HYPOC1
MCID: HYP802
MIFTS: 69

Hypocalcemia, Autosomal Dominant 1 (HYPOC1)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypocalcemia, Autosomal Dominant 1

MalaCards integrated aliases for Hypocalcemia, Autosomal Dominant 1:

Name: Hypocalcemia, Autosomal Dominant 1 56 73 29 6 71
Autosomal Dominant Hypocalcemia 12 25 58 29 15 71
Hypocalcemia, Autosomal Dominant 56 52 54
Hypoc1 56 12 73
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 56 29
Hypercalciuric Hypocalcemia 56 73
Familial Hypocalcemia 25 73
Hypocalcemia 43 71
Autosomal Dominant Hypocalcemia with Bartter Syndrome 73
Hypoparathyroidism - Autosomal Dominant 71
Autosomal Dominant Hypoparathyroidism 25
Familial Hypercalciuric Hypocalcemia 25
Autosomal Dominant Hypocalcemia 1 12
Hypocalcemia, Familial 56
Ad Hypocalcemia 58
Hypoc 12
Adh 25

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant hypocalcemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

31
hypocalcemia, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases


Summaries for Hypocalcemia, Autosomal Dominant 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 428 Definition A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. Epidemiology Prevalence is unknown, but the disease is likely to be underdiagnosed as the hypocalcemia may remain asymptomatic. Clinical description Clinical expression and age of onset are extremely variable (depending on the degree of hypocalcemia), ranging from completely asymptomatic patients (in whom the diagnosis is made by chance during a routine exam) to patients with limited symptoms (cramps, asthenia, paresthesias) and patients with severe symptoms (i.e. recurrent seizures ). In addition to hypocalcemia, hypercalciuria or relative hypercalciuria (hypercalciuria within the normal range, but relatively high in the presence of hypocalcemia) is present. Hyperphosphatemia, hypomagnesemia and hypermagnesuria are also common. Nephrocalcinosis and impaired renal function have been reported and cases of AD hypocalcemia with classical features of Bartter syndrome (BS; see this term) have been described (referred to as BS with hypocalcemia; see this term). Serum levels of PTH are normal or low. In addition to regulation by PTH, environmental factors also influence calcium homeostasis and may explain why an initially well-controlled hypocalcemia may become symptomatic at various stages of life. Etiology AD hypocalcemia is caused by activating mutations of the gene CASR (3q21.1), encoding the calcium-sensing receptor (CaSR). CaSR plays a key role in the regulation of calcium-phosphate metabolism by controlling PTH secretion and urinary calcium excretion in response to variations in serum calcium levels. Gain-of-function CASR mutations result in increased sensitivity of parathyroid and renal cells to calcium levels, leading to hypocalcemia being perceived as normal. Activating mutations in GNA11 (19p13.3) have also been described. Diagnostic methods Diagnosis is made through analysis of calcium levels in the serum and urine and PTH levels, Molecular analysis of CaSR followed by GNA11 confirms diagnosis. Differential diagnosis Differential diagnosis includes all other causes of hypoparathyroidism as well as BS in patients with renal salt wasting. Antenatal diagnosis Antenatal diagnosis is possible. Genetic counseling Genetic counseling may be proposed but patients should be informed about the wide variability in clinical presentation. Management and treatment Treatment to normalize calcemia levels should be considered with caution, as any increase in calcium levels (even within the normal range) will be perceived by renal cells as hypercalcemia and lead to increased urinary calcium excretion, and possibly to nephrocalcinosis and renal failure. Treatment should aim towards finding a balance between the clinical signs of hypocalcemia and maintenance of calcium homeostasis, without being iatrogenic. Urine calcium levels should be monitored in order to avoid hypercalciuria rather than adapting treatment towards hypocalcemia. In asymptomatic and mildly symptomatic patients, treatment may not be necessary. Special care must be given to children as chronic hypocalcemia has deleterious effects on intellectual development. Treatment is based on administration of 1-alpha hydroxylated vitamin D (doses ranging from 0.5 to 1.5 micrograms/day in adults; higher doses are sometimes required in children). Careful monitoring of calciuria and regular kidney ultrasound are required. In cases where calcium homeostasis is difficult to achieve, exogenous PTH administered by infusion pump can be proposed. Prognosis The prognosis is variable, depending on the severity of the hypocalcemia and the possible consequences of inadequate treatment. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypocalcemia, Autosomal Dominant 1, also known as autosomal dominant hypocalcemia, is related to hypoparathyroidism, familial isolated, 1 and pseudohypoparathyroidism, type ib, and has symptoms including seizures, muscle cramp and carpopedal spasm. An important gene associated with Hypocalcemia, Autosomal Dominant 1 is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Presynaptic function of Kainate receptors. The drugs Zoledronic Acid and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are emg abnormality and anxiety

Disease Ontology : 12 A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.

