MCID: PRM005
MIFTS: 59

Primary Hyperparathyroidism

Categories: Rare diseases, Endocrine diseases, Genetic 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
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 3. 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 endocrine/exocrine gland and homeostasis/metabolism

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 241)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 34.1 CASR CDC73 MEN1 RET
2 hyperparathyroidism 3 34.0 CDC73 GCM2 MEN1
3 hyperparathyroidism 1 33.9 CDC73 MEN1
4 hyperparathyroidism, neonatal severe 32.9 CASR CXADR NR1I3 PRKAR1A
5 parathyroid carcinoma 32.5 CALCA CASR CDC73 MEN1 PTH RET
6 adenoma 31.7 CASR CDC73 MEN1 RET
7 familial hypocalciuric hypercalcemia 31.7 CASR CDC73 PTH
8 osteitis fibrosa 31.2 BGLAP CALCA CASR PTH
9 parathyroid transitional clear cell adenoma 30.9 MEN1 PTH
10 clear cell adenoma 30.7 MEN1 PTH PTHLH
11 paget's disease of bone 30.7 BGLAP CALCA PTH
12 fibrous dysplasia 30.7 BGLAP CALCA FGF23
13 pheochromocytoma 30.6 CALCA CHGA MEN1 RET
14 follicular adenoma 30.5 CALCA CDKN1B RET
15 multiple endocrine neoplasia, type iia 30.5 CALCA CDC73 MEN1 PTH RET
16 multiple endocrine neoplasia, type i 30.5 CASR CDC73 CDKN1B CHGA GAST MEN1
17 multiple endocrine neoplasia 30.4 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
18 carcinoid syndrome 30.4 CALCA CHGA MEN1
19 rickets 30.4 BGLAP FGF23 PTH VDR
20 zollinger-ellison syndrome 30.3 CHGA GAST MEN1
21 hypophosphatemia 30.3 BGLAP FGF23 PTH
22 autoimmune atrophic gastritis 30.2 CHGA GAST
23 invasive malignant thymoma 30.2 PTH PTHLH
24 calciphylaxis 30.1 ALB CASR FGF23 PTH VDR
25 uremia 30.0 ALB CASR PTH VDR
26 constipation 29.9 CALCA GAST RET
27 pseudohypoparathyroidism 29.9 BGLAP PTH PTH1R PTHLH
28 osteomalacia 29.9 BGLAP CALCA CASR FGF23 PTHLH VDR
29 kidney disease 29.7 ALB CASR FGF23 PTH VDR
30 renal osteodystrophy 29.4 BGLAP CALCA CASR FGF23 PTH VDR
31 parathyroid adenoma 28.9 BGLAP CALCA CASR CDC73 CHGA GCM2
32 secondary hyperparathyroidism of renal origin 28.9 ALB BGLAP CALCA CASR FGF23 PTH
33 chronic kidney failure 28.9 ALB BGLAP CALCA CASR FGF23 PTH
34 hypoparathyroidism 28.9 BGLAP CASR FGF23 GCM2 PTH PTH1R
35 bone disease 28.6 BGLAP CALCA CASR FGF23 PTH PTH1R
36 hyperparathyroidism 28.4 BGLAP CALCA CASR CDC73 CDKN1B CHGA
37 osteoporosis 27.7 ALB BGLAP CALCA CASR FGF23 PRKAR1A
38 parathyroid gland disease 27.5 BGLAP CALCA CASR CDC73 FGF23 GCM2
39 axial osteomalacia 11.0 BGLAP PTH
40 hyperparathyroidism 4 10.9
41 chief cell adenoma 10.9 GCM2 PTH
42 fibrogenesis imperfecta ossium 10.9 CALCA PTH
43 hypoparathyroidism, familial isolated 10.9 CASR GCM2 PTH
44 endocrine organ benign neoplasm 10.8 CDC73 MEN1 PTH
45 organ system benign neoplasm 10.8 CDC73 MEN1 PTH
46 hypophosphatasia, adult 10.8 BGLAP CALCA PTH
47 autoimmune hypoparathyroidism 10.8 CASR PRKAR1A
48 multiple endocrine neoplasia, type iib 10.8 CALCA MEN1 RET
49 glucocorticoid-induced osteoporosis 10.7 BGLAP CALCA PTH
50 pancreatic somatostatinoma 10.7 CALCA MEN1

