HYPOC1
MCID: HYP192
MIFTS: 56

Hypocalcemia, Autosomal Dominant (HYPOC1) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

Aliases & Descriptions for Hypocalcemia, Autosomal Dominant:

Name: Hypocalcemia, Autosomal Dominant 54 50 13 52
Autosomal Dominant Hypocalcemia 24 25 56 29 69
Hypocalcemia, Autosomal Dominant 1 54 66 29 69
Autosomal Dominant Hypocalcemia with Bartter Syndrome 66 29
Familial Hypocalcemia 25 66
Hypocalcemia 42 69
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 54
Hypoparathyroidism - Autosomal Dominant 69
Autosomal Dominant Hypoparathyroidism 25
Familial Hypercalciuric Hypocalcemia 25
Bartter Syndrome with Hypocalcemia 56
Hypercalciuric Hypocalcemia 66
Bartter Syndrome Type 5 56
Bartter Syndrome Type V 56
Ad Hypocalcemia 56
Hypoc1 66
Adh 25

Characteristics:

Orphanet epidemiological data:

56
bartter syndrome with hypocalcemia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;
autosomal dominant hypocalcemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
hypocalcemia, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601198
ICD10 via Orphanet 34 E26.8 E20.8
MeSH 42 D006996

Summaries for Hypocalcemia, Autosomal Dominant

OMIM : 54 Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH).... (601198) more...

MalaCards based summary : Hypocalcemia, Autosomal Dominant, also known as autosomal dominant hypocalcemia, is related to aneurysm and hypocalcemia, autosomal dominant 2, and has symptoms including reduced consciousness/confusion, abdominal pain and dry skin. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Neuroscience. The drugs Heparin and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are homeostasis/metabolism and mortality/aging

Genetics Home Reference : 25 Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.

UniProtKB/Swiss-Prot : 66 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

Diseases in the Hypocalcemia, Autosomal Dominant family:

Hypocalcemia, Autosomal Dominant 2

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

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 aneurysm 29.2 CALCA PRKAR1A
2 hypocalcemia, autosomal dominant 2 12.3
3 inappropriate adh syndrome 12.1
4 diabetes insipidus, nephrogenic 11.7
5 syndrome of inappropriate antidiuretic hormone 11.2
6 bartter disease type 5 11.2
7 hypoparathyroidism, familial isolated 11.1
8 diabetes insipidus, neurohypophyseal 11.0
9 hypothalamic disease 10.8
10 hypohidrotic ectodermal dysplasia, autosomal 10.8
11 hypoparathyroidism 10.2
12 cerebrooculofacioskeletal syndrome 4 10.2 CASR GNA11
13 inflammatory bowel disease 6 10.2 CASR GNA11
14 jessner's lymphocytic infiltration of the skin 10.2 CASR PRKAR1A
15 epilepsy idiopathic generalized 8 10.2 CASR PRKAR1A
16 familial chronic myelocytic leukemia-like syndrome 10.2 CASR GNA11
17 pseudohypoparathyroidism, type ib 10.2 GNA11 PRKAR1A
18 osseous heteroplasia, progressive 10.2 GNA11 PRKAR1A
19 listeria meningitis 10.2 CASR GNA11
20 deafness, nonsyndromic, modifier 1 10.1 CASR VDR
21 gastric antral vascular ectasia 10.1 CASR VDR
22 mitochondrial dna depletion syndrome 6 10.1 CASR VDR
23 cowper gland carcinoma 10.1 CASR GCM2
24 parathyroid gland disease 10.0 CASR GCM2 PRKAR1A
25 mesenchymal cell neoplasm 10.0 CALCA CASR
26 high-grade dysplasia in patients with barrett esophagus 10.0 CASR PRKAR1A VDR
27 alcohol dependence 10.0
28 weill-marchesani syndrome 10.0 CASR GCM2 VDR
29 epidermolysis bullosa, junctional, herlitz type 10.0 CALCA CASR
30 acrorenal syndrome 9.9 CALCA VDR
31 diabetes insipidus 9.9
32 dentin dysplasia 9.9 CALCA VDR
33 waardenburg syndrome, type 4b 9.9 CALCA CASR VDR
34 pes anserinus tendinitis or bursitis 9.8 CALCA CASR VDR
35 tinea unguium 9.8 CALCA CASR VDR
36 pre-eclampsia 9.8 CALCA CASR VDR
37 indian tick typhus 9.8 CALCA CASR VDR
38 lung cancer 9.8
39 dysbaric osteonecrosis 9.8 CALCA VDR
40 osteoarthritis 9.8
41 ischemic bone disease 9.7 CALCA VDR
42 pneumonia 9.7
43 brain cancer 9.7
44 pancreatic cancer 9.7
45 pancreatitis 9.7
46 subserous uterine fibroid 9.7 CALCA CASR PRKAR1A VDR
47 opioid abuse 9.7 CALCA CASR GCM2 VDR
48 coronary artery disease 9.6
49 pituitary apoplexy 9.6
50 esophageal cancer 9.6

