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 76 53 37 29 6 15
Hyperparathyroidism, Primary 53 44 73
Familial Benign Hypercalcemia 12 73
Hypocalciuric Hypercalcemia, Familial, Type 1 73
Familial Primary Hyperparathyroidism 12
Familial Hyperparathyroidism 73
Hyperparathyroidism Primary 55

Classifications:



External Ids:

Disease Ontology 12 DOID:11202
ICD10 33 E21.0 E21.3
ICD9CM 35 252.01
MeSH 44 D049950
NCIt 50 C48280
SNOMED-CT 68 36348003 54920000
KEGG 37 H00246

Summaries for Primary Hyperparathyroidism

NIH Rare Diseases : 53 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 Denosumab and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 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

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

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 33.7 CASR CDC73 MEN1 RET
2 hyperparathyroidism 1 33.5 CDC73 MEN1
3 hyperparathyroidism, neonatal severe 33.1 CASR CXADR NR1I3 PRKAR1A
4 hypocalciuric hypercalcemia, familial, type i 33.0 CASR PTH
5 hypocalciuric hypercalcemia, familial, type iii 32.8 CASR PTH PTHLH
6 familial isolated hyperparathyroidism 32.7 CASR CDC73 GAST GCM2 MEN1 PTH
7 parathyroid carcinoma 32.5 CALCA CASR CDC73 MEN1 PTH RET
8 multiple endocrine neoplasia, type i 31.7 CASR CDC73 CDKN1B CHGA GAST MEN1
9 hyperparathyroidism 31.4 BGLAP CALCA CASR CDC73 CDKN1B CHGA
10 adenoma 31.4 CASR CDC73 MEN1 RET
11 familial hypocalciuric hypercalcemia 31.0 CASR CDC73 PTH
12 multiple endocrine neoplasia 30.8 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
13 osteitis fibrosa 30.8 BGLAP CALCA CASR PTH
14 nephrolithiasis 30.7 CASR FGF23 PTH VDR
15 paget's disease of bone 30.6 BGLAP CALCA PTH
16 parathyroid adenoma 30.5 BGLAP CALCA CASR CDC73 CHGA GCM2
17 fibrous dysplasia 30.4 BGLAP CALCA FGF23
18 osteomalacia 30.4 BGLAP CALCA CASR FGF23 PTH VDR
19 thyroid cancer 30.4 BGLAP CALCA CDKN1B CHGA RET
20 nephrocalcinosis 30.3 ALB CASR PTH
21 pheochromocytoma 30.3 CALCA CHGA MEN1 RET
22 rickets 30.3 BGLAP FGF23 PTH VDR
23 multiple endocrine neoplasia, type iia 30.3 CALCA CDC73 MEN1 PTH RET
24 clear cell adenoma 30.2 MEN1 PTH PTHLH
25 zollinger-ellison syndrome 30.2 CHGA GAST MEN1
26 bone resorption disease 30.1 BGLAP CALCA PTH VDR
27 calciphylaxis 30.1 ALB CASR FGF23 PTH VDR
28 follicular adenoma 30.1 CALCA CDKN1B RET
29 parathyroid transitional clear cell adenoma 30.0 MEN1 PTH
30 idiopathic hypercalciuria 30.0 BGLAP CASR NR1I3 PRKAR1A VDR
31 kidney disease 29.9 ALB CASR FGF23 PTH VDR
32 renal osteodystrophy 29.9 BGLAP CALCA CASR FGF23 PTH VDR
33 constipation 29.9 CALCA GAST RET
34 bone disease 29.9 BGLAP CALCA CASR FGF23 PTH PTH1R
35 pseudohypoparathyroidism 29.9 BGLAP PTH PTH1R PTHLH
36 hypophosphatemia 29.9 BGLAP FGF23 PTH
37 invasive malignant thymoma 29.9 PTH PTHLH
38 autoimmune atrophic gastritis 29.8 CHGA GAST
39 metabolic acidosis 29.8 ALB BGLAP PTH
40 hypoparathyroidism 29.8 BGLAP CASR FGF23 GCM2 PTH PTH1R
41 uremia 29.7 ALB CASR PTH VDR
42 osteoporosis 29.6 ALB BGLAP CALCA CASR FGF23 PRKAR1A
43 chronic kidney failure 29.4 ALB BGLAP CALCA CASR FGF23 PTH
44 secondary hyperparathyroidism of renal origin 29.4 ALB BGLAP CALCA CASR FGF23 PTH
45 parathyroid gland disease 28.8 ALB BGLAP CALCA CASR CDC73 FGF23
46 hypocalciuric hypercalcemia, familial, type ii 11.6
47 hyperparathyroidism 4 11.4
48 pancreatitis 10.3
49 axial osteomalacia 10.3 BGLAP PTH
50 nemaline myopathy 4 10.3 CDKN1B MEN1