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:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.47 CXADR GCM2 MEN1 FGF23 CHGA GAST
2 homeostasis/metabolism MP:0005376 10.45 CXADR GCM2 MEN1 FGF23 CHGA GAST
3 digestive/alimentary MP:0005381 10.4 CXADR MEN1 FGF23 GAST CASR CDKN1B
4 cellular MP:0005384 10.39 CXADR GCM2 CASR CDKN1B CDC73 ALB
5 growth/size/body region MP:0005378 10.37 MEN1 FGF23 CHGA CASR CDKN1B CDC73
6 cardiovascular system MP:0005385 10.36 CXADR MEN1 FGF23 CHGA CDKN1B CDC73
7 mortality/aging MP:0010768 10.36 CXADR GCM2 MEN1 FGF23 CHGA GAST
8 immune system MP:0005387 10.32 CXADR MEN1 FGF23 GAST CASR CDKN1B
9 hematopoietic system MP:0005397 10.29 CXADR FGF23 CASR CDKN1B CDC73 PTH1R
10 craniofacial MP:0005382 10.22 GCM2 MEN1 CDKN1B CDC73 PTH1R PRKAR1A
11 embryo MP:0005380 10.15 GCM2 CXADR CDKN1B CDC73 PTH1R PRKAR1A
12 integument MP:0010771 10.06 CDKN1B FGF23 CDC73 CASR PRKAR1A PTHLH
13 muscle MP:0005369 10.02 CXADR ALB CASR CDKN1B CDC73 PRKAR1A
14 liver/biliary system MP:0005370 9.98 CDKN1B ALB CDC73 NR1I3 PTH1R PRKAR1A
15 renal/urinary system MP:0005367 9.96 GCM2 FGF23 CHGA CASR CDKN1B CDC73
16 neoplasm MP:0002006 9.92 GAST ALB CDKN1B CDC73 PTH1R PRKAR1A
17 reproductive system MP:0005389 9.85 FGF23 CHGA CDKN1B CDC73 PRKAR1A MEN1
18 respiratory system MP:0005388 9.56 CXADR FGF23 CDC73 CDKN1B PTH1R PRKAR1A
19 skeleton MP:0005390 9.32 GCM2 FGF23 CDC73 CASR CDKN1B PTH

Drugs & Therapeutics for Primary Hyperparathyroidism

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

(show top 50) (show all 61)
# 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 121268-17-5, 66376-36-1 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 6221 5280795
6 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
8 Ergocalciferols Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Calcimimetic Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Cinacalcet Hydrochloride Phase 4,Phase 3,Phase 2,Not Applicable
14 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
15 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
17 Calciferol Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Vitamin D2 Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
20
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
21
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
22
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
23
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
24 tannic acid Approved, Nutraceutical Phase 3
25 diuretics Phase 2, Phase 3
26 Diuretics, Potassium Sparing Phase 2, Phase 3
27 Epithelial Sodium Channel Blockers Phase 2, Phase 3
28 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
29 Mineralocorticoids Phase 2, Phase 3
30 Natriuretic Agents Phase 2, Phase 3
31 Sodium Channel Blockers 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 Fluorodeoxyglucose F18 Phase 2
37 Radiopharmaceuticals Phase 2
38 Antimetabolites Phase 2
39 Gastrointestinal Agents Phase 2,Not Applicable
40 Hypolipidemic Agents Phase 2
41 Lipid Regulating Agents Phase 2
42 Nootropic Agents Phase 2
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
44
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
45 Vitamin B Complex Phase 1
46 Folate Nutraceutical Phase 1
47 Vitamin B9 Nutraceutical Phase 1
48
Formaldehyde Approved, Vet_approved 50-00-0 712
49
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
50
Zinc Approved, Investigational Not Applicable 7440-66-6 23994

Interventional clinical trials:

