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
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Aliases & Classifications for Hypocalcemia, Autosomal Dominant 1

MalaCards integrated aliases for Hypocalcemia, Autosomal Dominant 1:

Name: Hypocalcemia, Autosomal Dominant 1 57 73 71
Autosomal Dominant Hypocalcemia 11 42 58 28 5 14 71
Autosomal Dominant Hypocalcemia 1 11 28 5 14
Hypocalcemia, Autosomal Dominant 57 19 53
Hypoc1 57 11 73
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 57 28
Hypercalciuric Hypocalcemia 57 73
Familial Hypocalcemia 42 73
Autosomal Dominant Hypocalcemia with Bartter Syndrome 73
Hypoparathyroidism - Autosomal Dominant 71
Autosomal Dominant Hypoparathyroidism 42
Familial Hypercalciuric Hypocalcemia 42
Hypocalcemia, Familial 57
Ad Hypocalcemia 58
Hypocalcemia 71
Hypoc 11
Adh 42

Characteristics:


Inheritance:

Hypocalcemia, Autosomal Dominant 1: Autosomal dominant 57
Autosomal Dominant Hypocalcemia: Autosomal dominant 58

Prevelance:

Autosomal Dominant Hypocalcemia: 1-9/100000 (United States) 58

Age Of Onset:

Autosomal Dominant Hypocalcemia: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
some patients have asymptomatic hypocalcemia


Classifications:

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


Summaries for Hypocalcemia, Autosomal Dominant 1

MedlinePlus Genetics: 42 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.

MalaCards based summary: Hypocalcemia, Autosomal Dominant 1, also known as autosomal dominant hypocalcemia, is related to hyperparathyroidism, neonatal severe and hypophosphatemic rickets, autosomal dominant, 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 Signal Transduction and GPCR downstream signalling. The drugs Zoledronic acid and Magnesium sulfate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are emotional lability and depression

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Autosomal dominant hypocalcemia 1: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.

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

GARD: 19 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.

Orphanet: 58 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.

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 432)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism, neonatal severe 30.7 PRKAR1A CXADR CASR
2 hypophosphatemic rickets, autosomal dominant 30.7 PTH FGF23 CYP27B1
3 bartter disease 30.5 TRPM6 PTH CLDN16 CLDN14 CASR
4 hypercalciuria, absorptive, 2 30.4 VDR CLDN16 CASR
5 hypocalciuric hypercalcemia, familial, type i 30.4 PTH GNA11 CASR
6 nephrolithiasis 30.3 VDR PTH FGF23 CLDN16 CASR
7 hypocalciuric hypercalcemia, familial, type iii 30.2 PTH GNA11 GCM2 CASR
8 paraneoplastic syndromes 30.2 PTHLH FGF23
9 nephrocalcinosis 30.1 GNA11 CLDN16 CASR ALB
10 hypercalcemia, infantile, 1 30.1 VDR PTHLH PTH CASR CALCA
11 familial isolated hypoparathyroidism 30.0 PTH GNA11 GCM2 CASR ADH1A
12 adenoma 30.0 PTH PRKAR1A GNAS CASR
13 familial hypocalciuric hypercalcemia 29.9 PTHLH PTH GNA11 GCM2 CXADR CLDN16
14 hyperphosphatemia 29.5 VDR PTH GNAS GCM2 FGF23 CASR
15 hypoparathyroidism 29.1 VDR PTHLH PTH PRKAR1A GNAS GNA11
16 hypertension, essential 29.1 VDR PTH GNAS FGF23 CASR CALCA
17 rickets 28.9 VDR PTH FGF23 CYP27B1 CASR CALCA
18 conn's syndrome 28.8 TRPM6 PTH PRKAR1A GNAS GNA11 CASR
19 hyperparathyroidism 28.8 VDR PTHLH PTH PRKAR1A GCM2 FGF23
20 chronic kidney disease 28.3 VDR PTH FGF23 CYP27B1 CLDN16 CASR
21 primary hyperparathyroidism 28.0 VDR PTHLH PTH PRKAR1A GNA11 GCM2
22 kidney disease 27.9 VDR PTH GNAS FGF23 CYP27B1 CXADR
23 osteoporosis 27.8 VDR PTHLH PTH PRKAR1A GNAS FGF23
24 inappropriate adh syndrome 11.6
25 hypocalcemia, autosomal dominant 2 11.5
26 nephrogenic diabetes insipidus 11.5
27 syndrome of inappropriate antidiuretic hormone 11.4
28 central diabetes insipidus 11.3
29 diabetes insipidus, nephrogenic, 2, autosomal 11.3
30 diabetes insipidus, nephrogenic, 1, x-linked 10.9
31 hypothalamic disease 10.9
32 ethylene glycol poisoning 10.9
33 methanol poisoning 10.9
34 diabetes insipidus 10.6
35 alcohol dependence 10.5
36 alcohol use disorder 10.5
37 tetanic cataract 10.3 PTH CALCA
38 meningeal melanocytoma 10.3 PRKAR1A GNA11
39 chief cell adenoma 10.3 PTH GCM2
40 vitamin d-dependent rickets type 2b 10.3 FGF23 CYP27B1
41 hypoparathyroidism-deafness-renal disease syndrome 10.3 PTH GCM2 CASR
42 substernal goiter 10.3 PTH CALCA
43 kenny-caffey syndrome 10.3 PTH GCM2 CASR
44 chondrocalcinosis 10.3 PTH GNA11 CASR
45 hypoparathyroidism-retardation-dysmorphism syndrome 10.3 PTH GCM2 CASR
46 kohler's disease 10.3 PTH CALCA
47 melanotic neurilemmoma 10.3 PRKAR1A GNA11
48 isthmus cancer 10.3 PTH CALCA
49 endometrial mucinous adenocarcinoma 10.3 GNAS GNA11
50 secondary hyperparathyroidism of renal origin 10.3 PTH ALB