Genetics Home Reference : 25 Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems. The most common features of autosomal dominant hypocalcemia include muscle spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling or tingling sensations (paresthesias), or twitching of the nerves and muscles (neuromuscular irritability) in various parts of the body. More severely affected individuals develop seizures, usually in infancy or childhood. Sometimes, these symptoms occur only during episodes of illness or fever. Some people with autosomal dominant hypocalcemia have high levels of calcium in their urine (hypercalciuria), which can lead to deposits of calcium in the kidneys (nephrocalcinosis) or the formation of kidney stones (nephrolithiasis). These conditions can damage the kidneys and impair their function. Sometimes, abnormal deposits of calcium form in the brain, typically in structures called basal ganglia, which help control movement. A small percentage of severely affected individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include a shortage of potassium (hypokalemia) and magnesium and a buildup of the hormone aldosterone (hyperaldosteronism) in the blood. The abnormal balance of molecules can raise the pH of the blood, which is known as metabolic alkalosis. The combination of features of these two conditions is sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two types of autosomal dominant hypocalcemia distinguished by their genetic cause. The signs and symptoms of the two types are generally the same.

OMIM : 56 Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. (601198)

UniProtKB/Swiss-Prot : 73 Hypocalcemia, autosomal dominant 1: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.

Related Diseases for Hypocalcemia, Autosomal Dominant 1

Diseases in the Hypocalcemia, Autosomal Dominant 1 family:

Hypocalcemia, Autosomal Dominant 2

Diseases related to Hypocalcemia, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 689)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, familial isolated, 1 33.2 PTH GCM2
2 pseudohypoparathyroidism, type ib 32.7 PTHLH PTH GNAS BGLAP
3 hypomagnesemia 3, renal 32.6 TRPM6 CLDN16
4 bartter disease 32.5 TRPM6 CLDN16 CASR
5 pseudohypoparathyroidism, type ia 32.5 PTHLH PTH PRKAR1A GNAS GNA11
6 hypoparathyroidism, sensorineural deafness, and renal disease 32.4 PTH GCM2 CASR
7 primary hypomagnesemia 32.3 TRPM6 PTH CLDN16
8 vitamin d-dependent rickets, type 2a 32.0 VDR CYP27B1
9 pseudohypoparathyroidism 32.0 PTHLH PTH PRKAR1A GNAS CALCA BGLAP
10 rickets 31.6 VDR PTH FGF23 CYP27B1 CASR CALCA
11 goiter 31.2 GNAS CALCA BGLAP
12 multinodular goiter 30.9 PTH GNAS CALCA
13 secondary hyperparathyroidism 30.8 VDR PTH FGF23 CYP27B1 CXADR CASR
14 graves disease 1 30.8 PTH CALCA ALB
15 mammary paget's disease 30.7 PTH CALCA BGLAP
16 hypercalciuria, absorptive, 2 30.7 VDR CLDN16 CASR
17 paraneoplastic syndromes 30.6 PTHLH FGF23
18 uremia 30.5 VDR PTH CASR ALB
19 familial isolated hypoparathyroidism 30.5 PTH GCM2 CASR
20 hyperthyroidism 30.5 PTH GNAS CALCA BGLAP ALB
21 adenoma 30.5 PTH PRKAR1A GNAS CASR
22 gitelman syndrome 30.4 TRPM6 CLDN16 CASR
23 metabolic acidosis 30.4 PTH FGF23 BGLAP ALB
24 thyroid gland disease 30.4 PTH GNAS CALCA ALB
25 paget's disease of bone 30.4 PTH CALCA BGLAP
26 autoimmune hypoparathyroidism 30.4 PRKAR1A CASR
27 hyperparathyroidism, neonatal severe 30.3 PRKAR1A CXADR CASR
28 parathyroid carcinoma 30.3 PTH CASR CALCA
29 substernal goiter 30.2 PTH CALCA
30 hypomagnesemia 1, intestinal 30.2 TRPM6 PTH CLDN16
31 hypothyroidism, congenital, nongoitrous, 1 30.2 PTH PRKAR1A GNAS
32 hypocalciuric hypercalcemia, familial, type i 30.2 PTH GNA11 CASR ADH4
33 calcinosis 30.1 GNAS FGF23 CALCA
34 brittle bone disorder 30.0 PTH CALCA BGLAP
35 bone disease 30.0 VDR PTHLH PTH FGF23 CASR CALCA
36 brachydactyly 30.0 PTHLH PTH PRKAR1A GNAS
37 multiple endocrine neoplasia, type i 30.0 PTH PRKAR1A GNAS CASR
38 pseudopseudohypoparathyroidism 30.0 PTHLH PTH PRKAR1A GNAS GNA11
39 osteogenic sarcoma 30.0 VDR PTHLH PTH BGLAP
40 calciphylaxis 30.0 VDR PTH FGF23 CASR ALB
41 conn's syndrome 29.9 PRKAR1A GNAS CALCA BGLAP
42 hypophosphatemia 29.9 VDR PTHLH PTH FGF23 CYP27B1 BGLAP
43 fanconi syndrome 29.9 PTH FGF23 ALB
44 osteitis fibrosa 29.9 PTH GNAS FGF23 CASR CALCA BGLAP
45 hypocalciuric hypercalcemia, familial, type ii 29.8 PTH GNA11 CASR ADH4
46 idiopathic hypercalciuria 29.8 VDR PRKAR1A CASR BGLAP
47 chronic kidney disease 29.8 VDR PTH GNAS FGF23 CYP27B1 CASR
48 bone resorption disease 29.8 VDR PTHLH PTH FGF23 CASR CALCA
49 hypercalcemia, infantile, 1 29.7 VDR PTHLH PTH CASR CALCA
50 osteomalacia 29.7 VDR PTHLH PTH FGF23 CYP27B1 CASR