(show top 50) (show all 67)
# 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 Phase 3 Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Recruiting NCT03280264 Phase 3 KHK7580
17 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Enrolling by invitation NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
18 Primary Hyperparathyroidism (PHPT): Early Effect of Vitamin D Withdrawn NCT01329666 Phase 2, Phase 3
19 Primary Hyperparathyroidism: Does a Systematic Treatment Improve the Calcium and Bone Metabolism After Surgery? Unknown status NCT00973336 Phase 2 Calcium and vitamin D
20 11C Methionine PET for the Detection of Hyperfunctional Parathyroid Tissues Unknown status NCT01783002 Phase 2
21 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
22 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
23 Interest of the F18-choline as a Second Line of the Tracer for Detection of Parathyroid Adenomas Completed NCT02432599 Phase 2
24 Intra-operative Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
25 Energy Specific Far Infrared Radiation Treatment for Hyperparathyroidism Unknown status NCT00573573 Phase 1
26 EC17 for Intraoperative Imaging for Parathyroidectomy Completed NCT01996072 Phase 1 EC17
27 Near Infrared Fluorescent Imaging in Thyroid and Parathyroid Surgery With the Fluobeam(TM) System of Fluoptics Completed NCT01598727 Phase 1
28 Effects of Vitamin D Replacement in Patients With Primary Hyperparathyroidism (PHPT) Active, not recruiting NCT00538720 Phase 1 Vitamin D
29 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
30 Differentially Expressed Proteins in Sporadic Parathyroid Tumors Unknown status NCT01647503
31 Input of C11-Choline PET/CT in Localization of Parathyroid Adenoma Unknown status NCT01221896
32 Effects of Parathyroidectomy on Cardiovascular Risk Factors in Primary Hyperparathyroidism Completed NCT01057732
33 Primary Hyperparathyroidism: Non-classical Manifestations Completed NCT00432939
34 OPG/Soluble RANKL (sRANKL) and Bone Mineral Density in Primary Hyperparathyroidism Completed NCT01889134 Not Applicable Sedron (alendronate)
35 Evaluation of Non Specific Symptoms and Quality of Life Before and After Surgery for Mild Primary Hyperparathyroidism Completed NCT01776502
36 Bone Architectural Parameters in Postmenopausal Women Affected With Primary Hyperparathyroidism Completed NCT02539498 Not Applicable
37 Radius Loading in Primary Hyperparathyroidism Completed NCT01571843 Not Applicable
38 Asymptomatic Primary Hyperparathyroidism: A Prospective, Randomized Trial Completed NCT00522028
39 Open Versus Video-Assisted Minimal-Invasive Parathyroid Surgery Completed NCT00877981 Not Applicable
40 PRIMARA: A Prospective Descriptive Observational Study to Review Mimpara (Cinacalcet) Use in Patients With Primary Hyperparathyroidism in Clinical Practice Completed NCT00928408 Cinacalcet
41 Oral Peptones Load in Normocalcemic and Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626 Not Applicable
42 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
43 The Midwest Head and Neck Cancer Consortium Multi-Institutional Parathyroid Registry Completed NCT01409798
44 Minimally Invasive Radioguided Parathyroidectomy Completed NCT01530919
45 A Randomized Study of Surgery vs No Surgery in Patients With Mild Asymptomatic Primary Hyperparathyroidism Completed NCT00004843 Not Applicable
46 Gene Expression in Hyperparathyroidism Completed NCT03044600
47 Observation of Histological Changes in Parathyroid Adenomas Following High Intensity Focused Ultrasound (HIFU) Treatment Procedure Completed NCT01060982 Not Applicable
48 Effect of Parathyroidectomy on Sleep Completed NCT00501215 Not Applicable
49 Optimal HCTZ Cessation for Diagnosis of Hyperparathyroidism Completed NCT02591160 Not Applicable
50 Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Completed NCT01369953

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, Endothelial, Liver, Pituitary

Publications for Primary Hyperparathyroidism

Articles related to Primary Hyperparathyroidism:

