HCINF1
MCID: HYP726
MIFTS: 58

Hypercalcemia, Infantile, 1 (HCINF1)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hypercalcemia, Infantile, 1

MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Name: Hypercalcemia, Infantile, 1 56 73 29 6
Hypercalcemia Infantile 73 36
Hypercalcemia 43 71
Hcinf1 56 73
Hypercalcemia, Idiopathic, of Infancy 56
Idiopathic Hypercalcemia of Infancy 73
Hypercalcemia, Infantile, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
some patients may not present until adulthood


HPO:

31
hypercalcemia, infantile, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypercalcemia, Infantile, 1

OMIM : 56 Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). (143880)

MalaCards based summary : Hypercalcemia, Infantile, 1, also known as hypercalcemia infantile, is related to hypocalciuric hypercalcemia, familial, type i and hypocalciuric hypercalcemia, familial, type iii. An important gene associated with Hypercalcemia, Infantile, 1 is CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1), and among its related pathways/superpathways are Steroid biosynthesis and Peptide ligand-binding receptors. The drugs Betamethasone and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and kidney, and related phenotypes are nephrolithiasis and intellectual disability

KEGG : 36 Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia.

UniProtKB/Swiss-Prot : 73 Hypercalcemia, infantile, 1: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.

Related Diseases for Hypercalcemia, Infantile, 1

Diseases in the Hypercalcemia, Infantile, 1 family:

Hypercalcemia, Infantile, 2

Diseases related to Hypercalcemia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 953)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 34.5 PTH CASR
2 hypocalciuric hypercalcemia, familial, type iii 34.5 PTH CASR
3 idiopathic infantile hypercalcemia 34.4 PDLIM1 CYP24A1
4 hypocalciuric hypercalcemia, familial, type ii 34.4 PTH CASR
5 familial hypocalciuric hypercalcemia 34.0 PTHLH PTH CASR
6 parathyroid carcinoma 32.3 PTH CASR CALCA
7 metaphyseal chondrodysplasia, jansen type 31.1 PTHLH PTH1R PTH CASR
8 nephrocalcinosis 30.7 PTH CYP24A1 CASR
9 rickets 30.6 VDR PTH CYP24A1 CASR CALCA
10 graves disease 1 30.6 PTH CALCA
11 hypocalcemia, autosomal dominant 1 30.5 VDR PTHLH PTH CASR CALCA
12 primary hyperparathyroidism 30.4 VDR PTHLH PTH1R PTH CASR CALCA
13 mammary paget's disease 30.3 PTH CALCA
14 islet cell tumor 30.2 PTHLH CALCA
15 sclerosing hepatic carcinoma 30.0 PTHLH PTH
16 osteitis fibrosa 29.9 PTH CASR CALCA
17 pediatric ovarian dysgerminoma 29.8 PTHLH PTH
18 nephrolithiasis, calcium oxalate 29.8 VDR CASR
19 fibrous dysplasia 29.8 PTHLH CALCA
20 hypercalciuria, absorptive, 2 29.8 VDR CASR
21 bone giant cell tumor 29.8 PTH CALCA
22 hyperphosphatemia 29.7 VDR PTH CASR
23 multinodular goiter 29.7 PTH CALCA
24 hypophosphatemic rickets, x-linked recessive 29.6 VDR CYP24A1
25 nephrolithiasis 29.5 VDR PTH CYP24A1 CASR
26 urolithiasis 29.5 VDR CASR
27 hypophosphatemia 29.5 VDR PTHLH PTH1R PTH
28 giant cell reparative granuloma 29.4 PTH CALCA
29 uremia 29.4 VDR PTH CASR
30 idiopathic hypercalciuria 29.4 VDR CASR
31 familial isolated hypoparathyroidism 29.3 PTH CASR
32 multiple endocrine neoplasia, type iia 29.3 PTH CALCA
33 hyperprolactinemia 29.3 PTHLH PTH
34 parathyroid adenoma 29.2 VDR PTHLH PTH CASR CALCA
35 chronic kidney disease 29.2 VDR PTH CASR
36 hyperparathyroidism 29.2 VDR PTHLH PTH1R PTH CASR CALCA
37 paget's disease of bone 29.2 PTH CALCA
38 malignant ovarian brenner tumor 29.1 PTHLH PTH CALCA
39 calciphylaxis 29.0 VDR PTH CASR
40 acrodysostosis 28.9 PTHLH PTH1R PTH
41 bone resorption disease 28.9 VDR PTHLH PTH1R PTH CASR CALCA
42 osteogenic sarcoma 28.9 VDR PTHLH PTH1R PTH
43 brittle bone disorder 28.8 PTH1R PTH CALCA
44 glucocorticoid-induced osteoporosis 28.6 VDR PTH CALCA
45 bone cancer 28.5 VDR PTH CALCA
46 pseudohypoparathyroidism 28.4 PTHLH PTH1R PTH CALCA
47 odontochondrodysplasia 28.4 PTHLH PTH1R PTH CALCA
48 bone disease 28.3 VDR PTHLH PTH1R PTH CASR CALCA
49 secondary hyperparathyroidism 28.3 VDR PTH1R PTH CYP24A1 CASR CALCA
50 hypoparathyroidism 28.3 VDR PTHLH PTH1R PTH CASR CALCA