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 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000712
2 depression 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000716
3 anxiety 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000739
4 emg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003457
5 hypercalciuria 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002150
6 paresthesia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003401
7 hypocalcemia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002901
8 fatigable weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003473
9 writer's cramp 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002356
10 cortical myoclonus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0040148
11 hypotension 58 30 Frequent (33%) Frequent (79-30%)
HP:0002615
12 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
13 abnormal fingernail morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001231
14 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
15 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
16 arrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011675
17 nephrocalcinosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000121
18 abnormal pattern of respiration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002793
19 hyperphosphatemia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002905
20 hypomagnesemia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002917
21 hypermagnesiuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0012608
22 increased intracranial pressure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002516
23 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
24 reduced consciousness/confusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004372
25 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
26 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
27 eczema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000964
28 irregular hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007400
29 short stature 30 Occasional (7.5%) HP:0004322
30 hypokalemia 30 Occasional (7.5%) HP:0002900
31 increased circulating renin level 30 Occasional (7.5%) HP:0000848
32 seizure 30 Very rare (1%) HP:0001250
33 nephrolithiasis 30 Very rare (1%) HP:0000787
34 tetany 30 Very rare (1%) HP:0001281
35 decreased glomerular filtration rate 30 Very rare (1%) HP:0012213
36 muscle spasm 30 Very rare (1%) HP:0003394
37 laryngospasm 30 Very rare (1%) HP:0025425
38 basal ganglia calcification 30 Very rare (1%) HP:0002135
39 decreased circulating parathyroid hormone level 30 Very rare (1%) HP:0031817
40 behavioral abnormality 58 Very frequent (99-80%)
41 abnormality of the nail 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Kidneys:
nephrolithiasis
nephrocalcinosis
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
Growth Height:
short stature (rare)

Skeletal:
osteoarthritis, premature (rare)

Muscle Soft Tissue:
tetany
carpopedal spasm
muscle cramps

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

Respiratory Larynx:
laryngospasm (rare)

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

Clinical features from OMIM®:

601198 (Updated 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ADH1A ALB BGLAP CALCA CARS1 CASR
2 no effect GR00402-S-2 10.18 ADH1A ALB BGLAP CALCA CARS1 CASR

