MCID: HYP024
MIFTS: 55

Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism

MalaCards integrated aliases for Hypoparathyroidism:

Name: Hypoparathyroidism 12 74 52 36 29 54 43 15 17 71 32
Syndrome with Hypoparathyroidism 58
Hypoparathyroidism, Idiopathic 52
Parathyroid, Underactivity of 52

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:11199
KEGG 36 H01862
ICD9CM 34 252.1
MeSH 43 D007011
NCIt 49 C78350
SNOMED-CT 67 36976004
ICD10 32 E20 E20.0 E20.9
Orphanet 58 ORPHA181402
UMLS 71 C0020626

Summaries for Hypoparathyroidism

KEGG : 36 Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for calcium homeostasis, vitamin D-dependant calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypocalcemic patients can present with a wide range of symptoms, including fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. The most common cause of hypoparathyroidism is iatrogenic in the setting of anterior neck surgery. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroids. Hypoparathyroidism may be further classified as isolated or syndromic. Genetic syndromes with hypoparathyroidism include DiGeorge syndrome (H01524), HDR syndrome (H01271), Kenny-Caffey syndrome (H00619), Kearns-Sayre syndrome (H01355), and so on. Isolated hypoparathyroidism has been reported as apparently sporadic, or as a familial trait with either autosomal dominant, autosomal recessive, or X chromosome-linked inheritance. Mutations in the preproPTH gene have been described in both autosomal dominant and autosomal recessive forms of familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin D analogs are critical in the treatment of hypocalcemia.

MalaCards based summary : Hypoparathyroidism, also known as syndrome with hypoparathyroidism, is related to hypoparathyroidism, sensorineural deafness, and renal disease and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Hypoparathyroidism is GCM2 (Glial Cells Missing Transcription Factor 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Presynaptic function of Kainate receptors. The drugs Betamethasone and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and heart, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Disease Ontology : 12 A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.

NIH Rare Diseases : 52 Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts , dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures , tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body.

Wikipedia : 74 Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid... more...

Related Diseases for Hypoparathyroidism

Diseases in the Hypoparathyroidism family:

Rare Hypoparathyroidism Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion
Autoimmune Hypoparathyroidism

