FIHP
MCID: HYP311
MIFTS: 33

Hyperparathyroidism 3 (FIHP) malady

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hyperparathyroidism 3

Aliases & Descriptions for Hyperparathyroidism 3:

Name: Hyperparathyroidism 3 54 13 69
Familial Isolated Hyperparathyroidism 50 25 56
Hyperparathyroidism 1 50 25 69
Fihp 50 25
Hyperparathyroidism, Familial Isolated Primary 50
Familial Primary Hyperparathyroidism 50
Familial Hyperparathyroidism 69
Hrpt1 50
Fihpt 56

Characteristics:

Orphanet epidemiological data:

56
familial isolated hyperparathyroidism
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 610071
Orphanet 56 ORPHA99879
ICD10 via Orphanet 34 E21.0

Summaries for Hyperparathyroidism 3

NIH Rare Diseases : 50 familial isolated hyperparathyroidism (fihp) is an inherited form of primary hyperparathyroidism that is not associated with other features. the age of diagnosis varies from childhood to adulthood. in fihp, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). the tumors are usually benign, but a cancerous tumor can develop in rare cases. abnormal levels of calcium cause many of the symptoms of fihp, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. osteoporosis often also develops. fihp may be caused by mutations in the men1, cdc73 (also known as the hrpt2 gene), or casr genes and is typically inherited in an autosomal dominant manner. in some cases, the cause is unknown. mutations in the men1 and cdc73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. fihp can also represent an early stage of other syndromes. treatment for fihp often includes surgical removal of the affected gland(s). last updated: 12/22/2014

MalaCards based summary : Hyperparathyroidism 3, also known as familial isolated hyperparathyroidism, is related to hyperparathyroidism, familial primary and cdc73-related familial isolated hyperparathyroidism, and has symptoms including abdominal symptom, osteopenia and renal insufficiency. An important gene associated with Hyperparathyroidism 3 is CDC73 (Cell Division Cycle 73). The drugs Benzocaine and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney.

Genetics Home Reference : 25 Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.

Description from OMIM: 610071

Related Diseases for Hyperparathyroidism 3

Graphical network of the top 20 diseases related to Hyperparathyroidism 3:



Diseases related to Hyperparathyroidism 3

Symptoms & Phenotypes for Hyperparathyroidism 3

Clinical features from OMIM:

610071

Human phenotypes related to Hyperparathyroidism 3:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal symptom 56 32 Occasional (29-5%) HP:0011458
2 osteopenia 56 32 Very frequent (99-80%) HP:0000938
3 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
4 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
5 hypercalciuria 56 32 Very frequent (99-80%) HP:0002150
6 nephrocalcinosis 56 32 Very frequent (99-80%) HP:0000121
7 parathyroid adenoma 56 32 Very frequent (99-80%) HP:0002897
8 elevated circulating parathyroid hormone level 56 32 Very frequent (99-80%) HP:0003165
9 chondrocalcinosis 56 32 Very frequent (99-80%) HP:0000934
10 hyperphosphaturia 56 32 Very frequent (99-80%) HP:0003109
11 infantile hypercalcemia 56 32 Very frequent (99-80%) HP:0008250
12 generalized osteoporosis 56 32 Very frequent (99-80%) HP:0040160
13 primary hyperparathyroidism 56 32 Very frequent (99-80%) HP:0008200
14 hypercalcemia 56 Very frequent (99-80%)