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant 1:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 ADH1A ALB BGLAP CALCA CASR CLDN16
2 renal/urinary system MP:0005367 10.39 ALB CALCA CASR CLDN16 CXADR CYP27B1
3 growth/size/body region MP:0005378 10.31 ADH1A CASR CXADR CYP27B1 FGF23 GNA11
4 nervous system MP:0003631 10.3 CALCA CASR CLDN14 CXADR GCM2 GNA11
5 endocrine/exocrine gland MP:0005379 10.29 ALB BGLAP CASR CXADR CYP27B1 FGF23
6 cellular MP:0005384 10.18 ALB BGLAP CASR CXADR CYP27B1 GCM2
7 behavior/neurological MP:0005386 10.15 CALCA CASR CLDN14 CXADR CYP27B1 GNA11
8 muscle MP:0005369 10.14 ALB CASR CXADR GNA11 GNAS GRM1
9 limbs/digits/tail MP:0005371 10.13 CYP27B1 FGF23 GNA11 GNAS PRKAR1A PTH
10 immune system MP:0005387 10.1 ALB BGLAP CASR CXADR CYP27B1 FGF23
11 skeleton MP:0005390 10.1 BGLAP CALCA CASR CYP27B1 FGF23 GCM2
12 craniofacial MP:0005382 10.09 CYP27B1 GCM2 GNA11 GNAS PRKAR1A PTH
13 digestive/alimentary MP:0005381 10.06 ALB CASR CXADR FGF23 GNAS PRKAR1A
14 hematopoietic system MP:0005397 9.93 BGLAP CASR CXADR CYP27B1 FGF23 GNA11
15 mortality/aging MP:0010768 9.83 ADH1A ALB CALCA CASR CXADR FGF23
16 integument MP:0010771 9.32 CALCA CASR CYP27B1 FGF23 GNA11 GNAS

