MCID: PRM005
MIFTS: 59

Primary Hyperparathyroidism

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Primary Hyperparathyroidism

MalaCards integrated aliases for Primary Hyperparathyroidism:

Name: Primary Hyperparathyroidism 12 73 20 36 29 6 15 17 32
Familial Primary Hyperparathyroidism 12 58 29
Hyperparathyroidism, Primary 20 44 70
Hypocalciuric Hypercalcemia, Familial, Type 1 70
Familial Benign Hypercalcemia 70
Familial Hyperparathyroidism 70
Hyperparathyroidism Primary 54

Characteristics:

Orphanet epidemiological data:

58
familial primary hyperparathyroidism
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:11202
KEGG 36 H00246
ICD9CM 34 252.01
MeSH 44 D049950
NCIt 50 C48280
SNOMED-CT 67 190452007 54920000
ICD10 32 E21.0
ICD10 via Orphanet 33 E21.0
Orphanet 58 ORPHA2207
UMLS 70 C0221002 C0271846 C0342637 more

Summaries for Primary Hyperparathyroidism

GARD : 20 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 familial primary hyperparathyroidism, 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 Cinacalcet and Strontium ranelate 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

Disease Ontology : 12 A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.

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 : 73 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 2 with jaw tumors 33.0 RET MEN1 CDC73 CASR
2 hyperparathyroidism 1 33.0 MEN1 GCM2 CDC73
3 hyperparathyroidism, neonatal severe 32.9 PRKAR1A NR1I3 CASR
4 parathyroid carcinoma 32.5 RET PTH MEN1 CDC73 CASR CALCA
5 adenoma 32.2 RET PTH PRKAR1A MEN1 CHGA CDC73
6 nephrolithiasis 31.9 VDR PTH MEN1 FGF23 CASR BGLAP
7 multiple endocrine neoplasia, type i 31.9 RET PTH PRKAR1A MEN1 GAST CHGA
8 goiter 31.8 RET CALCA BGLAP
9 osteitis fibrosa 31.6 PTH FGF23 CDC73 CASR CALCA BGLAP
10 hyperthyroidism 31.5 PTH CALCA BGLAP ALPP
11 hyperparathyroidism 31.4 VDR RET PTHLH PTH PRKAR1A NR1I3
12 parathyroid adenoma 31.4 VDR RET PTHLH PTH PRKAR1A MEN1
13 multiple endocrine neoplasia 31.4 RET PTH PRKAR1A MEN1 GAST CHGA
14 thyroid gland disease 31.4 RET PTH CALCA
15 rickets 31.3 VDR PTH FGF23 CYP27B1 CASR BGLAP
16 bone resorption disease 31.3 VDR PTHLH PTH1R PTH FGF23 CALCA
17 mammary paget's disease 31.3 PTH CALCA BGLAP
18 bone disease 31.2 VDR PTHLH PTH1R PTH NR1I3 FGF23
19 constipation 31.2 RET PTH GAST CHGA CALCA
20 hypocalciuric hypercalcemia, familial, type i 31.1 PTH CDC73 CASR
21 chief cell adenoma 31.1 PTH GCM2
22 uremia 31.1 VDR PTH MEN1 CASR
23 familial hypocalciuric hypercalcemia 31.0 VDR RET PTHLH PTH MEN1 GCM2
24 papillary carcinoma 31.0 RET CHGA CALCA
25 hypercalcemia, infantile, 1 31.0 VDR PTHLH PTH1R PTH CASR CALCA
26 zollinger-ellison syndrome 31.0 MEN1 GAST CHGA
27 thyroid gland medullary carcinoma 31.0 RET PTH MEN1 GAST CHGA CALCA
28 fibrous dysplasia 30.9 FGF23 CDC73 CALCA BGLAP
29 thyroid carcinoma, familial medullary 30.9 RET PRKAR1A MEN1 GAST CHGA CALCA
30 hypophosphatemia 30.9 VDR PTHLH PTH1R PTH FGF23 CYP27B1
31 clear cell adenoma 30.9 PTH MEN1 CDC73
32 secondary hyperparathyroidism 30.9 VDR PTH1R PTH NR1I3 MEN1 FGF23
33 idiopathic hypercalciuria 30.8 VDR PRKAR1A NR1I3 CASR BGLAP
34 calciphylaxis 30.8 VDR PTH FGF23 CASR
35 multiple endocrine neoplasia, type iia 30.8 RET PTH MEN1 CHGA CDKN1B CDC73
36 benign giant cell tumor 30.8 FGF23 CALCA BGLAP
37 kidney disease 30.7 VDR RET PTH FGF23 CYP27B1 CASR
38 pituitary adenoma 30.7 PRKAR1A MEN1 CHGA CDKN1B
39 end stage renal disease 30.7 VDR PTH FGF23 CASR
40 differentiated thyroid carcinoma 30.7 VDR RET BGLAP
41 hypoparathyroidism 30.7 VDR RET PTHLH PTH1R PTH PRKAR1A
42 endemic goiter 30.7 PTH CALCA
43 paget's disease of bone 30.7 VDR PTHLH PTH CASR CALCA BGLAP
44 thyroid tumor 30.6 RET PRKAR1A
45 renal osteodystrophy 30.6 VDR PTH FGF23 CASR CALCA BGLAP
46 parathyroid transitional clear cell adenoma 30.6 PTH MEN1
47 osteomalacia 30.6 VDR PTHLH PTH FGF23 CYP27B1 CASR
48 oncogenic osteomalacia 30.6 PTHLH PTH FGF23
49 paraganglioma 30.6 RET MEN1 CHGA CALCA
50 follicular adenoma 30.5 RET PTHLH MEN1 CDKN1B CALCA