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

(show top 50) (show all 616)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, sensorineural deafness, and renal disease 34.9 PTH GCM2 GATA3
2 hypoparathyroidism-retardation-dysmorphism syndrome 34.9 TBCE GCM2 FAM111A
3 hypoparathyroidism, familial isolated 34.9 PTH GCM2 CASR AIRE
4 hypoparathyroidism, x-linked 34.8 SOX3 HPT
5 autoimmune hypoparathyroidism 34.4 PRKAR1A CASR
6 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.0 CASR AIRE
7 pseudopseudohypoparathyroidism 33.0 PTHLH PTH PRKAR1A
8 digeorge syndrome 32.4 TBX1 PTH GCM2 CASR AIRE
9 hypocalcemia, autosomal dominant 1 32.1 PTHLH PTH PRKAR1A GCM2 FGF23 CASR
10 pseudohypoparathyroidism 31.6 PTHLH PTH1R PTH PRKAR1A CALCA BGLAP
11 pseudohypoparathyroidism, type ia 31.3 PTHLH PTH1R PTH PRKAR1A
12 pseudohypoparathyroidism, type ib 31.1 PTHLH PTH1R PTH BGLAP
13 kenny-caffey syndrome 31.0 TBCE FAM111A
14 hyperphosphatemia 30.9 SOX3 PTH GCM2 FGF23 CASR BGLAP
15 rickets 30.5 PTH FGF23 CASR BGLAP ALPP
16 hypocalciuric hypercalcemia, familial, type i 30.4 PTH CASR
17 substernal goiter 30.3 PTH GCM2
18 calciphylaxis 30.3 PTH FGF23 CASR
19 calcinosis 30.3 PTH FGF23 CALCA
20 hypophosphatemia 30.1 PTHLH PTH1R PTH FGF23 BGLAP
21 goiter 30.1 RET CALCA BGLAP
22 hypoadrenalism 30.0 PTHLH CALCA
23 adenoma 30.0 RET PTH PRKAR1A CASR
24 idiopathic hypercalciuria 29.9 PRKAR1A CASR BGLAP
25 end stage renal failure 29.9 PTH GATA3 CALCA BGLAP
26 thyroiditis 29.9 RET CTLA4 CALCA
27 chronic kidney disease 29.8 PTH FGF23 CASR BGLAP
28 acrodysostosis 29.6 PTHLH PTH1R PTH PRKAR1A
29 odontochondrodysplasia 29.6 PTHLH PTH1R PTH BGLAP
30 hyperthyroidism 29.6 PTH CTLA4 CALCA BGLAP ALPP
31 metabolic acidosis 29.6 PTH FGF23 BGLAP
32 parathyroid gland disease 29.5 TBCE RET PTHLH PTH1R PTH GCM2
33 osteogenic sarcoma 29.5 PTHLH PTH1R PTH BGLAP
34 kidney disease 29.4 RET PTH GATA3 FGF23 CTLA4 CASR
35 multiple endocrine neoplasia, type i 29.4 RET PTH PRKAR1A CASR
36 nephrolithiasis, calcium oxalate 29.4 PTHLH PTH FGF23 CASR CALCA BGLAP
37 familial hypocalciuric hypercalcemia 29.4 SPG7 RET PTHLH PTH GCM2 CASR
38 hypervitaminosis d 29.4 PTHLH PTH FGF23 CALCA
39 hypothyroidism 29.4 SOX3 RET CTLA4 CALCA BGLAP AIRE
40 osteitis fibrosa 29.3 PTH FGF23 CASR CALCA BGLAP
41 secondary hyperparathyroidism 29.3 SPG7 PTH FGF23 CASR CALCA BGLAP
42 mammary paget's disease 29.3 PTH CTLA4 CALCA BGLAP
43 hypercalcemia, infantile, 1 29.2 PTHLH PTH1R PTH CASR CALCA
44 bone resorption disease 29.2 PTHLH PTH1R PTH FGF23 CASR CALCA
45 hashimoto thyroiditis 29.1 RET CTLA4 CALCA AIRE
46 multiple endocrine neoplasia 29.1 RET PRKAR1A CALCA
47 osteomalacia 29.0 PTHLH PTH FGF23 CASR CALCA BGLAP
48 renal osteodystrophy 28.9 PTH1R PTH FGF23 CASR CALCA BGLAP
49 thyroid carcinoma, familial medullary 28.8 RET PRKAR1A CALCA
50 bone disease 28.8 PTHLH PTH1R PTH FGF23 CASR CALCA

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


Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hyperparathyroidism Hypertension, Essential
Hypothyroidism Postsurgical Hypothyroidism

Graphical network of the top 20 diseases related to Hypoparathyroidism:



Diseases related to Hypoparathyroidism

Symptoms & Phenotypes for Hypoparathyroidism

MGI Mouse Phenotypes related to Hypoparathyroidism:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.27 AIRE CASR CTLA4 FGF23 GATA3 GCM2
2 growth/size/body region MP:0005378 10.21 AIRE CASR FGF23 GATA3 PRKAR1A PTH
3 digestive/alimentary MP:0005381 10.18 AIRE CASR CTLA4 FGF23 GATA3 PRKAR1A
4 mortality/aging MP:0010768 10.17 AIRE CASR CTLA4 FGF23 GATA3 GCM2
5 hematopoietic system MP:0005397 10.14 AIRE CASR CTLA4 FGF23 GATA3 PRKAR1A
6 immune system MP:0005387 10.11 AIRE CASR CTLA4 FGF23 GATA3 PRKAR1A
7 craniofacial MP:0005382 10.1 GATA3 GCM2 PRKAR1A PTH PTH1R PTHLH
8 normal MP:0002873 9.86 AIRE CTLA4 GATA3 GCM2 PRKAR1A PTHLH
9 respiratory system MP:0005388 9.81 AIRE CTLA4 FGF23 PRKAR1A PTH1R PTHLH
10 skeleton MP:0005390 9.73 CASR CTLA4 FGF23 GATA3 GCM2 PRKAR1A
11 vision/eye MP:0005391 9.23 AIRE CASR GATA3 PRKAR1A PTH PTH1R