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 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic acid Approved Phase 4 118072-93-8 68740
2
Magnesium sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9
3
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
4
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
7
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
8
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
9
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
10 Pharmaceutical Solutions Phase 4
11 Antiviral Agents Phase 4
12 Anti-Infective Agents Phase 4
13 Anti-Arrhythmia Agents Phase 4
14 Anticonvulsants Phase 4
15 calcium channel blockers Phase 4
16 Analgesics Phase 4
17 Reverse Transcriptase Inhibitors Phase 4
18 Tocolytic Agents Phase 4
19 Calcium, Dietary Phase 4
20 Vitamins Phase 4
21 Hormones Phase 4
22 Calciferol Phase 4
23 Hydroxycholecalciferols Phase 4
24 Gastrointestinal Agents Phase 4
25 Antineoplastic Agents, Hormonal Phase 4
26 Hormone Antagonists Phase 4
27 Antiemetics Phase 4
28 glucocorticoids Phase 4
29 Anesthetics Phase 4
30 Anti-Inflammatory Agents Phase 4
31 HIV Protease Inhibitors Phase 4
32 BB 1101 Phase 4
33
protease inhibitors Phase 4
34
Calcium Nutraceutical Phase 4 7440-70-2 271
35
Calcium carbonate Approved, Investigational Phase 3 471-34-1
36
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
37
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
38
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
39 Calcium Supplement Phase 3
40 Citrate Phase 3
41
Amiloride Approved Phase 2 17440-83-4, 2016-88-8, 2609-46-3 16231
42
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
43
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850 155817470
44
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453
45
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
46 Sodium Channel Blockers Phase 2
47 Diuretics, Potassium Sparing Phase 2
48 diuretics Phase 2
49 Trace Elements Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
# 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 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Unknown status NCT04012476 Phase 4 Indocyanine Green
3 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 Unknown status NCT04491357 Phase 4 Calcium Gluconate;Normal saline
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 Study for Effectiveness in Prevention of Postoperative Hypocalcemia of Preoperative Oral Supplementation of Vitamin D (D-mac 30,000 IU) in Patients Undergoing Total Thyroidectomy Recruiting NCT05216419 Phase 4 Cholecalciferol
7 The Impact of Preoperative Oral Dexamethasone Supplementation on the Biochemical Parameters and Results of Surgical Treatment in Patients With Nontoxic Multinodular Goiter Undergoing Total Thyroidectomy. Recruiting NCT04412694 Phase 4 Dexamethasone oral tablet 8mg (Dexamethasone Krka tablets(8mg), Warsaw, Poland).;Placebo oral sweetener (Clio tablets, sweetener with a dispenser, Instantina GES, Vienna, Austria).
8 The Effect of Teriparatide on the Early Postoperative Hypocalcemia After Parathyroidectomy in Dialysis Patients: a Pilot, Randomized Trial Completed NCT04750460 Phase 3 Teriparatide
9 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
10 Study of Total Post-thyroidectomy Hypocalcemia After Preoperative Cholecalciferol Supplementation Recruiting NCT04775381 Phase 3 Vitamin D
11 The Use of Autofluorescence and Indocyanine Green to Avoid Hypocalcemia After Total Thyroidectomy: A Randomized Clinical Trial Recruiting NCT05117853 Phase 3 Autofluorescent detection + Injection of indocyanine green
12 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
13 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Completed NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
14 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 Completed NCT01868750 Phase 2
15 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
16 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)
17 A Phase 2b, Open-label Dose-ranging Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics, and Efficacy of CLTX-305 (Encaleret) in Autosomal Dominant Hypocalcemia (ADH) Type 1 Active, not recruiting NCT04581629 Phase 2 CLTX-305
18 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
19 Studies With 1,25-Dihydroxycholecalciferol Terminated NCT00001151 Phase 2 1,25-Dihydroxycholecalciferol
20 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
21 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Unknown status NCT02551120
22 Role of Pre Operative Vit D Administiration in Decrease Incidence of Post Thyroidectomy Hypocalcemia Unknown status NCT04094493 Early Phase 1 vit D
23 Effect of Treatment of Vitamin D Deficiency During Pregnancy on Hypocalcemia Unknown status NCT02021864 vitamin D3 50,000 unit;prenatal multivitamin
24 Early Prediction of Hypocalcemia After Thyroidectomy Using Postoperative Second Hour Parathormone Unknown status NCT03717116
25 Profile of Hypocalcemia in Infants and Children Admitted to Assiut University Children Hospital Unknown status NCT03685877
26 Is Correcting Total Serum Calcium Levels for Serum Albumin Necessary in Assessing Symptomatic Hypocalcemia After Total Thyroidectomy: a Prospective Cohort Study Unknown status NCT04304573
27 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
28 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
29 Post-thyroidectomy Vocal Cord Paralysis Along With Hypocalcemia: Prospective, Matched-randomized Observational Cohort Compatible With STROBE Guidelines Unknown status NCT04396912
30 Prognosis Association of Hypocalcemia on Moderate-severe TBI, COHORTE STUDY Unknown status NCT01236911
31 The Impact of Vitamin D Deficiency on Hypocalcaemia Following Total Thyroidectomy Unknown status NCT03063060
32 Early Postoperative Serum Parathyroid Hormone Levels as a Predictor of Hypocalcaemia After Total Thyroidectomy: A Prospective Non-Randomized Study Unknown status NCT04160637
33 Intra-operative Rapid Identification of Lymph Node and Parathyroid by Fine Needle Puncture for Thyroid Carcinoma Unknown status NCT03268785
34 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
35 Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
36 Hypomagnesemia and Hypocalcemia Association Following Thyroidectomy Completed NCT04351451
37 Predicting Risk Factors of Postoperative Hypocalcemia After Total Thyroidectomy: is Safe Discharge Without Supplementation Possible? Completed NCT04372225
38 Does Preoperative Calcium and Calcitriol Decrease Rates of Post Thyroidectomy Hypocalcemia? Completed NCT03869398
39 Routine Low-dose Calcium and Vitamin D Supplementation for Preventing Symptomatic Postthyroidectomy Hypocalcemia Completed NCT03484416 Calcium Carbonate 1500 Mg with Vitamin D
40 Parathyroid Autofluorescence Visualization in Thyroid Surgery: Impact on Postoperative Hypocalcemia. A Randomized Controlled Trial Completed NCT02892253
41 Parathyroid Autofluorescence Visualization During Thyroid Surgery: Impact on Postoperative Hypocalcemia Completed NCT02889952
42 Effects of Cord Blood 25-hydroxy-vitamin D Level on Early Neonatal Morbidities Completed NCT02147327
43 Randomised Control Trial on the Use of Prophylactic Steroids in the Prevention of Post-thyroidectomy Hypocalcaemia and Voice Dysfunction Completed NCT04752852 Dexamethasone;Placebo
44 Comparing Pump vs. Subcutaneous Injection Delivery of PTH 1-34 in the Management of Chronic Hypoparathyroidism Completed NCT00743782 Early Phase 1 Synthetic Human Parathyroid Hormone 1-34
45 The No-Tie Technique Using the Harmonic Scalpel in Total Thyroidectomy With Central Neck Dissection: A Prospective Randomized Study Completed NCT00506103
46 Calcium and Vitamin D Intakes in Children Completed NCT01638494
47 Inulin- a Potential Preventive Dietary Supplement Against PPI Induced Hypomagnesemia Completed NCT02518659
48 Hypomagnesemia Associated With Proton-Pump Inhibitor Use Completed NCT04426994 proton pump inhibitor use
49 A Single Dose, Two-Period, Two-Treatment, Two-Way Crossover Bioequivalency Study of Calcitriol Tablets, 0.25 mg, Under Fasting Conditions Completed NCT00601328 Calcitriol
50 Early Prediction of Hypocalcaemia Following Thyroid Surgery: A Prospective Randomized Clinical Trial Completed NCT02853721