Drugs & Therapeutics for Hyperparathyroidism 3

Drugs for Hyperparathyroidism 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
2
Calcium carbonate Approved Phase 4,Phase 3,Phase 2 471-34-1
3
Denosumab Approved Phase 4,Phase 3 615258-40-7
4
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
5
Calcium acetate Approved Phase 4 62-54-4
6
Sevelamer Approved Phase 4,Phase 3,Phase 2 52757-95-6, 152751-57-0 3085017
7
Zoledronic acid Approved Phase 4 118072-93-8 68740
8
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
9
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
10
Iron Approved Phase 4 7439-89-6 23925
11
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-14-6 5280793
12 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
13
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 67-97-0 6221 10883523 5280795
14
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 32222-06-3 134070 5280453
15
Alfacalcidol Approved, Nutraceutical Phase 4,Phase 2 41294-56-8 5282181
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
17 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Calcimimetic Agents Phase 4,Phase 2,Phase 3
19 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Cinacalcet Hydrochloride Phase 4,Phase 2,Phase 3
21 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Hormone Antagonists Phase 4,Phase 2,Phase 3
23 Hormones Phase 4,Phase 2,Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
25 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 vitamin d Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
29 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
31 Calcifediol Phase 4,Phase 3 19356-17-3
32 Hydroxycholecalciferols Phase 4,Phase 3,Phase 2
33 Antimetabolites Phase 4
34 Hypolipidemic Agents Phase 4
35 Lipid Regulating Agents Phase 4
36 1 alpha-hydroxyergocalciferol Phase 4,Phase 3,Phase 2
37 Antacids Phase 4,Phase 3,Phase 2
38 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2
39 Anticholesteremic Agents Phase 4
40 Atorvastatin Calcium Phase 4 134523-03-8
41 Chelating Agents Phase 4,Phase 3,Phase 2
42 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
43 Liver Extracts Phase 4
44 Diphosphonates Phase 4
45
Angiotensin II Phase 4,Phase 2 68521-88-0, 11128-99-7 65143 172198
46 Angiotensin II Type 1 Receptor Blockers Phase 4,Phase 2
47 Angiotensin Receptor Antagonists Phase 4,Phase 2
48 Angiotensinogen Phase 4,Phase 2
49 Antihypertensive Agents Phase 4,Phase 2
50 Dihydroxycholecalciferols Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 156)
id Name Status NCT ID Phase
1 Cinacalcet in Management of Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4
2 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Unknown status NCT00288873 Phase 4
3 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4
4 Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT) Completed NCT00823303 Phase 4
5 Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism Completed NCT00123461 Phase 4
6 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4
7 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4
8 Effectiveness and Safety of IV Zemplar in Patients on Hemodialysis and With Secondary Hyperparathyroidism Using iPTH/100 as Initial Dose Completed NCT00891813 Phase 4
9 Effect of Phosphate Binders on FGF-23 With Concurrent Calcitriol Completed NCT01748396 Phase 4
10 A Phase 4, Conversion Study of Hectorol® Injection to Hectorol® Capsules in Stage 5 CKD Patients on Dialysis Completed NCT00418600 Phase 4
11 Efficacy of Vitamin D2 to Treat Chronic Kidney Disease Mineral and Bone Disorder Completed NCT01633853 Phase 4
12 Efficacy and Safety of 6 Months Treatment With Paricalcitol Injection or Oral in Patients With Secondary Hyperparathyroidism on Dialysis Completed NCT00537979 Phase 4
13 Parathyroidectomy vs Cinacalcet in the Treatment of Secondary Hyperparathyroidism Post Renal Transplantation Completed NCT01178450 Phase 4
14 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4
15 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Kidney Transplantation. Completed NCT01939977 Phase 4
16 The Study of Efficacy and Safety of REGPARA Drug in Dialysis Patients Have High Blood Levels of Parathyroid Completed NCT02056730 Phase 4
17 Vitamin D and Coronary Calcification Study Completed NCT00752102 Phase 4
18 Compare the Efficacy of Cinacalcet vs Traditional Vitamin D for Secondary Hyperparathyroidism (SHPT) Among Subjects Undergoing Hemodialysis Completed NCT01181531 Phase 4
19 How Vitamin D Analogues Affect Endothelial Cells in Patients on Dialysis Completed NCT00528788 Phase 4
20 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4
21 Evaluation of the Effectiveness of Paricalcitol Versus Cinacalcet With Low-Dose Vitamin D Completed NCT00977080 Phase 4
22 Study of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease Completed NCT00395382 Phase 4
23 CARE-2 (Calcium Acetate [PhosLo®]/Sevelamer[Renagel®] Evaluation Study 2) for Heart Calcification in Dialysis Patients Completed NCT00211939 Phase 4
24 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4
25 Physiologic Interactions Between the Adrenal- and the Parathyroid Glands Recruiting NCT02572960 Phase 4
26 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Recruiting NCT02238418 Phase 4
27 Paricalcitol Improves Anemia of Inflammation Recruiting NCT02876211 Phase 4
28 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients Not yet recruiting NCT03182699 Phase 4
29 Active Vitamin D Effect on Left Ventricular Hypertrophy Terminated NCT00175149 Phase 4
30 Management of Mineral and Bone Disease in Hemodialysis-Calcitriol vs. Paricalcitol Terminated NCT01725113 Phase 4
31 Cinacalcet for Secondary Hyperparathyroidism in Patients Receiving Hemodialysis Terminated NCT00446329 Phase 4
32 Efficacy and Safety of Paricalcitol on the Treatment of Secondary Hyperparathyroidism in Calcitriol Resistant Dialysis Subjects Terminated NCT00664430 Phase 4
33 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4
34 Cinacalcet in Paediatric Secondary Hyperparathyroidism (SHPT) Due to Chronic Kidney Disease (CKD) Unknown status NCT01479088 Phase 2, Phase 3
35 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3
36 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3
37 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
38 Phase 3 Study of KHK7580 Completed NCT02549391 Phase 2, Phase 3
39 Safety and Efficacy of CTAP101 to Treat Secondary Hyperparathyroidism in Stage 3 or 4 CKD and Vitamin D Insufficiency Completed NCT01704079 Phase 3
40 Safety and Efficacy of CTAP101 to Treat Secondary Hyperparathyroidism in Stage 3 or 4 CKD and Vitamin D Insufficiency Completed NCT01651000 Phase 3
41 Trial Of Paricalcitol and Cholecalciferol(Vitamin D3) in the Treatment Of Secondary Hyperparathyroidism in Patients After ROUX-EN-Y Gastric Bypass Surgery Completed NCT01138475 Phase 3
42 Efficacy and Safety of Etelcalcetide (AMG 416) in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease on Hemodialysis Completed NCT01785849 Phase 3
43 Efficacy and Safety of Etelcalcetide (AMG 416) in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease (CKD) on Hemodialysis Completed NCT01788046 Phase 3
44 A Study of an Investigational Medication for the Treatment of Secondary Hyperparathyroidism in Dialysis Patients Completed NCT00037635 Phase 3
45 Extension Study of CTAP101-CL-3001 or CTAP101-CL-3002 Completed NCT02282813 Phase 3
46 Safety and Efficacy Study of AMG 073 in Hemodialysis Subjects Completed NCT00527267 Phase 3
47 A Study to Evaluate the Safety of Paricalcitol Capsules in Pediatric Subjects Ages 10 to 16 With Stage 5 Chronic Kidney Disease Receiving Peritoneal Dialysis or Hemodialysis Completed NCT01382212 Phase 3
48 Sevelamer and Secondary Hyperparathyroidism in Chronic Kidney Disease Completed NCT01191762 Phase 3
49 Extension Study of Etelcalcetide in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease (CKD) on Hemodialysis Completed NCT01785875 Phase 3
50 Efficacy and Safety Study of Cinacalcet for the Treatment of Hypercalcemia in Patients With Primary Hyperparathyroidism Unable to Undergo Parathyroidectomy Completed NCT00975221 Phase 3

