MCID: PRM005
MIFTS: 60

Primary Hyperparathyroidism

Categories: 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 77 54 38 30 6 15 17
Hyperparathyroidism, Primary 54 45 74
Hypocalciuric Hypercalcemia, Familial, Type 1 74
Familial Primary Hyperparathyroidism 12
Familial Benign Hypercalcemia 74
Familial Hyperparathyroidism 74
Hyperparathyroidism Primary 56

Classifications:



External Ids:

Disease Ontology 12 DOID:11202
KEGG 38 H00246
ICD9CM 36 252.01
MeSH 45 D049950
NCIt 51 C48280
SNOMED-CT 69 36348003 54920000
ICD10 34 E21.0 E21.3

Summaries for Primary Hyperparathyroidism

NIH Rare Diseases : 54 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 2 with jaw tumors and hyperparathyroidism 1. 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 Parathyroid hormone and Denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and kidney, and related phenotypes are no effect and endocrine/exocrine gland

Wikipedia : 77 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

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

(show top 50) (show all 321)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 33.9 CASR CDC73 MEN1 RET
2 hyperparathyroidism 1 33.8 CDC73 MEN1
3 hyperparathyroidism, neonatal severe 33.3 CASR CXADR NR1I3 PRKAR1A
4 familial isolated hyperparathyroidism 32.8 CASR CDC73 GAST GCM2 MEN1 PTH
5 parathyroid carcinoma 32.6 CALCA CASR CDC73 MEN1 PTH RET
6 adenoma 31.7 CASR CDC73 MEN1 RET
7 multiple endocrine neoplasia, type i 31.6 CASR CDC73 CDKN1B CHGA GAST MEN1
8 familial hypocalciuric hypercalcemia 31.2 CASR CDC73 PTH
9 osteitis fibrosa 31.0 BGLAP CALCA CASR PTH
10 nephrolithiasis 30.9 CASR FGF23 PTH VDR
11 multiple endocrine neoplasia 30.9 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
12 hyperparathyroidism 30.9 BGLAP CALCA CASR CDC73 CDKN1B CHGA
13 thyroid cancer 30.8 BGLAP CALCA CDKN1B CHGA RET
14 fibrous dysplasia 30.7 BGLAP CALCA FGF23
15 rickets 30.7 BGLAP FGF23 PTH VDR
16 osteomalacia 30.6 BGLAP CALCA CASR FGF23 PTH VDR
17 clear cell adenoma 30.5 MEN1 PTH PTHLH
18 multiple endocrine neoplasia, type iia 30.5 CALCA CDC73 MEN1 PTH RET
19 nephrocalcinosis 30.5 ALB CASR PTH
20 pheochromocytoma 30.4 CALCA CHGA MEN1 RET
21 zollinger-ellison syndrome 30.4 CHGA GAST MEN1
22 parathyroid transitional clear cell adenoma 30.3 MEN1 PTH
23 bone resorption disease 30.3 BGLAP CALCA PTH VDR
24 follicular adenoma 30.3 CALCA CDKN1B RET
25 parathyroid adenoma 30.3 BGLAP CALCA CASR CDC73 CHGA GCM2
26 calciphylaxis 30.2 ALB CASR FGF23 PTH VDR
27 metabolic acidosis 30.2 ALB BGLAP PTH
28 uremia 30.1 ALB CASR PTH VDR
29 constipation 30.1 CALCA GAST RET
30 kidney disease 30.1 ALB CASR FGF23 PTH VDR
31 invasive malignant thymoma 30.1 PTH PTHLH
32 hypophosphatemia 30.1 BGLAP FGF23 PTH
33 idiopathic hypercalciuria 30.1 BGLAP CASR NR1I3 PRKAR1A VDR
34 autoimmune atrophic gastritis 30.1 CHGA GAST
35 pseudohypoparathyroidism 30.0 BGLAP PTH PTH1R PTHLH
36 renal osteodystrophy 30.0 BGLAP CALCA CASR FGF23 PTH VDR
37 thyroid cancer, nonmedullary, 2 29.9 CALCA CHGA MEN1 RET
38 thyroid carcinoma, familial medullary 29.8 CALCA CHGA GAST MEN1 RET
39 bone disease 29.7 ALPP BGLAP CALCA CASR FGF23 PTH
40 hypoparathyroidism 29.6 ALPP BGLAP CASR FGF23 GCM2 PTH
41 osteoporosis 29.6 ALPP BGLAP CALCA CASR FGF23 PRKAR1A
42 chronic kidney failure 29.3 ALB BGLAP CALCA CASR FGF23 PTH
43 parathyroid gland disease 28.5 ALB BGLAP CALCA CASR CDC73 FGF23
44 hyperparathyroidism 4 11.4
45 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.6
46 hypocalciuric hypercalcemia, familial, type i 10.5 CASR PTH
47 axial osteomalacia 10.5 BGLAP PTH
48 nemaline myopathy 4 10.5 CDKN1B MEN1
49 pancreatitis 10.5
50 fibrogenesis imperfecta ossium 10.5 CALCA PTH

