Hyperparathyroidism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP069 MIFTS: 63	Hyperparathyroidism Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Bone diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hyperparathyroidism and other disorders of parathyroid gland

Hyperparathyroidism, unspecified

ICD11: ³³

Endocrine, nutritional or metabolic diseases

Endocrine diseases

Disorders of the parathyroids or parathyroid hormone system

Hyperparathyroidism

Hyperparathyroidism, unspecified

Other specified hyperparathyroidism

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

EFO ¹⁶ EFO_0008506

ICD11 ³³ 9633776 9633776/other 9633776/unspecified

UMLS ⁷¹ C0020502

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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...

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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:

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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

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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

Calcium acetate

Approved, Investigational

Phase 4

62-54-4

Sevelamer

Approved

Phase 4

52757-95-6

3085017

Darbepoetin alfa

Approved, Investigational

Phase 4

209810-58-2

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Atorvastatin

Approved

Phase 4

134523-00-5

60823

Strontium ranelate

Approved, Withdrawn

Phase 4

135459-87-9

Zoledronic acid

Approved

Phase 4

118072-93-8

68740

Cinacalcet

Approved

Phase 4

226256-56-0

156419

Denosumab

Approved

Phase 4

615258-40-7

Alfacalcidol

Approved, Nutraceutical

Phase 4

41294-56-8

5282181

Calcitriol

Approved, Nutraceutical

Phase 4

32222-06-3

5280453

Vasodilator Agents

Phase 4

Antimetabolites

Phase 4

Hypolipidemic Agents

Phase 4

Lipid Regulating Agents

Phase 4

Hydroxycholecalciferols

Phase 4

Chelating Agents

Phase 4

Liver Extracts

Phase 4

Anticholesteremic Agents

Phase 4

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 4

Epoetin Alfa

Phase 4

Hematinics

Phase 4

Chrysarobin

Phase 4

Vasoconstrictor Agents

Phase 4

1 alpha-hydroxyergocalciferol

Phase 4

Dihydroxycholecalciferols

Phase 4

Teriparatide

Approved, Investigational

Phase 3

52232-67-4

16133850 155817470

Calcium carbonate

Approved, Investigational

Phase 3

471-34-1

Amiloride

Approved

Phase 2, Phase 3

17440-83-4, 2016-88-8, 2609-46-3

16231

Eplerenone

Approved

Phase 2, Phase 3

107724-20-9

443872

Choline

Approved, Nutraceutical

Phase 3

62-49-7

305

Maxacalcitol

Investigational

Phase 3

103909-75-7

6398761

Dermatologic Agents

Phase 3

Protective Agents

Phase 3

Antihypertensive Agents

Phase 2, Phase 3

diuretics

Phase 2, Phase 3

Sodium Channel Blockers

Phase 2, Phase 3

Diuretics, Potassium Sparing

Phase 2, Phase 3

Mineralocorticoids

Phase 2, Phase 3

Mineralocorticoid Receptor Antagonists

Phase 2, Phase 3

Pharmaceutical Solutions

Phase 3

Nootropic Agents

Phase 3

Gastrointestinal Agents

Phase 3

Technetium Tc 99m Sestamibi

Phase 3

Phytosterol

Phase 3

Methylene blue

Approved, Investigational

Phase 1, Phase 2

61-73-4

6099

Racemethionine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

59-51-8, 63-68-3, 348-67-4

6137

Carbon-11 methionine

Phase 2

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

Sources

Genetic Tests for Hyperparathyroidism

Genetic tests related to Hyperparathyroidism:

#	Genetic test	Affiliating Genes
1	Hyperparathyroidism ²⁸

Sources

Anatomical Context for Hyperparathyroidism

Organs/tissues related to Hyperparathyroidism:

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

Sources

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	Cozzolino M...Mazzaferro S	20180772	2010
2	Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. ⁵³ ⁶²	Guarnieri V...Hendy GN	20164288	2010
3	Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). ⁵³ ⁶²	Turner JJ...Thakker RV	19953642	2010
4	A physiologically based mathematical model of integrated calcium homeostasis and bone remodeling. ⁵³ ⁶²	Peterson MC...Riggs MM	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	Lietman SA...Levine MA	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	Gkaliagkousi E...Douma S	19558618	2009
7	Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. ⁵³ ⁶²	White E...Breitwieser GE	19389809	2009
8	Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. ⁵³ ⁶²	Vierimaa O...Salmela PI	19474519	2009
9	An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. ⁵³ ⁶²	Pal SK...Somlo G	18500673	2009
10	Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. ⁵³ ⁶²	Cole DE...Hendy GN	19179454	2009
11	Analyses of age, gender and other risk factors of erythropoietin resistance in pediatric and adult dialysis cohorts. ⁵³ ⁶²	Bamgbola OF...Coco M	18800231	2009
12	[Primary hyperparathyroidism]. ⁵³ ⁶²	Wemeau JL	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	Juhlin CC...Hoog A	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	Lauter K...Arnold A	18767934	2009
15	A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. ⁵³ ⁶²	Raeder H...Bjerknes R	18775977	2008
16	Effect of parathyroidectomy on anemia and erythropoietin dosing in end-stage renal disease patients with hyperparathyroidism. ⁵³ ⁶²	Trunzo JA...Wilhelm SM	19040997	2008
17	Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. ⁵³ ⁶²	Rus R...Schofl C	18796518	2008
18	The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. ⁵³ ⁶²	Lin L...Simonds WF	18987311	2008
19	HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? ⁵³ ⁶²	Silveira LG...Sarquis MS	19169472	2008
20	Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. ⁵³ ⁶²	Sarquis MS...De Marco L	18436011	2008
21	Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. ⁵³ ⁶²	Lauter KB...Arnold A	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	Lomonte C...Basile C	18322048	2008
23	Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. ⁵³ ⁶²	Egbuna OI...Brown EM	18328986	2008
24	Recent updates on the calcium-sensing receptor as a drug target. ⁵³ ⁶²	Trivedi R...Chattopadhyay N	18220773	2008
25	A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature. ⁵³ ⁶²	Ghataorhe P...Ford JM	18036394	2007
26	Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. ⁵³ ⁶²	Iacobone M...Favia G	18063086	2007
27	Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. ⁵³ ⁶²	Skelly BJ...Franklin RJ	17158076	2007
28	Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. ⁵³ ⁶²	Fox L...Wiltshire E	17974727	2007
29	Human RNA polymerase II-associated factor complex: dysregulation in cancer. ⁵³ ⁶²	Chaudhary K...Batra SK	17599057	2007
30	New insights into nephrogenic systemic fibrosis. ⁵³ ⁶²	Swaminathan S...Shah SV	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	Toke J...Toth M	17555508	2007
32	Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. ⁵³ ⁶²	Kawarazaki H...Fujita T	17891358	2007
33	Diseases and clinical applications of the calcium sensing receptor. ⁵³ ⁶²	Alon US	17925789	2007
34	The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. ⁵³ ⁶²	Altinova AE...Arslan M	17647146	2007
35	Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. ⁵³ ⁶²	Juhlin CC...Hoog A	17639063	2007
36	Sexual function in chronic kidney disease. ⁵³ ⁶²	Anantharaman P...Schmidt RJ	17395114	2007
37	Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. ⁵³ ⁶²	Lin L...Simonds WF	17314275	2007
38	Inherited endocrine diseases involving G proteins and G protein-coupled receptors. ⁵³ ⁶²	Spiegel AM	17986833	2007
39	Does parathyroid hormone affect erythropoietin therapy in dialysis patients? ⁵³ ⁶²	Al-Hilali N...Johny KV	17159367	2007
40	FGF23: its role in renal bone disease. ⁵³ ⁶²	Fukagawa M...Kazama JJ	16932898	2006
41	Parafibromin inhibits cancer cell growth and causes G1 phase arrest. ⁵³ ⁶²	Zhang C...Teh BT	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	Kelly TG...Carpenter TO	16995822	2006
43	Regulation of parathyroid function in chronic kidney disease (CKD). ⁵³ ⁶²	Fukagawa M...Abe T	17009074	2006
44	The calcium-sensing receptor and related diseases. ⁵³ ⁶²	D'Souza-Li L	17117288	2006
45	Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. ⁵³ ⁶²	Guarnieri V...Cole DE	16720667	2006
46	Persistent hyperparathyroidism in renal allograft recipients: vitamin D receptor, calcium-sensing receptor, and apoptosis. ⁵³ ⁶²	Taniguchi M...Iida M	16738533	2006
47	Basic and clinical aspects of parathyroid hyperplasia in chronic kidney disease. ⁵³ ⁶²	Fukagawa M...Kazama JJ	16810308	2006
48	The calcium-sensing receptor and vitamin D receptor expression in tertiary hyperparathyroidism. ⁵³ ⁶²	Grzela T...Nawrot I	16596260	2006
49	Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. ⁵³ ⁶²	Bradley KJ...Thakker RV	16487440	2006
50	Hypercalcemia of malignancy due to ectopic transactivation of the parathyroid hormone gene. ⁵³ ⁶²	VanHouten JN...Udelsman R	16263810	2006