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



Diseases related to Hypocalcemia, Autosomal Dominant

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

601198

Clinical features from OMIM:

601198

Human phenotypes related to Hypocalcemia, Autosomal Dominant:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced consciousness/confusion 56 32 Occasional (29-5%) HP:0004372
2 abdominal pain 56 32 Frequent (79-30%) HP:0002027
3 dry skin 56 32 Frequent (79-30%) HP:0000958
4 emotional lability 56 32 Very frequent (99-80%) HP:0000712
5 depression 56 32 Very frequent (99-80%) HP:0000716
6 hypotension 56 32 Frequent (79-30%) HP:0002615
7 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
8 optic atrophy 56 32 Occasional (29-5%) HP:0000648
9 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
10 arrhythmia 56 32 Frequent (79-30%) HP:0011675
11 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
12 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
13 anxiety 56 32 Very frequent (99-80%) HP:0000739
14 abnormality of the fingernails 56 32 Frequent (79-30%) HP:0001231
15 hypercalciuria 56 32 Very frequent (99-80%) HP:0002150
16 paresthesia 56 32 Very frequent (99-80%) HP:0003401
17 irregular hyperpigmentation 56 32 Occasional (29-5%) HP:0007400
18 hypocalcemia 56 32 Very frequent (99-80%) HP:0002901
19 nephrocalcinosis 56 32 Frequent (79-30%) HP:0000121
20 alopecia 56 32 Frequent (79-30%) HP:0001596
21 eczema 56 32 Occasional (29-5%) HP:0000964
22 fatigable weakness 56 32 Very frequent (99-80%) HP:0003473
23 abnormal pattern of respiration 56 32 Frequent (79-30%) HP:0002793
24 hyperphosphatemia 56 32 Frequent (79-30%) HP:0002905
25 hypomagnesemia 56 32 Frequent (79-30%) HP:0002917
26 writer's cramp 56 32 Very frequent (99-80%) HP:0002356
27 hypermagnesiuria 56 32 Frequent (79-30%) HP:0012608
28 cortical myoclonus 56 32 Very frequent (99-80%) HP:0040148
29 seizures 32 HP:0001250
30 behavioral abnormality 56 Very frequent (99-80%)
31 short stature 32 HP:0004322
32 hypokalemia 32 HP:0002900
33 abnormality of the nail 56 Frequent (79-30%)
34 abnormal renal physiology 32 HP:0012211
35 muscle cramps 32 HP:0003394
36 tetany 32 HP:0001281
37 nephrolithiasis 32 HP:0000787
38 increased circulating renin level 32 HP:0000848
39 basal ganglia calcification 32 HP:0002135

UMLS symptoms related to Hypocalcemia, Autosomal Dominant:


muscle cramp, seizures, carpopedal spasm

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 CASR GCM2 GNA11 GRM1 PRKAR1A TRPM6
2 mortality/aging MP:0010768 9.87 GNA11 GRM1 PRKAR1A TRPM6 VDR CASR
3 craniofacial MP:0005382 9.83 GCM2 GNA11 PRKAR1A TRPM6 VDR
4 endocrine/exocrine gland MP:0005379 9.8 CASR GCM2 GNA11 PRKAR1A VDR
5 muscle MP:0005369 9.65 CASR GNA11 GRM1 PRKAR1A VDR
6 pigmentation MP:0001186 9.46 CASR GNA11 GRM1 PRKAR1A
7 renal/urinary system MP:0005367 9.35 CASR GCM2 GNA11 GRM1 VDR
8 skeleton MP:0005390 9.17 VDR CASR GCM2 GNA11 GRM1 PRKAR1A