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.2 MEN1
2 Decreased viability GR00221-A-1 10.2 CDKN1B NR1I3 PRKAR1A RET
3 Decreased viability GR00221-A-2 10.2 NR1I3 PRKAR1A RET
4 Decreased viability GR00221-A-3 10.2 PRKAR1A
5 Decreased viability GR00221-A-4 10.2 PRKAR1A RET
6 Decreased viability GR00231-A 10.2 RET
7 Decreased viability GR00301-A 10.2 NR1I3 RET
8 Decreased viability GR00381-A-1 10.2 CALCA
9 Decreased viability GR00402-S-2 10.2 ALB BGLAP CALCA CASR CDC73 CDKN1B
10 no effect GR00402-S-1 9.62 ALB BGLAP CALCA CASR CDC73 CDKN1B

MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.47 ALB CASR CDC73 CDKN1B CHGA CXADR
2 homeostasis/metabolism MP:0005376 10.45 ALB CASR CDC73 CDKN1B CHGA CXADR
3 digestive/alimentary MP:0005381 10.4 ALB CASR CDC73 CDKN1B CXADR FGF23
4 cellular MP:0005384 10.39 ALB CASR CDC73 CDKN1B CXADR GCM2
5 growth/size/body region MP:0005378 10.37 CASR CDC73 CDKN1B CHGA FGF23 MEN1
6 cardiovascular system MP:0005385 10.36 CDC73 CDKN1B CHGA CXADR FGF23 MEN1
7 mortality/aging MP:0010768 10.36 ALB CASR CDC73 CDKN1B CHGA CXADR
8 immune system MP:0005387 10.32 CASR CDC73 CDKN1B CXADR FGF23 GAST
9 hematopoietic system MP:0005397 10.29 CASR CDC73 CDKN1B CXADR FGF23 PRKAR1A
10 craniofacial MP:0005382 10.22 CDC73 CDKN1B GCM2 MEN1 PRKAR1A PTH
11 embryo MP:0005380 10.15 CDC73 CDKN1B CXADR GCM2 MEN1 PRKAR1A
12 muscle MP:0005369 10.07 ALB CASR CDC73 CDKN1B CHGA CXADR
13 integument MP:0010771 10.06 CASR CDC73 CDKN1B FGF23 PRKAR1A PTHLH
14 liver/biliary system MP:0005370 10.03 ALB CDC73 CDKN1B MEN1 NR1I3 PRKAR1A
15 neoplasm MP:0002006 9.97 ALB CDC73 CDKN1B GAST MEN1 PRKAR1A
16 renal/urinary system MP:0005367 9.96 ALB CASR CDC73 CDKN1B CHGA FGF23
17 reproductive system MP:0005389 9.85 CDC73 CDKN1B CHGA FGF23 MEN1 NR1I3
18 respiratory system MP:0005388 9.56 CDC73 CDKN1B CXADR FGF23 PRKAR1A PTH1R
19 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 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Denosumab Approved Phase 4,Phase 3 615258-40-7
2
Alendronate Approved Phase 4,Not Applicable 66376-36-1, 121268-17-5 2088
3
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-14-6 5280793
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1406-16-2
5
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable 67-97-0 5280795 6221
6 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
9 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Ergocalciferols Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Calciferol Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Vitamin D2 Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
16 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
17 Cinacalcet Hydrochloride Phase 4,Phase 3,Phase 2,Not Applicable
18 Calcimimetic Agents Phase 4,Phase 3,Phase 2,Not Applicable
19 tannic acid Approved Phase 3
20
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
21
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
22
Spironolactone Approved Phase 2, Phase 3 52-01-7, 1952-01-7 5833
23
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872 150310
24
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
25 Sodium Channel Blockers Phase 2, Phase 3
26 Mineralocorticoids Phase 2, Phase 3
27 Diuretics, Potassium Sparing Phase 2, Phase 3
28 diuretics Phase 2, Phase 3
29 Epithelial Sodium Channel Blockers Phase 2, Phase 3
30 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
31 Natriuretic Agents Phase 2, Phase 3
32
Methylene blue Approved, Investigational Phase 1, Phase 2 61-73-4
33
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
34
Choline Approved, Nutraceutical Phase 2 62-49-7 305
35 Carbon-11 methionine Phase 2
36 Radiopharmaceuticals Phase 2
37 Fluorodeoxyglucose F18 Phase 2
38 Lipid Regulating Agents Phase 2
39 Nootropic Agents Phase 2
40 Gastrointestinal Agents Phase 2,Not Applicable
41 Antimetabolites Phase 2
42 Hypolipidemic Agents Phase 2
43
leucovorin Approved Phase 1 58-05-9 6006 143
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
45 Vitamin B9 Phase 1
46 Vitamin B Complex Phase 1
47 Folate Phase 1
48
Lithium carbonate Approved 554-13-2
49
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
50
Zinc Approved, Investigational Not Applicable 7440-66-6