Graphical network of the top 20 diseases related to Hypercalcemia, Infantile, 1:



Diseases related to Hypercalcemia, Infantile, 1

Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

Human phenotypes related to Hypercalcemia, Infantile, 1:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 occasional (7.5%) HP:0000787
2 intellectual disability 31 HP:0001249
3 failure to thrive 31 HP:0001508
4 dehydration 31 HP:0001944
5 vomiting 31 HP:0002013
6 weight loss 31 HP:0001824
7 thick lower lip vermilion 31 HP:0000179
8 abnormality of the eye 31 HP:0000478
9 nephrocalcinosis 31 HP:0000121
10 hypercalciuria 31 HP:0002150
11 pulmonic stenosis 31 HP:0001642
12 elfin facies 31 HP:0004428
13 lethargy 31 HP:0001254
14 aortic valve stenosis 31 HP:0001650
15 generalized hypotonia 31 HP:0001290
16 infantile hypercalcemia 31 HP:0008250
17 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting

Genitourinary Kidneys:
nephrocalcinosis
polyuria
nephrolithiasis (in some patients)

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
dehydration
hypercalciuria
hypercalcemia

Growth Weight:
weight loss

Neurologic Central Nervous System:
lethargy

Metabolic Features:
suppression of intact parathyroid hormone levels

Clinical features from OMIM:

143880

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 CASR PDLIM1 PTH PTH1R PTHLH VDR
2 immune system MP:0005387 9.43 CASR PDLIM1 PTH PTH1R PTHLH VDR
3 skeleton MP:0005390 9.1 CASR CYP24A1 PTH PTH1R PTHLH VDR

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

Drugs for Hypercalcemia, Infantile, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
3
Cinacalcet Approved Phase 4 226256-56-0 156419
4
Zoledronic Acid Approved Phase 4 118072-93-8 68740
5
Mesna Approved, Investigational Phase 4 3375-50-6 598
6
Lenograstim Approved, Investigational Phase 4 135968-09-1
7
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
8
Pamidronate Approved Phase 4 40391-99-9 4674
9
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
10
Cefpirome Approved Phase 4 84957-29-9 5479539
11
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
12
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
15
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
16
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
17
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
18 Molgramostim Investigational Phase 4 99283-10-0
19
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
20 Respiratory System Agents Phase 4
21 Anti-Asthmatic Agents Phase 4
22 Betamethasone acetate Phase 4
23 Fibrinolytic Agents Phase 4
24 Anticoagulants Phase 4
25 Vitamin B Complex Phase 4
26 Vitamin B3 Phase 4
27 Nicotinic Acids Phase 4
28 Folate Phase 4
29 Vitamin B9 Phase 4
30 Hormone Antagonists Phase 4
31 Calcium, Dietary Phase 4
32 Micronutrients Phase 4
33 Vitamins Phase 4
34 Trace Elements Phase 4
35 Nutrients Phase 4
36 Calciferol Phase 4
37 Anti-Infective Agents Phase 4
38 1 alpha-hydroxyergocalciferol Phase 4
39 Antibodies Phase 4
40 Immunoglobulins, Intravenous Phase 4
41 Immunoglobulin A Phase 4
42 Immunoglobulins Phase 4
43 Insulin, Globin Zinc Phase 4
44 insulin Phase 4
45 Adjuvants, Immunologic Phase 4
46 BB 1101 Phase 4
47 Norgestimate, ethinyl estradiol drug combination Phase 4
48 Vasodilator Agents Phase 4
49 Katacalcin Phase 4
50 calcitonin Phase 4