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



Diseases related to Primary Hyperparathyroidism

Symptoms & Phenotypes for Primary Hyperparathyroidism

GenomeRNAi Phenotypes related to Primary Hyperparathyroidism according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ALB ALPP BGLAP CALCA CASR CDC73

MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.43 ALB CASR CDC73 CDKN1B CHGA CXADR
2 homeostasis/metabolism MP:0005376 10.41 ALB CASR CDC73 CDKN1B CHGA CXADR
3 cellular MP:0005384 10.38 ALB CASR CDC73 CDKN1B CXADR GCM2
4 digestive/alimentary MP:0005381 10.36 ALB CASR CDC73 CDKN1B CXADR FGF23
5 cardiovascular system MP:0005385 10.35 CDC73 CDKN1B CHGA CXADR FGF23 MEN1
6 mortality/aging MP:0010768 10.33 ALB CASR CDC73 CDKN1B CHGA CXADR
7 growth/size/body region MP:0005378 10.32 CASR CDC73 CDKN1B CHGA FGF23 MEN1
8 immune system MP:0005387 10.27 CASR CDC73 CDKN1B CXADR FGF23 GAST
9 hematopoietic system MP:0005397 10.24 CASR CDC73 CDKN1B CXADR FGF23 PRKAR1A
10 craniofacial MP:0005382 10.21 CDC73 CDKN1B GCM2 MEN1 PRKAR1A PTH
11 embryo MP:0005380 10.14 CDC73 CDKN1B CXADR GCM2 MEN1 PRKAR1A
12 muscle MP:0005369 10.07 ALB CASR CDC73 CDKN1B CHGA CXADR
13 liver/biliary system MP:0005370 10.03 ALB CDC73 CDKN1B MEN1 NR1I3 PRKAR1A
14 neoplasm MP:0002006 9.97 ALB CDC73 CDKN1B GAST MEN1 PRKAR1A
15 renal/urinary system MP:0005367 9.96 ALB CASR CDC73 CDKN1B CHGA FGF23
16 reproductive system MP:0005389 9.85 CDC73 CDKN1B CHGA FGF23 MEN1 NR1I3
17 respiratory system MP:0005388 9.56 CDC73 CDKN1B CXADR FGF23 PRKAR1A PTH1R
18 skeleton MP:0005390 9.32 CASR CDC73 CDKN1B FGF23 GCM2 PRKAR1A

Drugs & Therapeutics for Primary Hyperparathyroidism

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 9002-64-6
2
Denosumab Approved Phase 4,Phase 3 615258-40-7
3
Alendronate Approved Phase 4,Not Applicable 66376-36-1, 121268-17-5 2088
4
Cinacalcet Approved Phase 4,Phase 3,Phase 2,Not Applicable 226256-56-0 156419
5
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1406-16-2
7
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7440-70-2 271
8
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable 67-97-0 5280795 6221
9 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Calciferol Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Ergocalciferols Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Vitamin D2 Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Nutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
20 Calcimimetic Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
22
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
23
tannic acid Approved Phase 3 1401-55-4
24
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
25
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
26
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
27
Choline Approved, Nutraceutical Phase 2, Phase 3 62-49-7 305
28 Nootropic Agents Phase 2, Phase 3
29 Lipid Regulating Agents Phase 2, Phase 3
30 Gastrointestinal Agents Phase 2, Phase 3,Not Applicable
31 Hypolipidemic Agents Phase 2, Phase 3
32 Antimetabolites Phase 2, Phase 3
33 Natriuretic Agents Phase 2, Phase 3
34 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
35 Sodium Channel Blockers Phase 2, Phase 3
36 Epithelial Sodium Channel Blockers Phase 2, Phase 3
37 Mineralocorticoids Phase 2, Phase 3
38 Antihypertensive Agents Phase 2, Phase 3
39 diuretics Phase 2, Phase 3
40 Diuretics, Potassium Sparing Phase 2, Phase 3
41
Methylene blue Approved, Investigational Phase 1, Phase 2 61-73-4
42
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
43 Fluorodeoxyglucose F18 Phase 2
44 Radiopharmaceuticals Phase 2
45 Carbon-11 methionine Phase 2
46
leucovorin Approved Phase 1 58-05-9 6006 143
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
48 Vitamin B Complex Phase 1
49 Folate Phase 1
50 Vitamin B9 Phase 1

