HRPT1
MCID: HYP615
MIFTS: 56

Hyperparathyroidism, Familial Primary (HRPT1) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hyperparathyroidism, Familial Primary

Aliases & Descriptions for Hyperparathyroidism, Familial Primary:

Name: Hyperparathyroidism, Familial Primary 54 13
Hyperparathyroidism 1 54 24 66 29 69
Hyperparathyroidism, Primary 50 29 42 69
Primary Hyperparathyroidism 12 50 14
Familial Benign Hypercalcemia 12 69
Hrpt1 24 66
Fihp 24 66
Hyperparathyroidism, Familial, Isolated, Primary 66
Hypocalciuric Hypercalcemia, Familial, Type 1 69
Familial Isolated Primary Hyperparathyroidism 24
Familial Isolated Hyperparathyroidism 66
Familial Primary Hyperparathyroidism 12
Parathyroid Adenoma, Familial 69
Familial Parathyroid Adenoma 56
Familial Hyperparathyroidism 69
Hyperparathyroidism Primary 52
Hyperparathyroidism 3 69

Characteristics:

HPO:

32
hyperparathyroidism, familial primary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 145000
Disease Ontology 12 DOID:11202
ICD10 33 E21.0 E21.3
ICD9CM 35 252.01
MeSH 42 D049950
NCIt 47 C48280
Orphanet 56 ORPHA99877
MESH via Orphanet 43 C564166
UMLS via Orphanet 70 C1840403
ICD10 via Orphanet 34 E21.0
MedGen 40 C1840402

Summaries for Hyperparathyroidism, Familial Primary

NIH Rare Diseases : 50 hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (pth). signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. with more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. patients may have thinning of the bones without symptoms, but with risk of fractures. there are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. surgery to remove the parathyroid gland(s) is the main treatment for the disorder. some patients with mild disease do not require treatment. last updated: 4/2/2012

MalaCards based summary : Hyperparathyroidism, Familial Primary, also known as hyperparathyroidism 1, is related to cdc73-related familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome, and has symptoms including osteopenia, renal insufficiency and hypophosphatemia. An important gene associated with Hyperparathyroidism, Familial Primary is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Signaling by GPCR and Presynaptic function of Kainate receptors. The drugs Benzocaine and Sevelamer have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Hyperparathyroidism 1: An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.

Wikipedia : 71 Primary hyperparathyroidism is usually caused by a tumor within the parathyroid gland. The symptoms of... more...

Description from OMIM: 145000

Related Diseases for Hyperparathyroidism, Familial Primary

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism, Familial Primary Hyperparathyroidism 3

