HYPOC1
MCID: HYP802
MIFTS: 68

Hypocalcemia, Autosomal Dominant 1 (HYPOC1)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological 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 57 72 29 6 70
Autosomal Dominant Hypocalcemia 12 43 58 29 15 70
Hypocalcemia, Autosomal Dominant 57 20 54
Hypoc1 57 12 72
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 57 29
Hypercalciuric Hypocalcemia 57 72
Familial Hypocalcemia 43 72
Hypocalcemia 44 70
Autosomal Dominant Hypocalcemia with Bartter Syndrome 72
Hypoparathyroidism - Autosomal Dominant 70
Autosomal Dominant Hypoparathyroidism 43
Familial Hypercalciuric Hypocalcemia 43
Autosomal Dominant Hypocalcemia 1 12
Hypocalcemia, Familial 57
Ad Hypocalcemia 58
Hypoc 12
Adh 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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.

MalaCards based summary : Hypocalcemia, Autosomal Dominant 1, also known as autosomal dominant hypocalcemia, is related to hypomagnesemia 1, intestinal and primary hypomagnesemia, 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 Sodium citrate and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related phenotypes are emotional lability and depressivity

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.

MedlinePlus Genetics : 43 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 671)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 1, intestinal 33.1 TRPM6 PTH CLDN16
2 primary hypomagnesemia 32.0 TRPM6 PTH CLDN16
3 hypoparathyroidism-retardation-dysmorphism syndrome 31.9 PTH GCM2 CASR
4 hypoparathyroidism, sensorineural deafness, and renal disease 31.9 PTH GCM2 CASR
5 pseudohypoparathyroidism, type ib 31.9 PTHLH PTH GNAS BGLAP
6 hypomagnesemia 3, renal 31.7 TRPM6 CLDN16
7 pseudohypoparathyroidism, type ia 31.7 PTHLH PTH PRKAR1A GNAS GNA11
8 vitamin d-dependent rickets 31.6 VDR PTH CYP27B1 BGLAP
9 vitamin d-dependent rickets, type 2a 31.6 VDR CYP27B1
10 bartter disease 31.5 TRPM6 PTH CLDN16 CASR ADH1A
11 pseudohypoparathyroidism 31.3 PTHLH PTH PRKAR1A GNAS CALCA BGLAP
12 goiter 31.0 GNAS CALCA BGLAP
13 hyperparathyroidism, neonatal severe 30.8 PRKAR1A CXADR CASR
14 multinodular goiter 30.7 PTH GNAS CALCA
15 secondary hyperparathyroidism 30.7 VDR PTH FGF23 CYP27B1 CXADR CASR
16 graves disease 1 30.6 PTH CALCA ALB
17 hypercalciuria, absorptive, 2 30.6 VDR CLDN16 CASR
18 mammary paget's disease 30.6 PTH CALCA BGLAP
19 hyperthyroidism 30.4 PTH GNAS CALCA BGLAP ALB
20 paraneoplastic syndromes 30.4 PTHLH FGF23
21 hypercalcemia, infantile, 1 30.4 VDR PTHLH PTH CASR CALCA
22 thyroid gland disease 30.4 PTH GNAS CALCA ALB
23 uremia 30.3 VDR PTH CASR ALB
24 autoimmune hypoparathyroidism 30.3 PRKAR1A CASR
25 metabolic acidosis 30.3 PTH FGF23 BGLAP ALB
26 familial isolated hypoparathyroidism 30.3 PTH GNA11 GCM2 CASR
27 gitelman syndrome 30.3 TRPM6 CLDN16 CASR
28 parathyroid carcinoma 30.2 PTH CASR CALCA
29 bone disease 30.1 VDR PTHLH PTH FGF23 CASR CALCA
30 hypocalciuric hypercalcemia, familial, type i 30.1 PTH GNA11 CASR ADH4 ADH1A
31 nephrolithiasis, calcium oxalate 30.1 VDR CLDN16 CASR
32 hypophosphatemia 30.0 VDR PTHLH PTH FGF23 CYP27B1 BGLAP
33 chief cell adenoma 30.0 PTH GCM2
34 multiple endocrine neoplasia 30.0 PTH PRKAR1A GNAS CALCA
35 bone resorption disease 30.0 VDR PTHLH PTH FGF23 CALCA BGLAP
36 adenoma 30.0 PTH PRKAR1A GNAS CASR
37 nephrolithiasis 30.0 VDR PTH FGF23 CLDN16 CASR BGLAP
38 hypothyroidism, congenital, nongoitrous, 1 29.9 PTH PRKAR1A GNAS
39 substernal goiter 29.9 PTH GCM2 CALCA
40 brachydactyly 29.9 PTHLH PTH PRKAR1A GNAS
41 pseudopseudohypoparathyroidism 29.9 PTHLH PTH PRKAR1A GNAS GNA11
42 calciphylaxis 29.9 VDR PTH FGF23 CASR ALB
43 hyperphosphatemia 29.9 VDR PTH GNAS GCM2 FGF23 CASR
44 calcinosis 29.8 GNAS FGF23 CALCA
45 conn's syndrome 29.8 PRKAR1A GNAS CALCA BGLAP
46 multiple endocrine neoplasia, type i 29.8 PTH PRKAR1A GNAS CASR
47 osteitis fibrosa 29.8 PTH GNAS FGF23 CASR CALCA BGLAP
48 osteomalacia 29.8 VDR PTHLH PTH FGF23 CYP27B1 CASR
49 parathyroid adenoma 29.8 VDR PTHLH PTH PRKAR1A GNAS GCM2
50 paget's disease of bone 29.8 VDR PTHLH PTH CASR CALCA BGLAP

