MCID: HYP024
MIFTS: 56

Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism

MalaCards integrated aliases for Hypoparathyroidism:

Name: Hypoparathyroidism 12 75 53 37 29 55 44 15 17 72 33
Syndrome with Hypoparathyroidism 59
Hypoparathyroidism, Idiopathic 53
Parathyroid, Underactivity of 53

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:11199
KEGG 37 H01862
ICD9CM 35 252.1
MeSH 44 D007011
NCIt 50 C78350
SNOMED-CT 68 36976004
ICD10 33 E20 E20.0 E20.9
Orphanet 59 ORPHA181402
UMLS 72 C0020626

Summaries for Hypoparathyroidism

KEGG : 37
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-retardation-dysmorphism syndrome and hypoparathyroidism, familial isolated. An important gene associated with Hypoparathyroidism is GCM2 (Glial Cells Missing Transcription Factor 2), and among its related pathways/superpathways are G alpha (s) signalling events and Endochondral Ossification. The drugs Betamethasone and Parathyroid hormone 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 : 53 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 : 75 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 606)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism-retardation-dysmorphism syndrome 34.6 TBCE PTH FAM111A
2 hypoparathyroidism, familial isolated 34.3 PTH GCM2 CASR AIRE
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.0 CASR AIRE
4 hypocalcemia, autosomal dominant 1 33.2 PTH GCM2 FGF23 CASR
5 pseudohypoparathyroidism 31.4 PTHLH PTH1R PTH BGLAP
6 kenny-caffey syndrome 31.0 TBCE FAM111A
7 hyperphosphatemia 30.7 PTH GCM2 FGF23 CASR
8 hypocalciuric hypercalcemia, familial, type i 30.6 PTH CASR
9 autoimmune polyendocrine syndrome 30.6 CASR AIRE
10 autoimmune polyendocrine syndrome type 1 30.4 CASR AIRE
11 familial isolated hyperparathyroidism 30.3 PTH GCM2 CASR
12 hypervitaminosis d 30.1 PTH FGF23
13 familial hypocalciuric hypercalcemia 30.0 SPG7 PTH CASR
14 calciphylaxis 29.8 PTH FGF23 CASR
15 osteitis fibrosa 29.7 PTH CASR BGLAP
16 pseudohypoparathyroidism, type ib 29.7 PTHLH PTH1R PTH BGLAP
17 rickets 29.6 PTH FGF23 BGLAP
18 hypophosphatemia 29.5 PTH FGF23 BGLAP
19 parathyroid gland disease 29.4 PTHLH PTH GCM2 FGF23 CASR BGLAP
20 hypercalcemia, infantile, 1 29.3 PTHLH PTH1R PTH CASR
21 idiopathic hypercalciuria 29.2 CASR BGLAP
22 osteomalacia 29.2 PTH FGF23 CASR BGLAP
23 secondary hyperparathyroidism of renal origin 29.1 PTH FGF23 CASR BGLAP
24 parathyroid adenoma 28.9 PTHLH PTH GCM2 CASR BGLAP
25 hyperparathyroidism 28.8 PTHLH PTH GCM2 FGF23 CASR BGLAP
26 renal osteodystrophy 28.8 PTH FGF23 CASR BGLAP
27 bone disease 27.9 PTHLH PTH1R PTH FGF23 CASR BGLAP
28 primary hyperparathyroidism 27.7 PTHLH PTH1R PTH GCM2 FGF23 CASR
29 osteoporosis 27.6 PTHLH PTH1R PTH FGF23 CASR BGLAP
30 hypoparathyroidism, sensorineural deafness, and renal disease 12.8
31 hypoparathyroidism, x-linked 12.6
32 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.6
33 autoimmune hypoparathyroidism 12.5
34 rare hypoparathyroidism 12.4
35 lymphedema-hypoparathyroidism syndrome 12.3
36 secondary hypoparathyroidism due to impaired parathormon secretion 12.3
37 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 12.3
38 genetic hypoparathyroidism 12.3
39 dahlberg borer newcomer syndrome 11.9
40 pseudopseudohypoparathyroidism 11.7
41 pseudohypoparathyroidism, type ia 11.7
42 digeorge syndrome 11.6
43 kenny-caffey syndrome, type 1 11.6
44 kearns-sayre syndrome 11.5
45 pseudohypoparathyroidism, type ic 11.5
46 kenny-caffey syndrome, type 2 11.5
47 primary hypomagnesemia 11.4
48 ossification of the posterior longitudinal ligament of spine 11.4
49 isolated hyperckemia 11.4
50 basal ganglia calcification, idiopathic, childhood-onset 11.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.02 AIRE CASR FGF23 GATA3 GCM2 PTH
2 growth/size/body region MP:0005378 9.97 AIRE CASR FGF23 GATA3 PTH PTH1R
3 craniofacial MP:0005382 9.91 GATA3 GCM2 PTH PTH1R PTHLH SOX3
4 homeostasis/metabolism MP:0005376 9.91 AIRE CASR FGF23 GATA3 GCM2 PTH
5 digestive/alimentary MP:0005381 9.88 AIRE CASR FGF23 GATA3 PTH1R PTHLH
6 mortality/aging MP:0010768 9.85 AIRE CASR FGF23 GATA3 GCM2 PTH
7 nervous system MP:0003631 9.56 AIRE GATA3 GCM2 PTH1R PTHLH SOX3
8 skeleton MP:0005390 9.28 CASR FGF23 GATA3 GCM2 PTH PTH1R