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 9.62 MEN1
2 Decreased viability GR00221-A-1 9.62 CDKN1B NR1I3 PRKAR1A RET
3 Decreased viability GR00221-A-2 9.62 NR1I3 PRKAR1A RET
4 Decreased viability GR00221-A-3 9.62 PRKAR1A
5 Decreased viability GR00221-A-4 9.62 PRKAR1A RET
6 Decreased viability GR00249-S 9.62 NR1I3
7 Decreased viability GR00301-A 9.62 NR1I3 RET
8 Decreased viability GR00381-A-1 9.62 CALCA
9 Decreased viability GR00386-A-1 9.62 NR1I3 PTH1R VDR
10 Decreased viability GR00402-S-2 9.62 PTH1R RET

MGI Mouse Phenotypes related to Primary Hyperparathyroidism:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.41 BGLAP CASR CDC73 CDKN1B CHGA CYP27B1
2 homeostasis/metabolism MP:0005376 10.39 BGLAP CASR CDC73 CDKN1B CHGA CYP27B1
3 cellular MP:0005384 10.36 BGLAP CASR CDC73 CDKN1B CYP27B1 GCM2
4 growth/size/body region MP:0005378 10.34 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
5 cardiovascular system MP:0005385 10.3 CDC73 CDKN1B CHGA FGF23 MEN1 PRKAR1A
6 craniofacial MP:0005382 10.28 CASR CDC73 CDKN1B CYP27B1 GCM2 MEN1
7 immune system MP:0005387 10.28 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
8 digestive/alimentary MP:0005381 10.26 CASR CDC73 CDKN1B FGF23 GAST MEN1
9 hematopoietic system MP:0005397 10.26 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
10 mortality/aging MP:0010768 10.24 CASR CDC73 CDKN1B CHGA FGF23 GAST
11 limbs/digits/tail MP:0005371 9.95 CYP27B1 FGF23 PTH PTH1R PTHLH RET
12 muscle MP:0005369 9.92 CASR CDC73 CDKN1B CHGA MEN1 PRKAR1A
13 neoplasm MP:0002006 9.86 CDC73 CDKN1B GAST MEN1 PRKAR1A PTH1R
14 renal/urinary system MP:0005367 9.85 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
15 reproductive system MP:0005389 9.73 BGLAP CDC73 CDKN1B CHGA CYP27B1 FGF23
16 skeleton MP:0005390 9.4 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23

