Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism

MalaCards integrated aliases for Hypoparathyroidism:

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


Orphanet: 58  
Rare endocrine diseases

External Ids:

Disease Ontology 12 DOID:11199
KEGG 36 H01862
ICD9CM 34 252.1
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, familial isolated, 1 and familial isolated hypoparathyroidism. An important gene associated with Hypoparathyroidism is GCM2 (Glial Cells Missing Transcription Factor 2), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. The drugs Betamethasone and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and testes, 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 631)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, familial isolated, 1 35.0 PTH GCM2 AIRE
2 familial isolated hypoparathyroidism 34.9 PTH GCM2 CASR
3 hypoparathyroidism, sensorineural deafness, and renal disease 34.9 PTH GCM2 GATA3 CASR
4 hypoparathyroidism-retardation-dysmorphism syndrome 34.9 TBCE PTH GCM2 FAM111A
5 hypoparathyroidism, x-linked 34.7 SOX3 HPT
6 autoimmune hypoparathyroidism 34.5 PRKAR1A CASR
7 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.0 CASR AIRE
8 pseudopseudohypoparathyroidism 33.1 PTHLH PTH PRKAR1A GNA11
9 digeorge syndrome 32.9 PTH GCM2 CASR AIRE
10 hypocalcemia, autosomal dominant 1 32.3 PTHLH PTH PRKAR1A GNA11 GCM2 FGF23
11 pseudohypoparathyroidism 32.0 PTHLH PTH1R PTH PRKAR1A CALCA BGLAP
12 pseudohypoparathyroidism, type ia 31.4 PTHLH PTH1R PTH PRKAR1A GNA11
13 pseudohypoparathyroidism, type ib 31.4 PTHLH PTH1R PTH BGLAP
14 hyperphosphatemia 31.3 SOX3 PTH GCM2 FGF23 CASR BGLAP
15 kenny-caffey syndrome 31.1 TBCE FAM111A
16 nephrocalcinosis 31.1 PTH GNA11 FGF23 CASR
17 nephrolithiasis 30.9 PTH FGF23 CASR BGLAP
18 hypocalciuric hypercalcemia, familial, type i 30.5 PTH GNA11 CASR
19 hypophosphatemia 30.5 PTHLH PTH1R PTH FGF23 BGLAP
20 calciphylaxis 30.5 PTH FGF23 CASR
21 kidney disease 30.4 PTH GATA3 FGF23 CASR BGLAP
22 postsurgical hypothyroidism 30.3 RET PTH
23 adenoma 30.2 RET PTH PRKAR1A CASR
24 goiter 30.1 RET CALCA BGLAP
25 idiopathic hypercalciuria 30.1 PRKAR1A CASR BGLAP
26 osteogenic sarcoma 30.0 PTHLH PTH1R PTH BGLAP
28 thyroiditis 30.0 RET CTLA4 CALCA
29 hyperthyroidism 30.0 PTH CTLA4 CALCA BGLAP ALPP
30 acrodysostosis 29.9 PTHLH PTH1R PTH PRKAR1A
31 multinodular goiter 29.7 RET PTH CALCA
32 hypothyroidism 29.7 SOX3 RET CTLA4 CALCA BGLAP AIRE
33 substernal goiter 29.6 PTH CALCA
34 multiple endocrine neoplasia, type i 29.6 RET PTH PRKAR1A CASR
35 osteitis fibrosa 29.6 PTH FGF23 CASR CALCA BGLAP
36 bone resorption disease 29.6 PTHLH PTH1R PTH FGF23 CASR CALCA
37 hypervitaminosis d 29.5 PTHLH PTH FGF23 CALCA
38 mammary paget's disease 29.5 PTH CTLA4 CALCA BGLAP
39 secondary hyperparathyroidism 29.5 SPG7 PTH1R PTH FGF23 CASR CALCA
40 hypercalcemia, infantile, 1 29.5 PTHLH PTH1R PTH CASR CALCA
41 osteomalacia 29.5 PTHLH PTH FGF23 CASR CALCA BGLAP
42 thyroid gland disease 29.5 RET PTH CTLA4 CALCA
43 familial hypocalciuric hypercalcemia 29.4 SPG7 RET PTHLH PTH GNA11 GCM2
44 bone disease 29.4 PTHLH PTH1R PTH FGF23 CASR CALCA
45 hashimoto thyroiditis 29.3 RET CTLA4 CALCA AIRE
46 renal osteodystrophy 29.3 PTH1R PTH FGF23 CASR CALCA BGLAP
47 multiple endocrine neoplasia 29.2 RET PRKAR1A CALCA
48 paget's disease of bone 29.2 PTH CALCA BGLAP ALPP
49 nodular goiter 28.9 RET CTLA4 CALCA
50 hyperparathyroidism 28.9 RET PTHLH PTH1R PTH PRKAR1A GCM2