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 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000712
2 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
3 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
6 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
7 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
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 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
12 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
13 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
14 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
15 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
16 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
17 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
18 abnormal pattern of respiration 58 31 frequent (33%) Frequent (79-30%) HP:0002793
19 hyperphosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0002905
20 hypomagnesemia 58 31 frequent (33%) Frequent (79-30%) HP:0002917
21 hypermagnesiuria 58 31 frequent (33%) Frequent (79-30%) HP:0012608
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 nephrolithiasis 31 HP:0000787
36 tetany 31 HP:0001281
37 muscle spasm 31 HP:0003394
38 abnormal renal physiology 31 HP:0012211
39 basal ganglia calcification 31 HP:0002135
40 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 ALB BGLAP CASR CLDN16 CXADR CYP27B1
2 cellular MP:0005384 10.29 ALB BGLAP CASR CXADR CYP27B1 GCM2
3 endocrine/exocrine gland MP:0005379 10.29 ALB BGLAP CASR CXADR CYP27B1 FGF23
4 craniofacial MP:0005382 10.24 CASR CXADR CYP27B1 GCM2 GNA11 GNAS
5 hematopoietic system MP:0005397 10.23 BGLAP CASR CXADR CYP27B1 FGF23 GNA11
6 immune system MP:0005387 10.18 ALB BGLAP CASR CXADR CYP27B1 FGF23
7 mortality/aging MP:0010768 10.07 ALB CASR CXADR FGF23 GCM2 GNA11
8 integument MP:0010771 10.02 CASR CYP27B1 FGF23 GNA11 GNAS GRM1
9 limbs/digits/tail MP:0005371 9.97 CXADR CYP27B1 FGF23 GNA11 GNAS PTH
10 muscle MP:0005369 9.76 ALB CASR CXADR GNA11 GNAS GRM1
11 renal/urinary system MP:0005367 9.73 ALB CASR CLDN16 CXADR CYP27B1 FGF23
12 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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Zoledronic Acid Approved Phase 4 118072-93-8 68740
3
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
4
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
5
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
10
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
11 Citrate Phase 4
12 Calcium Supplement Phase 4
13 Pharmaceutical Solutions Phase 4
14 Anti-Retroviral Agents Phase 4
15 Antiviral Agents Phase 4
16 Anti-Infective Agents Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Reverse Transcriptase Inhibitors Phase 4
19 Analgesics Phase 4
20 Tocolytic Agents Phase 4
21 Anticonvulsants Phase 4
22 calcium channel blockers Phase 4
23 Calcium, Dietary Phase 4
24 Gastrointestinal Agents Phase 4
25 Hormones Phase 4
26 Hydroxycholecalciferols Phase 4
27 Hormone Antagonists Phase 4
28 Antiemetics Phase 4
29 glucocorticoids Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 Anti-Inflammatory Agents Phase 4
32 Anesthetics Phase 4
33
protease inhibitors Phase 4
34 BB 1101 Phase 4
35 HIV Protease Inhibitors Phase 4
36
Calcium Nutraceutical Phase 4 7440-70-2 271
37
Calcium carbonate Approved, Investigational Phase 3 471-34-1
38
Cinacalcet Approved Phase 3 226256-56-0 156419
39
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
40
Sevelamer Approved Phase 3 52757-95-6
41
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
42
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
43
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
44 Trace Elements Phase 3
45 Nutrients Phase 3
46 Micronutrients Phase 3
47 Vitamin B9 Phase 3
48 Vasodilator Agents Phase 3
49 Antimetabolites Phase 3
50 Chelating Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 63)
# 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 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
3 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)
4 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
5 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).
6 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Recruiting NCT04012476 Phase 4 Indocyanine Green
7 The Use of Prophylactic Infusion of Calcium Gluconate Compared to Placebo in Reducing the Rate of Hypocalcaemia After Total Thyroidectomy: A Double-Blinded, Randomized Controlled Trial Recruiting NCT04491357 Phase 4 Calcium Gluconate;Normal saline
8 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
9 The Effect of Teriparatide on the Early Postoperative Hypocalcemia After Parathyroidectomy in Dialysis Patients: a Pilot, Randomized Trial Enrolling by invitation NCT04750460 Phase 3 Teriparatide
10 Study of Total Post-thyroidectomy Hypocalcemia After Preoperative Cholecalciferol Supplementation Not yet recruiting NCT04775381 Phase 3 Vitamin D