(show top 50) (show all 1147)
# Title Authors Year
1
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. ( 29108698 )
2018
2
Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. ( 29436275 )
2018
3
Selective parathyroid venous sampling in primary hyperparathyroidism: A systematic review and meta-analysis. ( 29756350 )
2018
4
Re: Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System. ( 29357552 )
2018
5
REDUCTION OF ARRHYTHMIAS IN PRIMARY HYPERPARATHYROIDISM, BY PARATHYROIDECTOMY, EVALUATED WITH 24 HOUR ECG MONITORING. ( 29875287 )
2018
6
Normocalcaemic primary hyperparathyroidism: a pragmatic approach. ( 29437827 )
2018
7
Long-Term Skeletal Outcomes of Primary Hyperparathyroidism Patients After Treatment with Parathyroidectomy: A Systematic Review and Meta-Analysis. ( 29381879 )
2018
8
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
9
Protective Effect of Denosumab on Bone in Older Women with Primary Hyperparathyroidism. ( 29364518 )
2018
10
Dual energy computed tomography should be the first line preoperative localization imaging test for primary hyperparathyroidism patients. ( 29370881 )
2018
11
Predictors of renal function and calcifications in primary hyperparathyroidism: A nested case-control study. ( 29955845 )
2018
12
Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )
2018
13
<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
14
Classic Primary Hyperparathyroidism Versus Normocalcemic and Normohormonal Variants: Do They Really Differ? ( 29392434 )
2018
15
Risk factors of developing the hungry bone syndrome after parathyroidectomy for primary hyperparathyroidism. ( 29928157 )
2018
16
Trabecular Bone Score in Obese and Non-obese Subjects with Primary Hyperparathyroidism Before and After Parathyroidectomy. ( 29373705 )
2018
17
Clinical value of 11C-methionine positron emission tomography in persistent primary hyperparathyroidism-A case report with a mediastinal parathyroid adenoma. ( 29573598 )
2018
18
Morbidity in parathyroid surgery for renal disease is under reported: a comparison of outcomes with primary hyperparathyroidism. ( 29962299 )
2018
19
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
20
Effect of parathyroidectomy on quality of life and non-specific symptoms in normocalcaemic primary hyperparathyroidism. ( 29405278 )
2018
21
Gitelman syndrome and primary hyperparathyroidism: a rare association. ( 29871958 )
2018
22
Rare Undiagnosed Primary Amyloidosis Unmasked During Surgical Treatment of Primary Hyperparathyroidism: A Case Report. ( 29359203 )
2018
23
Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. ( 29115694 )
2018
24
A rare cause of primary hyperparathyroidism: Parathyroid lipoadenoma. ( 29778311 )
2018
25
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
26
Influence of concurrent chronic kidney disease on intraoperative parathyroid hormone monitoring during parathyroidectomy for primary hyperparathyroidism. ( 29128188 )
2018
27
Prevalence and Risk of Vertebral Fractures in Primary Hyperparathyroidism: A Nested Case-Control Study. ( 29734476 )
2018
28
Osteolytic lesions (brown tumors) of primary hyperparathyroidism misdiagnosed as multifocal giant cell tumor of the distal ulna and radius: a case report. ( 29936913 )
2018
29
Preoperative localization modalities in primary hyperparathyroidism: Correlation with postoperative cure. ( 29699804 )
2018
30
Primary hyperparathyroidism diagnosed and treated surgically during pregnancy. ( 29429952 )
2018
31
Acute pancreatitis as the first manifestation in a young boy with primary hyperparathyroidism. ( 29704155 )
2018
32
Clinical usefulness of intraoperative parathyroid hormone monitoring for primary hyperparathyroidism. ( 29441335 )
2018
33
The characteristics of clinical changes in primary hyperparathyroidism in Chinese patients. ( 29721808 )
2018
34
Clinical profile of juvenile primary hyperparathyroidism: a prospective study. ( 28527123 )
2018
35
Biochemical and pathologic factors affecting technetium-99m-methoxyisobutylisonitrile imaging results in patients with primary hyperparathyroidism. ( 29404934 )
2018
36
Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism. ( 29408534 )
2018
37
Re: Sporadic Primary Hyperparathyroidism and Stone Disease: A Comprehensive Metabolic Evaluation before and after Parathyroidectomy. ( 29783582 )
2018
38
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
39
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
40
The prevalence of primary hyperparathyroidism in Korea: a population-based analysis from patient medical records. ( 29732354 )
2018
41
Primary hyperparathyroidism in prostate cancer: guilty or not guilty? ( 29846903 )
2018
42
Gyriform calcifications after ischemic stroke in a patient with primary hyperparathyroidism. ( 29909162 )
2018
43
Occult urolithiasis in asymptomatic primary hyperparathyroidism. ( 29400579 )
2018
44
Water Clear Cell Adenoma of the Parathyroid Gland: A Forgotten Cause of Primary Hyperparathyroidism. ( 28382826 )
2017
45
Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1: Reply. ( 27847968 )
2017
46
Maximum cosmesis for patients with primary hyperparathyroidism: a case for larger incisions. ( 29423140 )
2017
47
Surgery Significantly Improves Neurocognition, Sleep, and Blood Pressure in Primary Hyperparathyroidism: A 3-Year Prospective Follow-Up Study. ( 28922677 )
2017
48
Gender difference in the clinical presentation of primary hyperparathyroidism: Influence of menopausal status. ( 28938410 )
2017
49
Anesthetic management of primary hyperparathyroidism during pregnancy: A case report. ( 29390544 )
2017
50
Nontraumatic Multiple Vertebral Compression Fractures Induced by Primary Hyperparathyroidism: A Case Report and Literature Review. ( 28882718 )
2017

