MCID: HYP069
MIFTS: 63

Hyperparathyroidism

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hyperparathyroidism

MalaCards integrated aliases for Hyperparathyroidism:

Name: Hyperparathyroidism 11 75 28 53 5 43 14 38 16 71 33
Hyperparathyroidism and Other Disorders of Parathyroid Gland 33
Parathyroid Glandular Hyperfunction 33
Parathyroid Gland Hyperfunction 33
Hpth - [hyperparathyroidism] 33
Parathyroid Hyperfunction 33

Classifications:



External Ids:

Disease Ontology 11 DOID:13543
ICD9CM 34 252.0
MeSH 43 D006961
NCIt 49 C48259
SNOMED-CT 68 190451000
ICD10 31 E21.3
UMLS 71 C0020502

Summaries for Hyperparathyroidism

Disease Ontology: 11 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.

MalaCards based summary: Hyperparathyroidism, also known as hyperparathyroidism and other disorders of parathyroid gland, is related to hyperparathyroidism 1 and hyperparathyroidism 2 with jaw tumors. An important gene associated with Hyperparathyroidism is HRPT3 (Hyperparathyroidism 3), and among its related pathways/superpathways are Signal Transduction and G alpha (s) signalling events. The drugs Calcium acetate and Sevelamer have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Wikipedia: 75 Hyperparathyroidism is an increase in parathyroid hormone (PTH) levels in the blood. This occurs from a... more...

Related Diseases for Hyperparathyroidism

Diseases in the Hyperparathyroidism family:

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

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

(show top 50) (show all 1120)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 33.4 MEN1 GCM2 CDC73
2 hyperparathyroidism 2 with jaw tumors 33.3 RET MEN1 CDC73 CASR
3 hyperparathyroidism, neonatal severe 33.0 TRPV6 PRKAR1A CASR
4 multiple endocrine neoplasia, type iia 32.2 RET PTH MEN1 CDKN1B CDC73 CALCA
5 osteitis fibrosa 32.2 PTH FGF23 CDC73 CASR CALCA BGLAP
6 parathyroid carcinoma 32.1 RET PTH MEN1 GCM2 CDC73 CASR
7 secondary hyperparathyroidism 31.9 VDR PTH PRKAR1A MEN1 FGF23 EPO
8 nephrolithiasis 31.8 VDR PTH FGF23 CASR
9 adenoma 31.8 RET PTH PRKAR1A MEN1 CDKN1B CDC73
10 multiple endocrine neoplasia 31.8 RET PTH PRKAR1A MEN1 GAST CDKN1B
11 vitamin d hydroxylation-deficient rickets, type 1b 31.7 VDR PTH FGF23 CYP27B1
12 multiple endocrine neoplasia, type iv 31.7 RET PRKAR1A MEN1 CDKN1B CDC73
13 pseudohypoparathyroidism, type ib 31.7 PTHLH PTH PRKAR1A BGLAP
14 multiple endocrine neoplasia, type i 31.5 RET PTH PRKAR1A MEN1 GCM2 GAST
15 primary hyperparathyroidism 31.5 VDR RET PTHLH PTH PRKAR1A MEN1
16 goiter 31.5 RET CALCA BGLAP
17 rickets 31.5 VDR PTH PHEX FGF23 CYP27B1 CASR
18 parathyroid adenoma 31.3 VDR RET PTHLH PTH PRKAR1A MEN1
19 vitamin d-dependent rickets 31.3 VDR PTH PHEX FGF23 CYP27B1
20 vitamin d hydroxylation-deficient rickets, type 1a 31.3 VDR PTH PHEX FGF23 CYP27B1
21 uremia 31.2 VDR PTH FGF23 EPO CASR
22 hyperthyroidism 31.2 PTH CALCA BGLAP ACP5
23 chronic kidney disease 31.2 VDR PTH FGF23 EPO CYP27B1 CASR
24 vitamin d-dependent rickets, type 2a 31.1 VDR TRPV6 PTH PHEX FGF23 CYP27B1
25 renal osteodystrophy 31.0 VDR PTH FGF23 CASR CALCA BGLAP
26 nodular goiter 31.0 RET PTH CALCA
27 kidney disease 31.0 VDR PTH FGF23 EPO CYP27B1 CASR
28 hypercalcemia, infantile, 1 31.0 VDR PTHLH PTH CASR CALCA
29 multinodular goiter 31.0 RET PTH CALCA
30 calciphylaxis 31.0 VDR PTH FGF23 EPO CASR
31 hyperphosphatemia 31.0 VDR PTH PHEX GCM2 FGF23 CASR
32 mammary paget's disease 30.9 PTH CALCA BGLAP ACP5
33 ossifying fibroma 30.9 PTH MEN1 FGF23 CDC73
34 hypoparathyroidism 30.9 VDR RET PTHLH PTH PRKAR1A GCM2
35 papillary carcinoma 30.9 RET CDKN1B CALCA
36 hypocalciuric hypercalcemia, familial, type i 30.9 PTH MEN1 CDKN1B CDC73 CASR
37 chief cell adenoma 30.8 PTH GCM2
38 familial hypocalciuric hypercalcemia 30.8 RET PTHLH PTH MEN1 GCM2 CDKN1B
39 calcinosis 30.8 PHEX FGF23 CALCA
40 nontoxic goiter 30.8 PTH CALCA BGLAP
41 lipoadenoma 30.8 PTH CDC73
42 carcinoid tumors, intestinal 30.8 MEN1 GAST
43 conn's syndrome 30.8 RET PTH PRKAR1A MEN1 CASR CALCA
44 inherited cancer-predisposing syndrome 30.8 RET PRKAR1A MEN1 CDKN1B CDC73
45 bap1 tumor predisposition syndrome 30.8 RET PRKAR1A MEN1 CDKN1B CDC73
46 thyroid carcinoma, familial medullary 30.7 RET PRKAR1A MEN1 GAST CALCA
47 thyroid gland medullary carcinoma 30.7 RET PTH MEN1 GAST CALCA
48 paget's disease of bone 30.6 PTH CALCA BGLAP ACP5
49 hypophosphatemia 30.6 VDR PTHLH PTH PHEX FGF23 CYP27B1
50 pseudohypoparathyroidism 30.6 PTHLH PTH PRKAR1A CALCA BGLAP