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
2 Systematic Treatment After Successful Surgical Treatment for Primary Hyperparathyroidism With Strontium Ranelate Completed NCT01222026 Phase 4 Strontium Ranelate + Ca/Vitamin-D;Placebo
3 Efficacy of Cinacalcet in the Control of Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
4 Evaluation of a Cincalcet Suppression Test Completed NCT01103206 Phase 4 cinacalcet;cinacalcet dose 1;cinacalcet dose 2
5 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
6 A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer Completed NCT00037518 Phase 4 AMG 073
7 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
8 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
9 Efficacy and Safety Study of Cinacalcet for the Treatment of Hypercalcemia in Patients With Primary Hyperparathyroidism Unable to Undergo Parathyroidectomy Completed NCT00975221 Phase 3 Cinacalcet;Placebo
10 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
11 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
12 Comparison of Two Methods of Parathyroidectomy for Primary Hyperparathyroidism Completed NCT00006329 Phase 2, Phase 3
13 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
14 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
15 Evaluating Alternative Medical Therapies in Primary Hyperparathyroidism Recruiting NCT02525796 Phase 2, Phase 3 eplerenone;amiloride;Placebo;Cinacalcet
16 18F-Fluorocholine for the Detection of Parathyroid Adenomas Recruiting NCT03764007 Phase 2, Phase 3 Fluorocholine PET
17 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Active, not recruiting NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
18 Phase 3 Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Active, not recruiting NCT03280264 Phase 3 KHK7580
19 Primary Hyperparathyroidism (PHPT): Early Effect of Vitamin D Withdrawn NCT01329666 Phase 2, Phase 3
20 Primary Hyperparathyroidism: Does a Systematic Treatment Improve the Calcium and Bone Metabolism After Surgery? Unknown status NCT00973336 Phase 2 Calcium and vitamin D
21 11C Methionine PET for the Detection of Hyperfunctional Parathyroid Tissues Unknown status NCT01783002 Phase 2
22 Safety, Pharmacokinetics, and Clinical Effects of Cinacalcet (AMG 073) in Primary Hyperparathyroidism Completed NCT03774771 Phase 2 Cinacalcet;Placebo
23 Safety, Tolerability, and Clinical Effects of Twice-daily Doses of Cinacalcet (AMG 073) in Adults With Primary Hyperparathyroidism (HPT) Completed NCT03776058 Phase 2 Cinacalcet;Placebo
24 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
25 A 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
26 Interest of the F18-choline as a Second Line of the Tracer for Detection of Parathyroid Adenomas Completed NCT02432599 Phase 2
27 Intra-operative Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
28 Energy Specific Far Infrared Radiation Treatment for Hyperparathyroidism Unknown status NCT00573573 Phase 1
29 EC17 for Intraoperative Imaging for Parathyroidectomy Completed NCT01996072 Phase 1 EC17
30 Effects of Vitamin D Replacement in Patients With Primary Hyperparathyroidism (PHPT) Completed NCT00538720 Phase 1 Vitamin D
31 Near Infrared Fluorescent Imaging in Thyroid and Parathyroid Surgery With the Fluobeam(TM) System of Fluoptics Completed NCT01598727 Phase 1
32 Alterations in Muscle's Functional Characteristics After Parathyroid Surgery for Primary Hyperparathyroidism. Unknown status NCT03091140
33 Regulation of Vitamin D Receptor (VDR),Calcium Sensing Receptor (CaSR), Cyclin D1,Ki67 and Proliferating Cell Nuclear Antigen (PCNA) in Primary Hyperparathyroidism Unknown status NCT01228786
34 Differentially Expressed Proteins in Sporadic Parathyroid Tumors Unknown status NCT01647503
35 Input of C11-Choline PET/CT in Localization of Parathyroid Adenoma Unknown status NCT01221896
36 Effects of Parathyroidectomy on Cardiovascular Risk Factors in Primary Hyperparathyroidism Completed NCT01057732
37 Primary Hyperparathyroidism: Non-classical Manifestations Completed NCT00432939
38 OPG/Soluble RANKL (sRANKL) and Bone Mineral Density in Primary Hyperparathyroidism Completed NCT01889134 Not Applicable Sedron (alendronate)
39 Evaluation of Non Specific Symptoms and Quality of Life Before and After Surgery for Mild Primary Hyperparathyroidism Completed NCT01776502
40 Bone Architectural Parameters in Postmenopausal Women Affected With Primary Hyperparathyroidism Completed NCT02539498 Not Applicable
41 Radius Loading in Primary Hyperparathyroidism Completed NCT01571843 Not Applicable
42 Asymptomatic Primary Hyperparathyroidism: A Prospective, Randomized Trial Completed NCT00522028
43 Vitamin D Supplementation After Parathyroid Surgery Completed NCT00982722 Not Applicable cholecalciferol and calcium carbonate;calcium carbonate
44 Open Versus Video-Assisted Minimal-Invasive Parathyroid Surgery Completed NCT00877981 Not Applicable
45 PRIMARA: A Prospective Descriptive Observational Study to Review Mimpara (Cinacalcet) Use in Patients With Primary Hyperparathyroidism in Clinical Practice Completed NCT00928408 Cinacalcet
46 Oral Peptones Load in Normocalcemic and Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626 Not Applicable
47 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
48 The Midwest Head and Neck Cancer Consortium Multi-Institutional Parathyroid Registry Completed NCT01409798
49 Minimally Invasive Radioguided Parathyroidectomy Completed NCT01530919
50 A Randomized Study of Surgery vs No Surgery in Patients With Mild Asymptomatic Primary Hyperparathyroidism Completed NCT00004843 Not Applicable