Interventional clinical trials:

(show top 50) (show all 75)
# 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 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
18 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Enrolling by invitation NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
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 Near Infrared Fluorescent Imaging in Thyroid and Parathyroid Surgery With the Fluobeam(TM) System of Fluoptics Completed NCT01598727 Phase 1
31 Effects of Vitamin D Replacement in Patients With Primary Hyperparathyroidism (PHPT) Active, not recruiting NCT00538720 Phase 1 Vitamin D
32 Primary Hyperparathyroidism: Short-term Calcimimetics Treatment - Relevance for Parathyroid Surgery Decisions? Unknown status NCT02227264 Not Applicable Cinacalcet
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 Open Versus Video-Assisted Minimal-Invasive Parathyroid Surgery Completed NCT00877981 Not Applicable
44 PRIMARA: A Prospective Descriptive Observational Study to Review Mimpara (Cinacalcet) Use in Patients With Primary Hyperparathyroidism in Clinical Practice Completed NCT00928408 Cinacalcet
45 Oral Peptones Load in Normocalcemic and Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626 Not Applicable
46 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
47 The Midwest Head and Neck Cancer Consortium Multi-Institutional Parathyroid Registry Completed NCT01409798
48 Minimally Invasive Radioguided Parathyroidectomy Completed NCT01530919
49 A Randomized Study of Surgery vs No Surgery in Patients With Mild Asymptomatic Primary Hyperparathyroidism Completed NCT00004843 Not Applicable
50 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444

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:

41
Bone, Thyroid, Kidney, Testes, Liver, Endothelial, Pituitary

Publications for Primary Hyperparathyroidism

Articles related to Primary Hyperparathyroidism:

(show top 50) (show all 1799)
# Title Authors Year
1
Molecular genetic insights into sporadic primary hyperparathyroidism. ( 30475215 )
2019
2
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. ( 29108698 )
2018
3
Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. ( 29436275 )
2018
4
Selective parathyroid venous sampling in primary hyperparathyroidism: A systematic review and meta-analysis. ( 29756350 )
2018
5
Re: Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System. ( 29357552 )
2018
6
REDUCTION OF ARRHYTHMIAS IN PRIMARY HYPERPARATHYROIDISM, BY PARATHYROIDECTOMY, EVALUATED WITH 24 HOUR ECG MONITORING. ( 29875287 )
2018
7
Normocalcaemic primary hyperparathyroidism: a pragmatic approach. ( 29437827 )
2018
8
Long-Term Skeletal Outcomes of Primary Hyperparathyroidism Patients After Treatment with Parathyroidectomy: A Systematic Review and Meta-Analysis. ( 29381879 )
2018
9
The relationship between semiquantitative parameters derived from technetium-99m metoxyisobutylisonitrile dual-phase parathyroid single-photon emission computed tomography images and disease severity in primary hyperparathyroidism. ( 29360693 )
2018
10
Protective Effect of Denosumab on Bone in Older Women with Primary Hyperparathyroidism. ( 29364518 )
2018
11
Dual energy computed tomography should be the first line preoperative localization imaging test for primary hyperparathyroidism patients. ( 29370881 )
2018
12
Predictors of renal function and calcifications in primary hyperparathyroidism: A nested case-control study. ( 29955845 )
2018
13
Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )
2018
14
<sup>18</sup>F-Fluorocholine-Positron Emission Tomography/Computerised Tomography is Useful in Localising <sup>99m</sup>Tc-Sesta-methoxyisobutylisonitrile-Negative Parathyroid Cyst Causing Normocalcemic Primary Hyperparathyroidism. ( 29922354 )
2018
15
Classic Primary Hyperparathyroidism Versus Normocalcemic and Normohormonal Variants: Do They Really Differ? ( 29392434 )
2018
16
Risk factors of developing the hungry bone syndrome after parathyroidectomy for primary hyperparathyroidism. ( 29928157 )
2018
17
Trabecular Bone Score in Obese and Non-obese Subjects with Primary Hyperparathyroidism Before and After Parathyroidectomy. ( 29373705 )
2018
18
Clinical value of 11C-methionine positron emission tomography in persistent primary hyperparathyroidism-A case report with a mediastinal parathyroid adenoma. ( 29573598 )
2018
19
Morbidity in parathyroid surgery for renal disease is under reported: a comparison of outcomes with primary hyperparathyroidism. ( 29962299 )
2018
20
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
21
Effect of parathyroidectomy on quality of life and non-specific symptoms in normocalcaemic primary hyperparathyroidism. ( 29405278 )
2018
22
Gitelman syndrome and primary hyperparathyroidism: a rare association. ( 29871958 )
2018
23
Rare Undiagnosed Primary Amyloidosis Unmasked During Surgical Treatment of Primary Hyperparathyroidism: A Case Report. ( 29359203 )
2018
24
Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. ( 29115694 )
2018
25
A rare cause of primary hyperparathyroidism: Parathyroid lipoadenoma. ( 29778311 )
2018
26
Highly specific preoperative selection of solitary parathyroid adenoma cases in primary hyperparathyroidism by quantitative image analysis of the early-phase Technetium-99m sestamibi scan. ( 29877611 )
2018
27
Influence of concurrent chronic kidney disease on intraoperative parathyroid hormone monitoring during parathyroidectomy for primary hyperparathyroidism. ( 29128188 )
2018
28
Prevalence and Risk of Vertebral Fractures in Primary Hyperparathyroidism: A Nested Case-Control Study. ( 29734476 )
2018
29
Osteolytic lesions (brown tumors) of primary hyperparathyroidism misdiagnosed as multifocal giant cell tumor of the distal ulna and radius: a case report. ( 29936913 )
2018
30
Preoperative localization modalities in primary hyperparathyroidism: Correlation with postoperative cure. ( 29699804 )
2018
31
Primary hyperparathyroidism diagnosed and treated surgically during pregnancy. ( 29429952 )
2018
32
Acute pancreatitis as the first manifestation in a young boy with primary hyperparathyroidism. ( 29704155 )
2018
33
Clinical usefulness of intraoperative parathyroid hormone monitoring for primary hyperparathyroidism. ( 29441335 )