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

Genetic Tests for Hypocalcemia, Autosomal Dominant 1

Genetic tests related to Hypocalcemia, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Autosomal Dominant Hypocalcemia 1 28 CASR
2 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 28
3 Autosomal Dominant Hypocalcemia 28

Anatomical Context for Hypocalcemia, Autosomal Dominant 1

Organs/tissues related to Hypocalcemia, Autosomal Dominant 1:

MalaCards : Kidney, Eye, Brain, Thyroid, Bone, Lymph Node, Liver
ODiseA: Kidney

Publications for Hypocalcemia, Autosomal Dominant 1

Articles related to Hypocalcemia, Autosomal Dominant 1:

(show top 50) (show all 350)
# Title Authors PMID Year
1
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 53 62 57 5
12574188 2003
2
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. 53 62 57 5
12191970 2002
3
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. 53 62 57 5
10770217 2000
4
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 53 62 57 5
9920108 1999
5
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. 53 62 57 5
8813042 1996
6
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. 62 57 5
32386559 2020
7
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 62 57 5
16608894 2006
8
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 62 57 5
12915654 2003
9
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. 62 57 5
12107202 2002
10
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. 62 57 5
12050233 2002
11
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? 53 57 5
11134112 2000
12
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. 62 57 5
10487661 1999
13
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. 62 57 5
9253358 1997
14
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. 62 57 5
8698326 1996
15
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. 62 57 5
8733126 1996
16
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 57 5
12241879 2002
17
Extracellular calcium sensing and extracellular calcium signaling. 57 5
11152759 2001
18
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. 57 5
9661634 1998
19
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 57 5
7874174 1994
20
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 53 62 5
19179454 2009
21
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 53 62 57
17048213 2006
22
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. 53 62 57
15347804 2004
23
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. 53 62 57
15005845 2004
24
A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. 53 62 5
14519094 2003
25
A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. 53 62 5
12733714 2003
26
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. 53 62 5
11889203 2002
27
Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. 53 62 5
11136551 2000
28
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. 53 62 5
11013439 2000
29
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1. 62 57
34233101 2021
30
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. 62 5
26646938 2016
31
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1. 62 5
26323216 2016
32
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. 62 5
25091521 2015
33
Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. 62 5
24297799 2014
34
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. 62 5
23966241 2013
35
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 62 57
23802516 2013
36
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity. 62 5
23169696 2013
37
Calcium-sensing receptor and associated diseases. 62 5
20374733 2009
38
Activating mutations of the calcium-sensing receptor: management of hypocalcemia. 53 5
11701698 2001
39
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 62 5
8702647 1996
40
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. 62 57
7808841 1994
41
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
42
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients. 5
32347971 2020
43
Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia. 5
32638038 2020
44
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. 5
31672324 2019
45
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. 5
27666534 2016
46
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases. 5
27390877 2016
47
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. 5
26963950 2016
48
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 5
26161261 2015
49
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. 5
25104082 2014
50
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 5
24203066 2014

