MCID: HYP024
MIFTS: 54

Hypoparathyroidism

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Hypoparathyroidism

MalaCards integrated aliases for Hypoparathyroidism:

Name: Hypoparathyroidism 12 76 53 37 29 55 44 15 73
Hypoparathyroidism, Idiopathic 53
Parathyroid, Underactivity of 53

Classifications:



External Ids:

Disease Ontology 12 DOID:11199
ICD10 33 E20 E20.9 E20.0
ICD9CM 35 252.1
MeSH 44 D007011
NCIt 50 C78350
KEGG 37 H01862
UMLS 73 C0020626

Summaries for Hypoparathyroidism

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.

MalaCards based summary : Hypoparathyroidism, also known as hypoparathyroidism, idiopathic, is related to hypoparathyroidism-retardation-dysmorphism syndrome and hypoparathyroidism, familial isolated. An important gene associated with Hypoparathyroidism is GCM2 (Glial Cells Missing Homolog 2), and among its related pathways/superpathways are G alpha (s) signalling events and Endochondral Ossification. The drugs Betamethasone and Calcium Carbonate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and kidney, and related phenotypes are endocrine/exocrine gland and digestive/alimentary

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.

Wikipedia : 76 Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid... more...

Related Diseases for Hypoparathyroidism

Diseases in the Hypoparathyroidism family:

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 267)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism-retardation-dysmorphism syndrome 34.3 FAM111A PTH TBCE
2 hypoparathyroidism, familial isolated 33.9 AIRE CASR GCM2 PTH
3 hypocalcemia, autosomal dominant 1 33.9 CASR GCM2
4 autoimmune polyendocrine syndrome type 1 33.4 AIRE CASR
5 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 33.2 AIRE CASR
6 kenny-caffey syndrome 30.7 FAM111A TBCE
7 pseudohypoparathyroidism 30.5 BGLAP PTH PTH1R PTHLH
8 autoimmune polyendocrine syndrome 29.8 AIRE CASR
9 familial hypocalciuric hypercalcemia 29.7 CASR PTH SPG7
10 hyperphosphatemia 29.4 CASR FGF23 GCM2 PTH
11 hypophosphatemia 28.9 BGLAP FGF23 PTH
12 secondary hyperparathyroidism of renal origin 28.7 BGLAP CASR FGF23 PTH
13 parathyroid gland disease 28.5 AIRE BGLAP CASR FGF23 GCM2 PTH
14 osteomalacia 28.3 BGLAP CASR FGF23 PTHLH
15 pseudohypoparathyroidism, type ib 28.1 BGLAP PTH PTH1R PTHLH
16 hyperparathyroidism 28.0 BGLAP CASR FGF23 GCM2 PTH PTHLH
17 bone disease 25.6 ALPP BGLAP CASR FGF23 PTH PTH1R
18 osteoporosis 25.2 ALPP BGLAP CASR FGF23 PTH PTH1R
19 primary hyperparathyroidism 25.0 ALPP BGLAP CASR FGF23 GCM2 PTH
20 hypoparathyroidism, sensorineural deafness, and renal disease 12.5
21 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.3
22 autoimmune hypoparathyroidism 12.2
23 secondary hypoparathyroidism due to impaired parathormon secretion 12.0
24 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 12.0
25 hypoparathyroidism, x-linked 11.9
26 lymphedema-hypoparathyroidism syndrome 11.9
27 dahlberg borer newcomer syndrome 11.6
28 pseudopseudohypoparathyroidism 11.2
29 kearns-sayre syndrome 11.2
30 pseudohypoparathyroidism, type ic 11.2
31 kenny-caffey syndrome, type 2 11.1
32 basal ganglia calcification, idiopathic, childhood-onset 10.8
33 velocardiofacial syndrome 10.8
34 kenny-caffey syndrome, type 1 10.8
35 ossification of the posterior longitudinal ligament of spine 10.8
36 primary hypomagnesemia 10.8
37 chief cell adenoma 10.8 GCM2 PTH
38 water-clear cell adenoma 10.7 GATA3 PTH
39 pseudopapilledema 10.7 GATA3 TBCE
40 hypocalciuric hypercalcemia, familial, type ii 10.7 CASR PTH
41 sclerosing hepatic carcinoma 10.6 PTH PTHLH
42 invasive malignant thymoma 10.5 PTH PTHLH
43 clear cell adenoma 10.5 PTH PTHLH
44 jaw cancer 10.5 PTH PTHLH
45 hypervitaminosis d 10.4 FGF23 PTH
46 pulmonary alveolar microlithiasis 10.4 FGF23 PTH
47 axial osteomalacia 10.4 BGLAP PTH
48 hypophosphatemic rickets, x-linked dominant 10.4 FGF23 PTH
49 cloacogenic carcinoma 10.3 PTH PTHLH
50 thyroiditis 10.3