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

(show top 50) (show all 107)
id Related Disease Score Top Affiliating Genes
1 cdc73-related familial isolated hyperparathyroidism 12.0
2 hyperparathyroidism-jaw tumor syndrome 11.9
3 hyperparathyroidism, primary, caused by water clear cell hyperplasia 11.9
4 familial hypocalciuric hypercalcemia 11.6
5 hypocalciuric hypercalcemia, type i 11.3
6 hypocalciuric hypercalcemia, familial, type iii 11.3
7 hypocalciuric hypercalcemia, type ii 11.2
8 hyperparathyroidism 3 11.1
9 macular holes 10.3 MEN1 PTH
10 restless legs syndrome 7 10.3 CDC73 MEN1
11 primary release disorder of platelets 10.3 BGLAP PTHLH
12 hypochondrogenesis 10.3 BGLAP PTH
13 stickler syndrome 10.3 CALCA PTH
14 cerebrooculofacioskeletal syndrome 4 10.3 CASR PTHLH
15 familial chronic myelocytic leukemia-like syndrome 10.3 CASR CDC73 PTH
16 macrocephaly/megalencephaly syndrome, autosomal recessive 10.3 GCM2 PTH
17 pemphigus foliaceus 10.3 CALCA MEN1
18 immune system organ benign neoplasm 10.3 CDC73 MEN1 PTH
19 strabismus 10.2 MEN1 PTH PTHLH
20 toxicodendron dermatitis 10.2 BGLAP PTH PTHLH
21 paranasal sinus cancer, adult 10.2 CALCA MEN1
22 striatonigral degeneration 10.2 CASR PTH
23 gastrinoma 10.2 CALCA RET
24 hypophosphatasia, adult 10.2 BGLAP CALCA PTH
25 jessner's lymphocytic infiltration of the skin 10.2 CASR PRKAR1A
26 ovarian endometrioid cystadenoma 10.2 CALCA PTH PTHLH
27 eiken syndrome 10.2 PTH PTH1R
28 hirschsprung disease 1 10.2 CALCA MEN1 RET
29 epilepsy idiopathic generalized 8 10.2 CASR PRKAR1A
30 binocular vision disease 10.2 PTH1R PTHLH
31 y chromosome detection 10.2 BGLAP PTH VDR
32 atrial heart septal defect 10.2 CALCA PTH
33 bile duct mucoepidermoid carcinoma 10.2 CASR PTH VDR
34 mixed germ cell cancer 10.2 PTH PTHLH
35 malignant granular cell myoblastoma 10.1 CHGA PTH PTHLH
36 malignant adult ependymoma 10.1 BGLAP PTH1R PTHLH
37 uterine ligament cancer 10.1 MEN1 PRKAR1A
38 mesenchymal cell neoplasm 10.1 BGLAP CALCA CASR PTH
39 progressive locomotor ataxia 10.1 FGF23 PTHLH
40 vulvovaginitis 10.1 BGLAP PTH1R PTHLH
41 cardioauditory syndrome of sanchez cascos 10.1 CALCA CHGA MEN1
42 chromosomal disease 10.1 ACP5 BGLAP PTH
43 orbit lymphoma 10.1 FGF23 PTH
44 opthalmoplegia mental retardation lingua scrotalis 10.1 FGF23 PTH PTHLH
45 pancreas adenocarcinoma 10.1 ACP5 BGLAP PTH
46 t-cell large granular lymphocyte leukemia 10.1 MEN1 PRKAR1A RET
47 urinary tract papillary transitional cell benign neoplasm 10.1 CALCA CHGA RET
48 erythrocytosis, familial, 2 10.1 CHGA MEN1 RET
49 prediabetes syndrome 10.1 BGLAP FGF23 PTH
50 epilepsy, idiopathic generalized 14 10.1 BGLAP FGF23

Graphical network of the top 20 diseases related to Hyperparathyroidism, Familial Primary:



Diseases related to Hyperparathyroidism, Familial Primary

Symptoms & Phenotypes for Hyperparathyroidism, Familial Primary

Symptoms by clinical synopsis from OMIM:

145000

Clinical features from OMIM:

145000

Human phenotypes related to Hyperparathyroidism, Familial Primary:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 56 32 Occasional (29-5%) HP:0000938
2 renal insufficiency 56 32 Very rare (<4-1%) HP:0000083
3 hypophosphatemia 56 32 Frequent (79-30%) HP:0002148
4 hypercalciuria 56 32 Frequent (79-30%) HP:0002150
5 left ventricular hypertrophy 56 32 Frequent (79-30%) HP:0001712
6 mitral valve calcification 56 32 Frequent (79-30%) HP:0004382
7 nephrocalcinosis 56 32 Very rare (<4-1%) HP:0000121
8 recurrent fractures 56 32 Very rare (<4-1%) HP:0002757
9 parathyroid adenoma 56 32 Very frequent (99-80%) HP:0002897
10 hypercalcemia 56 32 Frequent (79-30%) HP:0003072
11 elevated circulating parathyroid hormone level 56 32 Frequent (79-30%) HP:0003165
12 parathyroid hyperplasia 56 32 Very frequent (99-80%) HP:0008208
13 aortic valve calcification 56 32 Frequent (79-30%) HP:0004380
14 parathyroid carcinoma 56 32 Very rare (<4-1%) HP:0006780
15 hyperphosphaturia 56 32 Frequent (79-30%) HP:0003109
16 elevated alkaline phosphatase of bone origin 56 32 Occasional (29-5%) HP:0010639
17 generalized osteoporosis 56 32 Occasional (29-5%) HP:0040160
18 primary hyperparathyroidism 56 32 Obligate (100%) HP:0008200
19 calcium nephrolithiasis 56 32 Occasional (29-5%) HP:0004724
20 polyarticular chondrocalcinosis 56 32 Very rare (<4-1%) HP:0005017