Variations for Hypocalcemia, Autosomal Dominant 1

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant 1:

5 (show top 50) (show all 1532)
# 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.2417T>C (p.Phe806Ser) SNV Pathogenic
8322 rs104893693 GRCh37: 3:122003218-122003218
GRCh38: 3:122284371-122284371
3 CASR NM_000388.4(CASR):c.354C>A (p.Asn118Lys) SNV Pathogenic
8324 rs104893695 GRCh37: 3:121976096-121976096
GRCh38: 3:122257249-122257249
4 CASR NM_000388.4(CASR):c.382T>C (p.Phe128Leu) SNV Pathogenic
8325 rs104893696 GRCh37: 3:121976124-121976124
GRCh38: 3:122257277-122257277
5 CASR NM_000388.4(CASR):c.571G>A (p.Glu191Lys) SNV Pathogenic
8326 rs104893697 GRCh37: 3:121980453-121980453
GRCh38: 3:122261606-122261606
6 CASR NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) SNV Pathogenic
8327 rs104893698 GRCh37: 3:122002636-122002636
GRCh38: 3:122283789-122283789
7 CASR NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) SNV Pathogenic
8328 rs104893699 GRCh37: 3:122003119-122003119
GRCh38: 3:122284272-122284272
8 CASR NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) SNV Pathogenic
Pathogenic
8336 rs104893701 GRCh37: 3:122003164-122003164
GRCh38: 3:122284317-122284317
9 CASR NM_000388.4(CASR):c.141A>C (p.Lys47Asn) SNV Pathogenic
8337 rs104893702 GRCh37: 3:121973177-121973177
GRCh38: 3:122254330-122254330
10 CASR NM_000388.4(CASR):c.1846C>G (p.Leu616Val) SNV Pathogenic
8338 rs104893703 GRCh37: 3:122002647-122002647
GRCh38: 3:122283800-122283800
11 CASR NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) DEL Pathogenic
8339 rs1553769169 GRCh37: 3:122003478-122004020
GRCh38: 3:122284636-122285178
12 CASR NM_000388.4(CASR):c.374T>C (p.Leu125Pro) SNV Pathogenic
8346 rs104893708 GRCh37: 3:121976116-121976116
GRCh38: 3:122257269-122257269
13 CASR NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) SNV Pathogenic
8347 rs104893710 GRCh37: 3:122003260-122003260
GRCh38: 3:122284413-122284413
14 CASR NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) SNV Pathogenic
8348 rs104893711 GRCh37: 3:122003163-122003163
GRCh38: 3:122284316-122284316
15 CASR NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) SNV Pathogenic
8354 rs104893718 GRCh37: 3:122002981-122002981
GRCh38: 3:122284134-122284134
16 CASR NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) SNV Pathogenic
8343 rs104893706 GRCh37: 3:122003329-122003329
GRCh38: 3:122284482-122284482
17 CASR NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) INDEL Pathogenic
574086 rs1559956508 GRCh37: 3:121975941-121975941
GRCh38: 3:122257094-122257094
18 CASR INSERT Pathogenic
870267 GRCh37:
GRCh38:
19 CASR NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) SNV Pathogenic
975963 rs2074565392 GRCh37: 3:121976128-121976128
GRCh38: 3:122257281-122257281
20 CASR NM_000388.4(CASR):c.379G>A (p.Glu127Lys) SNV Pathogenic
977805 rs2074565202 GRCh37: 3:121976121-121976121
GRCh38: 3:122257274-122257274
21 CASR NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) SNV Pathogenic
451182 rs1553769120 GRCh37: 3:122003266-122003266
GRCh38: 3:122284419-122284419
22 CASR NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) SNV Pathogenic
978027 rs2074938472 GRCh37: 3:122003230-122003230
GRCh38: 3:122284383-122284383
23 CASR NM_000388.4(CASR):c.166del (p.Glu56fs) DEL Pathogenic
35779 rs193922424 GRCh37: 3:121973201-121973201
GRCh38: 3:122254354-122254354
24 CASR NM_000388.4(CASR):c.209G>A (p.Trp70Ter) SNV Pathogenic
Not Provided
1177515 GRCh37: 3:121975951-121975951
GRCh38: 3:122257104-122257104
25 CASR NM_000388.4(CASR):c.528del (p.Asn176fs) DEL Pathogenic
