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

MCID: HYP069 MIFTS: 59	Hyperparathyroidism Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Hyperparathyroidism

MalaCards integrated aliases for Hyperparathyroidism:

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hyperparathyroidism and other disorders of parathyroid gland

Hyperparathyroidism, unspecified

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

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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...

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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:

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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

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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
FDA Label: Aredia Disease/s that Drug Treats:osteolytic bone metastases of breast cancer Indications and Usage: ¹⁸ Hypercalcemia of MalignancyAredia, in conjunction with adequate hydration, is indicated for the treatment of moderate or severehypercalcemia associated with malignancy, with or without bone metastases. Patients who have eitherepidermoid or non-epidermoid tumors respond to treatment with Aredia. Vigorous saline hydration, anintegral part of hypercalcemia therapy, should be initiated promptly and an attempt should be made torestore the urine output to about 2 L/day throughout treatment. Mild or asymptomatic hypercalcemia maybe treated with conservative measures (i.e., saline hydration, with or without loop diuretics). Patientsshould be hydrated adequately throughout the treatment, but overhydration, especially in those patientswho have cardiac failure, must be avoided. Diuretic therapy should not be employed prior to correction ofhypovolemia. The safety and efficacy of Aredia in the treatment of hypercalcemia associated withhyperparathyroidism or with other non-tumor-related conditions has not been established.Pagetâs DiseaseAredia is indicated for the treatment of patients with moderate to severe Pagetâs disease of bone. Theeffectiveness of Aredia was demonstrated primarily in patients with serum alkaline phosphatase â¥3 timesthe upper limit of normal. Aredia therapy in patients with Pagetâs disease has been effective in reducingserum alkaline phosphatase and urinary hydroxyproline levels by â¥50% in at least 50% of patients, and byâ¥30% in at least 80% of patients. Aredia therapy has also been effective in reducing these biochemicalmarkers in patients with Pagetâs disease who failed to respond, or no longer responded to othertreatments.Osteolytic Bone Metastases of Breast Cancer and Osteolytic Lesions of MultipleMyelomaAredia is indicated, in conjunction with standard antineoplastic therapy, for the treatment of osteolyticbone metastases of breast cancer and osteolytic lesions of multiple myeloma. The Aredia treatment effectappeared to be smaller in the study of breast cancer patients receiving hormonal therapy than in the studyof those receiving chemotherapy, however, overall evidence of clinical benefit has been demonstrated(see CLINICAL PHARMACOLOGY, Osteolytic Bone Metastases of Breast Cancer and OsteolyticLesions of Multiple Myeloma, Clinical Trials section). DrugBank Targets: ¹⁶ 1. Farnesyl pyrophosphate synthase;2. Hydroxylapatite Mechanism of Action: ¹⁸ Target: bone resorption; FPP synthase Action: inhibitor FDA: The principal pharmacologic action of Aredia is inhibition of bone resorption. Although the mechanism ofantiresorptive action is not completely understood, several factors are thought to contribute to this action.Aredia adsorbs to calcium phosphate (hydroxyapatite) crystals in bone and may directly block dissolutionof this mineral component of bone. In vitro studies also suggest that inhibition of osteoclast activitycontributes to inhibition of bone resorption. In animal studies, at doses recommended for the treatment ofhypercalcemia, Aredia inhibits bone resorption apparently without inhibiting bone formation andmineralization. Of relevance to the treatment of hypercalcemia of malignancy is the finding that Arediainhibits the accelerated bone resorption that results from osteoclast hyperactivity induced by varioustumors in animal studies.
2	Sensipar ¹⁸	CINACALCET HYDROCHLORIDE	Amgen	March 2004
FDA Label: Sensipar Disease/s that Drug Treats:Hyperparathyroidism / Hypercalcemia Indications and Usage: ¹⁸ Sensipar is a calcium-sensing receptor agonist indicated for: concentration time curve) is increased in patients with moderate and Secondary Hyperparathyroidism (HPT) in adult patients with chronic severe hepatic impairment. Patients should be closely monitored forkidney disease (CKD) on dialysis. (1.1) serum calcium, serum phosphorus, and iPTH levels throughout Hypercalcemia in adult patients with Parathyroid Carcinoma (PC). (1.2) treatment. (5.3, 8.7) Hypercalcemia in adult patients with primary HPT for whomparathyroidectomy would be indicated on the basis of serum calciumlevels, but who are unable to undergo parathyroidectomy. (1.3) DrugBank Targets: ¹⁶ 1. Extracellular calcium-sensing receptor Mechanism of Action: ¹⁸ Target: calcium-sensing receptor Action: increases sensitivity to activation by extracellular calcium FDA: The calcium-sensing receptor on the surface of the chief cell of the parathyroid gland is the principal regulatorof PTH synthesis and secretion. Cinacalcet, the active ingredient in Sensipar, directly lowers PTH levels byincreasing the sensitivity of the calcium-sensing receptor to extracellular calcium. The reduction in PTH isassociated with a concomitant decrease in serum calcium levels.
3	Zometa ¹⁸ ⁴⁹	ZOLEDRONIC ACID	Novartis	August 2001/ February 2002
FDA Label: Zometa Disease/s that Drug Treats:Hypercalcemia of malignancy/ Multiple myeloma; bone metastases from solid tumors Indications and Usage: ¹⁸ Zometa is a bisphosphonate indicated for the treatment of: Hypercalcemia of malignancy. (1.1) Patients with multiple myeloma and patients with documented bonemetastases from solid tumors, in conjunction with standard antineoplastictherapy. Prostate cancer should have progressed after treatment with atleast one hormonal therapy. (1.2)Important limitation of use: The safety and efficacy of Zometa has not beenestablished for use in hyperparathyroidism or nontumor-relatedhypercalcemia. (1.3) DrugBank Targets: ¹⁶ 1. Farnesyl pyrophosphate synthase;2. Geranylgeranyl pyrophosphate synthase;3. Hydroxylapatite Mechanism of Action: ¹⁸ Target: bone resorption Action: inhibitor FDA: The principal pharmacologic action of zoledronic acid is inhibition of bone resorption. Although theantiresorptive mechanism is not completely understood, several factors are thought to contribute to this action.In vitro, zoledronic acid inhibits osteoclastic activity and induces osteoclast apoptosis. Zoledronic acid alsoblocks the osteoclastic resorption of mineralized bone and cartilage through its binding to bone. Zoledronic acidinhibits the increased osteoclastic activity and skeletal calcium release induced by various stimulatory factorsreleased by tumors.

