MCID: HYP069
MIFTS: 59

Hyperparathyroidism

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

Aliases & Classifications for Hyperparathyroidism

MalaCards integrated aliases for Hyperparathyroidism:

Name: Hyperparathyroidism 12 76 29 55 6 44 15 40 73

Classifications:



External Ids:

Disease Ontology 12 DOID:13543
ICD10 33 E21.3
ICD9CM 35 252.0 252.00
MeSH 44 D006961
NCIt 50 C48259
SNOMED-CT 68 66999008
UMLS 73 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 2 with jaw tumors and hyperparathyroidism 1. 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 Aredia and Sensipar have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are cardiovascular system and cellular

Wikipedia : 76 Hyperparathyroidism is an increased parathyroid hormone (PTH) levels in the blood. This occurs either... more...

Related Diseases for Hyperparathyroidism

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism

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

(show top 50) (show all 391)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 34.5 CASR CDC73 MEN1 RET
2 hyperparathyroidism 1 34.4 CDC73 MEN1
3 hyperparathyroidism, neonatal severe 34.3 CASR PRKAR1A
4 familial isolated hyperparathyroidism 34.0 CASR CDC73 GCM2 MEN1 PTH RET
5 osteitis fibrosa 33.1 BGLAP CALCA CASR PTH
6 primary hyperparathyroidism 32.8 BGLAP CALCA CASR CDC73 CDKN1B CHGA
7 secondary hyperparathyroidism of renal origin 32.5 ACP5 BGLAP CALCA CASR CYP27B1 EPO
8 multiple endocrine neoplasia, type iia 32.4 CALCA CDC73 MEN1 PTH RET
9 parathyroid carcinoma 32.4 CALCA CASR CDC73 MEN1 PTH RET
10 nephrocalcinosis 32.2 CASR PHEX PTH
11 pseudohypoparathyroidism, type ib 32.2 BGLAP PTH PTHLH
12 multiple endocrine neoplasia, type i 32.0 CASR CDC73 CDKN1B CHGA MEN1 PRKAR1A
13 rickets 31.6 BGLAP CYP27B1 FGF23 PHEX PTH VDR
14 parathyroid adenoma 31.6 BGLAP CALCA CASR CDC73 CHGA GCM2
15 vitamin d-dependent rickets, type 2a 31.4 CYP27B1 PHEX VDR
16 adenoma 31.4 CASR CDC73 MEN1 RET
17 familial hypocalciuric hypercalcemia 31.0 CASR CDC73 PTH
18 kidney disease 30.7 CASR EPO FGF23 PTH TNFRSF11B VDR
19 multiple endocrine neoplasia 30.6 CALCA CDKN1B CHGA MEN1 PRKAR1A RET
20 nephrolithiasis 30.6 CASR FGF23 PTH VDR
21 calciphylaxis 30.5 CASR EPO FGF23 PTH VDR
22 uremia 30.4 CASR EPO PTH TNFRSF11B VDR
23 pseudohypoparathyroidism 30.4 BGLAP PTH PTHLH
24 fibrous dysplasia 30.3 BGLAP CALCA FGF23
25 idiopathic hypercalciuria 30.3 BGLAP CASR PRKAR1A VDR
26 renal osteodystrophy 30.3 BGLAP CALCA CASR FGF23 PTH TNFRSF11B
27 pheochromocytoma 30.2 CALCA CHGA MEN1 RET
28 hypophosphatemic rickets, x-linked recessive 30.2 CYP27B1 FGF23 PHEX VDR
29 osteomalacia 30.2 BGLAP CALCA CASR FGF23 PHEX PTH
30 chronic kidney failure 30.2 BGLAP CALCA CASR CYP27B1 EPO FGF23
31 thyroid cancer 30.2 BGLAP CALCA CDKN1B CHGA RET
32 parathyroid gland disease 30.2 BGLAP CALCA CASR CDC73 FGF23 GCM2
33 giant cell tumor 30.1 BGLAP CALCA TNFRSF11B
34 hypoparathyroidism 30.1 BGLAP CASR FGF23 GCM2 PTH PTHLH
35 clear cell adenoma 30.1 MEN1 PTH PTHLH
36 hyperphosphatemia 30.1 CASR FGF23 GCM2 PHEX PTH VDR
37 hypophosphatemia 30.1 BGLAP FGF23 PHEX PTH
38 calcinosis 30.1 CALCA FGF23 PHEX
39 differentiated thyroid carcinoma 29.9 BGLAP RET TNFRSF11B
40 paget's disease of bone 29.9 ACP5 BGLAP CALCA PTH TNFRSF11B
41 follicular adenoma 29.8 CALCA CDKN1B RET
42 parathyroid transitional clear cell adenoma 29.8 MEN1 PTH
43 chief cell adenoma 29.8 GCM2 PTH
44 oncogenic osteomalacia 29.8 FGF23 PHEX PTH PTHLH
45 acute thyroiditis 29.8 CALCA CHGA
46 hypophosphatemic rickets, x-linked dominant 29.7 FGF23 PHEX PTH
47 invasive malignant thymoma 29.7 PTH PTHLH
48 bone resorption disease 29.6 ACP5 BGLAP CALCA PTH TNFRSF11B VDR
49 bone disease 29.5 ACP5 BGLAP CALCA CASR FGF23 PTH
50 bone inflammation disease 29.5 ACP5 BGLAP TNFRSF11B