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

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

(show top 50) (show all 173)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
2
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Zoledronic acid Approved Phase 4,Phase 1 118072-93-8 68740
4
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
5
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
6
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
7
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3 67-97-0 6221 10883523 5280795
8
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3 50-14-6 5280793
9
Alfacalcidol Approved, Nutraceutical Phase 4,Phase 2 41294-56-8 5282181
10
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
11 vitamin d Phase 4,Phase 2,Phase 3,Phase 1
12 Cinacalcet Hydrochloride Phase 4,Phase 2,Phase 3
13 Trace Elements Phase 4,Phase 2,Phase 3
14 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
15 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
16 Vaccines Phase 4,Phase 3,Phase 2,Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
18 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
19 Ergocalciferols Phase 4,Phase 2,Phase 3
20 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
21 Micronutrients Phase 4,Phase 2,Phase 3
22 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Calcimimetic Agents Phase 4,Phase 2,Phase 3
24 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
25 calcium heparin Phase 4
26 Analgesics Phase 4,Phase 1,Phase 2
27 calcium channel blockers Phase 4
28 Chelating Agents Phase 4,Phase 3
29 Tocolytic Agents Phase 4
30 Nucleic Acid Synthesis Inhibitors Phase 4
31 Anesthetics Phase 4,Phase 2,Phase 1
32 Dialysis Solutions Phase 4
33 Diphosphonates Phase 4
34 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
35 Hydroxycholecalciferols Phase 4,Phase 2
36 Anti-Arrhythmia Agents Phase 4
37 Hypoglycemic Agents Phase 4
38 Immunoglobulins Phase 4,Phase 1,Phase 2
39 1 alpha-hydroxyergocalciferol Phase 4
40 Anti-Infective Agents Phase 4,Phase 2,Phase 1
41 Fibrinolytic Agents Phase 4
42 Anticoagulants Phase 4
43 Anticonvulsants Phase 4
44 Anti-Retroviral Agents Phase 4
45 Reverse Transcriptase Inhibitors Phase 4
46 Antibodies Phase 4,Phase 1,Phase 2
47 Antiviral Agents Phase 4
48 Central Nervous System Depressants Phase 4
49 Betamethasone Valerate Phase 4 2152-44-5
50 glucocorticoids Phase 4,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 127)
id Name Status NCT ID Phase
1 An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine Booster Unknown status NCT00870350 Phase 4
2 Impact on Reducing the Incidence of Low Serum Calcium by Providing Educational Materials on the Need to Take Daily Supplemental Calcium and Vitamin D to Patients With Paget's Disease Treated With Reclast® Completed NCT00668200 Phase 4
3 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
4 Citrate-based Regional Anticoagulation Versus Heparin for Continuous Renal Replacement Therapy Completed NCT01269112 Phase 4
5 Evaluation of the Effectiveness of Paricalcitol Versus Cinacalcet With Low-Dose Vitamin D Completed NCT00977080 Phase 4
6 Study of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease Completed NCT00395382 Phase 4
7 Regulatory Post-Marketing Surveillance Study for TETRAXIM™ Completed NCT01437423 Phase 4
8 Post Marketing Surveillance for ADACEL™ in South Korea Completed NCT01137435 Phase 4
9 Study of DAPTACEL® Administered as a 5th Dose in 4 to 6-Year-Old Children Previously Immunized With PENTACEL™ Completed NCT00802867 Phase 4
10 Study of Menactra® in US Adolescents When Administered Concomitantly With Tdap Vaccine Completed NCT00777257 Phase 4
11 Immune Responses in Adults to Revaccination With ADACEL® 10 Years After a Previous Dose Completed NCT00712959 Phase 4
12 Phase IV Interchangeability Study of a Liquid Pentavalent Combination Vaccine Completed NCT00674908 Phase 4
13 Canadian Manufactured Tetanus and Diphtheria Toxoids Adsorbed (Td) Vaccine Compared With U.S. Manufactured Td Completed NCT00601835 Phase 4
14 Immunogenicity and Safety Study of a Booster Dose (5th) of Diphteria-Tetanus-Pertussis-Polio Vaccine Completed NCT00514059 Phase 4
15 A Trial to Evaluate the Safety and Immunogenicity of ADACEL® Vaccine in Persons 65 Years of Age and Older Completed NCT00457249 Phase 4
16 Descriptive, Open-label, Multicenter Study of the Safety of Redosing With ADACEL® Vaccine Completed NCT00347958 Phase 4