Comorbidity relations with Hyperparathyroidism via Phenotypic Disease Network (PDN):


Acute Cystitis Chronic Kidney Disease
Deficiency Anemia Hypertension, Essential
Hypoparathyroidism Hypothyroidism
Nephrolithiasis, X-Linked Recessive, with Renal Failure Osteoporosis
Parathyroid Carcinoma

Graphical network of the top 20 diseases related to Hyperparathyroidism:



Diseases related to Hyperparathyroidism

Symptoms & Phenotypes for Hyperparathyroidism

MGI Mouse Phenotypes related to Hyperparathyroidism:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 BGLAP CALCA CASR CDC73 CDKN1B CYP27B1
2 endocrine/exocrine gland MP:0005379 10.39 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
3 renal/urinary system MP:0005367 10.35 CALCA CASR CDC73 CDKN1B CYP27B1 FGF23
4 growth/size/body region MP:0005378 10.34 CASR CDC73 CDKN1B CYP27B1 FGF23 MEN1
5 cellular MP:0005384 10.33 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
6 immune system MP:0005387 10.31 ACP5 BGLAP CASR CDC73 CDKN1B CYP27B1
7 digestive/alimentary MP:0005381 10.24 CASR CDC73 CDKN1B FGF23 GAST MEN1
8 limbs/digits/tail MP:0005371 10.21 ACP5 CYP27B1 FGF23 PHEX PRKAR1A PTH
9 cardiovascular system MP:0005385 10.21 CALCA CDC73 CDKN1B EPO FGF23 MEN1
10 neoplasm MP:0002006 10.19 CALCA CDC73 CDKN1B GAST MEN1 PRKAR1A
11 craniofacial MP:0005382 10.18 CDC73 CDKN1B CYP27B1 GCM2 MEN1 PHEX
12 muscle MP:0005369 10.17 CASR CDC73 CDKN1B EPO MEN1 PRKAR1A
13 skeleton MP:0005390 10.13 ACP5 BGLAP CALCA CASR CDC73 CDKN1B
14 reproductive system MP:0005389 10.1 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
15 adipose tissue MP:0005375 10.09 BGLAP CDC73 CDKN1B CYP27B1 PHEX PRKAR1A
16 respiratory system MP:0005388 10.02 CALCA CDC73 CDKN1B EPO FGF23 MEN1
17 hematopoietic system MP:0005397 10 ACP5 BGLAP CASR CDC73 CDKN1B CYP27B1
18 mortality/aging MP:0010768 9.83 CALCA CASR CDC73 CDKN1B EPO FGF23
19 integument MP:0010771 9.28 CALCA CASR CDC73 CDKN1B CYP27B1 FGF23