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


Acute Cystitis Chronic Kidney Failure
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:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 CDC73 CDKN1B CHGA CYP27B1 EPO FGF23
2 cellular MP:0005384 10.42 CASR CDC73 CDKN1B CYP27B1 EPO GCM2
3 endocrine/exocrine gland MP:0005379 10.39 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
4 homeostasis/metabolism MP:0005376 10.39 CASR CDC73 CDKN1B CHGA CYP27B1 EPO
5 growth/size/body region MP:0005378 10.38 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
6 hematopoietic system MP:0005397 10.34 CASR CDC73 CDKN1B CYP27B1 EPO FGF23
7 immune system MP:0005387 10.34 CASR CDC73 CDKN1B CYP27B1 EPO FGF23
8 craniofacial MP:0005382 10.31 CDC73 CDKN1B CYP27B1 GCM2 MEN1 PHEX
9 mortality/aging MP:0010768 10.28 CASR CDC73 CDKN1B CHGA EPO FGF23
10 digestive/alimentary MP:0005381 10.26 CASR CDC73 CDKN1B FGF23 MEN1 PHEX
11 integument MP:0010771 10.13 CASR CDC73 CDKN1B CYP27B1 EPO FGF23
12 limbs/digits/tail MP:0005371 10.11 CYP27B1 EPO FGF23 PHEX PTH PTHLH
13 adipose tissue MP:0005375 10.07 CDC73 CDKN1B CYP27B1 PHEX PRKAR1A PTHLH
14 muscle MP:0005369 10.07 CASR CDC73 CDKN1B CHGA CYP27B1 EPO
15 renal/urinary system MP:0005367 10 CASR CDC73 CDKN1B CHGA CYP27B1 FGF23
16 liver/biliary system MP:0005370 9.98 CDC73 CDKN1B EPO MEN1 PHEX PRKAR1A
17 reproductive system MP:0005389 9.85 CDC73 CDKN1B CHGA CYP27B1 FGF23 MEN1
18 neoplasm MP:0002006 9.8 CDC73 CDKN1B MEN1 PRKAR1A PTHLH RET
19 respiratory system MP:0005388 9.5 CDC73 CDKN1B EPO FGF23 PRKAR1A PTHLH
20 skeleton MP:0005390 9.44 CASR CDC73 CDKN1B CYP27B1 EPO FGF23

Drugs & Therapeutics for Hyperparathyroidism

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
2
Sensipar 18 CINACALCET HYDROCHLORIDE Amgen March 2004
3
Zometa 18 49 ZOLEDRONIC ACID Novartis August 2001/ February 2002