Graphical network of the top 20 diseases related to Hypocalcemia, Autosomal Dominant 1:



Diseases related to Hypocalcemia, Autosomal Dominant 1

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant 1

Human phenotypes related to Hypocalcemia, Autosomal Dominant 1:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
2 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
3 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
4 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
5 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
6 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
7 emotional lability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000712
8 fatigable weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003473
9 writer's cramp 58 31 hallmark (90%) Very frequent (99-80%) HP:0002356
10 cortical myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0040148
11 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
12 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
13 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
14 abnormal pattern of respiration 58 31 frequent (33%) Frequent (79-30%) HP:0002793
15 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
16 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
17 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
18 hyperphosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0002905
19 hypomagnesemia 58 31 frequent (33%) Frequent (79-30%) HP:0002917
20 hypermagnesiuria 58 31 frequent (33%) Frequent (79-30%) HP:0012608
21 abnormal fingernail morphology 31 frequent (33%) HP:0001231
22 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
23 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
24 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
25 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
26 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
27 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
28 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
29 short stature 31 occasional (7.5%) HP:0004322
30 hypokalemia 31 occasional (7.5%) HP:0002900
31 increased circulating renin level 31 occasional (7.5%) HP:0000848
32 laryngospasm 31 occasional (7.5%) HP:0025425
33 behavioral abnormality 58 Very frequent (99-80%)
34 abnormality of the nail 58 Frequent (79-30%)
35 abnormality of the fingernails 58 Frequent (79-30%)
36 nephrolithiasis 31 HP:0000787
37 tetany 31 HP:0001281
38 muscle spasm 31 HP:0003394
39 abnormal renal physiology 31 HP:0012211
40 basal ganglia calcification 31 HP:0002135
41 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
paresthesias
calcification of the basal ganglia

Muscle Soft Tissue:
tetany
carpopedal spasm
muscle cramps

Growth Height:
short stature (rare)

Skeletal:
osteoarthritis, premature (rare)

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
hypercalciuria
decreased renal function

Endocrine Features:
hypomagnesemia
hypocalcemia, mild or severe
parathyroid hormone concentration low or low-normal
normal or mildly elevated serum phosphate
hypokalemia (rare)
more
Respiratory Larynx:
laryngospasm (rare)

Skeletal Spine:
increased bone mineral density of lumbar spine (rare)

Clinical features from OMIM:

601198

UMLS symptoms related to Hypocalcemia, Autosomal Dominant 1:


seizures, muscle cramp, carpopedal spasm

GenomeRNAi Phenotypes related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.89 PRKAR1A TRPM6
2 Decreased viability GR00221-A-2 9.89 PRKAR1A TRPM6
3 Decreased viability GR00221-A-3 9.89 PRKAR1A
4 Decreased viability GR00221-A-4 9.89 PRKAR1A TRPM6
5 Decreased viability GR00249-S 9.89 ALB
6 Decreased viability GR00381-A-1 9.89 ADH4 CALCA GNAS
7 Decreased viability GR00386-A-1 9.89 ADH1A ALB GNAS VDR
8 Decreased viability GR00402-S-2 9.89 CLDN16 CXADR
9 Increased the percentage of infected cells GR00402-S-1 8.32 TRPM6

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ALB BGLAP CASR CLDN16 CXADR CYP27B1
2 cellular MP:0005384 10.3 ALB BGLAP CASR CXADR CYP27B1 GCM2
3 endocrine/exocrine gland MP:0005379 10.29 ALB BGLAP CASR CXADR CYP27B1 FGF23
4 hematopoietic system MP:0005397 10.23 BGLAP CASR CXADR CYP27B1 FGF23 GNA11
5 immune system MP:0005387 10.18 ALB BGLAP CASR CXADR CYP27B1 FGF23
6 craniofacial MP:0005382 10.16 CYP27B1 GCM2 GNA11 GNAS PRKAR1A PTH
7 mortality/aging MP:0010768 10.07 ALB CASR CXADR FGF23 GCM2 GNA11
8 digestive/alimentary MP:0005381 10.04 ALB CASR CXADR FGF23 PRKAR1A PTHLH
9 integument MP:0010771 10.02 CASR CYP27B1 FGF23 GNA11 GNAS GRM1
10 limbs/digits/tail MP:0005371 9.92 CYP27B1 FGF23 GNA11 GNAS PTH PTHLH
11 muscle MP:0005369 9.76 ALB CASR CXADR GNA11 GNAS GRM1
12 renal/urinary system MP:0005367 9.7 ALB CASR CLDN16 CYP27B1 FGF23 GCM2
13 skeleton MP:0005390 9.44 BGLAP CASR CYP27B1 FGF23 GCM2 GNA11