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

Benzocaine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Not Applicable

94-09-7, 1994-09-7

2337

tannic acid

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

Sevelamer

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

52757-95-6

Calcium acetate

Approved, Investigational

Phase 4,Phase 3,Not Applicable

62-54-4

Denosumab

Approved

Phase 4,Phase 3,Phase 1

615258-40-7

Alendronate

Approved

Phase 4,Phase 2,Not Applicable

66376-36-1, 121268-17-5

2088

Darbepoetin alfa

Approved, Investigational

Phase 4

11096-26-7, 209810-58-2

Ethanol

Approved

Phase 4

64-17-5

702

Valsartan

Approved, Investigational

Phase 4

137862-53-4

60846

Racepinephrine

Approved

Phase 4

329-65-7

838

Angiotensin II

Approved, Investigational

Phase 4,Phase 2

11128-99-7, 68521-88-0, 4474-91-3

172198 65143

Epinephrine

Approved, Vet_approved

Phase 4

51-43-4

5816

Calcium Carbonate

Approved, Investigational

Phase 4,Phase 3,Phase 2,Not Applicable

471-34-1

Zoledronic acid

Approved

Phase 4,Phase 1

118072-93-8

68740

Pamidronate

Approved

Phase 4

40391-99-9

4674

Phytonadione

Approved, Investigational

Phase 4

84-80-0

4812 5284607

Iron

Approved

Phase 4

7439-89-6

23925

Nicotinamide

Approved, Investigational

Phase 4

98-92-0

936

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

1406-16-2

Ergocalciferol

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

50-14-6

5280793

Calcitriol

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

32222-06-3

5280453 134070

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

11103-57-4, 68-26-8

445354

Vitamin D3

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

67-97-0

5280795 6221

Alfacalcidol

Approved, Nutraceutical

Phase 4,Phase 2,Not Applicable

41294-56-8

5282181

Menadione

Approved, Nutraceutical

Phase 4

58-27-5

4055

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 1

59-30-3

6037

Niacin

Approved, Investigational, Nutraceutical

Phase 4

59-67-6

938

Calciferol

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Calcium, Dietary

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Hormones

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Ergocalciferols

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Micronutrients

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Hormone Antagonists

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Vitamin D2

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Cinacalcet Hydrochloride

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Calcimimetic Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Bone Density Conservation Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Vitamins

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Trace Elements

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Pharmaceutical Solutions

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

1 alpha-hydroxyergocalciferol

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Vasoconstrictor Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Retinol palmitate

Phase 4

retinol

Phase 4

Hydroxycholecalciferols

Phase 4,Phase 3,Phase 2,Not Applicable

Calcifediol

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

19356-17-3

Antimetabolites

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hypolipidemic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

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 :

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 ²⁹

Sources

Anatomical Context for Hyperparathyroidism

MalaCards organs/tissues related to Hyperparathyroidism:

⁴¹

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

Sources

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 )	Soares MR...Conti de Freitas LC	2019
2	Molecular genetic insights into sporadic primary hyperparathyroidism. ( 30475215 )	Brewer K...Arnold A	2019
3	Cinacalcet as rescue therapy for refractory hyperparathyroidism in young children with advanced chronic kidney disease. ( 30203374 )	Arenas Morales AJ...Abitbol CL	2019
4	First Case of Plasma Cell Myeloma With Brown Tumor Features Unrelated to Hyperparathyroidism. ( 30215237 )	Kim H...Kim SH	2019
5	Calcitriol accelerates vascular calcification irrespective of vitamin K status in a rat model of CKD with hyperphosphatemia and secondary hyperparathyroidism. ( 29903718 )	McCabe K.M....Holden R.M.	2018
6	Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. ( 29108698 )	El Lakis M....Kebebew E.	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 )	Wang G....Mu Y.	2018
8	Treatment Based on Cinacalcet Reduces Oxidative Stress in Hemodialysis Patients with Secondary Hyperparathyroidism. ( 29879701 )	Kuczera P....Wiecek A.	2018
9	Outcomes in patients with renal hyperparathyroidism requiring cinacalcet pre-operatively followed by parathyroidectomy. ( 29929906 )	Baker D....Nagar S.	2018
10	Calciphylaxis as cutaneous marker of hyperparathyroidism and successful outcome with parathyroidectomy followed by hyperbaric oxygen therapy. ( 29451194 )	Hemdani R....Rathod D.	2018
11	Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. ( 29436275 )	Roche A.M....Chai A.R.L.	2018
12	Uremic leontiasis ossea, a rare presentation of severe renal osteodystrophy secondary to hyperparathyroidism. ( 29037869 )	Donoso-Hofer F....Ortega-Pinto A.V.	2018
13	Old and new calcimimetics for treatment of secondary hyperparathyroidism: impact on biochemical and relevant clinical outcomes. ( 29423207 )	Pereira L....FrazALo J.M.	2018
14	Selective parathyroid venous sampling in primary hyperparathyroidism: A systematic review and meta-analysis. ( 29756350 )	Ibraheem K....Kandil E.	2018
15	An unusual etiology of hyperparathyroidism: robotic-assisted resection of a giant functional intrathymic parathyroid cyst. ( 29963377 )	Davis T.A....Yang S.C.	2018
16	Influence of Parathyroidectomy on Bone Metabolism and Bone Pain in Patients with Secondary Hyperparathyroidism. ( 29393259 )	Schneider R....Schlosser K.	2018
17	Re: Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System. ( 29357552 )	Assimos D.G.	2018
18	REDUCTION OF ARRHYTHMIAS IN PRIMARY HYPERPARATHYROIDISM, BY PARATHYROIDECTOMY, EVALUATED WITH 24 HOUR ECG MONITORING. ( 29875287 )	Pepe J....Minisola S.	2018
19	Normocalcaemic primary hyperparathyroidism: a pragmatic approach. ( 29437827 )	Babwah F....Buch H.N.	2018
20	Long-Term Skeletal Outcomes of Primary Hyperparathyroidism Patients After Treatment with Parathyroidectomy: A Systematic Review and Meta-Analysis. ( 29381879 )	Zhang L....Li H.	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 )	A8ayir D....A8akal E.	2018