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

(show top 50) (show all 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
2 tannic acid Approved Phase 4,Phase 3,Phase 2,Not Applicable
3
Sevelamer Approved Phase 4,Phase 3,Phase 2,Not Applicable 52757-95-6
4
Calcium acetate Approved, Investigational Phase 4,Phase 3,Not Applicable 62-54-4
5
Denosumab Approved Phase 4,Phase 3,Phase 1 615258-40-7
6
Alendronate Approved Phase 4,Phase 2,Not Applicable 66376-36-1, 121268-17-5 2088
7
Darbepoetin alfa Approved, Investigational Phase 4 11096-26-7, 209810-58-2
8
Ethanol Approved Phase 4 64-17-5 702
9
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
10
Racepinephrine Approved Phase 4 329-65-7 838
11
Angiotensin II Approved, Investigational Phase 4,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
12
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
13
Calcium Carbonate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 471-34-1
14
Zoledronic acid Approved Phase 4,Phase 1 118072-93-8 68740
15
Pamidronate Approved Phase 4 40391-99-9 4674
16
Phytonadione Approved, Investigational Phase 4 84-80-0 4812 5284607
17
Iron Approved Phase 4 7439-89-6 23925
18
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 1406-16-2
20
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-14-6 5280793
21
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 32222-06-3 5280453 134070
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
23
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 67-97-0 5280795 6221
24
Alfacalcidol Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 41294-56-8 5282181
25
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
27
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
28 Calciferol Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
31 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Vitamin D2 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Cinacalcet Hydrochloride Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Calcimimetic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
38 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
39 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
41 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 1 alpha-hydroxyergocalciferol Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Retinol palmitate Phase 4
45 retinol Phase 4
46 Hydroxycholecalciferols Phase 4,Phase 3,Phase 2,Not Applicable
47 Calcifediol Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19356-17-3
48 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 357)
# Name Status NCT ID Phase Drugs
1 Cinacalcet in Management of Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4 Combination Cinacalcet with Vitamin D analogue
2 Intravenous Paricalcitol in Chronic Hemodialysis Patients Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
3 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
4 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4 Calcitriol;Placebo
5 Optimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
6 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
7 Initial Dosing of Paricalcitol in Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
8 Compare the Efficacy of Cinacalcet vs Traditional Vitamin D for Secondary Hyperparathyroidism (SHPT) Among Subjects Undergoing Hemodialysis Completed NCT01181531 Phase 4 Traditional Vitamin D Therapy;Cinacalcet
9 Efficacy of Cinacalcet in the Control of Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
10 Cincalcet and Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
11 Efficacy and Safety of 6 Months Treatment With Paricalcitol Injection or Oral in Patients With Secondary Hyperparathyroidism on Dialysis Completed NCT00537979 Phase 4 Paricalcitol injection;Paricalcitol capsules
12 Parathyroidectomy vs Cinacalcet in the Treatment of Secondary Hyperparathyroidism Post Renal Transplantation Completed NCT01178450 Phase 4 Cinacalcet
13 Evaluation of a Cincalcet Suppression Test Completed NCT01103206 Phase 4 cinacalcet;cinacalcet dose 1;cinacalcet dose 2
14 A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer Completed NCT00037518 Phase 4 AMG 073
15 Systematic Treatment After Successful Surgical Treatment for Primary Hyperparathyroidism With Strontium Ranelate Completed NCT01222026 Phase 4 Strontium Ranelate + Ca/Vitamin-D;Placebo
16 ACHIEVE: Optimizing the Treatment of Secondary Hyperparathyroidism Completed NCT00135304 Phase 4 Sensipar®;Vitamin D
17 Efficacy and Safety of Alfacalcidol Compared to Calcitriol for Treatment of Secondary Hyperparathyroidism Completed NCT01115543 Phase 4 alfacalcidol and calcitriol