Drugs & Therapeutics for Hypoparathyroidism

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

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
3
Calcium carbonate Approved, Investigational Phase 4 471-34-1
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Iodine Approved, Investigational Phase 4 7553-56-2 807
6
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Respiratory System Agents Phase 4
11 Anti-Asthmatic Agents Phase 4
12 Betamethasone benzoate Phase 4
13 Betamethasone Valerate Phase 4 2152-44-5
14 Betamethasone sodium phosphate Phase 4
15 Betamethasone-17,21-dipropionate Phase 4
16 Betamethasone acetate Phase 4
17 Hormones Phase 4
18 Calcium, Dietary Phase 4
19 Vitamins Phase 4
20 Vitamin D2 Phase 4
21 Ergocalciferols Phase 4
22 Calciferol Phase 4
23 Calcium Supplement Phase 4
24 Gastrointestinal Agents Phase 4
25 Anti-Ulcer Agents Phase 4
26 Antacids Phase 4
27 Citrate Phase 4
28 Chelating Agents Phase 4
29 Anticoagulants Phase 4
30 Pharmaceutical Solutions Phase 4
31 Hemostatics Phase 4
32 Coagulants Phase 4
33 Lugol's solution Phase 4
34 cadexomer iodine Phase 4
35
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
36
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
37
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
38 Hormone Antagonists Phase 3
39 11-hydroxyprogesterone Phase 3
40 17 alpha-Hydroxyprogesterone Caproate Phase 3
41 Progestins Phase 3
42
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
43
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
44
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
45
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
46
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
47
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
48
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
49
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
50 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1

Interventional clinical trials:

(show top 50) (show all 105)
# Name Status NCT ID Phase Drugs
1 Evaluation of Potential Benefits of Using Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
2 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
3 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
4 A Randomized, Double-blind, Placebo-controlled, Adaptive Study to Evaluate Symptom Improvement and Metabolic Control Among Adult Subjects With Symptomatic Hypoparathyroidism Treated With Recombinant Human Parathyroid Hormone [rhPTH(1-84)] Recruiting NCT03324880 Phase 4
5 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Recruiting NCT04012476 Phase 4 Indocyanine Green
6 Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment Recruiting NCT03969108 Phase 4 Indocyanine Green
7 A Phase 4, Open-Label, Single-Center Clinical Study of Extended Use of rhPTH(1-84) in Hypoparathyroidism Active, not recruiting NCT02910466 Phase 4 rhPTH(1-84)
8 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Not yet recruiting NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
9 Randomized Clinical Trial, Blinded for the Researcher and Multicenter, to Evaluate the Efficacy and Safety of Preoperative Preparation With Lugol Solution in Euthyroid Patients With Graves-Basedow Disease. Not yet recruiting NCT03980132 Phase 4 Lugols Strong Iodine
10 Medico-economic Evaluation Comparing the Use of Ultrasonic Scissors to the Conventional Techniques of Haemostasis in Thyroid Surgery by Cervicotomy Unknown status NCT01551914 Phase 3
11 Comparison of Total Parathyroidectomy With Autotransplantation Versus Total Parathyroidectomy Without Autotransplantation:A Randomized Clinical Trial Unknown status NCT02536287 Phase 3
12 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study to Investigate the Use of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH[1-84]) for the Treatment of Adults With Hypoparathyroidism Completed NCT00732615 Phase 3 Placebo;NPSP558
13 A Long-term Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH[1-84]), for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study (RACE) Completed NCT01297309 Phase 3 NPSP558
14 A 6-Month Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH [1-84]), for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study Completed NCT01455181 Phase 3 NPSP558
15 A Randomized, Dose-blinded Study to Investigate the Safety and Efficacy of NPSP558, a Recombinant Human Parathyroid Hormone [rhPTH(1-84)], at Fixed Doses of 25 µg and 50 µg for the Treatment of Adults With Hypoparathyroidism Completed NCT01268098 Phase 3 NPSP558
16 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
17 An Open-label Study Investigating the Safety and Efficacy of rhPTH(1-84) in Subjects With Hypoparathyroidism Active, not recruiting NCT03364738 Phase 3
18 HEXT: The Hypoparathyroidism Studies, EXTended: The Effect of PTH on the Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3 open-label PTH(1-84)
19 Phase II Trial of Parathyroid Hormone for the Treatment of Hypoparathyroidism Active, not recruiting NCT00856401 Phase 3 PTH1-84 in parent study
20 Randomized Controlled Trial of Neo-adjuvant Progesterone and Vitamin D3 in Women With Large Operable Breast Cancer and Locally Advanced Breast Cancer. Active, not recruiting NCT01608451 Phase 3 Cholecalciferol;Inj. Progesterone
21 A Phase 3, Open-label Clinical Study of rhPTH(1-84) Treatment in Japanese Subjects With Chronic Hypoparathyroidism Not yet recruiting NCT03878953 Phase 3 rhPTH(1-84)
22 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
23 To Investigate the Traditional Chinese Medicine Formula Powder Product in the Treatment of Osteopenia Unknown status NCT03245710 Phase 2 Placebos;Zhibai Dihuang powder
24 A Pilot Study to Assess the Safety and Efficacy of Oral PTH (1-34) in the Treatment of Hypoparathyroidism Completed NCT02152228 Phase 2 EnteraBio's Oral Parathyroid Hormone (1-34)
25 An Evaluation of the Pharmacokinetics and Pharmacodynamics of Oral Parathyroid Hormone [PTH (1-34)] and NATPARA® in Patients With Hypoparathyroidism Completed NCT03516773 Phase 2 EB612 (EBP05);NATPARA/NATPAR
