MCID: HYP069
MIFTS: 63

Hyperparathyroidism

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism

MalaCards integrated aliases for Hyperparathyroidism:

Name: Hyperparathyroidism 12 74 29 54 6 43 15 39 17 71

Classifications:



External Ids:

Disease Ontology 12 DOID:13543
ICD9CM 34 252.0
MeSH 43 D006961
NCIt 49 C48259
SNOMED-CT 67 66999008
ICD10 32 E21.3
UMLS 71 C0020502

Summaries for Hyperparathyroidism

Disease Ontology : 12 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 is related to hyperparathyroidism 1 and hyperparathyroidism 2 with jaw tumors. An important gene associated with Hyperparathyroidism is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Nicotinamide and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 891)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 35.3 MEN1 GCM2 CDC73
2 hyperparathyroidism 2 with jaw tumors 35.2 RET MEN1 CDC73 CASR
3 hyperparathyroidism, neonatal severe 35.0 TRPV6 PRKAR1A CASR
4 osteitis fibrosa 33.5 PTH FGF23 CDC73 CASR CALCA BGLAP
5 parathyroid carcinoma 33.2 RET PTH MEN1 CDC73 CASR CALCA
6 multiple endocrine neoplasia 33.0 RET PRKAR1A MEN1 CDKN1B CALCA
7 multiple endocrine neoplasia, type iia 32.9 RET PTH MEN1 CDKN1B CDC73 CALCA
8 pseudohypoparathyroidism, type ib 32.8 PTHLH PTH BGLAP
9 multiple endocrine neoplasia, type i 32.7 RET PTH PRKAR1A MEN1 CDKN1B CDC73
10 primary hyperparathyroidism 32.7 VDR TNFRSF11B RET PTHLH PTH PRKAR1A
11 multiple endocrine neoplasia, type iv 32.6 RET PRKAR1A MEN1 CDKN1B CDC73
12 nephrocalcinosis 32.6 PTH PHEX FGF23 CASR
13 secondary hyperparathyroidism 32.2 VDR TNFRSF11B PTH PHEX MEN1 FGF23
14 adenoma 32.1 RET PTH PRKAR1A MEN1 CDC73 CASR
15 rickets 31.9 VDR PTH PHEX FGF23 CYP27B1 CASR
16 parathyroid adenoma 31.8 VDR RET PTHLH PTH PRKAR1A MEN1
17 vitamin d-dependent rickets, type 2a 31.7 VDR PHEX CYP27B1
18 goiter 31.7 RET CALCA BGLAP
19 urolithiasis 31.6 VDR CASR BGLAP
20 nephrolithiasis 31.4 VDR TNFRSF11B PTH MEN1 FGF23 CASR
21 thyroid gland medullary carcinoma 31.3 RET MEN1 CALCA
22 thyroid gland disease 31.3 RET PTH CALCA
23 hypocalciuric hypercalcemia, familial, type i 31.3 PTH CDC73 CASR
24 hyperthyroidism 31.2 PTH CALCA BGLAP ACP5
25 multinodular goiter 31.2 RET PTH CALCA
26 uremia 31.1 VDR TNFRSF11B PTH MEN1 EPO CASR
27 hypercalcemia, infantile, 1 31.1 VDR PTHLH PTH CASR CALCA
28 familial hypocalciuric hypercalcemia 31.1 RET PTHLH PTH MEN1 GCM2 CDC73
29 calciphylaxis 31.1 VDR PTH FGF23 EPO CASR
30 thyroid carcinoma, familial medullary 31.0 RET PRKAR1A MEN1 CALCA
31 clear cell adenoma 31.0 PTH CDC73
32 kidney disease 31.0 VDR TNFRSF11B PTH FGF23 EPO CYP27B1
33 idiopathic hypercalciuria 30.9 VDR PRKAR1A CASR BGLAP
34 calcinosis 30.8 PHEX FGF23 CALCA
35 differentiated thyroid carcinoma 30.8 TNFRSF11B RET BGLAP
36 mammary paget's disease 30.7 TNFRSF11B PTH CALCA BGLAP ACP5
37 parathyroid transitional clear cell adenoma 30.6 PTH MEN1
38 paraganglioma 30.6 RET MEN1 CALCA
39 follicular adenoma 30.6 RET MEN1 CDKN1B CALCA
40 hyperphosphatemia 30.6 VDR TNFRSF11B PTH PHEX GCM2 FGF23
41 hypoparathyroidism 30.5 VDR RET PTHLH PTH PRKAR1A GCM2
42 pseudohypoparathyroidism 30.5 PTHLH PTH PRKAR1A CALCA BGLAP
43 spondyloarthropathy 1 30.5 TNFRSF11B PTH BGLAP
44 bone resorption disease 30.4 VDR TNFRSF11B PTHLH PTH FGF23 CASR
45 hypervitaminosis a 30.4 PTH CDKN1B BGLAP
46 osteogenic sarcoma 30.4 VDR TNFRSF11B PTHLH PTH BGLAP
47 paget's disease of bone 30.4 TNFRSF11B PTH CALCA BGLAP ACP5
48 hypophosphatemic rickets, x-linked recessive 30.4 VDR PHEX FGF23 CYP27B1
49 chronic kidney disease 30.3 VDR TNFRSF11B PTH FGF23 EPO CYP27B1
50 fibrous dysplasia 30.3 TNFRSF11B PTHLH FGF23 CDC73 CALCA BGLAP