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant 1

Drugs for Hypocalcemia, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 4 118072-93-8 68740
2
Calcium carbonate Approved, Investigational Phase 4 471-34-1
3
Foscarnet Approved Phase 4 4428-95-9, 63585-09-1 3415
4
Iodine Approved, Investigational Phase 4 7553-56-2 807
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
7
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
12
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
13 Antacids Phase 4
14 Anti-Ulcer Agents Phase 4
15 Dialysis Solutions Phase 4
16 Pharmaceutical Solutions Phase 4
17 Lugol's solution Phase 4
18 cadexomer iodine Phase 4
19 Citrate Phase 4
20 Calcium Supplement Phase 4
21 Anticoagulants Phase 4
22 calcium heparin Phase 4
23 Fibrinolytic Agents Phase 4
24 Hydroxycholecalciferols Phase 4
25 Gastrointestinal Agents Phase 4
26 Antineoplastic Agents, Hormonal Phase 4
27
protease inhibitors Phase 4
28 glucocorticoids Phase 4
29 Antiemetics Phase 4
30 HIV Protease Inhibitors Phase 4
31 Anti-Inflammatory Agents Phase 4
32 BB 1101 Phase 4
33
Calcium acetate Approved, Investigational Phase 3 62-54-4
34
carbamide peroxide Approved Phase 3 124-43-6
35
Denosumab Approved Phase 2, Phase 3 615258-40-7
36
Alendronate Approved Phase 2, Phase 3 66376-36-1, 121268-17-5 2088
37
Cinacalcet Approved Phase 3 226256-56-0 156419
38
Sevelamer Approved Phase 3 52757-95-6
39
Thrombin Approved, Investigational Phase 3
40
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
41
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
42
Choline Approved, Nutraceutical Phase 3 62-49-7 305
43
Calcitriol Approved, Nutraceutical Phase 2, Phase 3 32222-06-3 5280453 134070
44
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
45
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 5280795 6221
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
47
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
48
Fibrinolysin Investigational Phase 3 9004-09-5
49 Ibandronic Acid Phase 3
50 Ergocalciferols Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 155)
# Name Status NCT ID Phase Drugs
1 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
2 Comparison of Slow Efficiency Daily Dialysis (SLEDD) With Unfractionated Heparin Versus Citrasate in Critically Ill Patients. Unknown status NCT01228292 Phase 4 Unfractionated heparin;Citrasate
3 Can Alendronate Suppress Aortic and Coronary Artery Calcification and Improve Bone Mineral Density in Chronic Peritoneal Dialysis Patients? Unknown status NCT00299572 Phase 4 alendronate (Fosamax)
4 Post US Approval Voluntary Registry Study to Determine Incidence of Hypocalcemia Post Reclast® Treatment in Patients With Paget's Disease After Institution of Educational Strategies to Improve Adherence to Calcium and Vitamin D Supplementation Completed NCT00668200 Phase 4 Reclast (ZOL446, zoledronic acid)
5 Safety and Efficacy of Intravenous Magnesium Sulfate in Modulating Changes in Symptoms and Divalent Cation Levels Associated With Foscavir Therapy: A Phase IV Randomized, Double-Blind, Placebo-Controlled, Cross-Over, Pilot Study Completed NCT00002146 Phase 4 Magnesium sulfate;Foscarnet sodium
6 Citrate-based Regional Anticoagulation Versus Heparin for Continuous Renal Replacement Therapy in Critically Ill Patients With Acute Renal Failure: a Randomized Controlled Trial Completed NCT01269112 Phase 4
7 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
8 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy of Zoledronic Acid in Enhancement of Early Stability of Cementless Primary Hip Prosthesis Completed NCT01218035 Phase 4 zoledronic acid
9 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Recruiting NCT04012476 Phase 4 Indocyanine Green
10 Calcium Administration in Patients Undergoing Cardiac Surgery Under Cardiopulmonary Bypass (ICARUS Trial): Prospective Randomized, Double-blind Placebo-controlled Superiority Trial Recruiting NCT03772990 Phase 4 Calcium Chloride;0.9% Sodium Chloride
11 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
12 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
13 Prismaflex Therapeutic Plasma Exchange: Evaluation of Complication Rates Using Filter vs. Centrifuge and Heparin vs. Citrate Anticoagulation Active, not recruiting NCT04351438 Phase 4 Active comparator: Filter TPE with citrate
14 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Active, not recruiting NCT02999204 Phase 4 Vitamin D3
15 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).
16 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4 Glyburide;Insulin
17 Comparison of Total Parathyroidectomy With Autotransplantation Versus Total Parathyroidectomy Without Autotransplantation:A Randomized Clinical Trial Unknown status NCT02536287 Phase 3
18 Effect of Non-calcium Phosphate Binders Versus Calcium Based Binders on Chronic Kidney Disease -Mineral and Bone Disorder in Children on Regular Hemodialysis Unknown status NCT03202407 Phase 3 Calcium acetate and sevelamer hydrochloride