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 30

Anatomical Context for Primary Hyperparathyroidism

MalaCards organs/tissues related to Primary Hyperparathyroidism:

42
Bone, Thyroid, Kidney, Testes, Breast, Endothelial, Liver

Publications for Primary Hyperparathyroidism

Articles related to Primary Hyperparathyroidism:

(show top 50) (show all 3202)
# Title Authors Year
1
Primary hyperparathyroidism due to ectopic parathyroid adenoma in an adolescent: a case report and review of the literature. ( 30805889 )
2019
2
Importance of Parathyroid Hormone Needle Aspiration Washout in Adenoma Localization in Primary Hyperparathyroidism. ( 30834899 )
2019
3
A Case of Pregnancy Complicated by Primary Hyperparathyroidism Due to a Parathyroid Adenoma. ( 30636767 )
2019
4
Evaluation of endothelial function and diastolic function in patients with primary hyperparathyroidism before and after parathyroidectomy. ( 30768074 )
2019
5
Limited clinical utility of intraoperative frozen section during parathyroidectomy for treatment of primary hyperparathyroidism. ( 30771863 )
2019
6
Vitamin A and Hydrochlorothiazide Causing Severe Hypercalcemia in a Patient With Primary Hyperparathyroidism. ( 30791717 )
2019
7
Primary Hyperparathyroidism: Redefining Cure. ( 30819301 )
2019
8
Diagnostic Performance of 4D CT and Sestamibi SPECT/CT in Localizing Parathyroid Adenomas in Primary Hyperparathyroidism. ( 30835187 )
2019
9
The evaluation of preoperative and postoperative fetuin-A levels in patients with primary hyperparathyroidism. ( 30837418 )
2019
10
Normocalcemic Primary Hyperparathyroidism in Adults Without a History of Nephrolithiasis or Fractures: A Prospective Study. ( 30840998 )
2019
11
Minimally Invasive Parathyroidectomy without Intraoperative PTH Performed after Positive Ultrasonography as the only Diagnostic Method in Patients with Primary Hyperparathyroidism. ( 30847526 )
2019
12
Effect of Parathyroidectomy on cardiovascular risk factors in primary hyperparathyroidism: A randomised clinical trial. ( 30860588 )
2019
13
Trabecular Bone Score, Bone Mineral Density and Bone Markers in Patients with Primary Hyperparathyroidism 2 Years After Parathyroidectomy. ( 30861565 )
2019
14
US-guided microwave ablation for primary hyperparathyroidism: a safety and efficacy study. ( 30888479 )
2019
15
Morning blood pressure surge increases in patients with hypertensive primary hyperparathyroidism and is independently associated with serum calcium level. ( 30895812 )
2019
16
Attenuated Dentin Matrix Protein 1 Enhances Fibroblast Growth Factor 23 in Calvaria in Primary Hyperparathyroidism Model. ( 30916761 )
2019
17
Predictors of nephrolithiasis, osteoporosis and mortality in primary hyperparathyroidism. ( 30916764 )
2019
18
Biochemical and Skeletal Outcomes of Parathyroidectomy for Normocalcemic (Incipient) Primary Hyperparathyroidism. ( 30406488 )
2019
19
The diagnostic value of parathyroid hormone washout in primary hyperparathyroidism patients with negative or equivocal 99 m Tc-MIBI results. ( 30461227 )
2019
20
Molecular genetic insights into sporadic primary hyperparathyroidism. ( 30475215 )
2019
21
Outcomes of parathyroidectomy for primary hyperparathyroidism with nonlocalizing preoperative imaging. ( 30584672 )
2019
22
Parathyroid scintigraphy in primary hyperparathyroidism: comparison between double-phase and subtraction techniques and possible affecting factors. ( 30600433 )
2019
23