Drugs & Therapeutics for Hyperparathyroidism

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

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium acetate Approved, Investigational Phase 4 62-54-4
2
Sevelamer Approved Phase 4 52757-95-6 3085017
3
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
6
Atorvastatin Approved Phase 4 134523-00-5 60823
7 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
8
Zoledronic acid Approved Phase 4 118072-93-8 68740
9
Cinacalcet Approved Phase 4 226256-56-0 156419
10
Denosumab Approved Phase 4 615258-40-7
11
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
12
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
13 Vasodilator Agents Phase 4
14 Antimetabolites Phase 4
15 Hypolipidemic Agents Phase 4
16 Lipid Regulating Agents Phase 4
17 Hydroxycholecalciferols Phase 4
18 Chelating Agents Phase 4
19 Liver Extracts Phase 4
20 Anticholesteremic Agents Phase 4
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
22
Epoetin Alfa Phase 4
23 Hematinics Phase 4
24 Chrysarobin Phase 4
25 Vasoconstrictor Agents Phase 4
26 1 alpha-hydroxyergocalciferol Phase 4
27 Dihydroxycholecalciferols Phase 4
28
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850 155817470
29
Calcium carbonate Approved, Investigational Phase 3 471-34-1
30
Amiloride Approved Phase 2, Phase 3 17440-83-4, 2016-88-8, 2609-46-3 16231
31
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872
32
Choline Approved, Nutraceutical Phase 3 62-49-7 305
33
Maxacalcitol Investigational Phase 3 103909-75-7 6398761
34 Dermatologic Agents Phase 3
35 Protective Agents Phase 3
36 Antihypertensive Agents Phase 2, Phase 3
37 diuretics Phase 2, Phase 3
38 Sodium Channel Blockers Phase 2, Phase 3
39 Diuretics, Potassium Sparing Phase 2, Phase 3
40 Mineralocorticoids Phase 2, Phase 3
41 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
42 Pharmaceutical Solutions Phase 3
43 Nootropic Agents Phase 3
44 Gastrointestinal Agents Phase 3
45 Technetium Tc 99m Sestamibi Phase 3
46 Phytosterol Phase 3
47
Methylene blue Approved, Investigational Phase 1, Phase 2 61-73-4 6099
48
Racemethionine Approved, Experimental, Investigational, Nutraceutical Phase 2 59-51-8, 63-68-3, 348-67-4 6137
49 Carbon-11 methionine Phase 2
50 Fluorodeoxyglucose F18 Phase 2

Interventional clinical trials:

(show top 50) (show all 306)
# Name Status NCT ID Phase Drugs
1 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
2 An Open-label Study of Combination of Cinacalcet and Active Vitamin D Analogue in the Management of Severe Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4 Combination Cinacalcet with Vitamin D analogue
3 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Unknown status NCT03935984 Phase 4 Calcitonin
4 A Randomized Study to Evaluate the Effects of Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease (CKD) Receiving Hemodialysis Completed NCT00379899 Phase 4 cinacalcet
5 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Renal Transplantation. Completed NCT01939977 Phase 4 Paricalcitol;Calcifediol
6 Randomized Trial to Evaluate the Efficacy and Safety of Cinacalcet Treatment in Combination With Low Dose Vitamin D for the Treatment of Subjects With Secondary Hyperparathyroidism (SHPT) Recently Initiating Hemodialysis Completed NCT00803712 Phase 4 Cinacalcet;Vitamin D
7 A Phase 4, Multi-Center, Open-Label, Randomized Study to Determine Clinically Appropriate Doses of Hectorol® Capsules When Converting From Hectorol® Injection for the Treatment of SHPT in Stage 5 CKD Subjects on Hemodialysis Completed NCT00418600 Phase 4 Hectorol® (doxercalciferol capsules);doxercalciferol capsules, Hectorol®;doxercalciferol capsules, Hectorol® capsules
8 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
9 A Phase 4, Multi Center, Open-Label, Randomized Study to Determine Clinically Appropriate Doses of Hectorol® (Doxercalciferol Capsules) When Converting From Zemplar® (Paricalcitol Injection) for the Treatment of Secondary Hyperparathyroidism in Stage 5 Chronic Kidney Disease (CKD) Subjects on Hemodialysis. Completed NCT00463021 Phase 4 Hectorol (doxercalciferol capsules);Zemplar (paricalcitol injection)
10 A Randomized , Open-Label, Cross-over, Pharmacokinetic Study of Doxercalciferol and Paricalcitol Following Multiple Intravenous Injections in Chronic Kidney Disease Subjects on Hemodialysis Completed NCT00454350 Phase 4 Hectorol (doxercalciferol injection);Zemplar (Paricalcitol injection)
11 A Study To Assess Achievement of NKF K/DOQI Targets Using Sensipar (Cinacalcet) in Australian Subjects With End Stage Renal Disease (ESRD) Who Are Being Treated With Aranesp for Anaemia Management Completed NCT00431496 Phase 4 Cinacalcet
12 A Phase 4 Randomized Multicenter Open Label Trial of Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3 or 4 Ckd Patients With Secondary Hyperparathyroidism Completed NCT00823303 Phase 4 Paricalcitol;Calcitriol
13 Effect of Doxercalciferol on Endothelial Cell Function in End Stage Renal Disease Completed NCT00528788 Phase 4 doxercalciferol
14 Prospective, Non-randomized, Multicenter Study to Assess the Efficacy and Safety of Oral or Intravenous Paricalcitol Administered Over 6 Months to Patients With Secondary Hyperparathyroidism on Dialysis Completed NCT00537979 Phase 4 Paricalcitol injection;Paricalcitol capsules
15 A Multi-center Study Evaluating Efficacy and Safety of Cinacalcet Hydrochloride(HCL) in Calcium, Phosphorus and Intact Parathyroid Hormone(iPTH) Serum Levels in Chinese Chronic Kidney Disease(CKD) Hemodialysis(HD) Patients With Mild, Moderate and Severe Secondary Hyperparathyroidism(SHPT) Completed NCT03123406 Phase 4 Cinacalcet HCl
16 Effect of Cinacalcet Treatment on Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
17 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
18 Trial to Optimize Mineral Outcomes in End Stage Renal Disease (ESRD) Patients Completed NCT01100723 Phase 4
19 Safety and Effectiveness of Zemplar Injection in Decreasing iPTH Levels in Pediatric ESRD Subjects on Hemodialysis Completed NCT00053547 Phase 4 paricalcitol injection
20 Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4 Sensipar
21 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
22 An Open-Label, Repeated-Dose Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of Oral CTAP101 Capsules, Immediate- Release (IR) Calcifediol, High-Dose Cholecalciferol, and Paricalcitol Plus Low-Dose Cholecalciferol in Patients With Secondary Hyperparathyroidism, Stage 3 or 4 Chronic Kidney Disease and Vitamin D Insufficiency Completed NCT03588884 Phase 4 Calcifediol Oral Capsule;Calcifediol Oral Product;Cholecalciferol;Paricalcitol Oral Capsule
23 ACHIEVE: Optimizing the Treatment of Secondary Hyperparathyroidism: A Comparison of Sensipar® and Low Dose Vitamin D vs. Escalating Doses of Vitamin D Alone Completed NCT00135304 Phase 4 Sensipar®;Vitamin D
24 A Phase IV, Single-Center, Active-Controlled Cross-Over Pilot Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium Completed NCT00073710 Phase 4 Zemplar;Calcijex
25 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