MGI Mouse Phenotypes related to Hyperparathyroidism, Familial Primary:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.2 CASR CDC73 CHGA FGF23 GCM2 MEN1
2 homeostasis/metabolism MP:0005376 10.18 VDR CASR CDC73 CHGA FGF23 GCM2
3 growth/size/body region MP:0005378 10.17 VDR CASR CDC73 CHGA FGF23 MEN1
4 cardiovascular system MP:0005385 10.16 CDC73 CHGA FGF23 MEN1 PRKAR1A PTH
5 digestive/alimentary MP:0005381 10.13 CASR CDC73 FGF23 MEN1 PRKAR1A PTH1R
6 craniofacial MP:0005382 10.04 GCM2 MEN1 PRKAR1A PTH PTH1R PTHLH
7 mortality/aging MP:0010768 10.03 CASR CDC73 CHGA FGF23 GCM2 MEN1
8 immune system MP:0005387 10.02 CASR CDC73 FGF23 MEN1 PRKAR1A PTH
9 limbs/digits/tail MP:0005371 9.8 PTHLH RET VDR FGF23 PTH PTH1R
10 renal/urinary system MP:0005367 9.76 CASR CDC73 CHGA FGF23 GCM2 PTHLH
11 reproductive system MP:0005389 9.56 CDC73 CHGA FGF23 MEN1 PRKAR1A PTHLH
12 skeleton MP:0005390 9.23 CASR FGF23 GCM2 PRKAR1A PTH PTH1R

Drugs & Therapeutics for Hyperparathyroidism, Familial Primary

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

(show top 50) (show all 177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
2
Sevelamer Approved Phase 4,Phase 3,Phase 2 52757-95-6, 152751-57-0 3085017
3
Denosumab Approved Phase 4,Phase 3 615258-40-7
4
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
5 Strontium ranelate Approved Phase 4 135459-87-9
6
Calcium carbonate Approved Phase 4,Phase 3,Phase 2 471-34-1
7
Zoledronic acid Approved Phase 4 118072-93-8 68740
8
Iron Approved Phase 4 7439-89-6 23925
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
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
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
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
17
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
18
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
19 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Calcimimetic Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Cinacalcet Hydrochloride Phase 4,Phase 2,Phase 3,Phase 1
23 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
25 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
27 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 vitamin d Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
30 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
31 1 alpha-hydroxyergocalciferol Phase 4,Phase 3,Phase 2
32 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Calcifediol Phase 4,Phase 3 19356-17-3
34 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
35 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
36 Antimetabolites Phase 4,Phase 2
37 Hypolipidemic Agents Phase 4,Phase 2
38 Lipid Regulating Agents Phase 4,Phase 2
39 Hydroxycholecalciferols Phase 4,Phase 3,Phase 2
40 Antibodies Phase 4,Phase 3
41 Immunoglobulin A Phase 4,Phase 3
42 Immunoglobulins Phase 4,Phase 3
43 Antacids Phase 4,Phase 3,Phase 2
44 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2
45 Diphosphonates Phase 4
46 Antihypertensive Agents Phase 4
47 Dihydroxycholecalciferols Phase 4,Phase 2
48 Epoetin alfa Phase 4 113427-24-0
49 Hematinics Phase 4
50
Angiotensin II Phase 4 68521-88-0, 11128-99-7 65143 172198

Interventional clinical trials:

(show top 50) (show all 208)
id Name Status NCT ID Phase
1 Cinacalcet in Management of Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4
2 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4
3 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Unknown status NCT00288873 Phase 4
4 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4
5 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4
6 Efficacy of Cinacalcet in the Control of Primary Hyperparathyroidism Completed NCT02417389 Phase 4
7 Systematic Treatment After Successful Surgical Treatment for Primary Hyperparathyroidism With Strontium Ranelate Completed NCT01222026 Phase 4
8 Evaluation of a Cincalcet Suppression Test Completed NCT01103206 Phase 4
9 A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer Completed NCT00037518 Phase 4
10 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4
11 Initial Dosing of Paricalcitol in Secondary Hyperparathyroidism Completed NCT00307840 Phase 4
12 Cincalcet and Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4
13 Treatment Adhesion in Dialysis Patients Treated With Cinacalcet Completed NCT01573520 Phase 4
14 Calcitriol in the Treatment of Immunoglobulin A (IgA) Nephropathy Completed NCT00319761 Phase 4
15 Trial to Optimize Mineral Outcomes in Dialysis Patients Completed NCT01100723 Phase 4
16 Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT) Completed NCT00823303 Phase 4
17 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4
18 Cinacalcet stUdy for Peritoneal Dialysis Patients In Double Arm on the Lowing Effect OF iPTH Level Completed NCT01101113 Phase 4
19 Paricalcitol Effect on Anemia in CKD Completed NCT01768351 Phase 4
20 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Kidney Transplantation. Completed NCT01939977 Phase 4
21 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4
22 Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium Completed NCT00073710 Phase 4
23 Effect of Phosphate Binders on FGF-23 With Concurrent Calcitriol Completed NCT01748396 Phase 4
24 The Study of Efficacy and Safety of REGPARA Drug in Dialysis Patients Have High Blood Levels of Parathyroid Completed NCT02056730 Phase 4
25 How Vitamin D Analogues Affect Endothelial Cells in Patients on Dialysis Completed NCT00528788 Phase 4
26 Vitamin D and Coronary Calcification Study Completed NCT00752102 Phase 4
27 Study of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease Completed NCT00395382 Phase 4
28 Efficacy of Vitamin D2 to Treat Chronic Kidney Disease Mineral and Bone Disorder Completed NCT01633853 Phase 4
29 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4
30 Paricalcitol Improves Anemia of Inflammation Recruiting NCT02876211 Phase 4
31 Physiologic Interactions Between the Adrenal- and the Parathyroid Glands Recruiting NCT02572960 Phase 4
32 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Recruiting NCT02238418 Phase 4
33 Intravenous Paricalcitol in Chronic Hemodialysis Patients Active, not recruiting NCT03023748 Phase 4
34 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients Not yet recruiting NCT03182699 Phase 4
35 The Efficacy of Niacin on Hyperphosphatemia in Patients Undergoing Haemodialysis Not yet recruiting NCT03163576 Phase 4
36 Efficacy and Safety of Cinacalcet in Ca, P and iPTH Levels in Patients With Mild, Moderate and Severe SHPT Not yet recruiting NCT03123406 Phase 4
37 Efficacy and Safety of Paricalcitol on the Treatment of Secondary Hyperparathyroidism in Calcitriol Resistant Dialysis Subjects Terminated NCT00664430 Phase 4
38 Mineral Metabolism and Vascular Effects of Vitamin D Therapy in Kidney Transplant Patients Terminated NCT00646282 Phase 4
39 Cinacalcet for Secondary Hyperparathyroidism in Patients Receiving Hemodialysis Terminated NCT00446329 Phase 4
40 Active Vitamin D Effect on Left Ventricular Hypertrophy Terminated NCT00175149 Phase 4
41 Management of Mineral and Bone Disease in Hemodialysis-Calcitriol vs. Paricalcitol Terminated NCT01725113 Phase 4
42 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4
43 Vitamin D and Carboxy PTH Fragments in Coronary Calcification Withdrawn NCT00502268 Phase 4
44 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
45 Cinacalcet in Paediatric Secondary Hyperparathyroidism (SHPT) Due to Chronic Kidney Disease (CKD) Unknown status NCT01479088 Phase 2, Phase 3
46 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3
47 Efficacy and Safety Study of Cinacalcet for the Treatment of Hypercalcemia in Patients With Primary Hyperparathyroidism Unable to Undergo Parathyroidectomy Completed NCT00975221 Phase 3
48 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3
49 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
50 An Intra-individual Titration Study of KRN1493 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism Completed NCT01460030 Phase 3