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


Acute Cystitis Chronic Kidney Failure
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 9.76 AIRE CASR FGF23 GATA3 GCM2 PTH
2 digestive/alimentary MP:0005381 9.73 AIRE CASR FGF23 GATA3 PTH1R PTHLH
3 craniofacial MP:0005382 9.72 GATA3 GCM2 PTH PTH1R PTHLH
4 mortality/aging MP:0010768 9.61 AIRE CASR FGF23 GATA3 GCM2 PTH
5 skeleton MP:0005390 9.23 GATA3 GCM2 PTH PTH1R PTHLH SPG7

Drugs & Therapeutics for Hypoparathyroidism

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

(show top 50) (show all 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Calcium Carbonate Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 471-34-1
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-14-6 5280793
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 1406-16-2
8
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3 67-97-0 6221 5280795
9
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Anti-Asthmatic Agents Phase 4
11 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
12 Betamethasone acetate Phase 4
13 Betamethasone benzoate Phase 4
14 Betamethasone sodium phosphate Phase 4
15 Betamethasone Valerate Phase 4 2152-44-5
16 Betamethasone-17,21-dipropionate Phase 4
17 glucocorticoids Phase 4,Phase 1,Phase 2
18 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Respiratory System Agents Phase 4
22 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Ergocalciferols Phase 4,Phase 3,Not Applicable
24 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
25 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
26 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable
27 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
28 Anticoagulants Phase 4,Not Applicable
29 Antacids Phase 4,Phase 1,Phase 2,Not Applicable
30 Anti-Ulcer Agents Phase 4,Phase 1,Phase 2,Not Applicable
31 Chelating Agents Phase 4
32 Gastrointestinal Agents Phase 4,Phase 1,Phase 2,Not Applicable
33 Antipsychotic Agents Phase 4
34 Central Nervous System Depressants Phase 4
35 Central Nervous System Stimulants Phase 4
36 Dopamine Agents Phase 4
37 Dopamine Antagonists Phase 4
38 Dopamine Uptake Inhibitors Phase 4
39 Neurotransmitter Agents Phase 4
40 Neurotransmitter Uptake Inhibitors Phase 4
41 Psychotropic Drugs Phase 4
42 Serotonin Agents Phase 4
43 Serotonin Antagonists Phase 4
44 Tranquilizing Agents Phase 4
45 Calciferol Nutraceutical Phase 4,Phase 3,Not Applicable
46 Vitamin D2 Nutraceutical Phase 4,Phase 3,Not Applicable
47 Calcium Supplement Nutraceutical Phase 4,Phase 1,Phase 2
48 Citrate Nutraceutical Phase 4
49
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
50
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850

Interventional clinical trials:

(show top 50) (show all 106)
# Name Status NCT ID Phase Drugs
1 Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
2 Vitamin D Deficiency and Postoperative Hypocalcemia Unknown status NCT01632514 Phase 4 Cholecalciferol
3 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
4 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
5 Clinical Study of Extended Use of Recombinant Human Parathyroid Hormone (rhPTH(1-84)) in Hypoparathyroidism Active, not recruiting NCT02910466 Phase 4 rhPTH(1-84)
6 Study of the Effect of Recombinant Human Parathyroid Hormone [rhPTH(1-84)] on Metabolic Control and Symptoms Among Adults With Hypoparathyroidism Not yet recruiting NCT03324880 Phase 4
7 Efficacy of Calcium Citrate Versus Calcium Carbonate in Maintaining Normal Serum Calcium Level and Changing Quality of Life in Patients With Chronic Hypoparathyroidism Not yet recruiting NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
8 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
9 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
10 Study of Safety and Efficacy of a rhPTH[1-84] of Fixed Doses of 25 and 50 mcg in Adults With Hypoparathyroidism (RELAY) Completed NCT01268098 Phase 3 NPSP558
11 Use of NPSP558 in the Treatment of Hypoparathyroidism Completed NCT00732615 Phase 3 Placebo;NPSP558
12 A Study to Investigate the Safety and Tolerability of NPSP558, for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study in Hungary Completed NCT01455181 Phase 3 NPSP558
13 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
14 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
15 A 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) Active, not recruiting NCT01297309 Phase 3 NPSP558
16 ADD-ON Study to Existing Hypoparathyroidism Studies Active, not recruiting NCT00856401 Phase 3 PTH1-84 in parent study
17 HEXT (Hypo EXTended): Effect of PTH on Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3 open-label PTH(1-84)
18 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
19 Safety and Efficacy Study of rhPTH(1-84) in Subjects With Hypoparathyroidism Not yet recruiting NCT03364738 Phase 3
20 A Study Comparing Amorphous Calcium Carbonate (ACC) Versus Crystalline Calcium CCS) in Hypoparathyroidism Patients Completed NCT01815021 Phase 1, Phase 2
21 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
22 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)
23 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
24 Intra-operative Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
25 A Study to Determine the Effects of NPSP795 on the Calcium-sensing Receptor in Subjects With Autosomal Dominant Hypocalcemia as Measured by PTH Levels and Blood Calcium Concentrations Completed NCT02204579 Phase 2 NPSP795
26 Oral PTH(1-34) PK and PD Study in Patients With Hypoparathyroidism Recruiting NCT03516773 Phase 2 EB612 (EBP05);NATPARA/NATPAR
27 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
28 Thyroid Gland Removal With or Without Central Lymph Node Dissection in Treating Patients With Node Negative Thyroid Cancer Recruiting NCT02138214 Phase 2
29 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
30 Phase I/II 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
31 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
32 Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in People With Low-risk Papillary Thyroid Cancer Active, not recruiting NCT02408887 Phase 2
33 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
34 Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
35 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
36 Study of rhPTH(1-84) in Japanese Healthy Subjects Compared With Matched Caucasian Healthy Adult Subjects Completed NCT03150108 Phase 1 rhPTH(1-84);rhPTH(1-84);rhPTH(1-84)
37 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
38 Study to Assess the Blood Concentrations and Actions of Recombinant Human Parathyroid Hormone (rhPTH [1-84]) When Given Once and Twice Daily to Subjects With Hypoparathyroidism Recruiting NCT02781844 Phase 1 25mcg rhPTH(1-84);50mcg rhPTH(1-84);100mcg rhPTH(1-84);rhpth(1-84)
39 EIS in Thyroid and Parathyroid Surgery Recruiting NCT02901873 Phase 1
40 Precision Thyroid Cancer Surgery With Molecular Fluorescent Guided Imaging Recruiting NCT03470259 Phase 1 IV adminstration of EMI-137
41 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
42 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
43 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
44 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Unknown status NCT02551120
45 Vitamin D Levels and Postoperative Hypocalcemia After Total Thyroidectomy Unknown status NCT01039714
46 Comparative Analysis Between Bipolar Device and Conventional Tie & Suture Technique in Thyroidectomy Unknown status NCT02140476 Not Applicable
47 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Unknown status NCT02787486
48 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
49 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
50 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955

Search NIH Clinical Center for Hypoparathyroidism

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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, Testes, Kidney, Bone, Thymus, Skin, Lymph Node

Publications for Hypoparathyroidism

Articles related to Hypoparathyroidism:

(show top 50) (show all 801)
# Title Authors Year
1
Teriparatide Replacement Therapy for Hypoparathyroidism During Treatment With Lenvatinib for Advanced Thyroid Cancer: A Case Report. ( 29867775 )
2018
2
Quality of life in hypoparathyroidism. ( 29181618 )
2018
3
Self-report of psychological symptoms in hypoparathyroidism patients on conventional therapy. ( 29791658 )
2018
4
Under-recognized Hypoparathyroidism in Thalassemia. ( 29726397 )
2018
5
Patients' views about parathyroid transplantation for post-thyroidectomy hypoparathyroidism. ( 29971614 )
2018
6
The Effects of Long-term Administration of rhPTH(1-84) in Hypoparathyroidism by Bone Histomorphometry. ( 29972871 )
2018
7
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229 )
2018
8
Isolated ligamentum flavum ossification in primary hypoparathyroidism. ( 29399376 )
2018
9
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. ( 29971010 )
2018
10
Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1-34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity. ( 29878514 )
2018
11
Successful pregnancies and reduced treatment requirement while breast feeding in a patient with congenital hypoparathyroidism due to homozygous c.68C>A null parathyroid hormone gene mutation. ( 29804071 )
2018
12
MILK-ALKALI SYNDROME (MAS) as a complication of the treatment of hypoparathyroidism. ( 29442351 )
2018
13
Screening and management of postoperative hypoparathyroidism-induced hypocalcemia in thyroidectomized patients in the endocrine ward compared with the surgical ward. ( 29940689 )
2018
14
Acute Onset of Quadriplegia Secondary to Hypoparathyroidism: Mimicker of AMAN Variant of GBS. ( 29482695 )
2018
15
An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report. ( 29350657 )
2018
16
Hypoparathyroidism Causing Seizures: When Epilepsy Does Not Fit. ( 29808096 )
2018
17
Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism. ( 29520810 )
2018
18
Hypothyroidism and Hypoparathyroidism in Thalassemia Major Patients: A Study in Sistan and Baluchestan Province, Iran. ( 29868126 )
2018
19
Hypoparathyroidism concomitant with macrothrombocytopenia in an elderly woman with 22q11.2 deletion syndrome. ( 29851532 )
2018
20
Development of a Novel Human Parathyroid Hormone Receptor 1 (hPTHR1) Agonist (CH5447240), a Potent and Orally Available Small Molecule for Treatment of Hypoparathyroidism. ( 29932656 )
2018
21
Does the number of parathyroid glands autotransplanted affect the incidence of hypoparathyroidism and recovery of parathyroid function? ( 29398031 )
2018
22
Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism. ( 29846619 )
2018
23
Effect of autotransplantation of a parathyroid gland on hypoparathyroidism after total thyroidectomy. ( 29301864 )
2018
24
Postoperative hypoparathyroidism after total thyroidectomy for thyroid cancer. ( 29747960 )
2018
25
Hypoparathyroidism: is it that easy to treat? ( 29876797 )
2018
26
Autoimmune-Related Primary Hypoparathyroidism Possibly Induced by the Administration of Pembrolizumab: A Case Report. ( 29906213 )
2018
27
Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report. ( 29593425 )
2018
28
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism. ( 29969884 )
2018
29
The hypoparathyroidism-deafness-renal dysplasia syndrome: A case report. ( 29398643 )
2018
30
Does PTH Replacement Therapy Improve Quality of Life in Patients With Chronic Hypoparathyroidism? ( 29897557 )
2018
31
Intracranial Calcification Due to Hypoparathyroidism. ( 29355508 )
2018
32
American Thyroid Association Statement on Postoperative Hypoparathyroidism: Diagnosis, Prevention, and Management in Adults. ( 29848235 )
2018
33
Afebrile Seizures as Initial Symptom of Hypocalcemia Secondary to Hypoparathyroidism. ( 28694646 )
2017
34
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. ( 28303854 )
2017
35
Hypoparathyroidism: what is the best calcium carbonate supplementation intake form? ( 29279189 )
2017
36
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. ( 28444561 )
2017
37
Hypoparathyroidism. ( 28857067 )
2017
38
Hypoparathyroidism ( 28722928 )
2017
39
A Case of "Late" Postsurgical Hypoparathyroidism. ( 28642829 )
2017
40
Hypocalcaemia and permanent hypoparathyroidism after total/bilateral thyroidectomy in the BAETS Registry. ( 29322024 )
2017
41
Safety and Efficacy of Recombinant Human Parathyroid Hormone in Adults With Hypoparathyroidism Randomly Assigned to Receive Fixed 25-I1g or 50-I1g Daily Doses. ( 28942334 )
2017
42
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. ( 28138333 )
2017
43
Nutritional Nightmare: Hypoparathyroidism Secondary to Celiac Disease. ( 28826689 )
2017
44
Hypoparathyroidism. ( 28857066 )
2017
45
Risk factors for hypocalcemia and hypoparathyroidism following thyroidectomy: a retrospective Chinese population study. ( 29180898 )
2017
46
Clinical profile and long-term follow-up of 32 patients with postoperative permanent hypoparathyroidism. ( 29322017 )
2017
47
Long-Term Complications in Patients With Hypoparathyroidism Evaluated by Biochemical Findings: A Case-Control Study. ( 29281760 )
2017
48
Quality of life in patients with hypoparathyroidism receiving standard treatment: a systematic review. ( 28822059 )
2017
49
Failure of fragmented parathyroid gland autotransplantation to prevent permanent hypoparathyroidism after total thyroidectomy. ( 28064342 )
2017
50
The dental manifestations and orthodontic implications of hypoparathyroidism in childhood. ( 29191124 )
2017

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 9.7 BGLAP GATA3 PTH
2 ossification GO:0001503 9.69 BGLAP CASR PTH1R
3 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.63 PTH PTH1R PTHLH
4 skeletal system development GO:0001501 9.62 BGLAP PTH PTH1R PTHLH
5 cell maturation GO:0048469 9.58 GATA3 PTH1R
6 bone resorption GO:0045453 9.58 PTH PTH1R
7 regulation of bone mineralization GO:0030500 9.57 BGLAP FGF23
8 response to vitamin D GO:0033280 9.56 BGLAP PTH
9 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTH PTHLH
10 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.54 PTH PTHLH
11 cellular phosphate ion homeostasis GO:0030643 9.49 FGF23 GCM2
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.48 PTH PTH1R
13 cellular calcium ion homeostasis GO:0006874 9.46 CASR GCM2 PTH PTH1R
14 parathyroid gland development GO:0060017 9.43 GATA3 GCM2
15 bone mineralization GO:0030282 9.43 BGLAP PTH1R PTHLH
16 response to fibroblast growth factor GO:0071774 9.4 CASR PTH
17 cAMP metabolic process GO:0046058 9.37 PTH PTHLH
18 osteoblast development GO:0002076 9.13 BGLAP PTH1R PTHLH
19 cellular response to vitamin D GO:0071305 8.8 BGLAP CASR FGF23

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 PTH PTHLH

Sources for Hypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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