11 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
12 A Phase 2, Placebo-controlled, Randomized Study to Evaluate the Effect of Pre-operative Vitamin D Supplementation on Hypocalcemia Following Total or Near-total Thyroidectomy Unknown status NCT01868750 Phase 2
13 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
14 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
15 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
16 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
17 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)
18 A Phase IIb, Open-label Dose-ranging Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics, and Efficacy of CLTX-305 in Autosomal Dominant Hypocalcemia (ADH) Type 1 Recruiting NCT04581629 Phase 2 CLTX-305
19 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
20 Pilot Study of Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
21 A Phase II Study of Short-Term Use of Teriparatide (Forteo) in the Treatment of Patients With Postoperative Hypocalcemia Terminated NCT00623974 Phase 2 Teriparatide (Forteo);Calcium;Calcitriol
22 Studies With 1,25-Dihydroxycholecalciferol Terminated NCT00001151 Phase 2 1,25-Dihydroxycholecalciferol
23 Effect of CTAP101 Capsules on Serum Calcium, Plasma Intact Parathyroid Hormone and Vitamin D Metabolites in Patients With Advanced Breast or Prostate Carcinomas With Metastases to Bone and Receiving Ongoing Therapy With Denosumab or Zoledronic Acid Completed NCT02274623 Phase 1 CTAP101 Capsules
24 A Dose Finding Study of CycloSam® (153Sm-DOTMP) Combined With External Beam Radiotherapy to Treat High Risk Osteosarcoma and Other Solid Tumors Metastatic to Bone Not yet recruiting NCT03612466 Phase 1 153Sm-DOTMP;Calcium Carbonate;Mozobil;Neupogen Injectable Product
25 The Study of a Safe and Cost-effective Method to Identify Patients at Low Risk for the Development of Significant Hypocalcemia After Total Thyroidectomy. Unknown status NCT01027091
26 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Unknown status NCT02551120
27 Prognosis Association of Hypocalcemia on Moderate-severe TBI, COHORTE STUDY Unknown status NCT01236911
28 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
29 Early Prediction of Hypocalcemia After Thyroidectomy Using Postoperative Second Hour Parathormone Unknown status NCT03717116
30 Profile of Hypocalcemia in Infants and Children Admitted to Assiut University Children Hospital Unknown status NCT03685877
31 Effect of Treatment of Vitamin D Deficiency During Pregnancy on Hypocalcemia Unknown status NCT02021864 vitamin D3 50,000 unit;prenatal multivitamin
32 The Impact of Vitamin D Deficiency on Hypocalcaemia Following Total Thyroidectomy Unknown status NCT03063060
33 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
34 Intra-operative Rapid Identification of Lymph Node and Parathyroid by Fine Needle Puncture for Thyroid Carcinoma Unknown status NCT03268785
35 Implementation of PTH Measurement Intra / Post Thyroidectomy to Improve Post Surgical Safety in Pediatric Patients Completed NCT04690842
36 Inulin- a Potential Preventive Dietary Supplement Against PPI Induced Hypomagnesemia Completed NCT02518659
37 Predicting Risk Factors of Postoperative Hypocalcemia After Total Thyroidectomy: is Safe Discharge Without Supplementation Possible? Completed NCT04372225
38 Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
39 Changes in Circulating Sclerostin Levels During Acute Postsurgical Hypoparathyroidism Completed NCT04146259 calcium carbonate and alphacalcidol
40 Does Preoperative Calcium and Calcitriol Decrease Rates of Post Thyroidectomy Hypocalcemia? Completed NCT03869398
41 Hypomagnesemia and Hypocalcemia Association Following Thyroidectomy Completed NCT04351451
42 Routine Low-dose Calcium and Vitamin D Supplementation for Preventing Symptomatic Postthyroidectomy Hypocalcemia Completed NCT03484416 Calcium Carbonate 1500 Mg with Vitamin D
43 Parathyroid Autofluorescence Visualization in Thyroid Surgery: Impact on Postoperative Hypocalcemia. A Randomized Controlled Trial Completed NCT02892253
44 Parathyroid Autofluorescence Visualization During Thyroid Surgery: Impact on Postoperative Hypocalcemia Completed NCT02889952
45 Early Prediction of Hypocalcaemia Following Thyroid Surgery: A Prospective Randomized Clinical Trial Completed NCT02853721
46 Effects of Cord Blood 25-hydroxy-vitamin D Level on Early Neonatal Morbidities Completed NCT02147327
47 Calcium and Vitamin D Intakes in Children Completed NCT01638494
48 Randomised Control Trial on the Use of Prophylactic Steroids in the Prevention of Post-thyroidectomy Hypocalcaemia and Voice Dysfunction Completed NCT04752852 Dexamethasone;Placebo
49 Hypomagnesemia Associated With Proton-Pump Inhibitor Use Completed NCT04426994 proton pump inhibitor use
50 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 68Ga-Dotatate;18F-DOPA