18 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Kidney Transplantation. Completed NCT01939977 Phase 4 Paricalcitol;Calcifediol
19 Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT) Completed NCT00823303 Phase 4 Paricalcitol;Calcitriol
20 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
21 START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4 Sensipar
22 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Completed NCT00288873 Phase 4 Ergocalciferol;Cholecalciferol
23 Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism Completed NCT00123461 Phase 4 Hectorol (doxercalciferol capsules), 0.5mcg
24 Treatment Adhesion in Dialysis Patients Treated With Cinacalcet Completed NCT01573520 Phase 4
25 Effectiveness and Safety of IV Zemplar in Patients on Hemodialysis and With Secondary Hyperparathyroidism Using iPTH/100 as Initial Dose Completed NCT00891813 Phase 4 Zemplar (paricalcitol)
26 Cinacalcet stUdy for Peritoneal Dialysis Patients In Double Arm on the Lowing Effect OF iPTH Level Completed NCT01101113 Phase 4 cinacalcet;control
27 A Phase 4 Study to Determine Dosing of Hectorol® Capsules When Converting From Zemplar® Injection Completed NCT00463021 Phase 4 Hectorol (doxercalciferol capsules);Zemplar (paricalcitol injection)
28 20070360 Incident Dialysis Completed NCT00803712 Phase 4 Cinacalcet;Vitamin D
29 A Phase 4, Conversion Study of Hectorol® Injection to Hectorol® Capsules in Stage 5 CKD Patients on Dialysis Completed NCT00418600 Phase 4 Hectorol® (doxercalciferol capsules);doxercalciferol capsules, Hectorol®;doxercalciferol capsules, Hectorol® capsules
30 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4 Paricalcitol;Ergocalciferol
31 The Study of Efficacy and Safety of REGPARA Drug in Dialysis Patients Have High Blood Levels of Parathyroid Completed NCT02056730 Phase 4 calcium sensing receptor agonist
32 Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium Completed NCT00073710 Phase 4 Zemplar;Calcijex
33 Evaluation of the Effectiveness of Paricalcitol Versus Cinacalcet With Low-Dose Vitamin D Completed NCT00977080 Phase 4 Paricalcitol;Cinacalcet
34 A Phase 4 Pharmacokinetic Study of Hectorol Injection and Zemplar Injection in CKD Subjects on Hemodialysis Completed NCT00454350 Phase 4 Hectorol (doxercalciferol injection);Zemplar (Paricalcitol injection)
35 How Vitamin D Analogues Affect Endothelial Cells in Patients on Dialysis Completed NCT00528788 Phase 4 doxercalciferol
36 A Study of Cinacalcet to Improve Achievement of National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI) Targets in Patients With End Stage Renal Disease (ESRD) Completed NCT00431496 Phase 4 Cinacalcet
37 A Pilot Clinical Study Evaluating the Effect of Parathyroid Hormone (PTH) Lowering On Erythropoietin Consumption in Calcitriol-Resistant Patients Completed NCT01506947 Phase 4 Paricalcitol;Darbepoetin alfa
38 Paricalcitol Effect on Anemia in CKD Completed NCT01768351 Phase 4 Paricalcitol;Calcitriol
39 Trial to Optimize Mineral Outcomes in Dialysis Patients Completed NCT01100723 Phase 4
40 Safety and Effectiveness of Zemplar Injection in Decreasing iPTH Levels in Pediatric ESRD Subjects on Hemodialysis Completed NCT00053547 Phase 4 paricalcitol injection
41 A Study of Zemplar® Injection and Hectorol® Injection on Intestinal Absorption of Calcium in Chronic Kidney Disease Completed NCT00257920 Phase 4 Zemplar® injection;Hectorol® injection
42 Cholecalciferol Supplementation Effect on Parathyroid Hormone in Hemodialysis Patients Completed NCT03648528 Phase 4 cholecalciferol;placebo
43 Vitamin D and Coronary Calcification Study Completed NCT00752102 Phase 4 Calcitriol (Rocaltrol®);Paricalcitol
44 A Research Study for Patients With End-Stage Renal Disease (ESRD) Completed NCT00110890 Phase 4 cinacalcet
45 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
46 CARE-2 (Calcium Acetate [PhosLo®]/Sevelamer[Renagel®] Evaluation Study 2) for Heart Calcification in Dialysis Patients Completed NCT00211939 Phase 4 calcium acetate;sevelamer;atorvastatin
47 Physiologic Interactions Between the Adrenal- and the Parathyroid Glands Completed NCT02572960 Phase 4 Valsartan;Placebo Valsartan
48 Study of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease Completed NCT00395382 Phase 4 Alendronate;Placebo
49 Efficacy of Vitamin D2 to Treat Chronic Kidney Disease Mineral and Bone Disorder Completed NCT01633853 Phase 4 Vitamin D2;1,25(OH)2 Vit D3
50 Effect of Phosphate Binders on FGF-23 With Concurrent Calcitriol Completed NCT01748396 Phase 4 Calcitriol;Calcium Carbonate