Search NIH Clinical Center for Hyperparathyroidism 3

Genetic Tests for Hyperparathyroidism 3

Anatomical Context for Hyperparathyroidism 3

MalaCards organs/tissues related to Hyperparathyroidism 3:

39
Bone, Kidney

Publications for Hyperparathyroidism 3

Variations for Hyperparathyroidism 3

ClinVar genetic disease variations for Hyperparathyroidism 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
2 CDC73 NM_024529.4(CDC73): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs121434264 GRCh37 Chromosome 1, 193094301: 193094301
3 CDC73 NM_024529.4(CDC73): c.131+1G> A single nucleotide variant Pathogenic rs587776558 GRCh37 Chromosome 1, 193091462: 193091462
4 MEN1 NM_130803.2(MEN1): c.1365+1G> A single nucleotide variant Pathogenic rs863223311 GRCh38 Chromosome 11, 64805033: 64805033
5 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348

Expression for Hyperparathyroidism 3

Search GEO for disease gene expression data for Hyperparathyroidism 3.

Pathways for Hyperparathyroidism 3

GO Terms for Hyperparathyroidism 3

Cellular components related to Hyperparathyroidism 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 CDC73 MEN1

Biological processes related to Hyperparathyroidism 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.16 CDC73 MEN1
2 negative regulation of epithelial cell proliferation GO:0050680 8.96 CDC73 MEN1
3 beta-catenin-TCF complex assembly GO:1904837 8.62 CDC73 MEN1

Sources for Hyperparathyroidism 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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