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Eye, Bone, Thyroid, Liver, Heart, Lymph Node

Publications for Hypocalcemia, Autosomal Dominant 1

Articles related to Hypocalcemia, Autosomal Dominant 1:

(show top 50) (show all 327)
# Title Authors PMID Year
1
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 61 54 57 6
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 57 6 54
15005845 2004
3
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 54 61 6 57
12574188 2003
4
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. 54 6 61 57
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 57 61 54
10770217 2000
6
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 6 57 61 54
9920108 1999
7
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 61 57 6
16608894 2006
8
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. 57 6 61
12050233 2002
9
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? 6 57 54
11134112 2000
10
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. 6 57 54
8813042 1996
11
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 6 57
12915654 2003
12
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 57 6
12241879 2002
13
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. 57 6
12107202 2002
14
Extracellular calcium sensing and extracellular calcium signaling. 6 57
11152759 2001
15
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. 6 57
10487661 1999
16
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. 57 6
9661634 1998
17
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. 57 6
9253358 1997
18
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. 57 6
8698326 1996
19
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. 57 6
8733126 1996
20
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 57 6
7874174 1994
21
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 6 61 54
19179454 2009
22
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. 61 54 57
15347804 2004
23
Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function. 54 6 61
12890593 2003
24
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. 61 54 6
11889203 2002
25
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. 57 61
32386559 2020
26
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. 6 61
26646938 2016
27
Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. 61 6
24297799 2014
28
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 57 61
23802516 2013
29
Calcium-sensing receptor and associated diseases. 6 61
20374733 2009
30
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 61 6
8702647 1996
31
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. 6
31672324 2019
32
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. 6
30407919 2019
33
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. 6
28176280 2017
34
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. 6
27666534 2016
35
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases. 6
27390877 2016
36
Structural mechanism of ligand activation in human calcium-sensing receptor. 6
27434672 2016
37
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. 6
26963950 2016
38
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 6
25766501 2015
39
Towards tissue-specific pharmacology: insights from the calcium-sensing receptor as a paradigm for GPCR (patho)physiological bias. 6
25765207 2015
40
Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. 6
25091521 2015
41
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 6
26161261 2015
42
Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy. 6
24763815 2014
43
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 6
25104082 2014
44
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia. 6
24947037 2014
45
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. 6
24823460 2014
46
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 6
24203066 2014
47
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. 6
23966241 2013
48
Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR). 6
23764372 2013
49
Germline mutations affecting Gα11 in hypoparathyroidism. 6
23802536 2013
50
Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators. 6
23372019 2013

Variations for Hypocalcemia, Autosomal Dominant 1

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 1:

6 (show top 50) (show all 907)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASR NM_000388.4(CASR):c.2043G>T (p.Gln681His) SNV Pathogenic 8320 rs121909261 GRCh37: 3:122002844-122002844
GRCh38: 3:122283997-122283997
2 CASR NM_000388.4(CASR):c.346G>A (p.Ala116Thr) SNV Pathogenic 8321 rs104893691 GRCh37: 3:121976088-121976088
GRCh38: 3:122257241-122257241
3 CASR NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) SNV Pathogenic 8322 rs104893693 GRCh37: 3:122003218-122003218
GRCh38: 3:122284371-122284371
4 CASR NM_000388.4(CASR):c.452C>T (p.Thr151Met) SNV Pathogenic 8323 rs104893694 GRCh37: 3:121976194-121976194
GRCh38: 3:122257347-122257347
5 CASR NM_000388.4(CASR):c.354C>A (p.Asn118Lys) SNV Pathogenic 8324 rs104893695 GRCh37: 3:121976096-121976096
GRCh38: 3:122257249-122257249
6 CASR NM_000388.4(CASR):c.382T>C (p.Phe128Leu) SNV Pathogenic 8325 rs104893696 GRCh37: 3:121976124-121976124
GRCh38: 3:122257277-122257277
7 CASR NM_000388.4(CASR):c.571G>A (p.Glu191Lys) SNV Pathogenic 8326 rs104893697 GRCh37: 3:121980453-121980453
GRCh38: 3:122261606-122261606
8 CASR NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) SNV Pathogenic 8327 rs104893698 GRCh37: 3:122002636-122002636
GRCh38: 3:122283789-122283789
9 CASR NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) SNV Pathogenic 8328 rs104893699 GRCh37: 3:122003119-122003119
GRCh38: 3:122284272-122284272
10 CASR NM_000388.4(CASR):c.141A>C (p.Lys47Asn) SNV Pathogenic 8337 rs104893702 GRCh37: 3:121973177-121973177
GRCh38: 3:122254330-122254330
11 CASR NM_000388.4(CASR):c.1846C>G (p.Leu616Val) SNV Pathogenic 8338 rs104893703 GRCh37: 3:122002647-122002647
GRCh38: 3:122283800-122283800
12 CASR NM_000388.4(CASR):c.393C>G (p.Cys131Trp) SNV Pathogenic 8344 rs121909267 GRCh37: 3:121976135-121976135
GRCh38: 3:122257288-122257288
13 CASR NM_000388.4(CASR):c.374T>C (p.Leu125Pro) SNV Pathogenic 8346 rs104893708 GRCh37: 3:121976116-121976116
GRCh38: 3:122257269-122257269
14 CASR NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) SNV Pathogenic 8347 rs104893710 GRCh37: 3:122003260-122003260
GRCh38: 3:122284413-122284413
15 CASR NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) SNV Pathogenic 8348 rs104893711 GRCh37: 3:122003163-122003163
GRCh38: 3:122284316-122284316
16 CASR NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) SNV Pathogenic 8354 rs104893718 GRCh37: 3:122002981-122002981
GRCh38: 3:122284134-122284134
17 CASR NM_000388.4(CASR):c.662C>T (p.Pro221Leu) SNV Pathogenic 60667 rs397514728 GRCh37: 3:121980544-121980544
GRCh38: 3:122261697-122261697
18 CASR NM_000388.4(CASR):c.85A>G (p.Lys29Glu) SNV Pathogenic 60669 rs397514729 GRCh37: 3:121973121-121973121
GRCh38: 3:122254274-122254274
19 CASR NM_000388.4(CASR):c.374T>C (p.Leu125Pro) SNV Pathogenic 8346 rs104893708 GRCh37: 3:121976116-121976116
GRCh38: 3:122257269-122257269
20 CASR NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) Deletion Pathogenic 8339 rs1553769169 GRCh37: 3:122003478-122004020
GRCh38: 3:122284636-122285178
21 CASR NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) SNV Pathogenic 8343 rs104893706 GRCh37: 3:122003329-122003329
GRCh38: 3:122284482-122284482
22 CASR NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) SNV Pathogenic 8343 rs104893706 GRCh37: 3:122003329-122003329
GRCh38: 3:122284482-122284482
23 CASR NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) SNV Pathogenic 975963 GRCh37: 3:121976128-121976128
GRCh38: 3:122257281-122257281
24 CASR NM_000388.4(CASR):c.379G>A (p.Glu127Lys) SNV Pathogenic 977805 GRCh37: 3:121976121-121976121
GRCh38: 3:122257274-122257274
25 CASR NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) SNV Pathogenic 978027 GRCh37: 3:122003230-122003230