22	Role of etelcalcetide in the management of secondary hyperparathyroidism in hemodialysis patients: a review on current data and place in therapy. ( 29910605 )	Friedl C....Zitt E.	2018
23	Protective Effect of Denosumab on Bone in Older Women with Primary Hyperparathyroidism. ( 29364518 )	Eller-Vainicher C....Chiodini I.	2018
24	Dual energy computed tomography should be the first line preoperative localization imaging test for primary hyperparathyroidism patients. ( 29370881 )	Beatty J.D.	2018
25	Predictors of renal function and calcifications in primary hyperparathyroidism: A nested case-control study. ( 29955845 )	Ejlsmark-Svensson H....SikjA	2018
26	Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )	Cong X....Gu X.	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 )	Dutta D....Dogra S.	2018
28	Classic Primary Hyperparathyroidism Versus Normocalcemic and Normohormonal Variants: Do They Really Differ? ( 29392434 )	Kiriakopoulos A....Linos D.	2018
29	Risk factors of developing the hungry bone syndrome after parathyroidectomy for primary hyperparathyroidism. ( 29928157 )	Jakubauskas M....Strupas K.	2018
30	Familial isolated hyperparathyroidism due to HRPT2 mutation. ( 29941370 )	LujA!n D....Candel M.F.	2018
31	Mito-micea88 and mitochondrial DNA mutator mice as models of human osteoporosis caused not by aging but by hyperparathyroidism. ( 29973435 )	Mito T....Hayashi J.I.	2018
32	Trabecular Bone Score in Obese and Non-obese Subjects with Primary Hyperparathyroidism Before and After Parathyroidectomy. ( 29373705 )	Donovan Tay Y.K....Bilezikian J.P.	2018
33	Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome. ( 29739732 )	Siller A.F....ArbelA!ez A.M.	2018
34	Clinical value of 11C-methionine positron emission tomography in persistent primary hyperparathyroidism-A case report with a mediastinal parathyroid adenoma. ( 29573598 )	MA...Rolighed L.	2018
35	Preterm Parturient with Polyhydramnios and Pancreatitis: Primary Presentation of Hyperparathyroidism. ( 29607233 )	Han E.S....Argani C.	2018
36	Morbidity in parathyroid surgery for renal disease is under reported: a comparison of outcomes with primary hyperparathyroidism. ( 29962299 )	Nastos K....Palazzo F.	2018
37	Initial surgical results of 500 Parathyroidectomies for Hyperparathyroidism related to chronic kidney disease - mineral and bone disorder. ( 29944161 )	Neves M.C.D....Santos R.O.	2018
38	Cholecalciferol Additively Reduces Serum Parathyroid Hormone Levels in Severe Secondary Hyperparathyroidism Treated with Calcitriol and Cinacalcet among Hemodialysis Patients. ( 29439405 )	Zheng C.M....Lu K.C.	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 )	Emamifar A....Jensen Hansen I.M.	2018
40	Periosteal chondroma of the cuboid with secondary aneurysmal bone cyst in a setting of secondary hyperparathyroidism. ( 29413778 )	Rolvien T....Yastrebov O.	2018
41	Effect of parathyroidectomy on quality of life and non-specific symptoms in normocalcaemic primary hyperparathyroidism. ( 29405278 )	Bannani S....MiralliAc E.	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 )	Yajima A....Nitta K.	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