26 Treatment of Hypoparathyroidism With Subcutaneous PTH (1-84) Injections: Effects on Muscle Function and Quality of Life Completed NCT00730210 Phase 2 a: PTH (1-84);b:placebo
27 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
28 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
29 Open-label Dose Escalation Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Intravenous NPSP795 in Autosomal Dominant Hypocalcemia Due to Mutations in the Calcium-sensing Receptor Gene: A Drug Repurposing Study Completed NCT02204579 Phase 2 NPSP795
30 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
31 Development of a Clinical Protocol to Use Intra-operative Near Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
32 A Randomized, Two Phase, Adaptive Then Crossover Open-label, Study Comparing Amorphous Calcium Carbonate (ACC) Supplement Versus Commercially Available Crystalline Calcium Supplements (CCS) in the Management of Primary Hypoparathyroidism. Completed NCT01815021 Phase 1, Phase 2
33 Randomized Controlled Trial of Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in Patients With Low-risk Papillary Thyroid Cancer Completed NCT02408887 Phase 2
34 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
35 PaTH Forward: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Trial With an Open-Label Extension, Investigating the Safety, Tolerability and Efficacy of TransCon PTH Administered Subcutaneously Daily in Adults With Hypoparathyroidism Recruiting NCT04009291 Phase 2
36 Subcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Not yet recruiting NCT03582800 Phase 2 STS
37 Pilot Study of Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
38 Effect of Denosumab in Reversing Periprosthetic Bone Loss Following Hip Replacement Unknown status NCT02444585 Phase 1 Denosumab
39 A Phase 1, Open-label, Randomized, Cross-over Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of a Single Dose of rhPTH(1-84) Administered Subcutaneously in Japanese Healthy Subjects Compared With Matched Non-Hispanic, Caucasian Healthy Adult Subjects and to Assess Dose Proportionality of 3 Doses of rhPTH(1-84) in the Japanese Subjects Completed NCT03150108 Phase 1 rhPTH(1-84);rhPTH(1-84);rhPTH(1-84)
40 An Open-Label, Randomized, Crossover Study to Assess the Pharmacokinetic and Pharmacodynamic Profiles of Once Daily and Twice Daily Dose Regimens of Recombinant Human Parathyroid Hormone (rhPTH[1-84]) Administered Subcutaneously to Subjects With Hypoparathyroidism Completed NCT02781844 Phase 1 25mcg rhPTH(1-84);50mcg rhPTH(1-84);100mcg rhPTH(1-84)
41 Evaluation of Fluorescence Imaging in Head and Neck Cancer Recruiting NCT03297957 Phase 1 IC-GREEN
42 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Active, not recruiting NCT00566488 Phase 1
43 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
44 Corticosteroid Rhythms in Hypoparathyroid Patients Unknown status NCT02986607 Early Phase 1 parathyroid hormon 1-84
45 Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Unknown status NCT02906748
46 The Effectiveness of an Oxidized Cellulose Patch Hemostatic Agent in Thyroid Surgery: a Prospective Randomized Controlled Study Unknown status NCT01756534
47 Comparative Analysis Between A Bipolar Vessel Sealing and Cutting Device and the Tie and Suture Technique in Thyroidectomy: A Two Institution Randomized Clinical Trial Unknown status NCT02140476
48 the Study on Difference Prognostic for Low Parathyroid Hormone Levels and Severe Secondary Hyperparathyroidism in Hemodialysis Patients Unknown status NCT03194087
49 The Efficacy and Safety of Microwave Ablation for Mild-to-moderate Secondary Hyperparathyroidism Patients Undergoing Hemodialysis Unknown status NCT02332135 active vitamin D
50 Diagnostic Value of Immediate Postoperative Dose of Parathyroid Hormone as a Marker for the Occurrence of Hypoparathyroidism After Total Thyroidectomy: A Retrospective Observational Study Completed NCT02924532