GRCh38: 3:122284383-122284383
26 CASR NM_000388.4(CASR):c.733C>T (p.Gln245Ter) SNV Pathogenic 532576 rs1553766768 GRCh37: 3:121980615-121980615
GRCh38: 3:122261768-122261768
27 CASR NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) Indel Pathogenic 574086 rs1559956508 GRCh37: 3:121975941-121975941
GRCh38: 3:122257094-122257094
28 CASR NM_000388.4(CASR):c.889G>A (p.Glu297Lys) SNV Pathogenic 8313 rs121909259 GRCh37: 3:121980771-121980771
GRCh38: 3:122261924-122261924
29 CASR NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) Deletion Pathogenic 583082 rs1559956683 GRCh37: 3:121976135-121976149
GRCh38: 3:122257288-122257302
30 GNA11 NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) SNV Pathogenic 60663 rs587777020 GRCh37: 19:3115007-3115007
GRCh38: 19:3115009-3115009
31 GNA11 NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) SNV Pathogenic 60664 rs140749796 GRCh37: 19:3121120-3121120
GRCh38: 19:3121122-3121122
32 GNA11 NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) SNV Pathogenic 60665 rs587777021 GRCh37: 19:3110188-3110188
GRCh38: 19:3110190-3110190
33 GNA11 NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) SNV Pathogenic 60666 rs587777022 GRCh37: 19:3118948-3118948
GRCh38: 19:3118950-3118950
34 GNA11 NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) SNV Pathogenic 155926 rs587777707 GRCh37: 19:3110189-3110189
GRCh38: 19:3110191-3110191
35 CASR NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) Indel Pathogenic 410326 rs1060502847 GRCh37: 3:121973200-121973201
GRCh38: 3:122254353-122254354
36 CASR NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) SNV Pathogenic 8318 rs104893690 GRCh37: 3:122002546-122002546
GRCh38: 3:122283699-122283699
37 CASR NM_000388.4(CASR):c.680G>A (p.Arg227Gln) SNV Pathogenic 8331 rs28936684 GRCh37: 3:121980562-121980562
GRCh38: 3:122261715-122261715
38 CASR NM_000388.4(CASR):c.1972del (p.Leu658fs) Deletion Pathogenic 463917 rs1553768972 GRCh37: 3:122002771-122002771
GRCh38: 3:122283924-122283924
39 CASR NM_000388.4(CASR):c.446_447TC[3] (p.Thr151fs) Microsatellite Pathogenic 664654 rs1576854561 GRCh37: 3:121976187-121976188
GRCh38: 3:122257340-122257341
40 CASR NM_000388.4(CASR):c.166G>T (p.Glu56Ter) SNV Pathogenic 838073 GRCh37: 3:121973202-121973202
GRCh38: 3:122254355-122254355
41 CASR NM_000388.4(CASR):c.553C>T (p.Arg185Ter) SNV Pathogenic 8345 rs104893707 GRCh37: 3:121980435-121980435
GRCh38: 3:122261588-122261588
42 CASR Insertion Pathogenic 870267 GRCh37:
GRCh38:
43 CASR NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) SNV Pathogenic 935768 GRCh37: 3:122003457-122003457
GRCh38: 3:122284610-122284610
44 CASR NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) SNV Pathogenic 941127 GRCh37: 3:122002784-122002784
GRCh38: 3:122283937-122283937
45 CASR NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) Duplication Pathogenic 950326 GRCh37: 3:122002697-122002698
GRCh38: 3:122283850-122283851
46 CASR NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) SNV Pathogenic 410346 rs1060502856 GRCh37: 3:122003194-122003194
GRCh38: 3:122284347-122284347
47 CASR NM_000388.4(CASR):c.108dup (p.Leu37fs) Duplication Pathogenic 280657 rs886041823 GRCh37: 3:121973138-121973139
GRCh38: 3:122254291-122254292
48 CASR NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) SNV Pathogenic 451182 rs1553769120 GRCh37: 3:122003266-122003266
GRCh38: 3:122284419-122284419
49 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
50 CASR NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) Deletion Pathogenic 945014 GRCh37: 3:122002809-122002810
GRCh38: 3:122283962-122283963