Concomitant Thyroid Cancer in Patients with Multiple Endocrine Neoplasia Type 1 Undergoing Surgery for Primary Hyperparathyroidism. ( 30608029 )
2019
24
Synchronous primary hyperparathyroidism, follicular thyroid carcinoma, and papillary thyroid carcinoma. ( 30614854 )
2019
25
Bone mineral density evolution and incidence of fractures in a cohort of patients with primary hyperparathyroidism treated with parathyroid surgery vs active surveillance during 6 years of follow-up. ( 30616776 )
2019
26
Primary Hyperparathyroidism. ( 30641515 )
2019
27
Familial and Hereditary Forms of Primary Hyperparathyroidism. ( 30641519 )
2019
28
Asymptomatic Primary Hyperparathyroidism. ( 30641522 )
2019
29
The role of ultrasound in the diagnosis of the coexistence of primary hyperparathyroidism and non-medullary thyroid carcinoma. ( 30658569 )
2019
30
18F-Fluorocholine PET/CT and Parathyroid 4D Computed Tomography for Primary Hyperparathyroidism: The Challenge of Reoperative Patients. ( 30659347 )
2019
31
Perioperative characteristics, histological diagnosis, and outcome in cats undergoing surgical treatment of primary hyperparathyroidism. ( 30666680 )
2019
32
Intraoperative Parathyroid Autofluorescence Detection in Patients with Primary Hyperparathyroidism. ( 30675703 )
2019
33
Bilateral Neck Exploration for Sporadic Primary Hyperparathyroidism: Utilization Patterns in 5,597 Patients Undergoing Parathyroidectomy in the Collaborative Endocrine Surgery Quality Improvement Program. ( 30677525 )
2019
34
Does Primary Hyperparathyroidism Have an Association with Thyroid Papillary Cancer? A Retrospective Cohort Study. ( 30680499 )
2019
35
The role of combined techniques of scintigraphy and SPECT/CT in the diagnosis of primary hyperparathyroidism: A case report. ( 30681579 )
2019
36
Potential Utility of Contrast-Enhanced Ultrasound in the Preoperative Evaluation of Primary Hyperparathyroidism. ( 30693978 )
2019
37
BIOCHEMICAL DYNAMICS OF UNTREATED PRIMARY HYPERPARATHYROIDISM: AN OBSERVATIONAL STUDY. ( 30720335 )
2019
38
Update of the role of Nuclear Medicine techniques in the pre-surgical localization of primary hyperparathyroidism. ( 30738915 )
2019
39
A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism. ( 30739106 )
2019
40
Factors associated with glomerular filtration rate variation in primary hyperparathyroidism after parathyroidectomy ( 30761868 )
2019
41
Hypercalcaemic Crisis Due to Primary Hyperparathyroidism: Report of Two Cases. ( 30766921 )
2019
42
Primary Hyperparathyroidism in Pregnancy: Maternofetal Outcomes at a Quaternary Referral Obstetric Hospital, 2000 Through 2015. ( 30247615 )
2019
43
Combined ultrasound and Sestamibi scintigraphy provides accurate preoperative localisation for patients with primary hyperparathyroidism. ( 30286659 )
2019
44
Primary hyperparathyroidism: should surgery be performed on all patients? Current evidence and residual uncertainties. ( 30289185 )
2019
45
Intraoperative parathyroid hormone testing in primary hyperparathyroidism surgery: time for giving up? ( 30357494 )
2019
46
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. ( 29108698 )
2018
47
Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. ( 29436275 )
2018
48
Selective parathyroid venous sampling in primary hyperparathyroidism: A systematic review and meta-analysis. ( 29756350 )
2018
49
Re: Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System. ( 29357552 )
2018
50
REDUCTION OF ARRHYTHMIAS IN PRIMARY HYPERPARATHYROIDISM, BY PARATHYROIDECTOMY, EVALUATED WITH 24 HOUR ECG MONITORING. ( 29875287 )
2018