Search NIH Clinical Center for Hyperparathyroidism, Familial Primary

Cochrane evidence based reviews: hyperparathyroidism, primary

Genetic Tests for Hyperparathyroidism, Familial Primary

Genetic tests related to Hyperparathyroidism, Familial Primary:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 1 29 24 MEN1
2 Primary Hyperparathyroidism 29

Anatomical Context for Hyperparathyroidism, Familial Primary

MalaCards organs/tissues related to Hyperparathyroidism, Familial Primary:

39
Bone, Kidney

Publications for Hyperparathyroidism, Familial Primary

Variations for Hyperparathyroidism, Familial Primary

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism, Familial Primary:

66
id Symbol AA change Variation ID SNP ID
1 CDC73 p.Leu64Pro VAR_024082 rs121434264

ClinVar genetic disease variations for Hyperparathyroidism, Familial Primary:

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 PTH NM_000315.3(PTH): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs6256 GRCh37 Chromosome 11, 13514053: 13514053
5 MEN1 NM_130803.2(MEN1): c.1365+1G> A single nucleotide variant Pathogenic rs863223311 GRCh38 Chromosome 11, 64805033: 64805033
6 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348
7 MEN1 NM_130799.2(MEN1): c.152delA (p.Asn51Thrfs) deletion Pathogenic rs869312167 GRCh38 Chromosome 11, 64809958: 64809958
8 CDKN1B NM_004064.4(CDKN1B): c.-80C> T single nucleotide variant Pathogenic rs551236750 GRCh37 Chromosome 12, 12870694: 12870694
9 CDC73 NM_024529.4(CDC73): c.132-2A> G single nucleotide variant Likely pathogenic rs1057519419 GRCh38 Chromosome 1, 193125110: 193125110

Expression for Hyperparathyroidism, Familial Primary

Search GEO for disease gene expression data for Hyperparathyroidism, Familial Primary.

Pathways for Hyperparathyroidism, Familial Primary

GO Terms for Hyperparathyroidism, Familial Primary

Cellular components related to Hyperparathyroidism, Familial Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 BGLAP CALCA CHGA FGF23 PTH PTHLH
2 receptor complex GO:0043235 9.13 PTH1R RET VDR

Biological processes related to Hyperparathyroidism, Familial Primary according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.88 CDC73 MEN1 PTH1R PTHLH VDR
2 skeletal system development GO:0001501 9.72 BGLAP PTH PTH1R PTHLH VDR
3 ossification GO:0001503 9.71 BGLAP CASR PTH1R
4 vasodilation GO:0042311 9.6 CALCA CASR
5 decidualization GO:0046697 9.59 MEN1 VDR
6 response to vitamin D GO:0033280 9.58 BGLAP PTH
7 regulation of bone mineralization GO:0030500 9.58 BGLAP FGF23
8 bone resorption GO:0045453 9.58 ACP5 PTH PTH1R
9 response to pain GO:0048265 9.57 CALCA RET
10 negative regulation of chondrocyte differentiation GO:0032331 9.56 PTH PTHLH
11 positive regulation of cAMP biosynthetic process GO:0030819 9.56 CALCA PTH PTHLH SCT
12 positive regulation of ossification GO:0045778 9.55 CALCA PTH
13 cellular response to vitamin D GO:0071305 9.54 BGLAP CASR FGF23
14 cellular phosphate ion homeostasis GO:0030643 9.52 FGF23 GCM2
15 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.51 PTH PTH1R
16 response to fibroblast growth factor GO:0071774 9.49 CASR PTH
17 cAMP metabolic process GO:0046058 9.46 PTH PTHLH
18 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.46 CALCA PTH PTH1R PTHLH
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 FGF23 VDR
20 osteoblast development GO:0002076 9.26 BGLAP MEN1 PTH1R PTHLH
21 cellular calcium ion homeostasis GO:0006874 9.1 CALCA CASR GCM2 PTH PTH1R VDR

Molecular functions related to Hyperparathyroidism, Familial Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.33 MEN1 PTH SCT
2 peptide hormone receptor binding GO:0051428 8.96 PTH PTHLH
3 hormone activity GO:0005179 8.92 CALCA PTH PTHLH SCT

Sources for Hyperparathyroidism, Familial Primary

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
Content
Loading form....