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.36 AIRE BGLAP CASR CTLA4 FGF23 GATA3
2 growth/size/body region MP:0005378 10.27 AIRE CASR FGF23 GATA3 GNA11 PRKAR1A
3 homeostasis/metabolism MP:0005376 10.27 AIRE BGLAP CASR CTLA4 FGF23 GATA3
4 hematopoietic system MP:0005397 10.26 AIRE BGLAP CASR CTLA4 FGF23 GATA3
5 mortality/aging MP:0010768 10.25 AIRE CASR CTLA4 FGF23 GATA3 GCM2
6 immune system MP:0005387 10.21 AIRE BGLAP CASR CTLA4 FGF23 GATA3
7 digestive/alimentary MP:0005381 10.18 AIRE CASR CTLA4 FGF23 GATA3 PRKAR1A
8 craniofacial MP:0005382 10.14 GATA3 GCM2 GNA11 PRKAR1A PTH PTH1R
9 normal MP:0002873 9.97 AIRE CTLA4 GATA3 GCM2 GNA11 PRKAR1A
10 respiratory system MP:0005388 9.81 AIRE CTLA4 FGF23 GNA11 PRKAR1A PTH1R
11 renal/urinary system MP:0005367 9.8 CASR FGF23 GATA3 GCM2 GNA11 PTHLH
12 skeleton MP:0005390 9.77 BGLAP CASR CTLA4 FGF23 GATA3 GCM2
13 pigmentation MP:0001186 9.72 CASR CTLA4 GATA3 GNA11 PRKAR1A
14 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 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
Calcium carbonate Approved, Investigational Phase 4 471-34-1
Sodium citrate Approved, Investigational Phase 4 68-04-2
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
11 Respiratory System Agents Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Betamethasone acetate Phase 4
14 Antacids Phase 4
15 Anti-Ulcer Agents Phase 4
16 Citrate Phase 4
17 Ergocalciferols Phase 4
18 Vitamin D2 Phase 4
19 Pharmaceutical Solutions Phase 4
20 Lugol's solution Phase 4
21 Calcium Supplement Phase 4
22 Hormone Antagonists Phase 4
23 Calcium, Dietary Phase 4
24 Hormones Phase 4
25 Vitamins Phase 4
26 Calciferol Phase 4
27 Hydroxycholecalciferols Phase 4
28 Gastrointestinal Agents Phase 4
29 glucocorticoids Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Anesthetics Phase 4
32 BB 1101 Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34 Antiemetics Phase 4
protease inhibitors Phase 4
36 HIV Protease Inhibitors Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
41 Hemostatics Phase 3
42 Trace Elements Phase 3
43 Micronutrients Phase 3
44 Nutrients Phase 3
45 17 alpha-Hydroxyprogesterone Caproate Phase 3
46 11-hydroxyprogesterone Phase 3
47 Progestins Phase 3
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 113)
# 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 A Phase 4, Open-Label, Single-Center Clinical Study of Extended Use of rhPTH(1-84) in Hypoparathyroidism Completed NCT02910466 Phase 4 rhPTH(1-84)
5 Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment Completed NCT03969108 Phase 4 Indocyanine Green
6 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
7 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Recruiting NCT04012476 Phase 4 Indocyanine Green
8 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. Recruiting NCT03980132 Phase 4 Lugols Strong Iodine
9 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)] Active, not recruiting NCT03324880 Phase 4
10 The Impact of Preoperative Oral Dexamethasone Supplementation on the Biochemical Parameters and Results of Surgical Treatment in Patients With Nontoxic Multinodular Goiter Undergoing Total Thyroidectomy. Not yet recruiting NCT04412694 Phase 4 Dexamethasone oral tablet 8mg (Dexamethasone Krka tablets(8mg), Warsaw, Poland).;Placebo oral sweetener (Clio tablets, sweetener with a dispenser, Instantina GES, Vienna, Austria).
11 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
12 Comparison of Total Parathyroidectomy With Autotransplantation Versus Total Parathyroidectomy Without Autotransplantation:A Randomized Clinical Trial Unknown status NCT02536287 Phase 3
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 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
15 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
16 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
17 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
18 An Open-label Study Investigating the Safety and Efficacy of rhPTH(1-84) in Subjects With Hypoparathyroidism Active, not recruiting NCT03364738 Phase 3
19 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)
20 Phase II Trial of Parathyroid Hormone for the Treatment of Hypoparathyroidism Active, not recruiting NCT00856401 Phase 3 PTH1-84 in parent study
21 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
22 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)
23 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
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 Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
27 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
28 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
29 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
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 Active, not recruiting NCT04009291 Phase 2
36 Subcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Suspended 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 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
42 A Randomized, Double-Blind, Multiple Ascending Oral Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of PCO371 in Patients With Hypoparathyroidism Recruiting NCT04209179 Phase 1 PCO371;Placebo
43 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
44 Study on Application of Suturing Parathyroid Markers in Thyroid Cancer Surgery Unknown status NCT03514251
45 Corticosteroid Rhythms in Hypoparathyroid Patients Unknown status NCT02986607 Early Phase 1 parathyroid hormon 1-84
46 Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Unknown status NCT02906748
47 The Effectiveness of an Oxidized Cellulose Patch Hemostatic Agent in Thyroid Surgery: a Prospective Randomized Controlled Study Unknown status NCT01756534
48 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
49 the Study on Difference Prognostic for Low Parathyroid Hormone Levels and Severe Secondary Hyperparathyroidism in Hemodialysis Patients Unknown status NCT03194087
50 The Efficacy and Safety of Microwave Ablation for Mild-to-moderate Secondary Hyperparathyroidism Patients Undergoing Hemodialysis Unknown status NCT02332135 active vitamin D