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


Acute Cystitis 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.6 CDKN1B PRKAR1A RET TNFRSF11B TRPV6
2 Decreased viability GR00221-A-2 9.6 PRKAR1A RET TNFRSF11B TRPV6
3 Decreased viability GR00221-A-3 9.6 PRKAR1A TRPV6
4 Decreased viability GR00221-A-4 9.6 PRKAR1A RET TRPV6
5 Decreased viability GR00249-S 9.6 TNFRSF11B
6 Decreased viability GR00301-A 9.6 RET
7 Decreased viability GR00402-S-2 9.6 RET TNFRSF11B TRPV6

MGI Mouse Phenotypes related to Hyperparathyroidism:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.47 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
2 endocrine/exocrine gland MP:0005379 10.38 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
3 growth/size/body region MP:0005378 10.37 CASR CDC73 CDKN1B CYP27B1 FGF23 MEN1
4 hematopoietic system MP:0005397 10.36 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
5 cardiovascular system MP:0005385 10.35 CDC73 CDKN1B EPO FGF23 MEN1 PHEX
6 immune system MP:0005387 10.35 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
7 homeostasis/metabolism MP:0005376 10.34 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
8 craniofacial MP:0005382 10.3 CDC73 CDKN1B CYP27B1 GCM2 MEN1 PHEX
9 digestive/alimentary MP:0005381 10.25 CASR CDC73 CDKN1B FGF23 MEN1 PHEX
10 mortality/aging MP:0010768 10.21 CASR CDC73 CDKN1B EPO FGF23 GCM2
11 adipose tissue MP:0005375 10.13 BGLAP CDC73 CDKN1B CYP27B1 PHEX PRKAR1A
12 integument MP:0010771 10.11 CASR CDC73 CDKN1B CYP27B1 EPO FGF23
13 limbs/digits/tail MP:0005371 10.09 CYP27B1 EPO FGF23 PHEX PTH PTHLH
14 renal/urinary system MP:0005367 9.96 CASR CDC73 CDKN1B CYP27B1 FGF23 GCM2
15 liver/biliary system MP:0005370 9.95 CDC73 CDKN1B EPO MEN1 PHEX PRKAR1A
16 muscle MP:0005369 9.92 CASR CDC73 CDKN1B EPO MEN1 PRKAR1A
17 reproductive system MP:0005389 9.9 BGLAP CDC73 CDKN1B CYP27B1 FGF23 MEN1
18 respiratory system MP:0005388 9.5 CDC73 CDKN1B EPO FGF23 PRKAR1A PTHLH
19 skeleton MP:0005390 9.47 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO

Drugs & Therapeutics for Hyperparathyroidism

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

(show top 50) (show all 179)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
3
tannic acid Approved Phase 4 1401-55-4
4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
5
Calcium carbonate Approved, Investigational Phase 4 471-34-1
6
Darbepoetin alfa Approved, Investigational Phase 4 11096-26-7, 209810-58-2
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Racepinephrine Approved Phase 4 329-65-7 838
11
Phylloquinone Approved, Investigational Phase 4 84-80-0
12
Ethanol Approved Phase 4 64-17-5 702
13
Atorvastatin Approved Phase 4 134523-00-5 60823
14
Cinacalcet Approved Phase 4 226256-56-0 156419
15
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
16
Denosumab Approved Phase 4 615258-40-7
17
Zoledronic Acid Approved Phase 4 118072-93-8 68740
18
Sodium citrate Approved, Investigational Phase 4 68-04-2
19
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
20
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
22
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
24
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
25
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
26
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
27
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
28
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
29
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
30 Tocotrienol Investigational Phase 4 6829-55-6
31 Menaquinone Investigational Phase 4 1182-68-9
32
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
33 Vitamin B Complex Phase 4
34 Folate Phase 4
35 Vitamin B9 Phase 4
36 Vitamin B3 Phase 4
37 Nicotinic Acids Phase 4
38 Tocotrienols Phase 4
39 Tocopherols Phase 4
40 Protective Agents Phase 4
41 Pharmaceutical Solutions Phase 4
42 Antacids Phase 4
43 Anti-Ulcer Agents Phase 4
44 Gastrointestinal Agents Phase 4
45 Lipid Regulating Agents Phase 4
46 Hypolipidemic Agents Phase 4
47 Antimetabolites Phase 4
48 Angiotensin II Type 1 Receptor Blockers Phase 4
49 Angiotensinogen Phase 4
50 Angiotensin Receptor Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 424)
# 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 Additive Renoprotective Effects of Oral Calcitriol in Nondiabetic Chronic Kidney Disease Patients Unknown status NCT01512862 Phase 4 Calcitriol;Placebo
4 Regulation of Bone Mineralization in Renal Osteodystrophy Unknown status NCT01799317 Phase 4 Vitamin D2
5 The Efficacy and Safety of Niacin on Hyperphosphatemia in End Stage Renal Disease Patients Undergoing Haemodialysis Unknown status NCT03163576 Phase 4 Niacin;Phosphate Binder
6 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
7 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
8 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
9 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
10 Safety and Effectiveness of Zemplar Injection in Decreasing iPTH Levels in Pediatric ESRD Subjects on Hemodialysis Completed NCT00053547 Phase 4 paricalcitol injection
11 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
12 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)
13 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
14 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)
15 Effect of Cinacalcet Treatment on Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
16 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
17 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
18 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
19 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
20 Randomized Controlled Trial of Vitamin D Repletion Regimens in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
21 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
22 Initial Dosing of Paricalcitol Based on iPTH Parathyroid Hormone Levels in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
23 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
24 Effect of Doxercalciferol on Endothelial Cell Function in End Stage Renal Disease Completed NCT00528788 Phase 4 doxercalciferol
25 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
26 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Renal Transplantation. Completed NCT01939977 Phase 4 Paricalcitol;Calcifediol
27 A Randomized Trial Comparing Pulse Calcitriol and Alfacalcidol for the Treatment of Secondary Hyperparathyroidism in Hemodialysis Patients Completed NCT01115543 Phase 4 alfacalcidol and calcitriol
28 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
29 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
30 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
31 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
32 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
33 Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4 Sensipar
34 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
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 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
37 Physiologic Interactions Between the Adrenal- and the Parathyroid Glands Completed NCT02572960 Phase 4 Valsartan;Placebo Valsartan
38 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
39 An Open-Label, Randomised Study Using Cinacalcet to Improve Achievement of Kidney Disease Outcomes Quality Initiative (K/DOQI) Targets in Patients With ESRD Completed NCT00110890 Phase 4 cinacalcet
40 A Pilot Study to Evaluate the Efficacy of Total Parathyroidectomy in Retarding Cardiovascular Calcification in End-stage Renal Disease Patients Completed NCT00745719 Phase 4
41 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
42 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Completed NCT00288873 Phase 4 Ergocalciferol;Cholecalciferol
43 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
44 Direct Effect of Paricalcitol on Anemia in Chronic Kidney Disease Completed NCT01768351 Phase 4 Paricalcitol;Calcitriol
45 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
46 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
47 Effect of Phosphate Binders on FGF-23 During Calcitriol Administration in CKD Stage 3 Patients Completed NCT01748396 Phase 4 Calcitriol;Calcium Carbonate
48 Trial to Optimize Mineral Outcomes in End Stage Renal Disease (ESRD) Patients Completed NCT01100723 Phase 4
49 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
50 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients: A Randomized Controlled Trial Completed NCT03182699 Phase 4