26 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients: A Randomized Controlled Trial Completed NCT03182699 Phase 4
27 A Phase 4, Single-Center, Open-Label, Randomized, Active-Controlled, Cross-over Pilot Study to Evaluate the Effects of Two Vitamin D Analogs, Zemplar® Injection and Hectorol® Injection, on Intestinal Absorption of Calcium in CKD Stage 5 Subjects on Hemodialysis Completed NCT00257920 Phase 4 Zemplar® injection;Hectorol® injection
28 Initial Dosing of Paricalcitol Based on iPTH Parathyroid Hormone Levels in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
29 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Completed NCT00288873 Phase 4 Ergocalciferol;Cholecalciferol
30 CARE-2 (Calcium Acetate (PhosLo®)/Sevelamer(Renagel®) Evaluation Study 2) Completed NCT00211939 Phase 4 calcium acetate;sevelamer;atorvastatin
31 Response of Secondary Hyperparathyroidism to Paricalcitol Versus Ergocalciferol in Patients With Stage 3 and 4 Chronic Kidney Disease With Vitamin D Deficiency: a Randomized Controlled Trial Completed NCT00958451 Phase 4 Paricalcitol;Ergocalciferol
32 A Randomized Trial Comparing Pulse Calcitriol and Alfacalcidol for the Treatment of Secondary Hyperparathyroidism in Hemodialysis Patients Completed NCT01115543 Phase 4 alfacalcidol and calcitriol
33 A Phase 4, Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Assess the Efficacy and Safety of Doxercalciferol Capsules in Vitamin D-replete Subjects With Chronic Kidney Disease (CKD) Stages 3 or 4 With Secondary Hyperparathyroidism (SHPT). Completed NCT00123461 Phase 4 Hectorol (doxercalciferol capsules), 0.5mcg
34 The IMPACT SHPT Study: Study to Evaluate the Improved Management of iPTH With Paricalcitol-centered Therapy vs. Cinacalcet Therapy With Low-dose Vitamin D in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00977080 Phase 4 Paricalcitol;Cinacalcet
35 Effectiveness and Safety of a 6-Month Treatment With IV Zemplar in Patients on Hemodialysis and With Secondary Hyperparathyroidism Using iPTH/100 as Initial Dose Completed NCT00891813 Phase 4 Zemplar (paricalcitol)
36 Phase 4 Study of Cinacalcet Efficacy in Combination With Vitamin D for the Treatment of Secondary Hyperparathyroidism in Peritoneal Dialysis Patients Completed NCT01101113 Phase 4 cinacalcet;control
37 Comparison of Medical Therapy (Oral Cinacalcet) Versus Surgical Therapy (Total Parathyroidectomy) on Vascular/Valvular Calcification in Chronic Peritoneal Dialysis Patients With Secondary Hyperparathyroidism - A Pilot Randomized Study Completed NCT01447368 Phase 4 Cinacalcet
38 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
39 A Prospective, Non-randomised, Single-arm, Open-Label Pilot Clinical Study Evaluating the Effect of PTH Lowering on Erythropoietin Consumption in Calcitriol-Resistant Patients Completed NCT01506947 Phase 4 Paricalcitol;Darbepoetin alfa
40 Randomized Controlled Trial of Vitamin D Repletion Regimens in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
41 A Prospective, Randomized Trial to Compare Subtotal Parathyroidectomy Versus Cinacalcet in the Treatment of Persistent Secondary Hyperparathyroidism Post Renal Transplantation Completed NCT01178450 Phase 4 Cinacalcet
42 A Multicenter, Randomized, Open Label Study to Compare the Efficacy of Cinacalcet Versus Traditional Vitamin D Therapy for Management of Secondary Hyperparathyroidism Among Subjects Undergoing Hemodialysis Completed NCT01181531 Phase 4 Traditional Vitamin D Therapy;Cinacalcet
43 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
44 A Randomized Trial Comparing an Integrated Care Approach Using Electronic Cinacalcet Adherence Data Versus Usual Care to Improve Secondary Hyperparathyroidism in Hemodialysis Patients Completed NCT01573520 Phase 4
45 Management of Osteoporosis in Patients With Primary Hyperparathyroidism Enrolling by invitation NCT04085419 Phase 4 Denosumab 60 MG/ML Prefilled Syringe [Prolia];Zoledronic Acid
46 Efficacy and Safety of Paricalcitol on the Treatment of Secondary Hyperparathyroidism in Calcitriol Resistant Dialysis Subjects Terminated NCT00664430 Phase 4 Calcitriol;Paricalcitol
47 Mineral Metabolism and Vascular Effects of Vitamin D Therapy in Kidney Terminated NCT00646282 Phase 4 doxercalciferol
48 Cinacalcet for Secondary Hyperparathyroidism in Patients Receiving Hemodialysis Terminated NCT00446329 Phase 4 cinacalcet
49 The Efficacy of 1,25 Dihydroxycholecalciferol on the Cardiovascular System in Patients With Renal Dysfunction Terminated NCT00175149 Phase 4 Alfacalcidiol
50 A Randomized, Prospective, Cross-Over Study of Calcitriol vs. Paricalcitol in the Treatment of Mineral and Bone Disease in Hemodialysis Patients Terminated NCT01725113 Phase 4 Calcitriol;Paricalcitol