Search NIH Clinical Center for Hypoparathyroidism

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


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:

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

Publications for Hypoparathyroidism

Articles related to Hypoparathyroidism:

(show top 50) (show all 5430)
# Title Authors PMID Year
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 54 61
20119591 2010
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. 61 54
19940031 2010
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 54 61
19580466 2010
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 54 61
20407228 2010
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. 54 61
19837919 2009
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 61 54
19659764 2009
Emerging topics in pediatric bone and mineral disorders 2008. 54 61
19615558 2009
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 54 61
19328421 2009
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. 61 54
19063686 2009
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 54 61
19248180 2009
10p12.1 deletion: HDR phenotype without DGS2 features. 61 54
19022243 2009
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. 54 61
19057839 2009
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. 61 54
18712808 2009
Novel homozygous AIRE mutation in a German patient with severe APECED. 61 54
19209622 2008
Calcium homeostasis in 40 adolescents with beta-thalassemia major: a case-control study of the effects of intramuscular injection of a megadose of cholecalciferol. 61 54
19337170 2008
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. 54 61
18768863 2008
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. 61 54
18583467 2008
Cardiovascular distribution of the calcium sensing receptor before and after burns. 61 54
17869425 2008
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 61 54
18426830 2008
[Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?]. 54 61
18624279 2008
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 54 61
18182452 2008
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 54 61
18328986 2008
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 54 61
18322283 2008
Sevelamer hydrochloride improves hyperphosphatemia in hemodialysis patients with low bone turnover rate and low intact parathyroid hormone levels. 54 61
18028171 2007
Diseases and clinical applications of the calcium sensing receptor. 54 61
17925789 2007
[Hypoparathyroidism associated with autoimmune disorder]. 54 61
17660615 2007
[Calcium-sensing receptor and hypoparathyroidism]. 54 61
17660614 2007
Cinacalcet in the management of tumor-induced osteomalacia. 61 54
17352646 2007
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. 54 61
17464094 2007
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. 61 54
17374709 2007
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
Hyperphosphatemia: effects on bone metabolism and cardiovascular risk. 54 61
17721071 2007
Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders. 61 54
17121534 2006
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
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 61 54
16912130 2006
Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. 54 61
16918956 2006
Emerging role of a phosphatonin in mineral homeostasis and its derangements. 61 54
16884396 2006
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 61 54
16509533 2006
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
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. 54 61
16697534 2006
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. 61 54
16313305 2005
Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D. 54 61
16234967 2005
[Fibroblast growth factor (FGF)-23 in patients with hypoparathyroidism]. 61 54
16272628 2005
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. 54 61
15960151 2005
Calcium-sensing receptor gene transcription is up-regulated by the proinflammatory cytokine, interleukin-1beta. Role of the NF-kappaB PATHWAY and kappaB elements. 61 54
15684428 2005
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 54 61
15705923 2005
[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease]. 54 61
16232374 2005
[Clinical use of calcimimetics in the treatment of hyperparathyroidisms]. 54 61
15525492 2004
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 54 61
15588433 2004
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 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 RET PTH GATA3 BGLAP
2 response to ethanol GO:0045471 9.73 PTH GATA3 BGLAP
3 ossification GO:0001503 9.71 PTH1R CASR BGLAP
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.62 PTHLH PTH1R PTH CALCA
5 bone mineralization GO:0030282 9.61 PTHLH PTH1R BGLAP
6 response to vitamin D GO:0033280 9.57 PTH BGLAP
7 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.52 PTH1R PTH
8 response to fibroblast growth factor GO:0071774 9.51 PTH CASR
9 cellular phosphate ion homeostasis GO:0030643 9.49 GCM2 FGF23
10 parathyroid gland development GO:0060017 9.48 GCM2 GATA3
11 phosphate ion homeostasis GO:0055062 9.46 PTH FGF23
12 osteoblast development GO:0002076 9.43 PTHLH PTH1R BGLAP
13 ureter maturation GO:0035799 9.4 RET GATA3
14 cAMP metabolic process GO:0046058 9.37 PTHLH PTH
15 skeletal system development GO:0001501 9.35 PTHLH PTH1R PTH GNA11 BGLAP
16 cellular response to vitamin D GO:0071305 9.33 FGF23 CASR BGLAP
17 cellular calcium ion homeostasis GO:0006874 9.02 PTH1R PTH GCM2 CASR CALCA

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 PTHLH PTH CALCA
2 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Hypoparathyroidism

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....