Variations for Primary Hyperparathyroidism

ClinVar genetic disease variations for Primary Hyperparathyroidism:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh38 Chromosome 11, 64809958: 64809958
2 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh37 Chromosome 11, 64577430: 64577430
3 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh37 Chromosome 12, 12870694: 12870694
4 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh38 Chromosome 12, 12717760: 12717760
5 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh37 Chromosome 12, 12870745: 12870748
6 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh38 Chromosome 12, 12717811: 12717814
7 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh38 Chromosome 12, 12718236: 12718236
8 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh37 Chromosome 12, 12871170: 12871170
9 PTH NM_000315.3(PTH): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs6256 GRCh37 Chromosome 11, 13514053: 13514053
10 PTH NM_000315.3(PTH): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs6256 GRCh38 Chromosome 11, 13492506: 13492506
11 MEN1 NM_130799.2(MEN1): c.1621G> A (p.Ala541Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2959656 GRCh37 Chromosome 11, 64572018: 64572018
12 MEN1 NM_130799.2(MEN1): c.1621G> A (p.Ala541Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2959656 GRCh38 Chromosome 11, 64804546: 64804546
13 MEN1 NM_000244.3(MEN1): c.371_372delTC (p.Val124Aspfs) deletion Pathogenic rs1555166368 GRCh38 Chromosome 11, 64809738: 64809739
14 MEN1 NM_000244.3(MEN1): c.371_372delTC (p.Val124Aspfs) deletion Pathogenic rs1555166368 GRCh37 Chromosome 11, 64577210: 64577211

Expression for Primary Hyperparathyroidism

Search GEO for disease gene expression data for Primary Hyperparathyroidism.

Pathways for Primary Hyperparathyroidism

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 ALB BGLAP CALCA CHGA FGF23 GAST
2 endoplasmic reticulum lumen GO:0005788 9.46 ALB BGLAP FGF23 MEN1
3 extracellular region GO:0005576 9.28 ALB BGLAP CALCA CHGA CXADR FGF23

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.99 CALCA CDKN1B MEN1 NR1I3 VDR
2 regulation of signaling receptor activity GO:0010469 9.95 CALCA FGF23 GAST PTH PTHLH
3 response to drug GO:0042493 9.91 BGLAP CDKN1B PTH RET
4 cellular protein metabolic process GO:0044267 9.86 ALB CALCA FGF23 MEN1
5 negative regulation of cell proliferation GO:0008285 9.85 CDC73 CDKN1B MEN1 PTH1R PTHLH VDR
6 ossification GO:0001503 9.76 BGLAP CASR PTH1R
7 skeletal system development GO:0001501 9.72 BGLAP PTH PTH1R PTHLH VDR
8 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.71 CALCA PTH PTH1R PTHLH
9 negative regulation of epithelial cell proliferation GO:0050680 9.69 CDC73 CDKN1B MEN1
10 negative regulation of chondrocyte differentiation GO:0032331 9.6 PTH PTHLH
11 vitamin D metabolic process GO:0042359 9.58 FGF23 VDR
12 negative regulation of hormone secretion GO:0046888 9.57 CHGA FGF23
13 cellular phosphate ion homeostasis GO:0030643 9.54 FGF23 GCM2
14 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.52 PTH PTH1R
15 phosphate ion homeostasis GO:0055062 9.49 FGF23 PTH
16 response to fibroblast growth factor GO:0071774 9.48 CASR PTH
17 cAMP metabolic process GO:0046058 9.46 PTH PTHLH
18 bone mineralization GO:0030282 9.46 BGLAP PTH PTH1R PTHLH
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 FGF23 VDR
20 cellular response to vitamin D GO:0071305 9.43 BGLAP CASR FGF23
21 osteoblast development GO:0002076 9.26 BGLAP MEN1 PTH1R PTHLH
22 cellular calcium ion homeostasis GO:0006874 9.1 CALCA CASR GCM2 PTH PTH1R VDR

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 8.96 PTH PTHLH
2 hormone activity GO:0005179 8.92 CALCA GAST PTH PTHLH

Sources for Primary Hyperparathyroidism

3 CDC
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