19 Zoledronate Versus Ibandronate Comparative Evaluation: A Randomized Phase III, Open-Label, Multicenter, Parallel Group Clinical Trial to Evaluate and Compare the Efficacy, Safety Profile and Tolerability of Oral Ibandronate Versus Intravenous Zoledronate in the Treatment of Breast Cancer Patients With Bone Metastases Unknown status NCT00326820 Phase 3 ibandronate sodium;zoledronic acid;Zolendronic Acid
20 Twelve-month, Multicenter, Intra-subject Controlled (Retrospective-prospective), Open-label, Active-treatment Study to Evaluate the Efficacy, Safety, Tolerability and Pharmacokinetics (PK) of Cinacalcet Hydrochloride for the Treatment of Secondary Hyperparathyroidism (SHPT) in Paediatric Subjects With Chronic Kidney Disease (CKD) on Dialysis, Followed by 12-month Study Extension. Unknown status NCT01479088 Phase 2, Phase 3 Cinacalcet HCl
21 Clinical Trial to Evaluate the Gastric Tolerability and Efficacy of the Food Supplement of Microencapsulated Calcium Carbonate vs Conventional Calcium Carbonate and Calcium Citrate Completed NCT03452696 Phase 3
22 A Multicenter, Multiple-dose, Single-arm Study to Switch Hemodialysis Subjects With Secondary Hyperparathyroidism From Oral Cinacalcet HCl to Intravenous AMG 416 Completed NCT01932970 Phase 3 Etelcalcetide
23 Prophylactic Central Lymph Node Dissection in Papillary Thyroid Microcarcinoma: A Prospective Randomized Controlled Trial Completed NCT00795782 Phase 3
24 A Multicenter Single-arm Extension Study to Describe the Long-term Efficacy and Safety of AMG 416 in the Treatment of Secondary Hyperparathyroidism in Subjects With Chronic Kidney Disease on Hemodialysis Completed NCT01785875 Phase 3 Etelcalcetide
25 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Assess the Efficacy and Safety of AMG 416 in the Treatment of Secondary Hyperparathyroidism in Subjects With Chronic Kidney Disease on Hemodialysis Completed NCT01785849 Phase 3 Etelcalcetide;Placebo
26 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Assess the Efficacy and Safety of AMG 416 in the Treatment of Secondary Hyperparathyroidism in Subjects With Chronic Kidney Disease on Hemodialysis Completed NCT01788046 Phase 3 Etelcalcetide;Placebo
27 Clinical Value of 18F -Fluorocholine (18F-FCH) PET in Localizing Parathyroid Lesions: Comparison With 99mTc-sestamibi (MIBI) Scan. Completed NCT03555487 Phase 3 18F-choline PET
28 Citrate Effects and Role of Prophylactic Magnesium Administration During Large-Volume Leukapheresis Completed NCT00040235 Phase 3
29 The Effect of Vitamin D and Calcium on Bone in Pediatric HIV Completed NCT00724178 Phase 2, Phase 3
30 Evaluation of the Efficacy and Tolerability of Alendronate Versus Denosumab in Kidney Transplant Patients With Reduced Bone Mineral Density Recruiting NCT04169698 Phase 2, Phase 3 Denosumab 60 mg/ml [Prolia];Alendronate 70Mg Tab
31 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)
32 RETIC Trial: Reversal of Trauma Induced Coagulopathy Using Coagulation Factor Concentrates or Fresh Frozen Plasma Terminated NCT01545635 Phase 3 Fibrinogen concentrate, Prothrombin complex concentrate and FXIII concentrate;Fresh Frozen Plasma blood type 0, A, B and AB
33 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
34 Cholecalciferol Supplementation in Critically Ill Patients With Severe Vitamin D Deficiency in Intensive Care Unit- A Randomized Controlled Trial. Terminated NCT02868827 Phase 2, Phase 3 Cholecalciferol
35 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
36 A Placebo-Controlled, Double-Blind Study to Examine the Use of Zemplar to Increase Serum Calcium Levels in ICU Subjects Completed NCT00053378 Phase 2 paricalcitol injection (Zemplar)
37 Phase 2 Study of Routine Oral Calcium and Vitamine D Supplements to Prevent Hypocalcemia After Total Thyroidectomy in Papillary Thyroid Carcinoma Patients Completed NCT00630214 Phase 2
38 A Double-Blind, Randomized, Placebo-Controlled, Multicenter Dose-Titration Study to Assess the Efficacy and Safety of Twice-Daily Dose Regimens of an Oral Calcimimetic Agent AMG 073 (Cinacalcet) in Primary Hyperparathyroidism (PHPT) Completed NCT00936650 Phase 2 placebo;cinacalcet
39 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
40 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
41 Rapid Normalization of Vitamin D in Critically Ill Children: A Phase II Dose Evaluation Randomized Controlled Trial Completed NCT02452762 Phase 2 Vitamin D3;Placebo
42 Denosumab (A Monoclonal Antibody to Receptor Activator of Nuclear Factor-Kappa B Ligand (RANKL) in Crohn's Disease Completed NCT02321280 Phase 1, Phase 2 Denosumab
43 Efficacy and Safety of Dengue Vaccine in Healthy Children Aged 4 to 11 Years in Thailand Completed NCT00842530 Phase 2
44 A Pilot Trial of Intravenous Pamidronate for Low Back Pain Completed NCT01210599 Phase 1, Phase 2 Pamidronate
45 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
46 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
47 Therapeutic Safety and Efficacy of REP 2139 (REP 9AC') in HBV Infected Patients Completed NCT02646189 Phase 1, Phase 2 REP 2139-Ca;Zadaxin;Pegasys
48 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 Phase 2
49 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
50 Denosumab for Smoldering Multiple Myeloma Recruiting NCT03839459 Phase 2 Denosumab