1378885 GRCh37: 3:121980410-121980410
GRCh38: 3:122261563-122261563
26 CASR NM_000388.4(CASR):c.1759dup (p.Asp587fs) DUP Pathogenic
1373420 GRCh37: 3:122002559-122002560
GRCh38: 3:122283712-122283713
27 CASR NM_000388.4(CASR):c.2008G>C (p.Gly670Arg) SNV Pathogenic
1397805 GRCh37: 3:122002809-122002809
GRCh38: 3:122283962-122283962
28 CASR NM_000388.4(CASR):c.2533_2545del (p.Ser845fs) DEL Pathogenic
1408979 GRCh37: 3:122003333-122003345
GRCh38: 3:122284486-122284498
29 CASR NM_000388.4(CASR):c.961_962del (p.Ala321fs) DEL Pathogenic
1432045 GRCh37: 3:121980842-121980843
GRCh38: 3:122261995-122261996
30 CASR NM_000388.4(CASR):c.357_358del (p.Lys119fs) DEL Pathogenic
1453750 GRCh37: 3:121976097-121976098
GRCh38: 3:122257250-122257251
31 CASR NM_000388.4(CASR):c.1802del (p.Lys601fs) DEL Pathogenic
1425273 GRCh37: 3:122002602-122002602
GRCh38: 3:122283755-122283755
32 CASR NM_000388.4(CASR):c.186-2A>G SNV Pathogenic
1361655 GRCh37: 3:121975926-121975926
GRCh38: 3:122257079-122257079
33 CASR NM_000388.4(CASR):c.2148dup (p.Lys717fs) DUP Pathogenic
1442327 GRCh37: 3:122002948-122002949
GRCh38: 3:122284101-122284102
34 CASR NM_000388.4(CASR):c.112_113insC (p.Phe38fs) INSERT Pathogenic
1460173 GRCh37: 3:121973148-121973149
GRCh38: 3:122254301-122254302
35 CASR NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter) SNV Pathogenic
1453597 GRCh37: 3:121994823-121994823
GRCh38: 3:122275976-122275976
36 CASR NM_000388.4(CASR):c.349C>T (p.Gln117Ter) SNV Pathogenic
1451604 GRCh37: 3:121976091-121976091
GRCh38: 3:122257244-122257244
37 CASR NM_000388.4(CASR):c.1081C>T (p.Gln361Ter) SNV Pathogenic
1070118 GRCh37: 3:121980963-121980963
GRCh38: 3:122262116-122262116
38 CASR NC_000003.11:g.(?_121973037)_(122004038_?)del DEL Pathogenic
1071373 GRCh37: 3:121973037-122004038
GRCh38:
39 CASR NM_000388.4(CASR):c.924_925dup (p.Gln309fs) DUP Pathogenic
1074500 GRCh37: 3:121980804-121980805
GRCh38: 3:122261957-122261958
40 CASR NM_000388.4(CASR):c.1054del (p.Trp352fs) DEL Pathogenic
1074918 GRCh37: 3:121980933-121980933
GRCh38: 3:122262086-122262086
41 CASR NM_000388.4(CASR):c.547_548del (p.Phe183fs) DEL Pathogenic
1075778 GRCh37: 3:121980428-121980429
GRCh38: 3:122261581-122261582
42 CASR NM_000388.4(CASR):c.666del (p.Ile223fs) DEL Pathogenic
1321376 GRCh37: 3:121980545-121980545
GRCh38: 3:122261698-122261698
43 CASR NM_000388.4(CASR):c.679C>T (p.Arg227Ter) SNV Pathogenic
532618 rs1085307984 GRCh37: 3:121980561-121980561
GRCh38: 3:122261714-122261714
44 CASR NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) SNV Pathogenic
379932 rs1057520791 GRCh37: 3:122003458-122003458
GRCh38: 3:122284611-122284611
45 CASR NM_000388.4(CASR):c.166G>T (p.Glu56Ter) SNV Pathogenic
Pathogenic
838073 rs1358793834 GRCh37: 3:121973202-121973202
GRCh38: 3:122254355-122254355
46 CASR NM_000388.4(CASR):c.448_449dup (p.Thr151fs) MICROSAT Pathogenic
664654 rs1576854561 GRCh37: 3:121976187-121976188
GRCh38: 3:122257340-122257341
47 CASR NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) SNV Pathogenic
35778 rs193922423 GRCh37: 3:121994806-121994806
GRCh38: 3:122275959-122275959
48 CASR NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) SNV Pathogenic
941127 rs2074926931 GRCh37: 3:122002784-122002784
GRCh38: 3:122283937-122283937
49 CASR NM_000388.4(CASR):c.108dup (p.Leu37fs) DUP Pathogenic
280657 rs886041823 GRCh37: 3:121973138-121973139
GRCh38: 3:122254291-122254292
50 CASR NM_000388.4(CASR):c.346G>A (p.Ala116Thr) SNV Pathogenic
8321 rs104893691 GRCh37: 3:121976088-121976088
GRCh38: 3:122257241-122257241