Interventional clinical trials:

(show top 50) (show all 209)
# Name Status NCT ID Phase Drugs
1 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
2 Evaluation of Potential Benefits of Using Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
3 Comparison of Slow Efficiency Daily Dialysis (SLEDD) With Unfractionated Heparin Versus Citrasate in Critically Ill Patients. Unknown status NCT01228292 Phase 4 Unfractionated heparin;Citrasate
4 The Efficacy and Safety of Niacin on Hyperphosphatemia in End Stage Renal Disease Patients Undergoing Haemodialysis Unknown status NCT03163576 Phase 4 Niacin;Phosphate Binder
5 A Prospective, Randomized Trial to Compare Subtotal Parathyroidectomy Versus Cinacalcet in the Treatment of Persistent Secondary Hyperparathyroidism Post Renal Transplantation Completed NCT01178450 Phase 4 Cinacalcet
6 The IMPACT SHPT Study: Study to Evaluate the Improved Management of iPTH With Paricalcitol-centered Therapy vs. Cinacalcet Therapy With Low-dose Vitamin D in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00977080 Phase 4 Paricalcitol;Cinacalcet
7 The Role of Vitamin D in the Pathophysiology of Chronic Failure: Insight in to Mechanisms of Action and Implications for Vitamin D Supplementation Completed NCT01993537 Phase 4 Vitamin D
8 A Phase 4 Randomized Multicenter Open Label Trial of Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3 or 4 Ckd Patients With Secondary Hyperparathyroidism Completed NCT00823303 Phase 4 Paricalcitol;Calcitriol
9 Initial Dosing of Paricalcitol Based on iPTH Parathyroid Hormone Levels in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
10 Effectiveness and Safety of a 6-Month Treatment With IV Zemplar in Patients on Hemodialysis and With Secondary Hyperparathyroidism Using iPTH/100 as Initial Dose Completed NCT00891813 Phase 4 Zemplar (paricalcitol)
11 Short Term Cardiovascular Effects and Oxidative Status of Calcium and Vitamin D Supplementation of Postmenopausal Hypertensive Blacks Women in Sub Saharan Africa Completed NCT04255992 Phase 4
12 A Randomized Clinical Trial of Lenalidomide (CC-5013) and Dexamethasone With and Without Autologous Peripheral Blood Stem Cell Transplant in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01731886 Phase 4 Lenalidomide;Dexamethasone;Melphalan;G-CSF;Cyclophosphamide;Mesna
13 A Randomized, Double-blind, Placebo-controlled, Phase IV Trial Evaluating the Palliative Benefit of Either Continuing Pamidronate or Switching to Second-line Zoledronic Acid in Breast Cancer Patients With High-risk Bone Metastases. Completed NCT01907880 Phase 4 Pamidronate;Zoledronic acid;placebo
14 Randomised Controlled Trial of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease: A Pilot Study Completed NCT00395382 Phase 4 Alendronate;Placebo
15 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
16 Randomized, Multicentric Phase IV Clinical Trial for the Administration of Pamidronate in Breast Cancer Patients With Bone Metastases Completed NCT00128297 Phase 4 Pamidronate
17 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
18 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
19 The Safety and Short-Term Efficacy of Calcitriol in the Treatment of Immunoglobulin A Nephropathy Completed NCT00319761 Phase 4 Calcitriol
20 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
21 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
22 A Double Blind Randomized Control Trial to Study the Effect of Long Term Vitamin D Supplementation on Peripheral Insulin Sensitivity in Apparently Healthy Middle Aged Centrally Obese Adults Completed NCT01052181 Phase 4 Cholecalciferol;placebo
23 Randomized, Double-blind, Placebo-controlled Trial to Measure the Efficacy and Safety of Vitamin D3 in Patients With Fibromyalgia. Completed NCT03369379 Phase 4 D3 Vitamin
24 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
25 The Impact of Serum Vitamin D and Calcium Levels on the Body Composition, Bone Mineral Density, Muscle Strength, Exercise Tolerance, Fatigue and Inflammatory Activity in Patients With Crohn's Disease: a Randomized Controlled Trial Enrolling by invitation NCT02704624 Phase 4
26 A Randomized, Prospective, Cross-Over Study of Calcitriol vs. Paricalcitol in the Treatment of Mineral and Bone Disease in Hemodialysis Patients Terminated NCT01725113 Phase 4 Calcitriol;Paricalcitol
27 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
28 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