Sources

Genes for Hyperparathyroidism

Genes related to Hyperparathyroidism (1 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CASR	Calcium Sensing Receptor	Protein Coding	88.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Functions Variants (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
2	CDC73	Cell Division Cycle 73	Protein Coding	78.94	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	18063086 18436011 16487440 (more) 15580289 16989776 18987311 16116486 19169472 17599057 14585940 17314275 14985403 10396361 16995822 17639063 16720667 19148484 19474519 16735973
3	HRPT3	Hyperparathyroidism 3	Genetic Locus	57.67	MalaCards inferred ⁴¹ GeneCards inferred via : Gene name (show sections)
4	MEN1	Menin 1	Protein Coding	57.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (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
5	PTH	Parathyroid Hormone	Protein Coding	56.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries Variants (show sections)	16263810 9730564 1643722 (more) 7903311 7485141 16334754 11046116 9198369 9364360 11705321 15118272 1855292 8942941
6	RET	Ret Proto-Oncogene	Protein Coding	43.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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
7	VDR	Vitamin D Receptor	Protein Coding	42.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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
8	GCM2	Glial Cells Missing Homolog 2	Protein Coding	41.56	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	35.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	18288099
10	FGF23	Fibroblast Growth Factor 23	Protein Coding	34.73	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12839077 17009074 17891358 (more) 20180772 16810308 16932898 15698459 15930999
11	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	34.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11048990 1549952 10614530 (more) 11490527 12722034 8072603 11468230 7865545 7724029 12780679 2117992 8810739
12	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	34.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15526839 7752492 8966142 (more) 9387131 1362418 8265793 16122654
13	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	31.56	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8106619 11091241 16873103 (more) 12412793 7708588 11046116 12009005 2316398 2212931 2024662
14	EPO	Erythropoietin	Protein Coding	30.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	28.84	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8673864
16	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	28.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	14593085 15200143 15579740 (more) 14696768 10402476 8783675 10230755 12412775 15640545 9719629 17986833
17	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	28.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12476941 16362459 15615494
18	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	27.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18767934 9275211
19	PHEX	Phosphate Regulating Endopeptidase Homolog X-Linked	Protein Coding	27.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	14693675 10460513 18775977
20	CHGA	Chromogranin A	Protein Coding	25.96	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	2313983 9228469
21	GAST	Gastrin	Protein Coding	18.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9465604 11680262 8209182

Sources

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

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	Parathyroid hormone synthesis, secretion and action ³⁷	11.25	BGLAP CASR CYP27B1 FGF23 GCM2 PTH
2	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	BGLAP PRKAR1A PTH PTHLH VDR
3	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.09	BGLAP CALCA CYP27B1 PTH TNFRSF11B VDR
4	Osteoblast Signaling ¹	10.7	BGLAP FGF23 PTH TNFRSF11B
5	Osteoclast Signaling ¹	10.57	ACP5 TNFRSF11B
6	Vitamin D Metabolism ¹	10.5	CYP27B1 PTH VDR

Sources

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

Sources for Hyperparathyroidism

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hyperparathyroidism

Aliases & Classifications for Hyperparathyroidism

MalaCards integrated aliases for Hyperparathyroidism:

Classifications:

External Ids:

Summaries for Hyperparathyroidism

Related Diseases for Hyperparathyroidism

Diseases in the Hyperparathyroidism family:

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

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

Graphical network of the top 20 diseases related to Hyperparathyroidism:

Symptoms & Phenotypes for Hyperparathyroidism

MGI Mouse Phenotypes related to Hyperparathyroidism:

Drugs & Therapeutics for Hyperparathyroidism

FDA approved drugs:

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

Interventional clinical trials:

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

Cochrane evidence based reviews: hyperparathyroidism

Genetic Tests for Hyperparathyroidism

Genetic tests related to Hyperparathyroidism:

Anatomical Context for Hyperparathyroidism

MalaCards organs/tissues related to Hyperparathyroidism:

Publications for Hyperparathyroidism

Articles related to Hyperparathyroidism:

Genes for Hyperparathyroidism

Genes related to Hyperparathyroidism (1 elite genes):

Variations for Hyperparathyroidism

ClinVar genetic disease variations for Hyperparathyroidism:

Expression for Hyperparathyroidism

Pathways for Hyperparathyroidism

Pathways related to Hyperparathyroidism according to GeneCards Suite gene sharing:

GO Terms for Hyperparathyroidism

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

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

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

Sources for Hyperparathyroidism

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