Drugs & Therapeutics for Primary Hyperparathyroidism

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinacalcet Approved Phase 4 226256-56-0 156419
2 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
3
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
4
Denosumab Approved Phase 4 615258-40-7
5
Zoledronic Acid Approved Phase 4 118072-93-8 68740
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
8
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
10 Hormone Antagonists Phase 4
11 Calcium, Dietary Phase 4
12 Nutrients Phase 4
13 Trace Elements Phase 4
14 Micronutrients Phase 4
15 Vitamins Phase 4
16 Calciferol Phase 4
17 Vitamin D2 Phase 4
18 Ergocalciferols Phase 4
19 Vasodilator Agents Phase 4
20 Katacalcin Phase 4
21 calcitonin Phase 4
22
Calcium Nutraceutical Phase 4 7440-70-2 271
23
tannic acid Approved Phase 3 1401-55-4
24
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
25
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
26
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872 150310
27
Choline Approved, Nutraceutical Phase 3 62-49-7 305
28 Gastrointestinal Agents Phase 3
29 Sodium Channel Blockers Phase 2, Phase 3
30 Mineralocorticoids Phase 2, Phase 3
31 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
32 Antihypertensive Agents Phase 2, Phase 3
33 diuretics Phase 2, Phase 3
34 Diuretics, Potassium Sparing Phase 2, Phase 3
35 Antimetabolites Phase 3
36 Lipid Regulating Agents Phase 3
37 Nootropic Agents Phase 3
38 Hypolipidemic Agents Phase 3
39 Technetium Tc 99m Sestamibi Phase 3
40
Methylene blue Approved, Investigational Phase 1, Phase 2 61-73-4
41
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
42 Radiopharmaceuticals Phase 2
43 Fluorodeoxyglucose F18 Phase 2
44 Carbon-11 methionine Phase 2
45
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
47 Vitamin B9 Phase 1
48 Folate Phase 1
49 Vitamin B Complex Phase 1
50
Calcium carbonate Approved, Investigational 471-34-1

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
2 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
3 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
4 Randomized Controlled Trial of Vitamin D Repletion Regimens in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
5 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
6 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
7 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
8 Management of Osteoporosis in Patients With Primary Hyperparathyroidism Enrolling by invitation NCT04085419 Phase 4 Denosumab 60 MG/ML Prefilled Syringe [Prolia];Zoledronic Acid
9 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
10 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
11 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
12 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Completed NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
13 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
14 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
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 Comparison of Two Methods of Parathyroidectomy for Primary Hyperparathyroidism Completed NCT00006329 Phase 2, Phase 3
17 Evaluating Alternative Medical Therapies in Primary Hyperparathyroidism Recruiting NCT02525796 Phase 2, Phase 3 eplerenone;amiloride;Placebo;Cinacalcet
18 18F-Fluorocholine for the Detection of Parathyroid Adenomas Recruiting NCT03764007 Phase 2, Phase 3 Fluorocholine PET
19 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 Recruiting NCT04040946 Phase 3
20 Early Effect of Vitamin D in Primary Hyperparathyroidism Withdrawn NCT01329666 Phase 2, Phase 3
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 A Pilot & Feasibility Study of the Imaging Potential of EC17 in Subjects Undergoing Parathyroidectomy for Primary Hyperparathyroidism. Completed NCT01996072 Phase 1 EC17
29 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
30 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
31 Comparison of Cervical Ultrasound and Echoscintigraphy for Preoperative Localization Diagnosis in Primary Hyperparathyroidism Unknown status NCT03605472
32 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
33 Alterations in Muscle's Functional Characteristics After Parathyroid Surgery for Primary Hyperparathyroidism. Unknown status NCT03091140
34 Feasibility of Parathyroidectomy With Exploration of 4 Parathyroid Glands in Outpatients, for Treatment of Primary Hyperparathyroidism Unknown status NCT03732157
35 Preliminary Study Concerning the Validity of Parathyroid Exploration on a Discovery NM 530c CZT Camera Unknown status NCT02854345
36 Transcriptional and Translational Regulation of Vitamin D Receptor (VDR) and Calcium Sensing Receptor (CaSR) in Patients With Sporadic Primary Hyperparathyroidism Unknown status NCT01228786
37 Vitamin D Supplementation After Successful Parathyroid Surgery for Primary Hyperparathyroidism Completed NCT00982722 cholecalciferol and calcium carbonate;calcium carbonate
38 Osteoprotegerin/sRANKL Ratio and Bone Mineral Density in Patients With Primary Hyperparathyroidism Treated With Parathyroidectomy or Alendronate Completed NCT01889134 Sedron (alendronate)
39 Dissimilar PTH, Gastrin, and Ionized Calcium Response to Oral Peptones in Normocalcemic Primary Hyperparathyroidism, Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626
40 PRIMARA: A Prospective Descriptive Observational Study to Review Mimpara (Cinacalcet) Use in Patients With Primary Hyperparathyroidism in Clinical Practice Completed NCT00928408 Cinacalcet
41 Primary Hyperparathyroidism: Non-classical Manifestations Completed NCT00432939
42 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
43 Surgical Approach and Outcomes in Patients With Primary Hyperparathyroidism and Unclear Preoperative Localisation Studies Completed NCT04740502
44 Characterization of Bone Architectural Parameters Assessed by High-Resolution Peripheral Quantitative Computed Tomography in Post-menopausal Women Affected With Primary Hyperparathyroidism Completed NCT02539498
45 Cardiovascular Health in Patients With Primary Hyperparathyroidism: Effect of Parathyroidectomy on Cardiovascular Health: A Randomized Controlled Trial Completed NCT02989428
46 The Effect of Parathyroidectomy on Cardiovascular Risk Factors in Patients With Primary Hyperparathyroidism Completed NCT01057732
47 Minimally Invasive Radioguided Parathyroidectomy Completed NCT01530919
48 A Retrospective Analysis of the Diagnostic Performance of 11C-choline PET/CT for Detection of Hyperfunctioning Parathyroid Glands After Prior Negative or Discordant Imaging in Primary Hyperparathyroidism Completed NCT04608253
49 Open Compared to Video-Assisted Minimal-Invasive Parathyroid Surgery in Primary Hyperparathyroidism Completed NCT00877981
50 The Midwest Head and Neck Cancer Consortium Multi-Institutional Parathyroid Registry Completed NCT01409798