17 Post-licensure, Modified Double-blind, Multi-center Study Evaluating Safety and Immunogenicity of ADACEL® and BOOSTRIX® Completed NCT00319553 Phase 4
18 Post-marketing Evaluation of Reactions Following Receipt of Recommended Adolescent Pertussis Vaccine Completed NCT00304265 Phase 4
19 US-licensed Combined Vaccine Against Tetanus & Diphtheria, Given With US-licensed Vaccine Against Meningococcal Disease Completed NCT00282295 Phase 4
20 Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Recruiting NCT02652884 Phase 4
21 Vitamin D Deficiency and Postoperative Hypocalcemia Active, not recruiting NCT01632514 Phase 4
22 Tetanus Immunization in Subjects With No Immunization History or With Tetanus Antibody Levels Below Protective Levels Terminated NCT00437671 Phase 4
23 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4
24 Cinacalcet in Paediatric Secondary Hyperparathyroidism (SHPT) Due to Chronic Kidney Disease (CKD) Unknown status NCT01479088 Phase 2, Phase 3
25 Study to Assess the Impact on Calcium Levels When Hemodialysis Patients With Secondary Hyperparathyroidism (SHPT) Switch From Cinacalcet to Etelcalcetide Completed NCT01932970 Phase 3
26 Efficacy and Safety of Etelcalcetide (AMG 416) in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease (CKD) on Hemodialysis Completed NCT01788046 Phase 3
27 Extension Study of Etelcalcetide in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease (CKD) on Hemodialysis Completed NCT01785875 Phase 3
28 Efficacy and Safety of Etelcalcetide (AMG 416) in the Treatment of Secondary Hyperparathyroidism (SHPT) in Patients With Chronic Kidney Disease on Hemodialysis Completed NCT01785849 Phase 3
29 Prophylactic Central Lymph Node Dissection in Papillary Thyroid Microcarcinoma Completed NCT00795782 Phase 3
30 Use of NPSP558 in the Treatment of Hypoparathyroidism Completed NCT00732615 Phase 3
31 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3
32 Magnesium Effects in Apheresis Completed NCT00040235 Phase 3
33 Study of BK1301 (DTaP Vaccine) as a Booster in Adolescents Completed NCT02118961 Phase 3
34 Study of SP306 Given Intramuscularly Compared to DT Given Subcutaneously in Japanese Adolescents 11 - 12 Years Old Completed NCT02089347 Phase 3
35 Study of Quinvaxem for Vaccination Against Diphtheria, Pertussis, Tetanus, Hepatitis B and Diseases Caused by Haemophilus Influenzae Type B Completed NCT01362517 Phase 3
36 Study of DTap-IPV Compared to DAPTACEL® and IPOL® as the 5th Dose in Children 4 to 6 Years of Age Completed NCT01346293 Phase 3
37 Safety and Immunogenicity Study of a Diphtheria, Tetanus, Acellular Pertussis and Poliomyelitis Vaccine (REPEVAX) Followed by 2 Doses of a Diphtheria, Tetanus and Poliomyelitis Vaccine (REVAXIS) in Subjects of 40 Years of Age or Older Completed NCT01287949 Phase 3
38 Safety and Immunogenicity Study of Concomitant Versus Non Concomitant Administration of a Diphtheria, Tetanus, Pertussis and Poliomyelitis Vaccine (REPEVAX) and Influenza Vaccine (VAXIGRIP) in Subjects Aged From 60 Years Old Completed NCT01249183 Phase 3
39 Study of the Safety, Immunogenicity and Lot Comparability of DAPTACEL When Administered With Other Recommended Vaccine Completed NCT00662870 Phase 3
40 REVAXIS® Versus DT Polio® as a Second Booster in 6 Year-Old Children Completed NCT00447525 Phase 3
41 Study to Compare Pediacel® to Infanrix®-IPV+Hib When Both Are Co-Administered With Prevenar® in Infants and Toddlers Completed NCT00343421 Phase 3
42 Comparison of Safety and Immunogenicity of Pediacel™ and Infanrix™ IPV+Hib (Penta) Given in a 3 Dose Schedule in Infants Completed NCT00287092 Phase 3
43 Prevention of Symptomatic Skeletal Events With Denosumab Administered Every 4 Weeks Versus Every 12 Weeks Recruiting NCT02051218 Phase 3
44 Vaccine -diphthEria -tetaNus -Acellular pertUssis-inactivated polioviruS Recruiting NCT02458183 Phase 3
45 HEXT (Hypo EXTended): Effect of PTH on Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3
46 Comparison of Total Parathyroidectomy With and Without Autotransplantation Not yet recruiting NCT02536287 Phase 3
47 RETIC Trial: Reversal of Trauma Induced Coagulopathy Using Coagulation Factor Concentrates or Fresh Frozen Plasma Terminated NCT01545635 Phase 3
48 Interest of Using Balanced Fluid for Infusion at the Early Phase of an Acute Cranial Trauma for Limiting Hyperchloremic Acidosis Terminated NCT00847977 Phase 3
49 Safety and Tolerability Study of MCI-196 Terminated NCT01818687 Phase 3
50 Nicotinamide Versus Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypocalcemia

Genetic Tests for Hypocalcemia, Autosomal Dominant

Genetic tests related to Hypocalcemia, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Hypocalcemia, Autosomal Dominant 1 29
2 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 29
3 Autosomal Dominant Hypocalcemia 29 24 CASR

Anatomical Context for Hypocalcemia, Autosomal Dominant

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

39
Kidney, Heart, Bone, Skin, Liver

Publications for Hypocalcemia, Autosomal Dominant

Variations for Hypocalcemia, Autosomal Dominant

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

66 (show all 34)
id Symbol AA change Variation ID SNP ID
1 CASR p.Ala116Thr VAR_003588
2 CASR p.Glu127Ala VAR_003589
3 CASR p.Gln681His VAR_003598
4 CASR p.Phe806Ser VAR_003600
5 CASR p.Leu616Val VAR_015414
6 CASR p.Glu767Lys VAR_021019
7 CASR p.Lys47Asn VAR_058050
8 CASR p.Asn118Lys VAR_058051
9 CASR p.Leu125Pro VAR_058052
10 CASR p.Phe128Leu VAR_058053
11 CASR p.Cys131Trp VAR_058054
12 CASR p.Thr151Met VAR_058055
13 CASR p.Glu191Lys VAR_058058
14 CASR p.Glu604Lys VAR_058070
15 CASR p.Phe612Ser VAR_058071
16 CASR p.Leu727Gln VAR_058075
17 CASR p.Leu773Arg VAR_058078
18 CASR p.Phe788Cys VAR_058079
19 CASR p.Phe788Leu VAR_058080
20 CASR p.Ser820Phe VAR_058081
21 CASR p.Ala843Glu VAR_058082
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
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