Search NIH Clinical Center for Hyperparathyroidism

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Kidney, Bone, Thyroid, Testes, Liver, Heart, Breast

Publications for Hyperparathyroidism

Articles related to Hyperparathyroidism:

(show top 50) (show all 3814)
# Title Authors Year
1
Analysis of the role of thyroidectomy and thymectomy in the surgical treatment of secondary hyperparathyroidism. ( 30472135 )
2019
2
Molecular genetic insights into sporadic primary hyperparathyroidism. ( 30475215 )
2019
3
Cinacalcet as rescue therapy for refractory hyperparathyroidism in young children with advanced chronic kidney disease. ( 30203374 )
2019
4
First Case of Plasma Cell Myeloma With Brown Tumor Features Unrelated to Hyperparathyroidism. ( 30215237 )
2019
5
Calcitriol accelerates vascular calcification irrespective of vitamin K status in a rat model of CKD with hyperphosphatemia and secondary hyperparathyroidism. ( 29903718 )
2018
6
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. ( 29108698 )
2018
7
Cinacalcet versus Placebo for secondary hyperparathyroidism in chronic kidney disease patients: a meta-analysis of randomized controlled trials and trial sequential analysis. ( 29449603 )
2018
8
Treatment Based on Cinacalcet Reduces Oxidative Stress in Hemodialysis Patients with Secondary Hyperparathyroidism. ( 29879701 )
2018
9
Outcomes in patients with renal hyperparathyroidism requiring cinacalcet pre-operatively followed by parathyroidectomy. ( 29929906 )
2018
10
Calciphylaxis as cutaneous marker of hyperparathyroidism and successful outcome with parathyroidectomy followed by hyperbaric oxygen therapy. ( 29451194 )
2018
11
Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. ( 29436275 )
2018
12
Uremic leontiasis ossea, a rare presentation of severe renal osteodystrophy secondary to hyperparathyroidism. ( 29037869 )
2018
13
Old and new calcimimetics for treatment of secondary hyperparathyroidism: impact on biochemical and relevant clinical outcomes. ( 29423207 )
2018
14
Selective parathyroid venous sampling in primary hyperparathyroidism: A systematic review and meta-analysis. ( 29756350 )
2018
15
An unusual etiology of hyperparathyroidism: robotic-assisted resection of a giant functional intrathymic parathyroid cyst. ( 29963377 )
2018
16
Influence of Parathyroidectomy on Bone Metabolism and Bone Pain in Patients with Secondary Hyperparathyroidism. ( 29393259 )
2018
17
Re: Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System. ( 29357552 )
2018
18
REDUCTION OF ARRHYTHMIAS IN PRIMARY HYPERPARATHYROIDISM, BY PARATHYROIDECTOMY, EVALUATED WITH 24 HOUR ECG MONITORING. ( 29875287 )
2018
19
Normocalcaemic primary hyperparathyroidism: a pragmatic approach. ( 29437827 )
2018
20
Long-Term Skeletal Outcomes of Primary Hyperparathyroidism Patients After Treatment with Parathyroidectomy: A Systematic Review and Meta-Analysis. ( 29381879 )
2018
21
The relationship between semiquantitative parameters derived from technetium-99m metoxyisobutylisonitrile dual-phase parathyroid single-photon emission computed tomography images and disease severity in primary hyperparathyroidism. ( 29360693 )
2018
22
Role of etelcalcetide in the management of secondary hyperparathyroidism in hemodialysis patients: a review on current data and place in therapy. ( 29910605 )
2018
23
Protective Effect of Denosumab on Bone in Older Women with Primary Hyperparathyroidism. ( 29364518 )
2018
24
Dual energy computed tomography should be the first line preoperative localization imaging test for primary hyperparathyroidism patients. ( 29370881 )
2018
25
Predictors of renal function and calcifications in primary hyperparathyroidism: A nested case-control study. ( 29955845 )
2018
26
Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )
2018
27
<sup>18</sup>F-Fluorocholine-Positron Emission Tomography/Computerised Tomography is Useful in Localising <sup>99m</sup>Tc-Sesta-methoxyisobutylisonitrile-Negative Parathyroid Cyst Causing Normocalcemic Primary Hyperparathyroidism. ( 29922354 )
2018
28
Classic Primary Hyperparathyroidism Versus Normocalcemic and Normohormonal Variants: Do They Really Differ? ( 29392434 )
2018
29
Risk factors of developing the hungry bone syndrome after parathyroidectomy for primary hyperparathyroidism. ( 29928157 )
2018
30
Familial isolated hyperparathyroidism due to HRPT2 mutation. ( 29941370 )
2018
31
Mito-micea88 and mitochondrial DNA mutator mice as models of human osteoporosis caused not by aging but by hyperparathyroidism. ( 29973435 )
2018
32
Trabecular Bone Score in Obese and Non-obese Subjects with Primary Hyperparathyroidism Before and After Parathyroidectomy. ( 29373705 )
2018
33
Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome. ( 29739732 )
2018
34
Clinical value of 11C-methionine positron emission tomography in persistent primary hyperparathyroidism-A case report with a mediastinal parathyroid adenoma. ( 29573598 )
2018
35
Preterm Parturient with Polyhydramnios and Pancreatitis: Primary Presentation of Hyperparathyroidism. ( 29607233 )
2018
36
Morbidity in parathyroid surgery for renal disease is under reported: a comparison of outcomes with primary hyperparathyroidism. ( 29962299 )
2018
37
Initial surgical results of 500 Parathyroidectomies for Hyperparathyroidism related to chronic kidney disease - mineral and bone disorder. ( 29944161 )
2018
38
Cholecalciferol Additively Reduces Serum Parathyroid Hormone Levels in Severe Secondary Hyperparathyroidism Treated with Calcitriol and Cinacalcet among Hemodialysis Patients. ( 29439405 )
2018
39
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
40
Periosteal chondroma of the cuboid with secondary aneurysmal bone cyst in a setting of secondary hyperparathyroidism. ( 29413778 )
2018
41
Effect of parathyroidectomy on quality of life and non-specific symptoms in normocalcaemic primary hyperparathyroidism. ( 29405278 )
2018
42
Case report: Electron microscopic evaluation of bone from a patient treated with cinacalcet hydrochloride, maxacalcitol, and alfacalcidol for hyperparathyroid bone disease with secondary hyperparathyroidism. ( 29492624 )
2018
43
Managing hyperparathyroidism in hemodialysis: role of etelcalcetide. ( 29440923 )
2018
44
Gitelman syndrome and primary hyperparathyroidism: a rare association. ( 29871958 )
2018
45
Rare Undiagnosed Primary Amyloidosis Unmasked During Surgical Treatment of Primary Hyperparathyroidism: A Case Report. ( 29359203 )
2018
46
Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. ( 29115694 )
2018
47
A rare cause of primary hyperparathyroidism: Parathyroid lipoadenoma. ( 29778311 )
2018
48
Changes in bone mineral density after total parathyroidectomy without autotransplantation in the end-stage renal disease patients with secondary hyperparathyroidism. ( 29907149 )
2018
49
Highly specific preoperative selection of solitary parathyroid adenoma cases in primary hyperparathyroidism by quantitative image analysis of the early-phase Technetium-99m sestamibi scan. ( 29877611 )
2018
50
Influence of concurrent chronic kidney disease on intraoperative parathyroid hormone monitoring during parathyroidectomy for primary hyperparathyroidism. ( 29128188 )
2018