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 15)
# Super pathways Score Top Affiliating Genes
1 13.55 ADH1A CALCA CASR FGF23 GNA11 GNAS
2
Show member pathways
13.33 PTHLH PTH PRKAR1A GRM1 GNAS GNA11
3 12.37 PRKAR1A GRM1 GNA11 CALCA
4
Show member pathways
12.3 PRKAR1A GNAS GNA11 CALCA
5
Show member pathways
12.19 PTHLH PTH GNAS CALCA
6
Show member pathways
11.97 PTHLH PTH PRKAR1A GNAS CALCA
7 11.9 VDR PTHLH PTH FGF23 CYP27B1 BGLAP
8
Show member pathways
11.82 PRKAR1A GNAS GNA11
9 11.76 VDR PRKAR1A GNA11 CASR ALB
10
Show member pathways
11.63 PRKAR1A GRM1 GNAS
11 11.52 PRKAR1A GNAS GNA11 FGF23
12 11.01 VDR PTH CYP27B1 CALCA BGLAP
14 10.76 VDR PTHLH PTH PRKAR1A GNAS GNA11
15 10.5 VDR PTH CYP27B1

GO Terms for Hypocalcemia, Autosomal Dominant 1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 10.11 PTHLH PTH GNAS CALCA
2 skeletal system development GO:0001501 10.02 VDR PTHLH PTH GNA11 BGLAP
3 calcium ion homeostasis GO:0055074 9.89 PTH FGF23 CYP27B1
4 bone mineralization GO:0030282 9.86 PTHLH PTH CYP27B1 BGLAP
5 response to vitamin D GO:0033280 9.85 BGLAP CYP27B1 PTH
6 response to fibroblast growth factor GO:0071774 9.84 PTH CASR
7 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.83 VDR CYP27B1
8 regulation of bone mineralization GO:0030500 9.8 FGF23 CYP27B1 BGLAP
9 cAMP metabolic process GO:0046058 9.76 PTHLH PTH
10 vitamin D catabolic process GO:0042369 9.73 FGF23 CYP27B1
11 response to parathyroid hormone GO:0071107 9.65 PTH GNAS
12 cellular response to vitamin D GO:0071305 9.63 BGLAP CASR FGF23
13 cellular calcium ion homeostasis GO:0006874 9.61 VDR PTH GCM2 CASR CALCA
14 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.1 VDR FGF23 CYP27B1

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
2 guanyl nucleotide binding GO:0019001 8.62 GNAS GNA11

Sources for Hypocalcemia, Autosomal Dominant 1

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