MCID: HYP024
MIFTS: 56

Hypoparathyroidism

Categories: Blood diseases, Endocrine diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Hypoparathyroidism

MalaCards integrated aliases for Hypoparathyroidism:

Name: Hypoparathyroidism 11 19 75 28 53 43 14 16 71 31 33
Hypoparathyroidism Due to Impaired Pth - [parathyroid Hormone] Secretion 33
Deficiency of Parathyroid Hormone 33
Syndrome with Hypoparathyroidism 58
Parathyroid Gland Insufficiency 33
Hypoparathyroidism, Idiopathic 19
Parathyroid, Underactivity of 19
Parathyroid Insufficiency 33

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hypoparathyroidism

GARD: 19 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).

MalaCards based summary: Hypoparathyroidism, also known as hypoparathyroidism due to impaired pth - [parathyroid hormone] secretion, is related to hypoparathyroidism, familial isolated, 1 and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Hypoparathyroidism is PTH (Parathyroid Hormone), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drugs Betamethasone and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, kidney and lymph node, and related phenotypes are homeostasis/metabolism and nervous system

Disease Ontology: 11 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.

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 764)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, familial isolated, 1 32.9 PTH AIRE
2 hypoparathyroidism-retardation-dysmorphism syndrome 32.9 TBCE PTH GCM2 FAM111A CASR
3 hypoparathyroidism, x-linked 32.7 SOX3 HPT
4 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.7 CASR AIRE
5 familial isolated hypoparathyroidism 32.5 PTH GNA11 GCM2 CASR AIRE
6 hypoparathyroidism-deafness-renal disease syndrome 32.5 PTH GCM2 GATA3 FAM111A CASR
7 kenny-caffey syndrome, type 1 32.2 TBCE FAM111A
8 kenny-caffey syndrome 31.9 TBCE PTH GCM2 FAM111A CASR
9 pseudohypoparathyroidism, type ia 31.4 PTHLH PTH1R PTH PRKAR1A GNA11
10 hypocalcemia, autosomal dominant 1 31.2 PTHLH PTH PRKAR1A GNA11 GCM2 FGF23
11 hyperphosphatemia 31.0 SOX3 PTH GCM2 FGF23 CASR BGLAP
12 pseudohypoparathyroidism 30.9 PTHLH PTH1R PTH PRKAR1A CALCA BGLAP
13 pseudopseudohypoparathyroidism 30.7 PTHLH PTH PRKAR1A GNA11
14 thyroiditis 30.4 CTLA4 CALCA AIRE
15 hypothyroidism 30.3 CTLA4 CALCA BGLAP AIRE
16 rickets 30.3 PTH FGF23 CASR CALCA BGLAP ALPP
17 hyperthyroidism 30.2 PTH CTLA4 CALCA BGLAP
18 hypocalciuric hypercalcemia, familial, type i 30.1 PTH GNA11 CASR
19 calciphylaxis 30.1 PTH FGF23 CASR
20 parathyroid gland disease 30.1 PTHLH PTH1R PTH GNA11 GCM2 FGF23
21 hypophosphatemia 30.1 PTHLH PTH1R PTH FGF23 BGLAP
22 enthesopathy 30.1 PTH FGF23
23 hashimoto thyroiditis 30.0 CTLA4 CALCA AIRE
24 pseudohypoparathyroidism, type ib 30.0 PTHLH PTH1R PTH PRKAR1A BGLAP
25 diffuse idiopathic skeletal hyperostosis 30.0 PTH BGLAP
26 multiple endocrine neoplasia, type i 30.0 PTH PRKAR1A GCM2 CASR
27 uremia 29.8 PTH FGF23 CASR
28 hypophosphatemic rickets, x-linked dominant 29.8 PTH FGF23 BGLAP
29 kidney disease 29.8 PTH GATA3 FGF23 CASR CALCA BGLAP
30 secondary hyperparathyroidism 29.8 SPG7 PTH PRKAR1A FGF23 CASR CALCA
31 tetanic cataract 29.8 PTH CALCA
32 osseous heteroplasia, progressive 29.8 PTHLH PTH PRKAR1A GNA11 BGLAP
33 multiple endocrine neoplasia 29.8 PTH PRKAR1A CALCA
34 osteogenic sarcoma 29.7 PTHLH PTH1R PTH BGLAP
35 nontoxic goiter 29.7 PTH CALCA BGLAP
36 parathyroid carcinoma 29.7 PTH GCM2 CASR CALCA
37 mammary paget's disease 29.7 PTH CALCA BGLAP
38 chronic kidney disease 29.7 PTH1R PTH FGF23 CASR CALCA BGLAP
39 osteitis fibrosa 29.6 PTH FGF23 CASR CALCA BGLAP
40 type 1 diabetes mellitus 29.6 CTLA4 CALCA BGLAP AIRE
41 chondrodysplasia, blomstrand type 29.6 PTHLH PTH1R
42 nodular goiter 29.6 PTH CTLA4 CALCA
43 hyperparathyroidism 29.6 PTHLH PTH1R PTH PRKAR1A GCM2 FGF23
44 cleidocranial dysplasia 1 29.6 PTHLH PTH1R BGLAP
45 paget's disease of bone 29.5 PTH CALCA BGLAP
46 substernal goiter 29.5 PTH CALCA
47 osteomalacia 29.5 PTHLH PTH FGF23 CASR CALCA BGLAP
48 parathyroid adenoma 29.5 PTHLH PTH PRKAR1A GCM2 CASR CALCA
49 hypervitaminosis d 29.5 PTHLH PTH FGF23 CALCA
50 acrodysostosis 29.5 PTHLH PTH1R PTH PRKAR1A