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 29

Anatomical Context for Hyperparathyroidism

MalaCards organs/tissues related to Hyperparathyroidism:

40
Bone, Kidney, Thyroid, Testes, Heart, Breast, Liver

Publications for Hyperparathyroidism

Articles related to Hyperparathyroidism:

(show top 50) (show all 23421)
# Title Authors PMID Year
1
The fibroblast growth factor 23: a new player in the field of cardiovascular, bone and renal disease. 61 54
20180772 2010
2
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 54 61
20164288 2010
3
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 54 61
19953642 2010
4
A physiologically based mathematical model of integrated calcium homeostasis and bone remodeling. 61 54
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. 61 54
19789209 2009
6
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A. 54 61
19558618 2009
7
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 61 54
19389809 2009
8
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 54 61
19474519 2009
9
An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. 61 54
18500673 2009
10
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 61 54
19179454 2009
11
Analyses of age, gender and other risk factors of erythropoietin resistance in pediatric and adult dialysis cohorts. 54 61
18800231 2009
12
[Primary hyperparathyroidism]. 61 54
19421129 2009
13
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 61 54
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. 54 61
18767934 2009
15
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 61 54
18796518 2008
16
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 61 54
18775977 2008
17
Effect of parathyroidectomy on anemia and erythropoietin dosing in end-stage renal disease patients with hyperparathyroidism. 61 54
19040997 2008
18
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? 54 61
19169472 2008
19
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 61 54
18987311 2008
20
Does vitamin D receptor and calcium receptor activation therapy play a role in the histopathologic alterations of parathyroid glands in refractory uremic hyperparathyroidism? 61 54
18322048 2008
21
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 54 61
18288099 2008
22
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 61 54
18436011 2008
23
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 61 54
18328986 2008
24
Recent updates on the calcium-sensing receptor as a drug target. 54 61
18220773 2008
25
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. 54 61
18063086 2007
26
A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature. 54 61
18036394 2007
27
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 61 54
17158076 2007
28
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. 61 54
17974727 2007
29
Human RNA polymerase II-associated factor complex: dysregulation in cancer. 61 54
17599057 2007
30
New insights into nephrogenic systemic fibrosis. 61 54
17855637 2007
31
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 61 54
17891358 2007
32
Diseases and clinical applications of the calcium sensing receptor. 54 61
17925789 2007
33
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 54 61
17555508 2007
34
The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. 61 54
17647146 2007
35
Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. 61 54
17639063 2007
36
Sexual function in chronic kidney disease. 54 61
17395114 2007
37
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 61 54
17314275 2007
38
Inherited endocrine diseases involving G proteins and G protein-coupled receptors. 54 61
17986833 2007
39
Does parathyroid hormone affect erythropoietin therapy in dialysis patients? 54 61
17159367 2007
40
FGF23: its role in renal bone disease. 54 61
16932898 2006
41
Parafibromin inhibits cancer cell growth and causes G1 phase arrest. 61 54
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. 61 54
16995822 2006
43
Regulation of parathyroid function in chronic kidney disease (CKD). 61 54
17009074 2006
44
The calcium-sensing receptor and related diseases. 54 61
17117288 2006
45
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 54 61
16720667 2006
46
Basic and clinical aspects of parathyroid hyperplasia in chronic kidney disease. 54 61
16810308 2006
47
Persistent hyperparathyroidism in renal allograft recipients: vitamin D receptor, calcium-sensing receptor, and apoptosis. 54 61
16738533 2006
48
The calcium-sensing receptor and vitamin D receptor expression in tertiary hyperparathyroidism. 54 61
16596260 2006
49
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 54 61
16487440 2006
50
Hypercalcemia of malignancy due to ectopic transactivation of the parathyroid hormone gene. 54 61
16263810 2006