29 Zoledronate Versus Ibandronate Comparative Evaluation: A Randomized Phase III, Open-Label, Multicenter, Parallel Group Clinical Trial to Evaluate and Compare the Efficacy, Safety Profile and Tolerability of Oral Ibandronate Versus Intravenous Zoledronate in the Treatment of Breast Cancer Patients With Bone Metastases Unknown status NCT00326820 Phase 3 ibandronate sodium;zoledronic acid;Zolendronic Acid
30 Does Adjuvant Zoledronic Acid Reduce Recurrence in Patients With High Risk Localized Breast Cancer? Unknown status NCT00072020 Phase 3 zoledronic acid
31 Effect of the Treatment of Vitamin D Deficiency in Drug-resistant Epilepsy Unknown status NCT03475225 Phase 3 Cholecalciferol;Placebo Oral
32 DIetary Supplements, Executive funcTions and Vitamin D (DIET-D): a Double-blind Randomized Controlled Trial Unknown status NCT01708005 Phase 2, Phase 3 Lecitone®Se-Vitamin D3;Placebo
33 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3 osteoanabolic therapy
34 Induction Chemotherapy, Fluorouracil, Leucovorin, Oxaliplatin and Irinotecan (FOLFIRINOX) Followed With Concurrent Capecitabine and Radiation Therapy in Treatment of Patients With Inoperable Locally Advanced Cancer Pancreas Unknown status NCT02311439 Phase 2, Phase 3 FOLFIRINOX + CRT
35 An Intra-individual Titration Study of KRN1493 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism Completed NCT01460030 Phase 3 Cinacalcet HCl
36 An Intra-Subject Dose-Adjustment Study of KHK7580 for the Treatment of Hypercalcemia in Patients With Parathyroid Carcinoma or Primary Hyperparathyroidism Who Are Unable to Undergo Parathyroidectomy or Relapse After Parathyroidectomy Completed NCT03280264 Phase 3 KHK7580
37 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
38 A Randomized Double-blind Placebo-controlled Study to Evaluate the Efficacy and Safety of Cinacalcet for the Treatment of Hypercalcemia in Subjects With Primary Hyperparathyroidism Unable to Undergo Parathyroidectomy Completed NCT00975221 Phase 3 Cinacalcet;Placebo
39 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Using Cinacalcet to Correct Hypercalcemia in Renal Transplant Recipients With Autonomous Hyperparathyroidism Completed NCT00975000 Phase 3 Cinacalcet;Placebo
40 Comparison of Efficacy and Safety of Paricalcitol Injection With Maxacalcitol Injection in Adult Japanese Chronic Kidney Disease Subjects Receiving Hemodialysis With Secondary Hyperparathyroidism Completed NCT01341782 Phase 3 paricalcitol;maxacalcitol;paricalcitol placebo;maxacalcitol placebo
41 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Safety and Efficacy of Zoledronate (4 and 8 mg) Administered Intravenously as an Adjuvant to Anticancer Therapy to Patients With Any Cancer With Bone Metastases Other Than Breast Cancer, Multiple Myeloma or Prostate Cancer Completed NCT00003884 Phase 3 zoledronic acid
42 A Phase 3, Open-Label, Multicenter Study to Evaluate the Safety of Paricalcitol Capsules in Pediatric Subjects Ages 10 to 16 With Stage 5 Chronic Kidney Disease Receiving Peritoneal Dialysis or Hemodialysis Completed NCT01382212 Phase 3 paricalcitol
43 A Prospective, Randomized, Double-Blind, Double-Dummy,Placebo-Controlled, Parallel-Group, Pilot Trial Of Paricalcitol and Cholecalciferol(Vitamin D3) in the Treatment Of Secondary Hyperparathyroidism in Patients After ROUX-EN-Y Gastric Bypass Surgery Completed NCT01138475 Phase 3 Paricalcitol;Cholecalciferol;Placebo
44 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
45 Single Dosing of Zoledronic Acid in Cancer Therapy Induced Bone Loss (CTIBL) Completed NCT00712985 Phase 3 Zometa
46 Suppression of Bone Turnover Following Treatment With Zoledronic Acid in Patients With Metastatic Breast Cancer: Duration of Effect Completed NCT01344967 Phase 2, Phase 3 Zoledronic acid
47 A Study to Evaluate the Effects of Calcium Supplementation on the Efficacy and Safety of Recombinant Human Parathyroid Hormone (ALX1-11) in Postmenopausal Women With Osteoporosis (CAP Study) Completed NCT00172172 Phase 3 PTH/Calcium;PTH/placebo;placebo
48 Clinical Value of 18F -Fluorocholine (18F-FCH) PET in Localizing Parathyroid Lesions: Comparison With 99mTc-sestamibi (MIBI) Scan. Completed NCT03555487 Phase 3 18F-choline PET
49 A Clinical Trial Comparing Adjuvant Clodronate Therapy vs Placebo in Early-Stage Breast Cancer Patients Receiving Systemic Chemotherapy and/or Hormonal Therapy or No Therapy Completed NCT00009945 Phase 3 clodronate;placebo
50 Clinical Effects of Parathyroid Hormone as Adjuvant Therapy for Bone Healing After Sternotomy. Completed NCT01466829 Phase 3 Parathyroid hormone;Placebo