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


Acute Cystitis Chronic Kidney Disease
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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 AIRE BGLAP CALCA CASR CTLA4 FAM111A
2 nervous system MP:0003631 10.3 AIRE CALCA CASR GATA3 GCM2 GNA11
3 endocrine/exocrine gland MP:0005379 10.3 AIRE BGLAP CASR CTLA4 FGF23 GATA3
4 normal MP:0002873 10.19 AIRE CALCA CTLA4 GATA3 GCM2 GNA11
5 skeleton MP:0005390 10.16 BGLAP CALCA CASR CTLA4 FAM111A FGF23
6 immune system MP:0005387 10.15 AIRE BGLAP CASR CTLA4 FGF23 GATA3
7 renal/urinary system MP:0005367 10.11 CALCA CASR FGF23 GATA3 GCM2 GNA11
8 digestive/alimentary MP:0005381 10.09 AIRE CASR CTLA4 FGF23 GATA3 PRKAR1A
9 craniofacial MP:0005382 10.06 GATA3 GCM2 GNA11 PRKAR1A PTH PTH1R
10 limbs/digits/tail MP:0005371 10.04 FGF23 GNA11 PRKAR1A PTH PTH1R PTHLH
11 respiratory system MP:0005388 10.02 AIRE CALCA CTLA4 FGF23 GNA11 PRKAR1A
12 pigmentation MP:0001186 9.95 CASR CTLA4 GATA3 GNA11 PRKAR1A
13 hematopoietic system MP:0005397 9.93 AIRE BGLAP CASR CTLA4 FGF23 GATA3
14 mortality/aging MP:0010768 9.83 AIRE CALCA CASR CTLA4 FGF23 GATA3
15 integument MP:0010771 9.28 CALCA CASR CTLA4 FGF23 GATA3 GNA11

Drugs & Therapeutics for Hypoparathyroidism

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
8
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
9 Anti-Asthmatic Agents Phase 4
10
Betamethasone acetate Phase 4
11 Respiratory System Agents Phase 4
12 Calcium Supplement Phase 4
13 Trace Elements Phase 4
14 Micronutrients Phase 4
15 Citrate Phase 4
16
Vitamin D2 Phase 4 3249
17 Ergocalciferols Phase 4
18 Hormones Phase 4
19 Vitamins Phase 4
20 Calciferol Phase 4
21 Hydroxycholecalciferols Phase 4
22 Gastrointestinal Agents Phase 4
23 Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Antineoplastic Agents, Hormonal Phase 4
27 Antiemetics Phase 4
28 HIV Protease Inhibitors Phase 4
29 Anesthetics Phase 4
30 BB 1101 Phase 4
31
protease inhibitors Phase 4
32
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850 155817470
33
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
34 Pharmaceutical Solutions Phase 3
35
Calcium carbonate Approved, Investigational Phase 1, Phase 2 471-34-1
36
Amiloride Approved Phase 2 17440-83-4, 2016-88-8, 2609-46-3 16231
37
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
38 Anti-Ulcer Agents Phase 1, Phase 2
39 Antacids Phase 1, Phase 2
40 Sodium Channel Blockers Phase 2
41 Diuretics, Potassium Sparing Phase 2
42 diuretics Phase 2
43 Cyclosporins Phase 1
44 Antilymphocyte Serum Phase 1
45 Thymoglobulin Phase 1
46
Glucagon Approved 16941-32-5 16133228 16186314
47
Parathyroid hormone Approved, Investigational 9002-64-6
48
Calcitriol Approved, Nutraceutical 32222-06-3 5280453
49
Gastric inhibitory polypeptide Investigational 100040-31-1
50 Insulin, Globin Zinc Early Phase 1