Search NIH Clinical Center for Hypoparathyroidism

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Ergocalciferol

Cochrane evidence based reviews: hypoparathyroidism

Genetic Tests for Hypoparathyroidism

Genetic tests related to Hypoparathyroidism:

# Genetic test Affiliating Genes
1 Hypoparathyroidism 29

Anatomical Context for Hypoparathyroidism

MalaCards organs/tissues related to Hypoparathyroidism:

40
Thyroid, Bone, Heart, Kidney, Testes, Lymph Node, Breast

Publications for Hypoparathyroidism

Articles related to Hypoparathyroidism:

(show top 50) (show all 5328)
# Title Authors PMID Year
1
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. 54 61
19940031 2010
2
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 54 61
20119591 2010
3
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 54 61
20407228 2010
4
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 54 61
19580466 2010
5
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. 54 61
19837919 2009
6
Emerging topics in pediatric bone and mineral disorders 2008. 54 61
19615558 2009
7
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 54 61
19659764 2009
8
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 54 61
19328421 2009
9
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. 54 61
19063686 2009
10
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 54 61
19248180 2009
11
10p12.1 deletion: HDR phenotype without DGS2 features. 54 61
19022243 2009
12
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. 54 61
19057839 2009
13
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. 54 61
18712808 2009
14
Calcium homeostasis in 40 adolescents with beta-thalassemia major: a case-control study of the effects of intramuscular injection of a megadose of cholecalciferol. 54 61
19337170 2008
15
Novel homozygous AIRE mutation in a German patient with severe APECED. 54 61
19209622 2008
16
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. 54 61
18583467 2008
17
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. 54 61
18768863 2008
18
Cardiovascular distribution of the calcium sensing receptor before and after burns. 54 61
17869425 2008
19
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 54 61
18426830 2008
20
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 54 61
18182452 2008
21
[Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?]. 54 61
18624279 2008
22
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 54 61
18328986 2008
23
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 54 61
18322283 2008
24
Sevelamer hydrochloride improves hyperphosphatemia in hemodialysis patients with low bone turnover rate and low intact parathyroid hormone levels. 54 61
18028171 2007
25
Diseases and clinical applications of the calcium sensing receptor. 54 61
17925789 2007
26
[Calcium-sensing receptor and hypoparathyroidism]. 54 61
17660614 2007
27
[Hypoparathyroidism associated with autoimmune disorder]. 54 61
17660615 2007
28
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. 54 61
17464094 2007
29
Cinacalcet in the management of tumor-induced osteomalacia. 54 61
17352646 2007
30
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. 54 61
17374709 2007
31
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. 54 61
17210674 2007
32
Hyperphosphatemia: effects on bone metabolism and cardiovascular risk. 54 61
17721071 2007
33
Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders. 54 61
17121534 2006
34
Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. 54 61
16983178 2006
35
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 54 61
16912130 2006
36
Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. 54 61
16918956 2006
37
Emerging role of a phosphatonin in mineral homeostasis and its derangements. 54 61
16884396 2006
38
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 54 61
16509533 2006
39
Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney. 54 61
16319112 2006
40
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. 54 61
16697534 2006
41
Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism. 54 61
16313305 2005
42
Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D. 54 61
16234967 2005
43
[Fibroblast growth factor (FGF)-23 in patients with hypoparathyroidism]. 54 61
16272628 2005
44
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. 54 61
15960151 2005
45
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 54 61
15705923 2005
46
Calcium-sensing receptor gene transcription is up-regulated by the proinflammatory cytokine, interleukin-1beta. Role of the NF-kappaB PATHWAY and kappaB elements. 54 61
15684428 2005
47
[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease]. 54 61
16232374 2005
48
[Clinical use of calcimimetics in the treatment of hyperparathyroidisms]. 54 61
15525492 2004
49
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 54 61
15588433 2004
50
Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. 54 61
15472173 2004

Variations for Hypoparathyroidism

Expression for Hypoparathyroidism

Search GEO for disease gene expression data for Hypoparathyroidism.

Pathways for Hypoparathyroidism

GO Terms for Hypoparathyroidism

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 RET PTH GATA3 BGLAP
2 skeletal system development GO:0001501 9.76 PTHLH PTH1R PTH BGLAP
3 response to ethanol GO:0045471 9.75 PTH GATA3 BGLAP
4 ossification GO:0001503 9.71 PTH1R CASR BGLAP
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.62 PTHLH PTH1R PTH CALCA
6 bone mineralization GO:0030282 9.61 PTHLH PTH1R BGLAP
7 pharyngeal system development GO:0060037 9.57 TBX1 GATA3
8 response to vitamin D GO:0033280 9.56 PTH BGLAP
9 cellular calcium ion homeostasis GO:0006874 9.56 PTH1R PTH GCM2 CASR
10 response to fibroblast growth factor GO:0071774 9.52 PTH CASR
11 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.51 PTH1R PTH
12 cellular phosphate ion homeostasis GO:0030643 9.49 GCM2 FGF23
13 phosphate ion homeostasis GO:0055062 9.48 PTH FGF23
14 ureter maturation GO:0035799 9.4 RET GATA3
15 cAMP metabolic process GO:0046058 9.37 PTHLH PTH
16 osteoblast development GO:0002076 9.33 PTHLH PTH1R BGLAP
17 cellular response to vitamin D GO:0071305 9.13 FGF23 CASR BGLAP
18 parathyroid gland development GO:0060017 8.8 TBX1 GCM2 GATA3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 TBX1 TBCE SPG7 RET PTHLH PTH1R
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 TBX1 SOX3 PTH GCM2 GATA3 AIRE
3 hormone activity GO:0005179 9.33 PTHLH PTH CALCA
4 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Hypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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