Search NIH Clinical Center for Hypercalcemia, Infantile, 1

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


Calcitonin
Edetic Acid
Edetic Acid, Disodium Salt
EDTA TETRASODIUM
Etidronate
Etidronate Disodium
gallium nitrate
pamidronate
Pamidronate Disodium
Prednisone
PREDNISONE PWDR
salmon calcitonin
ZOLEDRONIC
zoledronic acid

Cochrane evidence based reviews: hypercalcemia

Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

# Genetic test Affiliating Genes
1 Hypercalcemia, Infantile, 1 29 CYP24A1

Anatomical Context for Hypercalcemia, Infantile, 1

MalaCards organs/tissues related to Hypercalcemia, Infantile, 1:

40
Bone, Breast, Kidney, Lung, Prostate, T Cells, Endothelial

Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

(show top 50) (show all 481)
# Title Authors PMID Year
1
CYP24A1 mutations in idiopathic infantile hypercalcemia. 56 6
22047572 2011
2
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 56 6
21675912 2011
3
[Hypercalcemia following prophylactic vitamin D administration]. 6 56
3490596 1986
4
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6
22047571 2011
5
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? 56
459990 1979
6
Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 56
1150292 1975
7
Metabolic studies in a patient with idiopathic hypercalcemia of infancy. 56
14031980 1963
8
Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis. 56
13715699 1961
9
Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. 56
13674824 1959
10
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia. 61
30633617 2019
11
A patient with severe hypercalcemia in multiple organ dysfunction syndrome: role of elevated circulating 1alpha,25(OH)2 vitamin D levels. 54
20200933 2010
12
Hypercalcaemia and acute renal failure after major burns: An under-diagnosed condition. 54
19819638 2010
13
Over-expression of CCL3 MIP-1alpha in a blastoid mantle cell lymphoma with hypercalcemia. 54
20050882 2010
14
Characterization and management of hypercalcemia following transplantation for osteopetrosis. 54
19802031 2010
15
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 54
20164288 2010
16
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 54
19953642 2010
17
Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia? 54
20389108 2010
18
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 54
19580466 2010
19
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. 54
19789209 2009
20
Calculated serum calcium is an insufficient surrogate for measured ionized calcium. 54
19135731 2009
21
Vitamin D and cancer mini-symposium: the risk of additional vitamin D. 54
19364661 2009
22
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 54
19389809 2009
23
Emerging topics in pediatric bone and mineral disorders 2008. 54
19615558 2009
24
Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor. 54
19694204 2009
25
Hypercalcemia and overexpression of CYP27B1 in a patient with nephrogenic systemic fibrosis: clinical vignette and literature review. 54
19113910 2009
26
The impact of the assay for measuring albumin on corrected ('adjusted') calcium concentrations. 54
19182240 2009
27
Rapid calcitonin response to experimental hypercalcemia in healthy horses. 54
19135828 2009
28
Roles of calcium-sensing receptor (CaSR) in renal mineral ion transport. 54
19355940 2009
29
The clinical utility of parathyroid hormone-related peptide in the assessment of hypercalcemia. 54
19168044 2009
30
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. 54
19423460 2009
31
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 54
19179454 2009
32
Involvement of molecular mimicry between human T-cell leukemia virus type 1 gp46 and osteoprotegerin in induction of hypercalcemia. 54
19134004 2009
33
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. 54
19073830 2009
34
Reversal of hypercalcemic acute kidney injury by treatment with intravenous bisphosphonates. 54
18839218 2009
35
Enhancement of 1,25-dihydroxyvitamin D3-mediated suppression of experimental autoimmune encephalomyelitis by calcitonin. 54
19282478 2009
36
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 54
19606248 2009
37
Impact of disturbances of calcium and phosphate metabolism on vascular calcification and clinical outcomes in patients with chronic kidney disease. 54
19295198 2009
38
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications. 54
19121777 2009
39
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. 54
18787045 2008
40
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 54
18796518 2008
41
Hypercalcemia during pregnancy, puerperium, and lactation: review and a case report of hypercalcemic crisis after delivery due to excessive production of PTH-related protein (PTHrP) without malignancy (humoral hypercalcemia of pregnancy). 54
18614854 2008
42
Switching of G-protein usage by the calcium-sensing receptor reverses its effect on parathyroid hormone-related protein secretion in normal versus malignant breast cells. 54
18621740 2008
43
Pharmacokinetics of vitamin D toxicity. 54
18689406 2008
44
A novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia. 54
18525093 2008
45
The calcium sensing receptor: from understanding parathyroid calcium homeostasis to bone metastases. 54
18492387 2008
46
Humoral hypercalcemia of benignancy secondary to parathyroid hormone-related protein secreting uterine leiomyoma. 54
18480662 2008
47
The role of calcium/calmodulin-dependent protein kinase cascade on MIP-1alpha gene expression of ATL cells. 54
18249060 2008
48
Lithocholic acid derivatives act as selective vitamin D receptor modulators without inducing hypercalcemia. 54
18180267 2008
49
Role of calcium-sensing receptor in bone biology. 54
18497443 2008
50
A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function. 54
18296474 2008

