pathogenicity 41852 rs2959656 11:64572018-64572018 11:64804546-64804546
6 CDKN1B NM_004064.4(CDKN1B):c.-29_-26delAGAGshort repeat Conflicting interpretations of pathogenicity 217126 rs774454456 12:12870742-12870745 12:12717808-12717811
7 CDKN1B NM_004064.4(CDKN1B):c.397C>A (p.Pro133Thr)SNV Conflicting interpretations of pathogenicity 217127 rs137985549 12:12871170-12871170 12:12718236-12718236

Expression for Primary Hyperparathyroidism

Search GEO for disease gene expression data for Primary Hyperparathyroidism.

Pathways for Primary Hyperparathyroidism

Pathways related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 RET PTHLH PTH1R PTH PRKAR1A MEN1
2
Show member pathways
12.2 PTHLH PTH1R PTH CALCA
3 11.9 PTHLH PTH1R PTH CALCA
4 11.77 VDR PRKAR1A CASR ALB
5 11.47 PTHLH PTH1R PTH
6 11.36 VDR PTH1R PTH
7 11.3 VDR PTHLH PTH1R PTH GCM2 FGF23
8 11.29 VDR PTH1R PTH CYP27B1 CALCA BGLAP
9 11.12 VDR NR1I3 CYP27B1
10 11.02 VDR PTHLH PTH1R PTH PRKAR1A BGLAP
11 10.7 PTH1R PTH FGF23 BGLAP
12 10.5 VDR PTH CYP27B1

GO Terms for Primary Hyperparathyroidism

Cellular components related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 PTHLH PTH GAST FGF23 CHGA CALCA
2 cell GO:0005623 9.23 VDR PTH1R PTH MEN1 GCM2 FGF23

Biological processes related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 10 VDR NR1I3 MEN1 CDKN1B CALCA
2 cellular protein metabolic process GO:0044267 9.89 MEN1 FGF23 CALCA ALB
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.81 PTHLH PTH1R PTH CALCA
4 negative regulation of cell proliferation GO:0008285 9.8 VDR PTHLH PTH1R MEN1 CYP27B1 CDKN1B
5 ossification GO:0001503 9.77 PTH1R CASR BGLAP
6 skeletal system development GO:0001501 9.77 VDR PTHLH PTH1R PTH BGLAP
7 negative regulation of epithelial cell proliferation GO:0050680 9.76 MEN1 CDKN1B CDC73
8 decidualization GO:0046697 9.67 VDR MEN1 CYP27B1
9 regulation of bone mineralization GO:0030500 9.65 FGF23 CYP27B1 BGLAP
10 response to vitamin D GO:0033280 9.63 PTH CYP27B1 BGLAP
11 bone mineralization GO:0030282 9.62 PTHLH PTH1R CYP27B1 BGLAP
12 positive regulation of keratinocyte differentiation GO:0045618 9.61 VDR CYP27B1
13 cellular response to vitamin D GO:0071305 9.61 FGF23 CASR BGLAP
14 response to fibroblast growth factor GO:0071774 9.58 PTH CASR
15 vitamin D metabolic process GO:0042359 9.58 VDR FGF23 CYP27B1
16 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.57 PTH1R PTH
17 cellular phosphate ion homeostasis GO:0030643 9.56 GCM2 FGF23
18 phosphate ion homeostasis GO:0055062 9.55 PTH FGF23
19 cellular calcium ion homeostasis GO:0006874 9.55 VDR PTH1R PTH GCM2 CASR
20 cAMP metabolic process GO:0046058 9.54 PTHLH PTH
21 vitamin D catabolic process GO:0042369 9.52 FGF23 CYP27B1
22 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.13 VDR FGF23 CYP27B1
23 osteoblast development GO:0002076 8.92 PTHLH PTH1R MEN1 BGLAP

Molecular functions related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.46 VDR RET NR1I3 CASR
2 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH
3 hormone activity GO:0005179 8.92 PTHLH PTH GAST CALCA

Sources for Primary Hyperparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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