Drugs & Therapeutics for Hypoparathyroidism

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

(show top 50) (show all 132)
# 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
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
8 Respiratory System Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Betamethasone-17,21-dipropionate Phase 4
11 Betamethasone Valerate Phase 4 2152-44-5
12 Betamethasone sodium phosphate Phase 4
13 Betamethasone acetate Phase 4
14 Betamethasone benzoate Phase 4
15 Hormones Phase 4
16 Calcium, Dietary Phase 4
17 Calcium Supplement Phase 4
18 Gastrointestinal Agents Phase 4
19 Antacids Phase 4
20 Anti-Ulcer Agents Phase 4
21 Pharmaceutical Solutions Phase 4
22 Citrate Phase 4
23 Chelating Agents Phase 4
24 Anticoagulants Phase 4
25 Hemostatics Phase 4
26 Coagulants Phase 4
27 Lugol's solution Phase 4
28 cadexomer iodine Phase 4
29
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
30
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
31
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
32
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
33
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
34 Hormone Antagonists Phase 3
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
36 Vitamins Phase 3
37 Ergocalciferols Phase 3
38 Vitamin D2 Phase 3
39 Calciferol Phase 3
40 Bone Density Conservation Agents Phase 3
41 11-hydroxyprogesterone Phase 3
42 17 alpha-Hydroxyprogesterone Caproate Phase 3
43 Progestins Phase 3
44
Methylene blue Approved, Investigational Phase 1, Phase 2 61-73-4
45
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
46
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
47
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
48
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
49
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
50
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927

Interventional clinical trials:

(show top 50) (show all 100)
# 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 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)
7 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Not yet recruiting NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
8 Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment Not yet recruiting NCT03969108 Phase 4 Indocyanine Green
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 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 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
30 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
31 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
32 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
33 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
34 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Active, not recruiting NCT00576836 Phase 2
35 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
36 Intralesional 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 Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Unknown status NCT02906748
45 the Study on Difference Prognostic for Low Parathyroid Hormone Levels and Severe Secondary Hyperparathyroidism in Hemodialysis Patients Unknown status NCT03194087
46 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
47 The Effectiveness of an Oxidized Cellulose Patch Hemostatic Agent in Thyroid Surgery: a Prospective Randomized Controlled Study Unknown status NCT01756534
48 The Efficacy and Safety of Microwave Ablation for Mild-to-moderate Secondary Hyperparathyroidism Patients Undergoing Hemodialysis Unknown status NCT02332135 active vitamin D
49 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
50 Effect of Magnesium Treatment on Plasma Calcium in Hypoparathyroid Patients Completed NCT00824226

Search NIH Clinical Center for Hypoparathyroidism

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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:

41
Thyroid, Bone, Testes, Kidney, Lymph Node, Heart, Breast

Publications for Hypoparathyroidism

Articles related to Hypoparathyroidism:

(show top 50) (show all 5227)
# 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. 9 38
19940031 2010
2
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 9 38
20119591 2010
3
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 9 38
19580466 2010
4
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 9 38
20407228 2010
5
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. 9 38
19837919 2009
6
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 9 38
19659764 2009
7
Emerging topics in pediatric bone and mineral disorders 2008. 9 38
19615558 2009
8
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 9 38
19328421 2009
9
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. 9 38
19063686 2009
10
10p12.1 deletion: HDR phenotype without DGS2 features. 9 38
19022243 2009
11
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 9 38
19248180 2009
12
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. 9 38
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. 9 38
18712808 2009
14
Novel homozygous AIRE mutation in a German patient with severe APECED. 9 38
19209622 2008
15
Calcium homeostasis in 40 adolescents with beta-thalassemia major: a case-control study of the effects of intramuscular injection of a megadose of cholecalciferol. 9 38
19337170 2008
16
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. 9 38
18768863 2008
17
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. 9 38
18583467 2008
18
Cardiovascular distribution of the calcium sensing receptor before and after burns. 9 38
17869425 2008
19
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 9 38
18426830 2008
20
[Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?]. 9 38
18624279 2008
21
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 9 38
18182452 2008
22
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 9 38
18328986 2008
23
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 9 38
18322283 2008
24
Sevelamer hydrochloride improves hyperphosphatemia in hemodialysis patients with low bone turnover rate and low intact parathyroid hormone levels. 9 38
18028171 2007
25
Diseases and clinical applications of the calcium sensing receptor. 9 38
17925789 2007
26
[Hypoparathyroidism associated with autoimmune disorder]. 9 38
17660615 2007
27
[Calcium-sensing receptor and hypoparathyroidism]. 9 38
17660614 2007
28
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. 9 38
17374709 2007
29
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. 9 38
17464094 2007
30
Cinacalcet in the management of tumor-induced osteomalacia. 9 38
17352646 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. 9 38
17210674 2007
32
Hyperphosphatemia: effects on bone metabolism and cardiovascular risk. 9 38
17721071 2007
33
Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. 9 38
16983178 2006
34
Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders. 9 38
17121534 2006
35
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 9 38
16912130 2006
36
Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. 9 38
16918956 2006
37
Emerging role of a phosphatonin in mineral homeostasis and its derangements. 9 38
16884396 2006
38
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 9 38
16509533 2006
39
Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney. 9 38
16319112 2006
40
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. 9 38
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. 9 38
16313305 2005
42
Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D. 9 38
16234967 2005
43
[Fibroblast growth factor (FGF)-23 in patients with hypoparathyroidism]. 9 38
16272628 2005
44
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. 9 38
15960151 2005
45
Calcium-sensing receptor gene transcription is up-regulated by the proinflammatory cytokine, interleukin-1beta. Role of the NF-kappaB PATHWAY and kappaB elements. 9 38
15684428 2005
46
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 9 38
15705923 2005
47
[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease]. 9 38
16232374 2005
48
[Clinical use of calcimimetics in the treatment of hyperparathyroidisms]. 9 38
15525492 2004
49
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 9 38
15588433 2004
50
Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. 9 38
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 19)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.71 PTH GATA3 BGLAP
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.7 PTHLH PTH1R PTH
3 ossification GO:0001503 9.69 PTH1R CASR BGLAP
4 skeletal system development GO:0001501 9.62 PTHLH PTH1R PTH BGLAP
5 cell maturation GO:0048469 9.58 PTH1R GATA3
6 bone resorption GO:0045453 9.58 PTH1R PTH
7 regulation of bone mineralization GO:0030500 9.57 FGF23 BGLAP
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 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTHLH PTH
11 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.49 PTH1R PTH
12 cellular phosphate ion homeostasis GO:0030643 9.48 GCM2 FGF23
13 response to fibroblast growth factor GO:0071774 9.46 PTH CASR
14 phosphate ion homeostasis GO:0055062 9.43 PTH FGF23
15 parathyroid gland development GO:0060017 9.4 GCM2 GATA3
16 cAMP metabolic process GO:0046058 9.37 PTHLH PTH
17 osteoblast development GO:0002076 9.33 PTHLH PTH1R BGLAP
18 cellular response to vitamin D GO:0071305 9.13 FGF23 CASR BGLAP
19 bone mineralization GO:0030282 8.8 PTHLH PTH1R BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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