Variations for Hypercalcemia, Infantile, 1

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

6 (show top 50) (show all 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP24A1 NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro)SNV Pathogenic 631878 rs139763321 20:52789454-52789454 20:54172915-54172915
2 CYP24A1 NM_000782.5(CYP24A1):c.1424_1425CT[1] (p.Cys477fs)short repeat Pathogenic 29675 rs876657376 20:52773934-52773935 20:54157395-54157396
3 CYP24A1 NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)SNV Pathogenic 29676 rs387907322 20:52788183-52788183 20:54171644-54171644
4 CYP24A1 NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)SNV Pathogenic 29681 rs387907324 20:52779282-52779282 20:54162743-54162743
5 CYP24A1 NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter)SNV Pathogenic 29678 rs387907323 20:52788208-52788208 20:54171669-54171669
6 CYP24A1 NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)SNV Pathogenic 29679 rs114368325 20:52774675-52774675 20:54158136-54158136
7 CYP24A1 NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)SNV Pathogenic/Likely pathogenic 208571 rs777947329 20:52775614-52775614 20:54159075-54159075
8 CYP24A1 NM_000782.5(CYP24A1):c.62del (p.Pro21fs)deletion Likely pathogenic 632376 rs774432244 20:52790057-52790057 20:54173518-54173518
9 CYP24A1 NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)SNV Likely pathogenic 694500 20:52790116-52790116 20:54173577-54173577
10 CASR NM_000388.4(CASR):c.2449G>A (p.Val817Ile)SNV Likely pathogenic 374153 rs1057518933 3:122003250-122003250 3:122284403-122284403
11 CYP24A1 NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)SNV Conflicting interpretations of pathogenicity 634948 rs35051736 20:52788189-52788189 20:54171650-54171650
12 CYP24A1 NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met)SNV Conflicting interpretations of pathogenicity 728557 20:52789512-52789512 20:54172973-54172973
13 CYP24A1 NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)SNV Conflicting interpretations of pathogenicity 285894 rs35873579 20:52788190-52788190 20:54171651-54171651
14 CYP24A1 NM_000782.5(CYP24A1):c.425_427AAG[1] (p.Glu143del)short repeat Conflicting interpretations of pathogenicity 29677 rs777676129 20:52789467-52789469 20:54172928-54172930
15 CYP24A1 NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)SNV Conflicting interpretations of pathogenicity 29680 rs6068812 20:52774635-52774635 20:54158096-54158096
16 CYP24A1 NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu)SNV Conflicting interpretations of pathogenicity 338827 rs552660376 20:52782318-52782318 20:54165779-54165779
17 CYP24A1 NM_000782.5(CYP24A1):c.259-5T>CSNV Conflicting interpretations of pathogenicity 338834 rs372360343 20:52789643-52789643 20:54173104-54173104
18 CYP24A1 NM_000782.5(CYP24A1):c.-135C>TSNV Uncertain significance 338846 rs556468258 20:52790253-52790253 20:54173714-54173714
19 CYP24A1 NM_000782.5(CYP24A1):c.-148T>CSNV Uncertain significance 338847 rs866472510 20:52790266-52790266 20:54173727-54173727
20 CYP24A1 NM_000782.5(CYP24A1):c.*317T>CSNV Uncertain significance 338804 rs181138149 20:52770994-52770994 20:54154455-54154455
21 CYP24A1 NM_000782.5(CYP24A1):c.*244C>TSNV Uncertain significance 338805 rs546594298 20:52771067-52771067 20:54154528-54154528
22 CYP24A1 NM_000782.5(CYP24A1):c.*80A>GSNV Uncertain significance 338807 rs560443324 20:52771231-52771231 20:54154692-54154692
23 CYP24A1 NM_000782.5(CYP24A1):c.-307G>TSNV Uncertain significance 338849 rs562743240 20:52790425-52790425 20:54173886-54173886