Search NIH Clinical Center for Hyperparathyroidism

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcitriol
Cod Liver Oil
Dihydrotachysterol
Doxercalciferol
paricalcitol

Cochrane evidence based reviews: hyperparathyroidism

Genetic Tests for Hyperparathyroidism

Genetic tests related to Hyperparathyroidism:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 28

Anatomical Context for Hyperparathyroidism

Organs/tissues related to Hyperparathyroidism:

MalaCards : Kidney, Bone, Thyroid, Liver, Pituitary, Heart, Breast

Publications for Hyperparathyroidism

Articles related to Hyperparathyroidism:

(show top 50) (show all 25407)
# Title Authors PMID Year
1
The fibroblast growth factor 23: a new player in the field of cardiovascular, bone and renal disease. 53 62
20180772 2010
2
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 53 62
20164288 2010
3
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 53 62
19953642 2010
4
A physiologically based mathematical model of integrated calcium homeostasis and bone remodeling. 53 62
19732857 2010
5
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. 53 62
19789209 2009
6
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A. 53 62
19558618 2009
7
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 53 62
19389809 2009
8
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 53 62
19474519 2009
9
An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. 53 62
18500673 2009
10
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 53 62
19179454 2009
11
Analyses of age, gender and other risk factors of erythropoietin resistance in pediatric and adult dialysis cohorts. 53 62
18800231 2009
12
[Primary hyperparathyroidism]. 53 62
19421129 2009
13
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 53 62
19148484 2009
14
Analysis of CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, as a candidate tumor suppressor gene in primary and severe secondary/tertiary hyperparathyroidism. 53 62
18767934 2009
15
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 53 62
18775977 2008
16
Effect of parathyroidectomy on anemia and erythropoietin dosing in end-stage renal disease patients with hyperparathyroidism. 53 62
19040997 2008
17
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 53 62
18796518 2008
18
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 53 62
18987311 2008
19
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? 53 62
19169472 2008
20
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 53 62
18436011 2008
21
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 53 62
18288099 2008
22
Does vitamin D receptor and calcium receptor activation therapy play a role in the histopathologic alterations of parathyroid glands in refractory uremic hyperparathyroidism? 53 62
18322048 2008
23
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 53 62
18328986 2008
24
Recent updates on the calcium-sensing receptor as a drug target. 53 62
18220773 2008
25
A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature. 53 62
18036394 2007
26
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. 53 62
18063086 2007
27
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 53 62
17158076 2007
28
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. 53 62
17974727 2007
29
Human RNA polymerase II-associated factor complex: dysregulation in cancer. 53 62
17599057 2007
30
New insights into nephrogenic systemic fibrosis. 53 62
17855637 2007
31
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 53 62
17555508 2007
32
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 53 62
17891358 2007
33
Diseases and clinical applications of the calcium sensing receptor. 53 62
17925789 2007
34
The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. 53 62
17647146 2007
35
Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. 53 62
17639063 2007
36
Sexual function in chronic kidney disease. 53 62
17395114 2007
37
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 53 62
17314275 2007
38
Inherited endocrine diseases involving G proteins and G protein-coupled receptors. 53 62
17986833 2007
39
Does parathyroid hormone affect erythropoietin therapy in dialysis patients? 53 62
17159367 2007
40
FGF23: its role in renal bone disease. 53 62
16932898 2006
41
Parafibromin inhibits cancer cell growth and causes G1 phase arrest. 53 62
16989776 2006
42
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. 53 62
16995822 2006
43
Regulation of parathyroid function in chronic kidney disease (CKD). 53 62
17009074 2006
44
The calcium-sensing receptor and related diseases. 53 62
17117288 2006
45
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 53 62
16720667 2006
46
Persistent hyperparathyroidism in renal allograft recipients: vitamin D receptor, calcium-sensing receptor, and apoptosis. 53 62
16738533 2006
47
Basic and clinical aspects of parathyroid hyperplasia in chronic kidney disease. 53 62
16810308 2006
48
The calcium-sensing receptor and vitamin D receptor expression in tertiary hyperparathyroidism. 53 62
16596260 2006
49
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 53 62
16487440 2006
50
Hypercalcemia of malignancy due to ectopic transactivation of the parathyroid hormone gene. 53 62
16263810 2006

Variations for Hyperparathyroidism

ClinVar genetic disease variations for Hyperparathyroidism:

5 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV6 NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) SNV Likely Pathogenic
818220 rs780306040 GRCh37: 7:142570162-142570162
GRCh38: 7:142872409-142872409
2 MEN1 NM_001370259.2(MEN1):c.1186-10C>T SNV Uncertain Significance
305313 rs762303621 GRCh37: 11:64572680-64572680
GRCh38: 11:64805208-64805208
3 MEN1 NM_001370259.2(MEN1):c.*392G>A SNV Uncertain Significance
305304 rs886048475 GRCh37: 11:64571414-64571414
GRCh38: 11:64803942-64803942
4 MEN1 NM_001370259.2(MEN1):c.*529A>G SNV Uncertain Significance
305300 rs886048472 GRCh37: 11:64571277-64571277
GRCh38: 11:64803805-64803805
5 MEN1 NM_001370259.2(MEN1):c.*560G>T SNV Uncertain Significance
305297 rs886048470 GRCh37: 11:64571246-64571246
GRCh38: 11:64803774-64803774
6 MEN1 NM_001370259.2(MEN1):c.*533C>T SNV Uncertain Significance
305299 rs879327862 GRCh37: 11:64571273-64571273
GRCh38: 11:64803801-64803801
7 MEN1 NM_001370259.2(MEN1):c.*470A>G SNV Uncertain Significance
305302 rs778272737 GRCh37: 11:64571336-64571336
GRCh38: 11:64803864-64803864
8 MEN1 NM_001370259.2(MEN1):c.*438C>T SNV Uncertain Significance
305303 rs886048474 GRCh37: 11:64571368-64571368
GRCh38: 11:64803896-64803896
9 MEN1 NM_001370259.2(MEN1):c.*89G>A SNV Uncertain Significance
305312 rs886048478 GRCh37: 11:64571717-64571717
GRCh38: 11:64804245-64804245
10 MEN1 NM_001370259.2(MEN1):c.*527G>T SNV Uncertain Significance
305301 rs886048473 GRCh37: 11:64571279-64571279
GRCh38: 11:64803807-64803807
11 MEN1 NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) SNV Uncertain Significance
305314 rs773976527 GRCh37: 11:64577255-64577255
GRCh38: 11:64809783-64809783
12 MEN1 NM_001370259.2(MEN1):c.*272T>C SNV Uncertain Significance
305309 rs563783609 GRCh37: 11:64571534-64571534
GRCh38: 11:64804062-64804062
13 MEN1 NM_001370259.2(MEN1):c.*570C>A SNV Uncertain Significance
305296 rs886048469 GRCh37: 11:64571236-64571236
GRCh38: 11:64803764-64803764
14 MEN1 NM_001370259.2(MEN1):c.*373G>C SNV Uncertain Significance
305305 rs886048476 GRCh37: 11:64571433-64571433
GRCh38: 11:64803961-64803961
15 MEN1 NM_001370259.2(MEN1):c.*557C>A SNV Uncertain Significance
305298 rs886048471 GRCh37: 11:64571249-64571249
GRCh38: 11:64803777-64803777
16 MEN1 NM_001370259.2(MEN1):c.*104C>T SNV Uncertain Significance
305311 rs886048477 GRCh37: 11:64571702-64571702
GRCh38: 11:64804230-64804230
17 MEN1 NM_001370259.2(MEN1):c.-23-14G>C SNV Uncertain Significance
305316 rs886048479 GRCh37: 11:64577618-64577618
GRCh38: 11:64810146-64810146
18 MEN1 NM_001370259.2(MEN1):c.*693T>C SNV Uncertain Significance
877477 rs1229690026 GRCh37: 11:64571113-64571113
GRCh38: 11:64803641-64803641
19 MEN1 NM_001370259.2(MEN1):c.849G>T (p.Leu283=) SNV Uncertain Significance
877570 rs1592646641 GRCh37: 11:64574546-64574546
GRCh38: 11:64807074-64807074
20 MEN1 NM_001370259.2(MEN1):c.*400G>A SNV Uncertain Significance
878507 rs1351825181 GRCh37: 11:64571406-64571406
GRCh38: 11:64803934-64803934
21 MEN1 NM_001370259.2(MEN1):c.*341C>G SNV Uncertain Significance
878508 rs892949876 GRCh37: 11:64571465-64571465
GRCh38: 11:64803993-64803993
22 MEN1 NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) SNV Uncertain Significance
878550 rs1941555781 GRCh37: 11:64572225-64572225
GRCh38: 11:64804753-64804753
23 MEN1 NM_001370259.2(MEN1):c.655-6C>G SNV Uncertain Significance
241822 rs77461664 GRCh37: 11:64575158-64575158
GRCh38: 11:64807686-64807686
24 MEN1 NM_001370259.2(MEN1):c.*245C>T SNV Uncertain Significance
879089 rs1941463518 GRCh37: 11:64571561-64571561
GRCh38: 11:64804089-64804089
25 MEN1 NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) SNV Uncertain Significance
879189 rs1488275961 GRCh37: 11:64577308-64577308
GRCh38: 11:64809836-64809836
26 MEN1 NM_001370259.2(MEN1):c.*126C>T SNV Uncertain Significance
880309 rs138595686 GRCh37: 11:64571680-64571680
GRCh38: 11:64804208-64804208
27 MEN1 NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) SNV Uncertain Significance
880344 rs1941725569 GRCh37: 11:64573788-64573788
GRCh38: 11:64806316-64806316
28 MEN1 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) SNV Uncertain Significance
188265 rs141679530 GRCh37: 11:64572104-64572104
GRCh38: 11:64804632-64804632
29 MEN1 NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) SNV Uncertain Significance
215962 rs373669288 GRCh37: 11:64571875-64571875
GRCh38: 11:64804403-64804403
30 MEN1 NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) SNV Uncertain Significance
161295 rs199706698 GRCh37: 11:64575454-64575454
GRCh38: 11:64807982-64807982
31 MEN1 NM_130799.2(MEN1):c.-94G>A SNV Uncertain Significance
305319 rs886048480 GRCh37: 11:64578172-64578172
GRCh38: 11:64810700-64810700
32 MEN1 NM_130799.2(MEN1):c.-106T>C SNV Uncertain Significance
305320 rs886048481 GRCh37: 11:64578184-64578184
GRCh38: 11:64810712-64810712
33 MEN1 NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) SNV Uncertain Significance
36524 rs138770431 GRCh37: 11:64572560-64572560
GRCh38: 11:64805088-64805088
34 MEN1 NM_001370259.2(MEN1):c.774G>C (p.Gln258His) SNV Uncertain Significance
41855 rs374659656 GRCh37: 11:64575033-64575033
GRCh38: 11:64807561-64807561
35 MEN1 NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) SNV Uncertain Significance
305315 rs541476418 GRCh37: 11:64577521-64577521
GRCh38: 11:64810049-64810049
36 MEN1 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) SNV Uncertain Significance
200987 rs745404679 GRCh37: 11:64572021-64572021
GRCh38: 11:64804549-64804549
37 MEN1 NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) SNV Uncertain Significance
485711 rs771645621 GRCh37: 11:64573812-64573812
GRCh38: 11:64806340-64806340
38 MEN1 NM_001370259.2(MEN1):c.762G>A (p.Leu254=) SNV Uncertain Significance
215966 rs199909967 GRCh37: 11:64575045-64575045
GRCh38: 11:64807573-64807573
39 MEN1 NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) SNV Uncertain Significance
188099 rs750112288 GRCh37: 11:64572230-64572230
GRCh38: 11:64804758-64804758
40 MEN1 NM_001370259.2(MEN1):c.1351-4C>T SNV Uncertain Significance
215961 rs764408631 GRCh37: 11:64572292-64572292
GRCh38: 11:64804820-64804820
41 MEN1 NM_001370259.2(MEN1):c.753C>T (p.Thr251=) SNV Uncertain Significance
412561 rs763326062 GRCh37: 11:64575054-64575054
GRCh38: 11:64807582-64807582
42 MEN1 NM_001370259.2(MEN1):c.570G>A (p.Gly190=) SNV Uncertain Significance
412579 rs547249181 GRCh37: 11:64575447-64575447
GRCh38: 11:64807975-64807975
43 MEN1 NM_001370259.2(MEN1):c.1049+9C>T SNV Uncertain Significance
36519 rs200517349 GRCh37: 11:64573695-64573695
GRCh38: 11:64806223-64806223
44 MEN1 NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) SNV Uncertain Significance
255616 rs371364206 GRCh37: 11:64573750-64573750
GRCh38: 11:64806278-64806278
45 MEN1 NM_001370259.2(MEN1):c.30G>T (p.Leu10=) SNV Uncertain Significance
136169 rs371192390 GRCh37: 11:64577552-64577552
GRCh38: 11:64810080-64810080
46 MEN1 NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) SNV Likely Benign
41854 rs607969 GRCh37: 11:64575505-64575505
GRCh38: 11:64808033-64808033
47 MEN1 NM_001370259.2(MEN1):c.655-6C>T SNV Likely Benign
96253 rs77461664 GRCh37: 11:64575158-64575158
GRCh38: 11:64807686-64807686
48 MEN1 NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) SNV Likely Benign
136166 rs375804228 GRCh37: 11:64572131-64572131
GRCh38: 11:64804659-64804659
49 MEN1 NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) SNV Likely Benign
161294 rs143329068 GRCh37: 11:64575506-64575506
GRCh38: 11:64808034-64808034
50 MEN1 NM_001370259.2(MEN1):c.*185C>T SNV Likely Benign
305310 rs111895237 GRCh37: 11:64571621-64571621
GRCh38: 11:64804149-64804149