Interventional clinical trials:

(show top 50) (show all 81)
# 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 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Unknown status NCT04012476 Phase 4 Indocyanine Green
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)
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)] Completed NCT03324880 Phase 4
5 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
6 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
7 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. 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).
8 HEXT: The Hypoparathyroidism Studies, EXTended: The Effect of PTH on the Skeleton in Hypoparathyroidism Unknown status NCT01199614 Phase 3 open-label PTH(1-84)
9 Phase II Trial of Parathyroid Hormone for the Treatment of Hypoparathyroidism Unknown status NCT00856401 Phase 3 PTH1-84 in parent study
10 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
11 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
12 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
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 The Effect of Teriparatide on the Early Postoperative Hypocalcemia After Parathyroidectomy in Dialysis Patients: a Pilot, Randomized Trial Completed NCT04750460 Phase 3 Teriparatide
16 Contribution of Indocyanine Green Angiography in the Detection of Parathyroids and the Prevention of Hypoparathyroidism Post Total Thyroidectomy Recruiting NCT04785443 Phase 3 ICG
17 PaTHway CHINA TRIAL: A Phase 3, 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 NCT05387070 Phase 3 TransCon PTH;placebo
18 The Use of Autofluorescence and Indocyanine Green to Avoid Hypocalcemia After Total Thyroidectomy: A Randomized Clinical Trial Recruiting NCT05117853 Phase 3 Autofluorescent detection + Injection of indocyanine green
19 PaTHway TRIAL: A Phase 3, 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 NCT04701203 Phase 3
20 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
21 An Open-label Study Investigating the Safety and Efficacy of rhPTH(1-84) in Subjects With Hypoparathyroidism Terminated NCT03364738 Phase 3
22 A Phase 3, Open-label Clinical Study of rhPTH(1-84) Treatment in Japanese Subjects With Chronic Hypoparathyroidism Withdrawn NCT03878953 Phase 3 rhPTH(1-84)
23 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
24 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
25 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Completed NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
26 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
27 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)
28 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
29 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
30 Treatment of Postoperative Hypoparathyroidism Using Cultured Allogenic Parathyroid Cells Not yet recruiting NCT05186883 Phase 1, Phase 2
31 Pilot Study of Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
32 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)
33 A Single and Multiple Ascending Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AZP-3601, a Synthetic Parathyroid Hormone Analog, in Healthy Subjects and in Subjects With Hypoparathyroidism Completed NCT05239221 Phase 1 AZP-3601;Placebo
34 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)
35 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
36 A Randomized, Double-Blind, Multiple Ascending Oral Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of PCO371 in Patients With Hypoparathyroidism Terminated NCT04209179 Phase 1 PCO371;Placebo
37 Bi-daily Injection of Subcutaneous Teriparatide in Children With Hypoparathyroidism: Single-center Experience Unknown status NCT04126941
38 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Unknown status NCT02551120
39 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
40 Corticosteroid Rhythms in Hypoparathyroid Patients Unknown status NCT02986607 Early Phase 1 parathyroid hormon 1-84
41 Intra-operative Rapid Identification of Lymph Node and Parathyroid by Fine Needle Puncture for Thyroid Carcinoma Unknown status NCT03268785
42 Post-thyroidectomy Vocal Cord Paralysis Along With Hypocalcemia: Prospective, Matched-randomized Observational Cohort Compatible With STROBE Guidelines Unknown status NCT04396912
43 Study on Application of Suturing Parathyroid Markers in Thyroid Cancer Surgery Unknown status NCT03514251
44 Evaluation of iMmune Function in Post-surgical and AuToimmune HYpoparathyroidism: The EMPATHY Study Completed NCT04059380
45 Impaired Quality of Life and Cognitive Function in Patients With Hypoparathyroidism Might be Explained by Disturbed Capillary Flow Patterns in the Brain Completed NCT04569604
46 Changes in Circulating Sclerostin Levels During Acute Postsurgical Hypoparathyroidism Completed NCT04146259 calcium carbonate and alphacalcidol
47 Comparing Pump vs. Subcutaneous Injection Delivery of PTH 1-34 in the Management of Chronic Hypoparathyroidism Completed NCT00743782 Early Phase 1 Synthetic Human Parathyroid Hormone 1-34
48 Effects of a Liquid Meal and Gut Hormones (GIP and GLP-2) on Bone Remodeling in Participants With Hypoparathyroidism (KS-4-HypoPT). Completed NCT03728959
49 Observational Prospective Study on the Effects of Hypoparathyroidism on Post-thyroidectomy Health-related Quality of Life (QoL-hPTP) Completed NCT04604808
50 Quality of Life Evaluation (SF-36) in Patients With Permanent Hypoparathyroidism After Total Thyroidectomy Completed NCT04053647