Variations for Hyperparathyroidism

ClinVar genetic disease variations for Hyperparathyroidism:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV6 NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg)SNV Likely pathogenic 818220 7:142570162-142570162 7:142872409-142872409
2 MEN1 NM_001370259.2(MEN1):c.*126C>TSNV Conflicting interpretations of pathogenicity 880309 11:64571680-64571680 11:64804208-64804208
3 MEN1 NM_000244.3(MEN1):c.1064+9C>TSNV Conflicting interpretations of pathogenicity 36519 rs200517349 11:64573695-64573695 11:64806223-64806223
4 MEN1 NM_000244.3(MEN1):c.1311G>A (p.Leu437=)SNV Conflicting interpretations of pathogenicity 36524 rs138770431 11:64572560-64572560 11:64805088-64805088
5 MEN1 NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)SNV Conflicting interpretations of pathogenicity 41854 rs607969 11:64575505-64575505 11:64808033-64808033
6 MEN1 NM_000244.3(MEN1):c.789G>C (p.Gln263His)SNV Conflicting interpretations of pathogenicity 41855 rs374659656 11:64575033-64575033 11:64807561-64807561
7 MEN1 NM_000244.3(MEN1):c.585G>A (p.Gly195=)SNV Conflicting interpretations of pathogenicity 412579 rs547249181 11:64575447-64575447 11:64807975-64807975
8 MEN1 NM_000244.3(MEN1):c.768C>T (p.Thr256=)SNV Conflicting interpretations of pathogenicity 412561 rs763326062 11:64575054-64575054 11:64807582-64807582
9 MEN1 NM_000244.3(MEN1):c.670-6C>TSNV Conflicting interpretations of pathogenicity 96253 rs77461664 11:64575158-64575158 11:64807686-64807686
10 MEN1 NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)SNV Conflicting interpretations of pathogenicity 161294 rs143329068 11:64575506-64575506 11:64808034-64808034
11 MEN1 NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu)SNV Conflicting interpretations of pathogenicity 188265 rs141679530 11:64572104-64572104 11:64804632-64804632
12 MEN1 NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu)SNV Conflicting interpretations of pathogenicity 188099 rs750112288 11:64572230-64572230 11:64804758-64804758
13 MEN1 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)SNV Conflicting interpretations of pathogenicity 200987 rs745404679 11:64572021-64572021 11:64804549-64804549
14 MEN1 NM_000244.3(MEN1):c.1779G>A (p.Lys593=)SNV Conflicting interpretations of pathogenicity 215962 rs373669288 11:64571875-64571875 11:64804403-64804403
15 MEN1 NM_000244.3(MEN1):c.1366-4C>TSNV Conflicting interpretations of pathogenicity 215961 rs764408631 11:64572292-64572292 11:64804820-64804820
16 MEN1 NM_000244.3(MEN1):c.777G>A (p.Leu259=)SNV Conflicting interpretations of pathogenicity 215966 rs199909967 11:64575045-64575045 11:64807573-64807573
17 MEN1 NM_001370259.2(MEN1):c.655-6C>GSNV Conflicting interpretations of pathogenicity 241822 rs77461664 11:64575158-64575158 11:64807686-64807686
18 MEN1 NM_000244.3(MEN1):c.1018C>A (p.Arg340=)SNV Conflicting interpretations of pathogenicity 255616 rs371364206 11:64573750-64573750 11:64806278-64806278
19 MEN1 NM_000244.3(MEN1):c.30G>T (p.Leu10=)SNV Conflicting interpretations of pathogenicity 136169 rs371192390 11:64577552-64577552 11:64810080-64810080
20 MEN1 NM_001370259.2(MEN1):c.*470A>GSNV Conflicting interpretations of pathogenicity 305302 rs778272737 11:64571336-64571336 11:64803864-64803864
21 MEN1 NM_000244.3(MEN1):c.61C>A (p.Arg21Ser)SNV Conflicting interpretations of pathogenicity 305315 rs541476418 11:64577521-64577521 11:64810049-64810049
22 MEN1 NM_000244.3(MEN1):c.-106T>CSNV Uncertain significance 305320 rs886048481 11:64578184-64578184 11:64810712-64810712