Variations for Hyperparathyroidism

ClinVar genetic disease variations for Hyperparathyroidism:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEN1 NM_130799.2(MEN1): c.1296G> A (p.Leu432=) single nucleotide variant Conflicting interpretations of pathogenicity rs138770431 GRCh37 Chromosome 11, 64572560: 64572560
2 MEN1 NM_130799.2(MEN1): c.1296G> A (p.Leu432=) single nucleotide variant Conflicting interpretations of pathogenicity rs138770431 GRCh38 Chromosome 11, 64805088: 64805088
3 MEN1 NM_130799.2(MEN1): c.774G> C (p.Gln258His) single nucleotide variant Uncertain significance rs374659656 GRCh37 Chromosome 11, 64575033: 64575033
4 MEN1 NM_130799.2(MEN1): c.774G> C (p.Gln258His) single nucleotide variant Uncertain significance rs374659656 GRCh38 Chromosome 11, 64807561: 64807561
5 MEN1 NM_000244.3(MEN1): c.1269C> T (p.Asp423=) single nucleotide variant Benign/Likely benign rs2071313 GRCh37 Chromosome 11, 64572602: 64572602
6 MEN1 NM_000244.3(MEN1): c.1269C> T (p.Asp423=) single nucleotide variant Benign/Likely benign rs2071313 GRCh38 Chromosome 11, 64805130: 64805130
7 MEN1 NM_130799.2(MEN1): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs61736636 GRCh37 Chromosome 11, 64577147: 64577147
8 MEN1 NM_130799.2(MEN1): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs61736636 GRCh38 Chromosome 11, 64809675: 64809675
9 MEN1 NM_000244.3(MEN1): c.578C> T (p.Pro193Leu) single nucleotide variant Uncertain significance rs199706698 GRCh37 Chromosome 11, 64575454: 64575454
10 MEN1 NM_000244.3(MEN1): c.578C> T (p.Pro193Leu) single nucleotide variant Uncertain significance rs199706698 GRCh38 Chromosome 11, 64807982: 64807982
11 MEN1 NM_000244.3(MEN1): c.526C> T (p.Arg176Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143329068 GRCh37 Chromosome 11, 64575506: 64575506
12 MEN1 NM_000244.3(MEN1): c.526C> T (p.Arg176Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143329068 GRCh38 Chromosome 11, 64808034: 64808034
13 MEN1 NM_130799.2(MEN1): c.1535C> T (p.Ser512Leu) single nucleotide variant Uncertain significance rs141679530 GRCh38 Chromosome 11, 64804632: 64804632
14 MEN1 NM_130799.2(MEN1): c.1535C> T (p.Ser512Leu) single nucleotide variant Uncertain significance rs141679530 GRCh37 Chromosome 11, 64572104: 64572104
15 MEN1 NM_130799.2(MEN1): c.1764G> A (p.Lys588=) single nucleotide variant Conflicting interpretations of pathogenicity rs373669288 GRCh38 Chromosome 11, 64804403: 64804403
16 MEN1 NM_130799.2(MEN1): c.1764G> A (p.Lys588=) single nucleotide variant Conflicting interpretations of pathogenicity rs373669288 GRCh37 Chromosome 11, 64571875: 64571875
17 MEN1 NM_130799.2(MEN1): c.*557C> A single nucleotide variant Uncertain significance rs886048471 GRCh38 Chromosome 11, 64803777: 64803777
18 MEN1 NM_130799.2(MEN1): c.*557C> A single nucleotide variant Uncertain significance rs886048471 GRCh37 Chromosome 11, 64571249: 64571249
19 MEN1 NM_130799.2(MEN1): c.*529A> G single nucleotide variant Uncertain significance rs886048472 GRCh38 Chromosome 11, 64803805: 64803805
20 MEN1 NM_130799.2(MEN1): c.*529A> G single nucleotide variant Uncertain significance rs886048472 GRCh37 Chromosome 11, 64571277: 64571277
21 MEN1 NM_130799.2(MEN1): c.*527G> T single nucleotide variant Uncertain significance rs886048473 GRCh37 Chromosome 11, 64571279: 64571279
22 MEN1 NM_130799.2(MEN1): c.*527G> T single nucleotide variant Uncertain significance rs886048473 GRCh38 Chromosome 11, 64803807: 64803807
23 MEN1 NM_130799.2(MEN1): c.*392G> A single nucleotide variant Uncertain significance rs886048475 GRCh37 Chromosome 11, 64571414: 64571414
24 MEN1 NM_130799.2(MEN1): c.*392G> A single nucleotide variant Uncertain significance rs886048475 GRCh38 Chromosome 11, 64803942: 64803942