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

72 (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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 PRKAR1A GNAS GNA11 CALCA
2
Show member pathways
12.2 PTHLH PTH GNAS CALCA
3 12.16 GRM1 GNAS GNA11 FGF23
4 11.87 PTHLH PTH GNAS CALCA
5 11.76 VDR PRKAR1A GNA11 CASR ALB
6
Show member pathways
11.66 PRKAR1A GRM1 GNAS
7 11.63 GRM1 GNAS GNA11
8 11.55 PRKAR1A GNAS GNA11 FGF23
9 11.41 GRM1 GNAS GNA11
10 11.35 VDR PTHLH PTH GNAS GNA11 GCM2
11 11.33 VDR PTH GNAS
12 11.21 VDR PTH CYP27B1 CALCA BGLAP
13 11.09 VDR PTHLH PTH PRKAR1A GNAS GNA11
14 10.74 GRM1 CASR
15 10.69 PTH FGF23 BGLAP
16 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 9.5 VDR PTHLH PRKAR1A GNAS GNA11 FGF23

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 10.1 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 cellular phosphate ion homeostasis GO:0030643 9.57 GCM2 FGF23
7 response to fibroblast growth factor GO:0071774 9.55 PTH CASR
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 protein binding GO:0005515 10.3 VDR TRPM6 PTHLH PTH PRKAR1A GRM1
2 metal ion binding GO:0046872 9.4 VDR TRPM6 GNAS GNA11 GCM2 CYP27B1
3 guanyl nucleotide binding GO:0019001 9.37 GNAS GNA11
4 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
5 alcohol dehydrogenase (NAD) activity GO:0004022 9.16 ADH4 ADH1A
6 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....