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
2 Familial Primary Hyperparathyroidism 29

Anatomical Context for Primary Hyperparathyroidism

MalaCards organs/tissues related to Primary Hyperparathyroidism:

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

Publications for Primary Hyperparathyroidism

Articles related to Primary Hyperparathyroidism:

(show top 50) (show all 10131)
# Title Authors PMID Year
1
PTH mutation with primary hyperparathyroidism and undetectable intact PTH. 6 61
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. 61 54
20164288 2010
5
Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia? 61 54
20389108 2010
6
CT-MIBI-SPECT image fusion predicts multiglandular disease in hyperparathyroidism. 61 54
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. 61 54
19567535 2009
9
Calcium-sensing receptor autoantibodies in primary hyperparathyroidism. 61 54
19520070 2009
10
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 61 54
19474519 2009
11
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. 61 54
18751724 2009
12
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. 61 54
19423460 2009
13
The role of menin in parathyroid tumorigenesis. 54 61
20175455 2009
14
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
15
Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. 61 54
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
The calcium sensing receptor: from understanding parathyroid calcium homeostasis to bone metastases. 61 54
18492387 2008
19
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. 54 61
18338208 2008
20
Impact of 25-hydroxyvitamin D deficiency on perioperative parathyroid hormone kinetics and results in patients with primary hyperparathyroidism. 61 54
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. 61 54
17853337 2007
24
Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation. 61 54
17639062 2007
25
Inheritance, mode of inheritance, and candidate genes for primary hyperparathyroidism in Keeshonden. 61 54
17338170 2007
26
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. 61 54
17018660 2007
27
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. 54 61
17065424 2006
28
R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism. 61 54
17062884 2006
29
Primary hyperparathyroidism with a low-normal, atypical serum parathyroid hormone as shown by discordant immunoassay curves. 61 54
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
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. 61 54
16816924 2006
34
Current pharmacological options for the management of primary hyperparathyroidism. 54 61
17137403 2006
35
Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. 61 54
16381997 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. 61 54
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. 61 54
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
Fibroblast growth factor 23, parathyroid hormone, and 1alpha,25-dihydroxyvitamin D in surgically treated primary hyperparathyroidism. 54 61
15595334 2004
44
GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism. 54 61
15657585 2004
45
Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. 61 54
15754732 2004
46
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 61 54
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. 61 54
15168774 2004
50
Expression of GCMB by intrathymic parathyroid hormone-secreting adenomas indicates their parathyroid cell origin. 61 54
14715818 2004