25 MEN1 NM_130799.2(MEN1): c.*302C> T single nucleotide variant Likely benign rs1804849 GRCh37 Chromosome 11, 64571504: 64571504
26 MEN1 NM_130799.2(MEN1): c.*302C> T single nucleotide variant Likely benign rs1804849 GRCh38 Chromosome 11, 64804032: 64804032
27 MEN1 NM_130799.2(MEN1): c.*272T> C single nucleotide variant Uncertain significance rs563783609 GRCh37 Chromosome 11, 64571534: 64571534
28 MEN1 NM_130799.2(MEN1): c.*272T> C single nucleotide variant Uncertain significance rs563783609 GRCh38 Chromosome 11, 64804062: 64804062
29 MEN1 NM_130799.2(MEN1): c.*185C> T single nucleotide variant Likely benign rs111895237 GRCh37 Chromosome 11, 64571621: 64571621
30 MEN1 NM_130799.2(MEN1): c.*185C> T single nucleotide variant Likely benign rs111895237 GRCh38 Chromosome 11, 64804149: 64804149
31 MEN1 NM_130799.2(MEN1): c.*89G> A single nucleotide variant Uncertain significance rs886048478 GRCh37 Chromosome 11, 64571717: 64571717
32 MEN1 NM_130799.2(MEN1): c.*89G> A single nucleotide variant Uncertain significance rs886048478 GRCh38 Chromosome 11, 64804245: 64804245
33 MEN1 NM_130799.2(MEN1): c.-23-14G> C single nucleotide variant Uncertain significance rs886048479 GRCh37 Chromosome 11, 64577618: 64577618
34 MEN1 NM_130799.2(MEN1): c.-23-14G> C single nucleotide variant Uncertain significance rs886048479 GRCh38 Chromosome 11, 64810146: 64810146
35 MEN1 NM_130799.2(MEN1): c.*560G> T single nucleotide variant Uncertain significance rs886048470 GRCh38 Chromosome 11, 64803774: 64803774
36 MEN1 NM_130799.2(MEN1): c.*560G> T single nucleotide variant Uncertain significance rs886048470 GRCh37 Chromosome 11, 64571246: 64571246
37 MEN1 NM_130799.2(MEN1): c.*470A> G single nucleotide variant Uncertain significance rs778272737 GRCh37 Chromosome 11, 64571336: 64571336
38 MEN1 NM_130799.2(MEN1): c.*470A> G single nucleotide variant Uncertain significance rs778272737 GRCh38 Chromosome 11, 64803864: 64803864
39 MEN1 NM_130799.2(MEN1): c.-35A> T single nucleotide variant Benign/Likely benign rs679946 GRCh37 Chromosome 11, 64578113: 64578113
40 MEN1 NM_130799.2(MEN1): c.-35A> T single nucleotide variant Benign/Likely benign rs679946 GRCh38 Chromosome 11, 64810641: 64810641
41 MEN1 NM_130799.2(MEN1): c.*794G> A single nucleotide variant Uncertain significance rs117705251 GRCh38 Chromosome 11, 64803540: 64803540
42 MEN1 NM_130799.2(MEN1): c.*794G> A single nucleotide variant Uncertain significance rs117705251 GRCh37 Chromosome 11, 64571012: 64571012
43 MEN1 NM_130799.2(MEN1): c.*570C> A single nucleotide variant Uncertain significance rs886048469 GRCh38 Chromosome 11, 64803764: 64803764
44 MEN1 NM_130799.2(MEN1): c.*570C> A single nucleotide variant Uncertain significance rs886048469 GRCh37 Chromosome 11, 64571236: 64571236
45 MEN1 NM_130799.2(MEN1): c.*533C> T single nucleotide variant Uncertain significance rs879327862 GRCh38 Chromosome 11, 64803801: 64803801
46 MEN1 NM_130799.2(MEN1): c.*533C> T single nucleotide variant Uncertain significance rs879327862 GRCh37 Chromosome 11, 64571273: 64571273
47 MEN1 NM_130799.2(MEN1): c.*307T> G single nucleotide variant Likely benign rs1804848 GRCh37 Chromosome 11, 64571499: 64571499
48 MEN1 NM_130799.2(MEN1): c.*307T> G single nucleotide variant Likely benign rs1804848 GRCh38 Chromosome 11, 64804027: 64804027
49 MEN1 NM_130799.2(MEN1): c.327A> C (p.Glu109Asp) single nucleotide variant Uncertain significance rs773976527 GRCh37 Chromosome 11, 64577255: 64577255
50 MEN1 NM_130799.2(MEN1): c.327A> C (p.Glu109Asp) single nucleotide variant Uncertain significance rs773976527 GRCh38 Chromosome 11, 64809783: 64809783