23 MEN1 NM_000244.3(MEN1):c.*438C>TSNV Uncertain significance 305303 rs886048474 11:64571368-64571368 11:64803896-64803896
24 MEN1 NM_000244.3(MEN1):c.*373G>CSNV Uncertain significance 305305 rs886048476 11:64571433-64571433 11:64803961-64803961
25 MEN1 NM_000244.3(MEN1):c.*570C>ASNV Uncertain significance 305296 rs886048469 11:64571236-64571236 11:64803764-64803764
26 MEN1 NM_000244.3(MEN1):c.*533C>TSNV Uncertain significance 305299 rs879327862 11:64571273-64571273 11:64803801-64803801
27 MEN1 NM_000244.3(MEN1):c.327A>C (p.Glu109Asp)SNV Uncertain significance 305314 rs773976527 11:64577255-64577255 11:64809783-64809783
28 MEN1 NM_000244.3(MEN1):c.*104C>TSNV Uncertain significance 305311 rs886048477 11:64571702-64571702 11:64804230-64804230
29 MEN1 NM_000244.3(MEN1):c.1201-10C>TSNV Uncertain significance 305313 rs762303621 11:64572680-64572680 11:64805208-64805208
30 MEN1 NM_000244.3(MEN1):c.-94G>ASNV Uncertain significance 305319 rs886048480 11:64578172-64578172 11:64810700-64810700
31 MEN1 NM_000244.3(MEN1):c.*89G>ASNV Uncertain significance 305312 rs886048478 11:64571717-64571717 11:64804245-64804245
32 MEN1 NM_000244.3(MEN1):c.-23-14G>CSNV Uncertain significance 305316 rs886048479 11:64577618-64577618 11:64810146-64810146
33 MEN1 NM_000244.3(MEN1):c.*560G>TSNV Uncertain significance 305297 rs886048470 11:64571246-64571246 11:64803774-64803774
34 MEN1 NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)SNV Uncertain significance 161295 rs199706698 11:64575454-64575454 11:64807982-64807982
35 MEN1 NM_000244.3(MEN1):c.*272T>CSNV Uncertain significance 305309 rs563783609 11:64571534-64571534 11:64804062-64804062
36 MEN1 NM_000244.3(MEN1):c.*557C>ASNV Uncertain significance 305298 rs886048471 11:64571249-64571249 11:64803777-64803777
37 MEN1 NM_000244.3(MEN1):c.*529A>GSNV Uncertain significance 305300 rs886048472 11:64571277-64571277 11:64803805-64803805
38 MEN1 NM_000244.3(MEN1):c.*527G>TSNV Uncertain significance 305301 rs886048473 11:64571279-64571279 11:64803807-64803807
39 MEN1 NM_000244.3(MEN1):c.*392G>ASNV Uncertain significance 305304 rs886048475 11:64571414-64571414 11:64803942-64803942
40 MEN1 NM_000244.3(MEN1):c.956G>A (p.Arg319Gln)SNV Uncertain significance 485711 rs771645621 11:64573812-64573812 11:64806340-64806340
41 MEN1 NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg)SNV Uncertain significance 878550 11:64572225-64572225 11:64804753-64804753
42 MEN1 NM_001370259.2(MEN1):c.965T>C (p.Met322Thr)SNV Uncertain significance 880344 11:64573788-64573788 11:64806316-64806316
43 MEN1 NM_001370259.2(MEN1):c.849G>T (p.Leu283=)SNV Uncertain significance 877570 11:64574546-64574546 11:64807074-64807074
44 MEN1 NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser)SNV Uncertain significance 879189 11:64577308-64577308 11:64809836-64809836
45 MEN1 NM_001370259.2(MEN1):c.*693T>CSNV Uncertain significance 877477 11:64571113-64571113 11:64803641-64803641
46 MEN1 NM_001370259.2(MEN1):c.*400G>ASNV Uncertain significance 878507 11:64571406-64571406 11:64803934-64803934
47 MEN1 NM_001370259.2(MEN1):c.*341C>GSNV Uncertain significance 878508 11:64571465-64571465 11:64803993-64803993
48 MEN1 NM_001370259.2(MEN1):c.*245C>TSNV Uncertain significance 879089 11:64571561-64571561 11:64804089-64804089
49 MEN1 NM_000244.3(MEN1):c.*300_*302CTC[2]short repeat Likely benign 305306 rs143341556 11:64571498-64571500 11:64804026-64804028
50 MEN1 NM_000244.3(MEN1):c.*794G>ASNV Benign/Likely benign 305295 rs117705251 11:64571012-64571012 11:64803540-64803540