Variations for Primary Hyperparathyroidism

ClinVar genetic disease variations for Primary Hyperparathyroidism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEN1 NM_000244.3(MEN1):c.152del (p.Asn51fs) Deletion Pathogenic 217128 rs869312167 GRCh37: 11:64577430-64577430
GRCh38: 11:64809958-64809958
2 PTH NM_000315.4(PTH):c.247C>T (p.Arg83Ter) SNV Pathogenic 13759 rs6256 GRCh37: 11:13514053-13514053
GRCh38: 11:13492506-13492506
3 MEN1 NM_000244.3(MEN1):c.371_372del (p.Val124fs) Deletion Pathogenic 523339 rs1555166368 GRCh37: 11:64577210-64577211
GRCh38: 11:64809738-64809739
4 GPR19 , CDKN1B NM_004064.4(CDKN1B):c.-80C>T SNV Pathogenic 217125 rs551236750 GRCh37: 12:12870694-12870694
GRCh38: 12:12717760-12717760
5 CDKN1B NM_004064.4(CDKN1B):c.-29_-26delAGAG Microsatellite Pathogenic 217126 rs774454456 GRCh37: 12:12870742-12870745
GRCh38: 12:12717808-12717811
6 CDKN1B NM_004064.4(CDKN1B):c.397C>A (p.Pro133Thr) SNV Uncertain significance 217127 rs137985549 GRCh37: 12:12871170-12871170
GRCh38: 12:12718236-12718236
7 MEN1 NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) SNV Uncertain significance 41852 rs2959656 GRCh37: 11:64572018-64572018
GRCh38: 11:64804546-64804546

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 RET PTHLH PTH1R PTH PRKAR1A MEN1
2
Show member pathways
12.18 PTHLH PTH1R PTH CALCA
3 11.87 PTHLH PTH1R PTH CALCA
4 11.65 PTH BGLAP ALPP
5 11.45 PTHLH PTH1R PTH
6 11.33 VDR PTH1R PTH
7 11.3 VDR PTHLH PTH1R PTH GCM2 FGF23
8 11.29 VDR PTH1R PTH CYP27B1 CALCA BGLAP
9 11.09 VDR NR1I3 CYP27B1
10 11.02 VDR PTHLH PTH1R PTH PRKAR1A BGLAP
11 10.75 VDR NR1I3
12 10.7 PTH1R PTH FGF23 BGLAP
13 10.5 VDR PTH CYP27B1

GO Terms for Primary Hyperparathyroidism

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.12 PTHLH PTH1R PTH GPR19 GAST CASR
2 negative regulation of transcription, DNA-templated GO:0045892 10.02 VDR NR1I3 MEN1 CDKN1B CALCA
3 positive regulation of cell proliferation GO:0008284 10 PTHLH PTH1R FGF23 CDKN1B CASR
4 response to drug GO:0042493 9.91 RET PTH CDKN1B BGLAP
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.81 PTHLH PTH1R PTH CALCA
6 negative regulation of cell proliferation GO:0008285 9.8 VDR PTHLH PTH1R MEN1 CYP27B1 CDKN1B
7 ossification GO:0001503 9.79 PTH1R CASR BGLAP
8 skeletal system development GO:0001501 9.77 VDR PTHLH PTH1R PTH BGLAP
9 negative regulation of epithelial cell proliferation GO:0050680 9.74 MEN1 CDKN1B CDC73
10 decidualization GO:0046697 9.67 VDR MEN1 CYP27B1
11 regulation of bone mineralization GO:0030500 9.65 FGF23 CYP27B1 BGLAP
12 response to vitamin D GO:0033280 9.63 PTH CYP27B1 BGLAP
13 bone mineralization GO:0030282 9.62 PTHLH PTH1R CYP27B1 BGLAP
14 cellular response to vitamin D GO:0071305 9.61 FGF23 CASR BGLAP
15 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.59 PTH1R PTH
16 cellular phosphate ion homeostasis GO:0030643 9.58 GCM2 FGF23
17 vitamin D metabolic process GO:0042359 9.58 VDR FGF23 CYP27B1
18 response to fibroblast growth factor GO:0071774 9.56 PTH CASR
19 phosphate ion homeostasis GO:0055062 9.55 PTH FGF23
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 9.33 VDR FGF23 CYP27B1
23 osteoblast development GO:0002076 9.26 PTHLH PTH1R MEN1 BGLAP
24 cellular calcium ion homeostasis GO:0006874 9.1 VDR PTH1R PTH GCM2 CASR CALCA

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 PTHLH PTH
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....