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 extracellular space GO:0005615 9.23 BGLAP CALCA CHGA EPO FGF23 PTH

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 BGLAP CDKN1B PTH RET TNFRSF11B
2 negative regulation of cell proliferation GO:0008285 9.97 CDC73 CDKN1B CYP27B1 MEN1 PTHLH VDR
3 cell-cell signaling GO:0007267 9.92 CALCA PHEX PTH PTHLH
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.83 CALCA PTH PTHLH
5 ossification GO:0001503 9.82 ACP5 BGLAP CASR
6 negative regulation of epithelial cell proliferation GO:0050680 9.77 CDC73 CDKN1B MEN1
7 cellular calcium ion homeostasis GO:0006874 9.77 CALCA CASR GCM2 PTH VDR
8 response to estrogen GO:0043627 9.73 BGLAP CYP27B1 EPO TNFRSF11B
9 decidualization GO:0046697 9.69 CYP27B1 MEN1 VDR
10 negative regulation of chondrocyte differentiation GO:0032331 9.65 PTH PTHLH
11 positive regulation of keratinocyte differentiation GO:0045618 9.65 CYP27B1 VDR
12 regulation of bone mineralization GO:0030500 9.65 BGLAP CYP27B1 FGF23
13 negative regulation of bone resorption GO:0045779 9.64 CALCA TNFRSF11B
14 response to inorganic substance GO:0010035 9.63 BGLAP TNFRSF11B
15 response to magnesium ion GO:0032026 9.63 FGF23 TNFRSF11B
16 osteoblast development GO:0002076 9.63 BGLAP MEN1 PTHLH
17 skeletal system development GO:0001501 9.63 BGLAP PHEX PTH PTHLH TNFRSF11B VDR
18 negative regulation of hormone secretion GO:0046888 9.62 CHGA FGF23
19 cellular response to parathyroid hormone stimulus GO:0071374 9.61 FGF23 PHEX
20 cellular phosphate ion homeostasis GO:0030643 9.61 FGF23 GCM2
21 phosphate ion homeostasis GO:0055062 9.59 FGF23 PTH
22 response to fibroblast growth factor GO:0071774 9.58 CASR PTH
23 negative regulation of calcium ion transport into cytosol GO:0010523 9.58 CALCA EPO
24 vitamin D metabolic process GO:0042359 9.58 CYP27B1 FGF23 VDR
25 cAMP metabolic process GO:0046058 9.56 PTH PTHLH
26 response to vitamin D GO:0033280 9.56 BGLAP CYP27B1 PHEX PTH
27 response to sodium phosphate GO:1904383 9.55 FGF23 PHEX
28 vitamin D catabolic process GO:0042369 9.54 CYP27B1 FGF23
29 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.5 CYP27B1 FGF23 VDR
30 cellular response to vitamin D GO:0071305 9.26 BGLAP CASR FGF23 PHEX
31 bone mineralization GO:0030282 9.02 BGLAP CYP27B1 PHEX PTH PTHLH
32 regulation of signaling receptor activity GO:0010469 10 CALCA EPO FGF23 PTH PTHLH TNFRSF11B

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 8.96 PTH PTHLH
2 hormone activity GO:0005179 8.92 CALCA EPO PTH PTHLH

Sources for Hyperparathyroidism

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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