Variations for Primary Hyperparathyroidism

ClinVar genetic disease variations for Primary Hyperparathyroidism:

6
(show all 12)
# 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.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh38 Chromosome 11, 64809958: 64809958
4 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh37 Chromosome 11, 64577430: 64577430
5 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh37 Chromosome 12, 12870694: 12870694
6 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh38 Chromosome 12, 12717760: 12717760
7 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh37 Chromosome 12, 12870745: 12870748
8 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh38 Chromosome 12, 12717811: 12717814
9 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh38 Chromosome 12, 12718236: 12718236
10 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh37 Chromosome 12, 12871170: 12871170
11 MEN1 NM_000244.3(MEN1): c.371_372delTC (p.Val124Aspfs) deletion Pathogenic GRCh38 Chromosome 11, 64809738: 64809739
12 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 region GO:0005576 9.65 ALB BGLAP CALCA CHGA CXADR FGF23
2 endoplasmic reticulum lumen GO:0005788 9.46 ALB BGLAP FGF23 MEN1
3 extracellular space GO:0005615 9.28 ALB BGLAP CALCA CHGA FGF23 GAST

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 9.97 CALCA CDKN1B MEN1 NR1I3 VDR
2 regulation of signaling receptor activity GO:0010469 9.92 CALCA FGF23 GAST PTH PTHLH
3 response to drug GO:0042493 9.91 BGLAP CDKN1B PTH RET
4 cellular protein metabolic process GO:0044267 9.85 ALB CALCA FGF23 MEN1
5 negative regulation of cell proliferation GO:0008285 9.85 CDC73 CDKN1B MEN1 PTH1R PTHLH VDR
6 ossification GO:0001503 9.74 BGLAP CASR PTH1R
7 negative regulation of epithelial cell proliferation GO:0050680 9.67 CDC73 CDKN1B MEN1
8 skeletal system development GO:0001501 9.65 BGLAP PTH PTH1R PTHLH VDR
9 bone mineralization GO:0030282 9.63 BGLAP PTH1R PTHLH
10 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.62 CALCA PTH PTH1R PTHLH
11 negative regulation of chondrocyte differentiation GO:0032331 9.61 PTH PTHLH
12 positive regulation of ossification GO:0045778 9.6 CALCA PTH
13 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.59 PTH PTHLH
14 vitamin D metabolic process GO:0042359 9.58 FGF23 VDR
15 positive regulation of cAMP metabolic process GO:0030816 9.56 CALCA CHGA
16 cellular phosphate ion homeostasis GO:0030643 9.54 FGF23 GCM2
17 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.51 PTH PTH1R
18 response to fibroblast growth factor GO:0071774 9.48 CASR PTH
19 cAMP metabolic process GO:0046058 9.43 PTH PTHLH
20 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.4 FGF23 VDR
21 cellular response to vitamin D GO:0071305 9.33 BGLAP CASR FGF23
22 osteoblast development GO:0002076 9.26 BGLAP MEN1 PTH1R PTHLH
23 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 9.16 PTH PTHLH
2 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.13 CDC73 NR1I3 VDR
3 hormone activity GO:0005179 8.92 CALCA GAST PTH PTHLH

Sources for Primary Hyperparathyroidism

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