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.1846C> G (p.Leu616Val) single nucleotide variant Pathogenic rs104893703 GRCh37 Chromosome 3, 122002647: 122002647
2 CASR NM_000388.3(CASR): c.2682_3224del543 (p.Ser895_Val1075del) deletion Pathogenic GRCh38 Chromosome 3, 122284636: 122285178
3 CASR NM_000388.3(CASR): c.380A> C (p.Glu127Ala) single nucleotide variant Pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
4 CASR NM_000388.3(CASR): c.2043G> T (p.Gln681His) single nucleotide variant Pathogenic rs121909261 GRCh37 Chromosome 3, 122002844: 122002844
5 CASR NM_000388.3(CASR): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic rs104893691 GRCh37 Chromosome 3, 121976088: 121976088
6 CASR NM_000388.3(CASR): c.2417T> C (p.Phe806Ser) single nucleotide variant Pathogenic rs104893693 GRCh37 Chromosome 3, 122003218: 122003218
7 CASR NM_000388.3(CASR): c.452C> T (p.Thr151Met) single nucleotide variant Pathogenic rs104893694 GRCh37 Chromosome 3, 121976194: 121976194
8 CASR NM_000388.3(CASR): c.354C> A (p.Asn118Lys) single nucleotide variant Pathogenic rs104893695 GRCh37 Chromosome 3, 121976096: 121976096
9 CASR NM_000388.3(CASR): c.382T> C (p.Phe128Leu) single nucleotide variant Pathogenic rs104893696 GRCh37 Chromosome 3, 121976124: 121976124
10 CASR NM_000388.3(CASR): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs104893697 GRCh37 Chromosome 3, 121980453: 121980453
11 CASR NM_000388.3(CASR): c.1835T> C (p.Phe612Ser) single nucleotide variant Pathogenic rs104893698 GRCh37 Chromosome 3, 122002636: 122002636
12 CASR NM_000388.3(CASR): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs104893699 GRCh37 Chromosome 3, 122003119: 122003119
13 CASR NM_000388.3(CASR): c.2363T> G (p.Phe788Cys) single nucleotide variant Pathogenic rs104893701 GRCh37 Chromosome 3, 122003164: 122003164
14 CASR NM_000388.3(CASR): c.141A> C (p.Lys47Asn) single nucleotide variant Pathogenic rs104893702 GRCh37 Chromosome 3, 121973177: 121973177
15 CASR NM_000388.3(CASR): c.2528C> A (p.Ala843Glu) single nucleotide variant Pathogenic rs104893706 GRCh37 Chromosome 3, 122003329: 122003329
16 CASR NM_000388.3(CASR): c.374T> C (p.Leu125Pro) single nucleotide variant Pathogenic rs104893708 GRCh37 Chromosome 3, 121976116: 121976116
17 CASR NM_000388.3(CASR): c.2459C> T (p.Ser820Phe) single nucleotide variant Pathogenic rs104893710 GRCh37 Chromosome 3, 122003260: 122003260
18 CASR NM_000388.3(CASR): c.2362T> C (p.Phe788Leu) single nucleotide variant Pathogenic rs104893711 GRCh37 Chromosome 3, 122003163: 122003163
19 CASR NM_000388.3(CASR): c.1810G> A (p.Glu604Lys) single nucleotide variant Pathogenic rs104893712 GRCh37 Chromosome 3, 122002611: 122002611
20 CASR NM_000388.3(CASR): c.2180T> A (p.Leu727Gln) single nucleotide variant Pathogenic rs104893718 GRCh37 Chromosome 3, 122002981: 122002981
21 CASR NM_000388.3(CASR): c.662C> T (p.Pro221Leu) single nucleotide variant Pathogenic rs397514728 GRCh37 Chromosome 3, 121980544: 121980544
22 CASR NM_000388.3(CASR): c.2482A> C (p.Thr828Pro) single nucleotide variant Likely pathogenic rs794729230 GRCh38 Chromosome 3, 122284436: 122284436
23 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866

Expression for Hypocalcemia, Autosomal Dominant

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

Pathways for Hypocalcemia, Autosomal Dominant

GO Terms for Hypocalcemia, Autosomal Dominant

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.8 CALCA CASR GRM1

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051482 9.26 CALCA GRM1
2 vasodilation GO:0042311 9.16 CALCA CASR
3 calcium ion transport GO:0006816 9.13 CASR TRPM6 VDR
4 cellular calcium ion homeostasis GO:0006874 8.92 CALCA CASR GCM2 VDR

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 8.8 CASR GNA11 GRM1

Sources for Hypocalcemia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
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68 Tocris
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70 UMLS via Orphanet
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