24 CYP24A1 NM_000782.5(CYP24A1):c.-385G>ASNV Uncertain significance 338850 rs746437890 20:52790503-52790503 20:54173964-54173964
25 CYP24A1 NM_000782.5(CYP24A1):c.-50C>TSNV Uncertain significance 338842 rs886056791 20:52790168-52790168 20:54173629-54173629
26 CYP24A1 NM_000782.5(CYP24A1):c.*1091C>TSNV Uncertain significance 338791 rs531896457 20:52770220-52770220 20:54153681-54153681
27 CYP24A1 NM_000782.5(CYP24A1):c.*1014C>TSNV Uncertain significance 338792 rs886056781 20:52770297-52770297 20:54153758-54153758
28 CYP24A1 NM_000782.5(CYP24A1):c.*838T>GSNV Uncertain significance 338795 rs886056782 20:52770473-52770473 20:54153934-54153934
29 CYP24A1 NM_000782.5(CYP24A1):c.*454G>ASNV Uncertain significance 338801 rs761330571 20:52770857-52770857 20:54154318-54154318
30 CYP24A1 NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met)SNV Uncertain significance 338838 rs550482750 20:52790018-52790018 20:54173479-54173479
31 CYP24A1 NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala)SNV Uncertain significance 338839 rs140851407 20:52790046-52790046 20:54173507-54173507
32 CYP24A1 NM_000782.5(CYP24A1):c.-17C>TSNV Uncertain significance 338840 rs886056790 20:52790135-52790135 20:54173596-54173596
33 CYP24A1 NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=)SNV Uncertain significance 338812 rs73135773 20:52773814-52773814 20:54157275-54157275
34 CYP24A1 NM_000782.5(CYP24A1):c.*748G>ASNV Uncertain significance 338796 rs371011704 20:52770563-52770563 20:54154024-54154024
35 CYP24A1 NM_000782.5(CYP24A1):c.*51G>ASNV Uncertain significance 338809 rs552552032 20:52771260-52771260 20:54154721-54154721
36 CYP24A1 NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu)SNV Uncertain significance 338813 rs886056786 20:52774000-52774000 20:54157461-54157461
37 CYP24A1 NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile)SNV Uncertain significance 338814 rs373243941 20:52774654-52774654 20:54158115-54158115
38 CYP24A1 NM_000782.5(CYP24A1):c.-112T>CSNV Uncertain significance 898655 20:52790230-52790230 20:54173691-54173691
39 CYP24A1 NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala)SNV Uncertain significance 897019 20:52789500-52789500 20:54172961-54172961
40 CYP24A1 NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser)SNV Uncertain significance 897020 20:52789521-52789521 20:54172982-54172982
41 CYP24A1 NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr)SNV Uncertain significance 897021 20:52789601-52789601 20:54173062-54173062
42 CYP24A1 NM_000782.5(CYP24A1):c.*1095C>GSNV Uncertain significance 338790 rs886056780 20:52770216-52770216 20:54153677-54153677
43 CYP24A1 NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu)SNV Uncertain significance 338816 rs189801930 20:52775529-52775529 20:54158990-54158990
44 CYP24A1 NM_000782.5(CYP24A1):c.991-9G>ASNV Uncertain significance 338820 rs886056787 20:52775671-52775671 20:54159132-54159132
45 CYP24A1 NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro)SNV Uncertain significance 338824 rs373902459 20:52781059-52781059 20:54164520-54164520
46 CYP24A1 NM_000782.5(CYP24A1):c.*1288A>GSNV Uncertain significance 896869 20:52770023-52770023 20:54153484-54153484
47 CYP24A1 NM_000782.5(CYP24A1):c.*1135C>TSNV Uncertain significance 896870 20:52770176-52770176 20:54153637-54153637
48 CYP24A1 NM_000782.5(CYP24A1):c.*1122A>CSNV Uncertain significance 896871 20:52770189-52770189 20:54153650-54153650
49 CYP24A1 NM_000782.5(CYP24A1):c.*987T>CSNV Uncertain significance 896872 20:52770324-52770324 20:54153785-54153785
50 CYP24A1 NM_000782.5(CYP24A1):c.*549A>TSNV Uncertain significance 897371 20:52770762-52770762 20:54154223-54154223