Expression for Hyperparathyroidism

Search GEO for disease gene expression data for Hyperparathyroidism.

Pathways for Hyperparathyroidism

GO Terms for Hyperparathyroidism

Cellular components related to Hyperparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.17 VDR PTH MEN1 GCM2 FGF23 CASR

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 TNFRSF11B RET PTH CDKN1B BGLAP
2 negative regulation of cell proliferation GO:0008285 9.97 VDR PTHLH MEN1 CYP27B1 CDKN1B CDC73
3 cell-cell signaling GO:0007267 9.92 PTHLH PTH PHEX CALCA
4 ossification GO:0001503 9.81 CASR BGLAP ACP5
5 negative regulation of epithelial cell proliferation GO:0050680 9.78 MEN1 CDKN1B CDC73
6 response to estrogen GO:0043627 9.73 TNFRSF11B EPO CYP27B1 BGLAP
7 cellular calcium ion homeostasis GO:0006874 9.72 VDR PTH GCM2 CASR CALCA
8 calcium ion homeostasis GO:0055074 9.7 TRPV6 PTH CYP27B1
9 decidualization GO:0046697 9.69 VDR MEN1 CYP27B1
10 bone mineralization GO:0030282 9.67 PTHLH PHEX CYP27B1 BGLAP
11 regulation of bone mineralization GO:0030500 9.65 FGF23 CYP27B1 BGLAP
12 response to inorganic substance GO:0010035 9.64 TNFRSF11B BGLAP
13 negative regulation of bone resorption GO:0045779 9.63 TNFRSF11B CALCA
14 osteoblast development GO:0002076 9.63 PTHLH MEN1 BGLAP
15 skeletal system development GO:0001501 9.63 VDR TNFRSF11B PTHLH PTH PHEX BGLAP
16 response to magnesium ion GO:0032026 9.62 TNFRSF11B FGF23
17 cellular response to parathyroid hormone stimulus GO:0071374 9.61 PHEX FGF23
18 response to fibroblast growth factor GO:0071774 9.6 PTH CASR
19 cellular phosphate ion homeostasis GO:0030643 9.59 GCM2 FGF23
20 phosphate ion homeostasis GO:0055062 9.58 PTH FGF23
21 negative regulation of calcium ion transport into cytosol GO:0010523 9.58 EPO CALCA
22 vitamin D metabolic process GO:0042359 9.58 VDR FGF23 CYP27B1
23 response to sodium phosphate GO:1904383 9.56 PHEX FGF23
24 cAMP metabolic process GO:0046058 9.55 PTHLH PTH
25 vitamin D catabolic process GO:0042369 9.54 FGF23 CYP27B1
26 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 VDR FGF23 CYP27B1
27 response to vitamin D GO:0033280 9.26 PTH PHEX CYP27B1 BGLAP
28 cellular response to vitamin D GO:0071305 8.92 PHEX FGF23 CASR BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.46 VDR TNFRSF11B RET CASR
2 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH
3 hormone activity GO:0005179 8.92 PTHLH PTH EPO CALCA

Sources for Hyperparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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