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant 1

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


Calcitriol
calcium acetate
Calcium Carbonate
CALCIUM CARBONATE 1 g in 1 g ORAL POWDER
Calcium Citrate
calcium glubionate
Calcium Glycerophosphate
calcium lactate
CALCIUM LEVULINATE
Calcium Pantothenate
calcium phosphate
Cod Liver Oil
Dihydrotachysterol

Cochrane evidence based reviews: hypocalcemia

Genetic Tests for Hypocalcemia, Autosomal Dominant 1

Genetic tests related to Hypocalcemia, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Hypocalcemia, Autosomal Dominant 1 29 CASR
2 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 29
3 Autosomal Dominant Hypocalcemia 29

Anatomical Context for Hypocalcemia, Autosomal Dominant 1

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant 1:

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

Publications for Hypocalcemia, Autosomal Dominant 1

Articles related to Hypocalcemia, Autosomal Dominant 1:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 61 54 6 56
17048213 2006
2
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. 61 56 6 54
15005845 2004
3
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 56 6 61 54
12574188 2003
4
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. 61 56 6 54
12191970 2002
5
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. 6 56 54 61
10770217 2000
6
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 56 6 61 54
9920108 1999
7
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 56 6 61
23802516 2013
8
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 56 6 61
16608894 2006
9
A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. 61 6 56
12050233 2002
10
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. 6 56 54
8813042 1996
11
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 56 6
12915654 2003
12
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 6 56
12241879 2002
13
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. 6 56
12107202 2002
14
Extracellular calcium sensing and extracellular calcium signaling. 56 6
11152759 2001
15
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. 56 6
10487661 1999
16
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. 6 56
9661634 1998
17
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. 56 6
9253358 1997
18
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. 6 56
8698326 1996
19
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. 56 6
8733126 1996
20
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 56 6
7874174 1994
21
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. 56 54 61
15347804 2004
22
Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? 56 54
11134112 2000
23
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. 6
24823460 2014
24
Germline mutations affecting Gα11 in hypoparathyroidism. 6
23802536 2013
25
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. 6
22422767 2012
26
Genetic developments in hypoparathyroidism. 56
11293637 2001
27
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. 56
7808841 1994
28
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. 6
6278146 1981
29
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 54 61
20119591 2010
30
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. 54 61
19063686 2009
31
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 61 54
19179454 2009
32
Inherited endocrine diseases involving G proteins and G protein-coupled receptors. 61 54
17986833 2007
33
[Calcium sensing receptor: physiology and pathology]. 61 54
16596058 2006
34
Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor. 61 54
16147994 2005
35
A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+. 54 61
15591042 2005
36
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. 54 61
15551332 2005
37
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. 54 61
15662592 2005
38
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. 54 61
15241791 2004
39
Bartter's and Gitelman's syndromes: from gene to clinic. 61 54
15056980 2004
40
A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. 61 54
14519094 2003
41
Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function. 54 61
12890593 2003
42
A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. 54 61
12733714 2003
43
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. 54 61
11889203 2002
44
[Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene]. 61 54
11857922 2002
45
[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone]. 61 54
15775479 2001
46
A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. 61 54
11289719 2001
47
Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. 54 61
11136551 2000
48
Effects of a calcimimetic compound and naturally activating mutations on the human Ca2+ receptor and on Ca2+ receptor/metabotropic glutamate chimeric receptors. 54 61
11089548 2000
49
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. 54 61
11013439 2000
50
Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor. 61 54
10835431 2000

Variations for Hypocalcemia, Autosomal Dominant 1

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 1:

6 (show top 50) (show all 645) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASR NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)indel Pathogenic 410326 rs1060502847 3:121973200-121973201 3:122254353-122254354
2 CASR NM_000388.4(CASR):c.658C>T (p.Arg220Trp)SNV Pathogenic 431804 rs1482119762 3:121980540-121980540 3:122261693-122261693
3 CASR NM_000388.4(CASR):c.1972del (p.Leu658fs)deletion Pathogenic 463917 rs1553768972 3:122002771-122002771 3:122283924-122283924
4 CASR NM_000388.4(CASR):c.733C>T (p.Gln245Ter)SNV Pathogenic 532576 rs1553766768 3:121980615-121980615 3:122261768-122261768
5 CASR NM_000388.4(CASR):c.679C>T (p.Arg227Ter)SNV Pathogenic 532618 rs1085307984 3:121980561-121980561 3:122261714-122261714
6 CASR NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)deletion Pathogenic 583082 rs1559956683 3:121976135-121976149 3:122257288-122257302
7 CASR NM_000388.4(CASR):c.446_447TC[3] (p.Thr151fs)short repeat Pathogenic 664654 3:121976187-121976188 3:122257340-122257341
8 CASR NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)indel Pathogenic 574086 rs1559956508 3:121975941-121975941 3:122257094-122257094
9 CASR NM_000388.4(CASR):c.166G>T (p.Glu56Ter)SNV Pathogenic 838073 3:121973202-121973202 3:122254355-122254355
10 CASR insertion Pathogenic 870267
11 CASR NM_000388.4(CASR):c.889G>A (p.Glu297Lys)SNV Pathogenic 8313 rs121909259 3:121980771-121980771 3:122261924-122261924
12 CASR NM_000388.4(CASR):c.554G>A (p.Arg185Gln)SNV Pathogenic 8314 rs104893689 3:121980436-121980436 3:122261589-122261589
13 CASR NM_000388.4(CASR):c.380A>C (p.Glu127Ala)SNV Pathogenic 8315 rs121909260 3:121976122-121976122 3:122257275-122257275
14 CASR NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)SNV Pathogenic 8318 rs104893690 3:122002546-122002546 3:122283699-122283699
15 CASR NM_000388.4(CASR):c.2043G>T (p.Gln681His)SNV Pathogenic 8320 rs121909261 3:122002844-122002844 3:122283997-122283997
16 CASR NM_000388.4(CASR):c.346G>A (p.Ala116Thr)SNV Pathogenic 8321 rs104893691 3:121976088-121976088 3:122257241-122257241
17 CASR NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)SNV Pathogenic 8322 rs104893693 3:122003218-122003218 3:122284371-122284371
18 CASR NM_000388.4(CASR):c.452C>T (p.Thr151Met)SNV Pathogenic 8323 rs104893694 3:121976194-121976194 3:122257347-122257347
19 CASR NM_000388.4(CASR):c.354C>A (p.Asn118Lys)SNV Pathogenic 8324 rs104893695 3:121976096-121976096 3:122257249-122257249
20 CASR NM_000388.4(CASR):c.382T>C (p.Phe128Leu)SNV Pathogenic 8325 rs104893696 3:121976124-121976124 3:122257277-122257277
21 CASR NM_000388.4(CASR):c.571G>A (p.Glu191Lys)SNV Pathogenic 8326 rs104893697 3:121980453-121980453 3:122261606-122261606
22 CASR NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)SNV Pathogenic 8327 rs104893698 3:122002636-122002636 3:122283789-122283789
23 CASR NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)SNV Pathogenic 8328 rs104893699 3:122003119-122003119 3:122284272-122284272
24 CASR NM_000388.4(CASR):c.680G>A (p.Arg227Gln)SNV Pathogenic 8331 rs28936684 3:121980562-121980562 3:122261715-122261715
25 CASR NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)SNV Pathogenic 8336 rs104893701 3:122003164-122003164 3:122284317-122284317
26 CASR NM_000388.4(CASR):c.141A>C (p.Lys47Asn)SNV Pathogenic 8337 rs104893702 3:121973177-121973177 3:122254330-122254330
27 CASR NM_000388.4(CASR):c.1846C>G (p.Leu616Val)SNV Pathogenic 8338 rs104893703 3:122002647-122002647 3:122283800-122283800
28 CASR NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)deletion Pathogenic 8339 rs1553769169 3:122003478-122004020 3:122284636-122285178
29 CASR NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)SNV Pathogenic 8343 rs104893706 3:122003329-122003329 3:122284482-122284482
30 CASR NM_000388.4(CASR):c.553C>T (p.Arg185Ter)SNV Pathogenic 8345 rs104893707 3:121980435-121980435 3:122261588-122261588
31 CASR NM_000388.4(CASR):c.374T>C (p.Leu125Pro)SNV Pathogenic 8346 rs104893708 3:121976116-121976116 3:122257269-122257269
32 CASR NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)SNV Pathogenic 8347 rs104893710 3:122003260-122003260 3:122284413-122284413
33 CASR NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)SNV Pathogenic 8348 rs104893711 3:122003163-122003163 3:122284316-122284316
34 CASR NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)SNV Pathogenic 8350 rs104893712 3:122002611-122002611 3:122283764-122283764
35 CASR NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)SNV Pathogenic 8354 rs104893718 3:122002981-122002981 3:122284134-122284134
36 CASR NM_000388.4(CASR):c.662C>T (p.Pro221Leu)SNV Pathogenic 60667 rs397514728 3:121980544-121980544 3:122261697-122261697
37 CASR NM_000388.4(CASR):c.164C>T (p.Pro55Leu)SNV Pathogenic 279731 rs886041154 3:121973200-121973200 3:122254353-122254353
38 CASR NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)SNV Pathogenic 280428 rs886041637 3:122000981-122000981 3:122282134-122282134
39 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
40 CASR NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)SNV Pathogenic 379932 rs1057520791 3:122003458-122003458 3:122284611-122284611
41 CASR NM_000388.4(CASR):c.514A>G (p.Arg172Gly)SNV Pathogenic 379844 rs201851934 3:121980396-121980396 3:122261549-122261549
42 CASR NM_000388.4(CASR):c.73C>T (p.Arg25Ter)SNV Pathogenic/Likely pathogenic 372315 rs201633414 3:121973109-121973109 3:122254262-122254262
43 CASR NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)SNV Pathogenic/Likely pathogenic 35778 rs193922423 3:121994806-121994806 3:122275959-122275959
44 CASR NM_000388.4(CASR):c.428G>A (p.Gly143Glu)SNV Pathogenic/Likely pathogenic 8333 rs121909264 3:121976170-121976170 3:122257323-122257323
45 CASR NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)SNV Pathogenic/Likely pathogenic 8312 rs121909258 3:122003184-122003184 3:122284337-122284337
46 CASR NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)SNV Likely pathogenic 8340 rs104893704 3:122003442-122003442 3:122284595-122284595
47 CASR NM_000388.4(CASR):c.413C>T (p.Thr138Met)SNV Likely pathogenic 8332 rs121909263 3:121976155-121976155 3:122257308-122257308
48 CASR NM_000388.4(CASR):c.1609-2A>GSNV Likely pathogenic 854168 3:122000958-122000958 3:122282111-122282111
49 CASR NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)SNV Likely pathogenic 853442 3:122002545-122002545 3:122283698-122283698
50 CASR NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)SNV Likely pathogenic 202205 rs794729230 3:122003283-122003283 3:122284436-122284436

UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant 1:

73 (show all 34)
# Symbol AA change Variation ID SNP ID
1 CASR p.Ala116Thr VAR_003588 rs104893691
2 CASR p.Glu127Ala VAR_003589 rs121909260
3 CASR p.Gln681His VAR_003598 rs121909261
4 CASR p.Phe806Ser VAR_003600 rs104893693
5 CASR p.Leu616Val VAR_015414 rs104893703
6 CASR p.Glu767Lys VAR_021019
7 CASR p.Lys47Asn VAR_058050 rs104893702
8 CASR p.Asn118Lys VAR_058051 rs104893695
9 CASR p.Leu125Pro VAR_058052 rs104893708
10 CASR p.Phe128Leu VAR_058053 rs104893696
11 CASR p.Cys131Trp VAR_058054 rs121909267
12 CASR p.Thr151Met VAR_058055 rs104893694
13 CASR p.Glu191Lys VAR_058058 rs104893697
14 CASR p.Glu604Lys VAR_058070 rs104893712
15 CASR p.Phe612Ser VAR_058071 rs104893698
16 CASR p.Leu727Gln VAR_058075 rs104893718
17 CASR p.Leu773Arg VAR_058078 rs104893699
18 CASR p.Phe788Cys VAR_058079 rs104893701
19 CASR p.Phe788Leu VAR_058080 rs886041537
20 CASR p.Ser820Phe VAR_058081 rs104893710
21 CASR p.Ala843Glu VAR_058082 rs104893706
22 CASR p.Ser122Cys VAR_078145
23 CASR p.Leu125Phe VAR_078146
24 CASR p.Cys129Arg VAR_078147
25 CASR p.Pro136Leu VAR_078148
26 CASR p.Pro221Leu VAR_078157 rs397514728
27 CASR p.Glu228Lys VAR_078159
28 CASR p.Pro569His VAR_078165
29 CASR p.Gln681Arg VAR_078171
30 CASR p.Asn802Ile VAR_078176
31 CASR p.Gly830Ser VAR_078179
32 CASR p.Phe832Leu VAR_078180
33 CASR p.Phe832Ser VAR_078181
34 CASR p.Ile839Thr VAR_078182

Expression for Hypocalcemia, Autosomal Dominant 1

Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant 1.

Pathways for Hypocalcemia, Autosomal Dominant 1

Pathways related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 PRKAR1A GNAS GNA11 CALCA
2
Show member pathways
12.18 PTHLH PTH GNAS CALCA
3 11.87 PTHLH PTH GNAS CALCA
4 11.76 VDR PRKAR1A GNA11 CASR ALB
5
Show member pathways
11.65 PRKAR1A GRM1 GNAS
6 11.62 GRM1 GNAS GNA11
7 11.41 GRM1 GNAS GNA11
8 11.35 VDR PTHLH PTH GNAS GNA11 GCM2
9 11.33 VDR PTH GNAS
10 11.21 VDR PTH CYP27B1 CALCA BGLAP
11 11.09 VDR PTHLH PTH PRKAR1A GNAS GNA11
12 10.73 GRM1 CASR
13 10.69 PTH FGF23 BGLAP
14 10.5 VDR PTH CYP27B1

GO Terms for Hypocalcemia, Autosomal Dominant 1

Cellular components related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 VDR PTHLH PRKAR1A GNAS GNA11 CYP27B1
2 cell GO:0005623 9.23 VDR PTH GRM1 GCM2 FGF23 CLDN16

Biological processes related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.09 PTHLH PTH GRM1 GNAS GNA11 CASR
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.73 PTHLH PTH GNAS CALCA
3 bone mineralization GO:0030282 9.67 PTHLH CYP27B1 BGLAP
4 ethanol oxidation GO:0006069 9.58 ADH4 ADH1A
5 regulation of bone mineralization GO:0030500 9.58 FGF23 CYP27B1 BGLAP
6 response to fibroblast growth factor GO:0071774 9.57 PTH CASR
7 cellular phosphate ion homeostasis GO:0030643 9.56 GCM2 FGF23
8 cellular calcium ion homeostasis GO:0006874 9.55 VDR PTH GCM2 CASR CALCA
9 phosphate ion homeostasis GO:0055062 9.54 PTH FGF23
10 response to vitamin D GO:0033280 9.54 PTH CYP27B1 BGLAP
11 alcohol metabolic process GO:0006066 9.52 ADH4 ADH1A
12 response to parathyroid hormone GO:0071107 9.51 PTH GNAS
13 cellular response to vitamin D GO:0071305 9.5 FGF23 CASR BGLAP
14 cAMP metabolic process GO:0046058 9.48 PTHLH PTH
15 vitamin D catabolic process GO:0042369 9.46 FGF23 CYP27B1
16 vitamin D metabolic process GO:0042359 9.43 VDR FGF23 CYP27B1
17 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.13 VDR FGF23 CYP27B1
18 skeletal system development GO:0001501 9.1 VDR PTHLH PTH GNAS GNA11 BGLAP

Molecular functions related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.4 VDR TRPM6 GNAS GNA11 GCM2 CYP27B1
2 guanyl nucleotide binding GO:0019001 9.32 GNAS GNA11
3 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
4 alcohol dehydrogenase (NAD) activity GO:0004022 9.16 ADH4 ADH1A
5 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.96 ADH4 ADH1A

Sources for Hypocalcemia, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
37 LifeMap
39 LOVD
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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