UniProtKB/Swiss-Prot genetic disease variations for Hypercalcemia, Infantile, 1:

73
# Symbol AA change Variation ID SNP ID
1 CYP24A1 p.Leu409Ser VAR_048466 rs6068812
2 CYP24A1 p.Arg159Gln VAR_066409 rs387907322
3 CYP24A1 p.Glu322Lys VAR_066410 rs387907324
4 CYP24A1 p.Arg396Trp VAR_066411 rs114368325

Expression for Hypercalcemia, Infantile, 1

Search GEO for disease gene expression data for Hypercalcemia, Infantile, 1.

Pathways for Hypercalcemia, Infantile, 1

Pathways related to Hypercalcemia, Infantile, 1 according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

Pathways related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 PTHLH PTH1R PTH CASR CALCA
2
Show member pathways
12.1 PTHLH PTH1R PTH CALCA
3 11.79 PTHLH PTH1R PTH CALCA
4 11.42 PTHLH PTH1R PTH
5 11.27 VDR PTH1R PTH
6 11.13 VDR PTHLH PTH1R PTH CYP24A1 CASR
7 11.05 VDR PTHLH PTH1R PTH
8 11.02 VDR CYP24A1
9 11.01 VDR PTH1R PTH CYP24A1 CALCA
10 10.6 PTH1R PTH
11 10.43 VDR PTH CYP24A1

GO Terms for Hypercalcemia, Infantile, 1

Cellular components related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.02 VDR PTH1R PTH CASR CALCA

Biological processes related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.85 PTHLH PTH1R PTH CASR CALCA
2 cell-cell signaling GO:0007267 9.72 PTHLH PTH CALCA
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.57 PTH1R CASR
4 bone mineralization GO:0030282 9.56 PTHLH PTH1R
5 bone resorption GO:0045453 9.54 PTH1R PTH
6 vasodilation GO:0042311 9.52 CASR CALCA
7 negative regulation of chondrocyte differentiation GO:0032331 9.51 PTHLH PTH
8 osteoblast development GO:0002076 9.49 PTHLH PTH1R
9 response to vitamin D GO:0033280 9.48 PTH CYP24A1
10 skeletal system development GO:0001501 9.46 VDR PTHLH PTH1R PTH
11 vitamin D metabolic process GO:0042359 9.43 VDR CYP24A1
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH1R PTH
13 response to fibroblast growth factor GO:0071774 9.37 PTH CASR
14 vitamin D receptor signaling pathway GO:0070561 9.32 VDR CYP24A1
15 cAMP metabolic process GO:0046058 9.26 PTHLH PTH
16 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.26 PTHLH PTH1R PTH CALCA
17 cellular calcium ion homeostasis GO:0006874 9.02 VDR PTH1R PTH CASR CALCA

Molecular functions related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 PTHLH PTH CALCA
2 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Hypercalcemia, Infantile, 1

3 CDC
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11 DGIdb
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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