Expression for Hyperparathyroidism

Search GEO for disease gene expression data for Hyperparathyroidism.

Pathways for Hyperparathyroidism

GO Terms for Hyperparathyroidism

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 10.3 CDC73 CDKN1B CYP27B1 MEN1 PTHLH VDR
2 skeletal system development GO:0001501 10.1 VDR PTHLH PTH PHEX BGLAP
3 response to estrogen GO:0043627 10.05 EPO CYP27B1 BGLAP
4 cellular calcium ion homeostasis GO:0006874 10.02 VDR PTH GCM2 CASR CALCA
5 negative regulation of epithelial cell proliferation GO:0050680 9.98 MEN1 CDKN1B CDC73
6 decidualization GO:0046697 9.95 VDR MEN1 CYP27B1
7 osteoblast development GO:0002076 9.91 BGLAP MEN1 PTHLH
8 response to sodium phosphate GO:1904383 9.87 PHEX FGF23
9 calcium ion homeostasis GO:0055074 9.87 TRPV6 PTH FGF23 CYP27B1
10 response to fibroblast growth factor GO:0071774 9.86 PTH CASR
11 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.85 VDR CYP27B1
12 regulation of bone mineralization GO:0030500 9.85 FGF23 CYP27B1 BGLAP
13 cAMP metabolic process GO:0046058 9.81 PTHLH PTH
14 vitamin D catabolic process GO:0042369 9.8 FGF23 CYP27B1
15 response to vitamin D GO:0033280 9.8 BGLAP CYP27B1 PHEX PTH
16 negative regulation of calcium ion transport into cytosol GO:0010523 9.71 EPO CALCA
17 bone mineralization GO:0030282 9.65 PTHLH PTH PHEX CYP27B1 BGLAP
18 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.63 VDR FGF23 CYP27B1
19 cellular response to vitamin D GO:0071305 9.23 PHEX FGF23 CASR BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.32 PTHLH PTH GAST EPO CALCA
2 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH

Sources for Hyperparathyroidism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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