Sources

Genes for Hyperparathyroidism

Genes related to Hyperparathyroidism (1 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HRPT3	Hyperparathyroidism 3	Genetic Locus	57.71	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
2	CASR	Calcium Sensing Receptor	Protein Coding	69.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Functions (show sections)	8675635 16596260 11668634 (more) 12173690 12815330 15241791 11857921 18796518 16509534 15292296 8981014 9109436 15879434 19474519 12386252 10199162 17158076 15588433 15577104 18328986 10468915 15572418 15241688 12412774 15535429 15176389 9217223 19179454 17974727 17555508 15658669 11762699 8995751 19789209 8965680 7717399 15490408 8597637 17925789 16738533 16363350 11889203 19953642 19389809 15579740 20164288 17117288 11013439 15662592
3	CDC73	Cell Division Cycle 73	Protein Coding	58.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	18063086 18436011 16487440 (more) 15580289 16989776 18987311 16116486 19169472 17599057 14585940 17314275 14985403 10396361 16995822 17639063 16720667 19148484 19474519 16735973
4	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	47.81	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	PTH	Parathyroid Hormone	Protein Coding	39.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	16263810 9730564 1643722 (more) 7903311 7485141 16334754 11046116 9198369 9364360 11705321 15118272 1855292 8942941
6	MEN1	Menin 1	Protein Coding	38.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15635078 11966738 9843042 (more) 14633735 9215689 11421544 11701736 15619041 8981014 12213668 19421129 11352308 11836268 12016470 10993647 9792884 9681844 12412775 11381507 10548885 15962670 17158076 15714081 11419921 15775089 10396361 18500673 14567464 17373213 18036394 19474519 9709921 15292357
7	RET	Ret Proto-Oncogene	Protein Coding	34.96	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	8957482 9820617 19421129 (more) 9736899 9467562 10220148 15233556 15292357 8616528 15814540 15355445 10691056 8675600 10374185 10458257 8626834 9146685 10396361 16444355
8	VDR	Vitamin D Receptor	Protein Coding	34.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16596260 10690903 8898730 (more) 8705842 10843188 15577104 10441653 16738533 11598396 10508794 18322048 15891005 11713240 8397225 11033842 8726384 10478142 10504487
9	FGF23	Fibroblast Growth Factor 23	Protein Coding	27.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12839077 17009074 17891358 (more) 20180772 16810308 16932898 15698459 15930999
10	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	26.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11048990 1549952 10614530 (more) 11490527 12722034 8072603 11468230 7865545 7724029 12780679 2117992 8810739
11	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	25.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15526839 7752492 8966142 (more) 9387131 1362418 8265793 16122654
12	GCM2	Glial Cells Missing Transcription Factor 2	Protein Coding	24.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
13	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	23.9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8106619 11091241 16873103 (more) 12412793 7708588 11046116 12009005 2316398 2212931 2024662
14	EPO	Erythropoietin	Protein Coding	22.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9159297 12846770 8417383 (more) 17855637 8004833 10951854 9915269 11434186 12911189 18800231 16502078 12549658 10805462 9655362 19040997 9561479 17159367 17395114 2091687 8945016 10746799
15	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	22.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	14593085 15200143 15579740 (more) 14696768 10402476 8783675 10230755 12412775 15640545 9719629 17986833
16	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	21.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8673864
17	PHEX	Phosphate Regulating Endopeptidase X-Linked	Protein Coding	20.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	14693675 10460513 18775977
18	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	20.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18767934 9275211
19	GAST	Gastrin	Protein Coding	20.4	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9465604 11680262 8209182
20	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	19.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18288099
21	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	18.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12476941 16362459 15615494
22	TNFSF11	TNF Superfamily Member 11	Protein Coding	18.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19732857 15615494
23	CHGA	Chromogranin A	Protein Coding	18.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2313983 9228469
24	GPRC6A	G Protein-Coupled Receptor Class C Group 6 Member A	Protein Coding	17.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18220773
25	NR1I3	Nuclear Receptor Subfamily 1 Group I Member 3	Protein Coding	16.72	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15658669 8675635 17018434 (more) 9011580 12940896 15525492 10633465 12753275 8995751
26	ALB	Albumin	Protein Coding	16.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	KL	Klotho	Protein Coding	16.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	ALPP	Alkaline Phosphatase, Placental	Protein Coding	16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15118272
29	GC	GC Vitamin D Binding Protein	Protein Coding	15.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	SLPI	Secretory Leukocyte Peptidase Inhibitor	Protein Coding	15.21	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8363875 2109488
31	SCT	Secretin	Protein Coding	15.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1377324
32	SOST	Sclerostin	Protein Coding	15.06	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	15.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	IGF1	Insulin Like Growth Factor 1	Protein Coding	14.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Hyperparathyroidism

Search GEO for disease gene expression data for Hyperparathyroidism.

Sources

Pathways for Hyperparathyroidism

Pathways related to Hyperparathyroidism according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.51	RET PTHLH PTH PRKAR1A MEN1 GAST
2	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.91	PTHLH PTH PRKAR1A CALCA
3	Vitamin D receptor pathway ⁷⁴	11.49	VDR TRPV6 PTHLH PTH FGF23 CYP27B1
4	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.21	VDR PTH CYP27B1 CALCA BGLAP
5	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.94	VDR PTHLH PTH PRKAR1A BGLAP
6	FGF23 signaling in hypophosphatemic rickets and related disorders ⁷⁴	10.9	CYP27B1 FGF23 PHEX PTH
7	Vitamin D metabolism ⁷⁴	10.54	VDR PTH CYP27B1

Sources

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