2018
34
The characteristics of clinical changes in primary hyperparathyroidism in Chinese patients. ( 29721808 )
2018
35
Clinical profile of juvenile primary hyperparathyroidism: a prospective study. ( 28527123 )
2018
36
Biochemical and pathologic factors affecting technetium-99m-methoxyisobutylisonitrile imaging results in patients with primary hyperparathyroidism. ( 29404934 )
2018
37
Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism. ( 29408534 )
2018
38
Re: Sporadic Primary Hyperparathyroidism and Stone Disease: A Comprehensive Metabolic Evaluation before and after Parathyroidectomy. ( 29783582 )
2018
39
Pre-operative localization of abnormal parathyroid tissue by<sup>99m</sup>Tc-sestamibi in primary hyperparathyroidism using four-quadrant site analysis: an evaluation of the predictive value of vitamin D deficiency. ( 29404903 )
2018
40
Value of <sup>123</sup>I/<sup>99m</sup>Tc-sestamibi parathyroid scintigraphy with subtraction SPECT/CT in primary hyperparathyroidism for directing minimally invasive parathyroidectomy. ( 29980283 )
2018
41
An Unusual Mass of Posterior Mediastinum: A Case of Retrotracheal Parathyroid Adenoma Presenting With Primary Hyperparathyroidism. ( 30479491 )
2018
42
Primary Hyperparathyroidism due to Parathyroid Adenoma Originated from Supernumerary Gland. ( 30275995 )
2018
43
VueBox® perfusion analysis of contrast-enhanced ultrasound (CEUS) examinations in patients with primary hyperparathyroidism for preoperative detection of parathyroid gland adenoma. ( 30347604 )
2018
44
A Rare Case of Primary Hyperparathyroidism Caused by a Giant Solitary Parathyroid Adenoma. ( 30405093 )
2018
45
Selective venous sampling supports localization of adenoma in primary hyperparathyroidism. ( 29511573 )
2018
46
Bone disease in primary hyperparathyroidism. ( 29051042 )
2018
47
Applicability of a shortened interpretation model for intraoperative parathyroid hormone monitoring in patients with primary hyperparathyroidism in an endemic goiter region. ( 30294345 )
2018
48
Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 30554440 )
2018
49
Combined ultrasound and Sestamibi scintigraphy provides accurate preoperative localisation for patients with primary hyperparathyroidism. ( 30286659 )
2018
50
Primary hyperparathyroidism: should surgery be performed on all patients? Current evidence and residual uncertainties. ( 30289185 )
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 PTH NM_000315.3(PTH): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs6256 GRCh37 Chromosome 11, 13514053: 13514053
2 PTH NM_000315.3(PTH): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs6256 GRCh38 Chromosome 11, 13492506: 13492506
3 MEN1 NM_130799.2(MEN1): c.1621G> A (p.Ala541Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2959656 GRCh37 Chromosome 11, 64572018: 64572018
4 MEN1 NM_130799.2(MEN1): c.1621G> A (p.Ala541Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2959656 GRCh38 Chromosome 11, 64804546: 64804546
5 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh38 Chromosome 11, 64809958: 64809958
6 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh37 Chromosome 11, 64577430: 64577430
7 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh37 Chromosome 12, 12870694: 12870694
8 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh38 Chromosome 12, 12717760: 12717760
9 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh37 Chromosome 12, 12870745: 12870748
10 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh38 Chromosome 12, 12717811: 12717814
11 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh38 Chromosome 12, 12718236: 12718236
12 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh37 Chromosome 12, 12871170: 12871170
13 MEN1 NM_000244.3(MEN1): c.371_372delTC (p.Val124Aspfs) deletion Pathogenic GRCh38 Chromosome 11, 64809738: 64809739
14 MEN1 NM_000244.3(MEN1): c.371_372delTC (p.Val124Aspfs) deletion Pathogenic 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 9.61 ALB BGLAP CALCA CHGA FGF23 GAST
2 endoplasmic reticulum lumen GO:0005788 9.46 ALB BGLAP FGF23 MEN1
3 extracellular region GO:0005576 9.32 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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