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 28

Anatomical Context for Hypoparathyroidism

Organs/tissues related to Hypoparathyroidism:

MalaCards : Thyroid, Kidney, Lymph Node, Skin, Bone, Thymus, Tonsil

Publications for Hypoparathyroidism

Articles related to Hypoparathyroidism:

(show top 50) (show all 6281)
# Title Authors PMID Year
1
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 53 62
20119591 2010
2
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. 53 62
19940031 2010
3
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 53 62
20407228 2010
4
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 53 62
19580466 2010
5
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. 53 62
19837919 2009
6
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 53 62
19659764 2009
7
Emerging topics in pediatric bone and mineral disorders 2008. 53 62
19615558 2009
8
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. 53 62
19328421 2009
9
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. 53 62
19063686 2009
10
10p12.1 deletion: HDR phenotype without DGS2 features. 53 62
19022243 2009
11
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 53 62
19248180 2009
12
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. 53 62
18712808 2009
13
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. 53 62
19057839 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. 53 62
19337170 2008
15
Novel homozygous AIRE mutation in a German patient with severe APECED. 53 62
19209622 2008
16
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. 53 62
18583467 2008
17
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. 53 62
18768863 2008
18
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 53 62
18426830 2008
19
Cardiovascular distribution of the calcium sensing receptor before and after burns. 53 62
17869425 2008
20
[Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?]. 53 62
18624279 2008
21
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. 53 62
18182452 2008
22
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 53 62
18328986 2008
23
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 53 62
18322283 2008
24
Sevelamer hydrochloride improves hyperphosphatemia in hemodialysis patients with low bone turnover rate and low intact parathyroid hormone levels. 53 62
18028171 2007
25
Diseases and clinical applications of the calcium sensing receptor. 53 62
17925789 2007
26
[Calcium-sensing receptor and hypoparathyroidism]. 53 62
17660614 2007
27
[Hypoparathyroidism associated with autoimmune disorder]. 53 62
17660615 2007
28
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. 53 62
17374709 2007
29
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. 53 62
17464094 2007
30
Cinacalcet in the management of tumor-induced osteomalacia. 53 62
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. 53 62
17210674 2007
32
Hyperphosphatemia: effects on bone metabolism and cardiovascular risk. 53 62
17721071 2007
33
Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. 53 62
16983178 2006
34
Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders. 53 62
17121534 2006
35
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 53 62
16912130 2006
36
Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. 53 62
16918956 2006
37
Emerging role of a phosphatonin in mineral homeostasis and its derangements. 53 62
16884396 2006
38
Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney. 53 62
16319112 2006
39
A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 53 62
16509533 2006
40
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. 53 62
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. 53 62
16313305 2005
42
Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D. 53 62
16234967 2005
43
[Fibroblast growth factor (FGF)-23 in patients with hypoparathyroidism]. 53 62
16272628 2005
44
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. 53 62
15960151 2005
45
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 53 62
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. 53 62
15684428 2005
47
[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease]. 53 62
16232374 2005
48
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 53 62
15588433 2004
49
[Clinical use of calcimimetics in the treatment of hyperparathyroidisms]. 53 62
15525492 2004
50
Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. 53 62
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 12)
# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 10.06 PTHLH PTH1R PTH CALCA
2 skeletal system development GO:0001501 10.02 BGLAP GNA11 PTH PTH1R PTHLH
3 ossification GO:0001503 9.88 PTH1R CASR CALCA BGLAP
4 bone mineralization GO:0030282 9.86 PTHLH PTH1R PTH BGLAP
5 osteoblast development GO:0002076 9.85 PTHLH PTH1R BGLAP
6 cellular phosphate ion homeostasis GO:0030643 9.81 GCM2 FGF23
7 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.8 PTH1R PTH
8 response to fibroblast growth factor GO:0071774 9.78 PTH CASR
9 cAMP metabolic process GO:0046058 9.73 PTH PTHLH
10 cellular response to vitamin D GO:0071305 9.63 FGF23 CASR BGLAP
11 cellular calcium ion homeostasis GO:0006874 9.61 PTH1R PTH GCM2 CASR CALCA
12 parathyroid gland development GO:0060017 9.1 TBX1 GCM2 GATA3

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 8.92 PTHLH PTH

Sources for Hypoparathyroidism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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