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 57 74
Idiopathic Hypercalcemia of Infancy 74 29 6
Hypercalcemia Infantile 74 37
Hypercalcemia 44 72
Hcinf1 57 74
Hypercalcemia, Idiopathic, of Infancy 57
Hypercalcemia, Infantile, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypercalcemia, infantile, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

KEGG 37 H01371
MeSH 44 D006934
UMLS 72 C0020437

Summaries for Hypercalcemia, Infantile, 1

OMIM : 57 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 idiopathic hypercalcemia of infancy, is related to hypocalciuric hypercalcemia, familial, type i and hypocalciuric hypercalcemia, familial, type ii. 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 Cinacalcet 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 : 37
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 : 74 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 940)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 34.7 PTH CASR
2 hypocalciuric hypercalcemia, familial, type ii 34.6 PTH CASR
3 familial hypocalciuric hypercalcemia 34.4 PTH CASR
4 hypocalciuric hypercalcemia, familial, type iii 34.2 PTHLH PTH CASR
5 hyperparathyroidism, neonatal severe 33.1 PRKAR1A CASR
6 familial isolated hyperparathyroidism 32.7 PTH CASR
7 parathyroid carcinoma 32.4 PTH CASR CALCA
8 metaphyseal chondrodysplasia, jansen type 31.0 PTHLH PTH1R PTH CALCA
9 multiple endocrine neoplasia 30.7 PRKAR1A CALCA
10 bone resorption disease 30.4 VDR PTH CALCA
11 hypoadrenalism 30.3 PTHLH CALCA
12 sclerosing hepatic carcinoma 30.2 PTHLH PTH
13 hypocalcemia, autosomal dominant 1 30.1 VDR PTH PRKAR1A CASR CALCA
14 islet cell tumor 30.1 PTHLH CALCA
15 hypervitaminosis d 30.0 VDR PTH
16 nephrolithiasis, calcium oxalate 30.0 VDR CASR
17 osteitis fibrosa 29.9 PTH CASR CALCA
18 hypercalciuria, absorptive, 2 29.8 VDR CASR
19 multiple endocrine neoplasia, type i 29.8 PTH PRKAR1A CASR
20 autoimmune hypoparathyroidism 29.7 PRKAR1A CASR
21 hypoparathyroidism 29.7 PTHLH PTH1R PTH CASR
22 hyperphosphatemia 29.7 VDR PTH CASR
23 hypoparathyroidism, familial isolated 29.6 PTH CASR
24 nephrocalcinosis 29.6 PTH CYP24A1 CASR
25 glucocorticoid-induced osteoporosis 29.4 PTH CALCA
26 uremia 29.4 VDR PTH CASR
27 hypophosphatemic rickets, x-linked recessive 29.3 VDR CYP24A1
28 primary hyperparathyroidism 29.2 VDR PTHLH PTH1R PTH PRKAR1A CASR
29 cloacogenic carcinoma 29.2 PTHLH PTH CALCA
30 kidney disease 29.2 VDR PTH CASR
31 multiple endocrine neoplasia, type iia 29.1 PTH CALCA
32 calciphylaxis 29.0 VDR PTH CASR
33 parathyroid adenoma 29.0 VDR PTHLH PTH CASR CALCA
34 pseudohypoparathyroidism 28.9 PTHLH PTH1R PTH
35 hyperparathyroidism 28.9 VDR PTHLH PTH PRKAR1A CASR CALCA
36 idiopathic hypercalciuria 28.8 VDR PRKAR1A CASR
37 renal osteodystrophy 28.8 VDR PTH CASR CALCA
38 secondary hyperparathyroidism of renal origin 28.4 VDR PTH CASR CALCA
39 osteomalacia 28.3 VDR PTH CYP24A1 CASR CALCA
40 bone disease 27.9 VDR PTHLH PTH1R PTH CASR CALCA
41 parathyroid gland disease 27.7 VDR PTHLH PTH CASR CALCA
42 mineral metabolism disease 27.0 VDR PTHLH PTH CYP24A1 CASR CALCA
43 osteoporosis 27.0 VDR PTHLH PTH1R PTH PRKAR1A CASR
44 blue diaper syndrome 12.1
45 myeloma, multiple 11.7
46 hyperparathyroidism 2 with jaw tumors 11.6
47 hypophosphatasia 11.6
48 rickets 11.4
49 hyperparathyroidism 1 11.4
50 hypophosphatasia, infantile 11.4

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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 occasional (7.5%) HP:0000787
2 intellectual disability 32 HP:0001249
3 failure to thrive 32 HP:0001508
4 dehydration 32 HP:0001944
5 vomiting 32 HP:0002013
6 abnormality of the eye 32 HP:0000478
7 generalized hypotonia 32 HP:0001290
8 weight loss 32 HP:0001824
9 thick lower lip vermilion 32 HP:0000179
10 hypercalciuria 32 HP:0002150
11 nephrocalcinosis 32 HP:0000121
12 pulmonic stenosis 32 HP:0001642
13 elfin facies 32 HP:0004428
14 lethargy 32 HP:0001254
15 aortic valve stenosis 32 HP:0001650
16 infantile hypercalcemia 32 HP:0008250
17 polyuria 32 HP:0000103

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
2 endocrine/exocrine gland MP:0005379 9.91 CASR PRKAR1A PTH PTH1R PTHLH VDR
3 craniofacial MP:0005382 9.88 PRKAR1A PTH PTH1R PTHLH VDR
4 homeostasis/metabolism MP:0005376 9.87 CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
5 digestive/alimentary MP:0005381 9.85 CASR PRKAR1A PTH1R PTHLH VDR
6 hematopoietic system MP:0005397 9.85 CASR PRKAR1A PTH PTH1R PTHLH VDR
7 immune system MP:0005387 9.73 CASR PRKAR1A PTH PTH1R PTHLH VDR
8 mortality/aging MP:0010768 9.5 CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH
9 limbs/digits/tail MP:0005371 9.46 PTH PTH1R PTHLH VDR
10 skeleton MP:0005390 9.17 CASR CYP24A1 PRKAR1A PTH PTH1R PTHLH

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

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

(show top 50) (show all 211)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Cinacalcet Approved Phase 4 226256-56-0 156419
3
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
4
Mesna Approved, Investigational Phase 4 3375-50-6 598
5
Lenograstim Approved, Investigational Phase 4 135968-09-1
6
Pamidronate Approved Phase 4 40391-99-9 4674
7
Cefpirome Approved Phase 4 84957-29-9 5479539
8
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
9
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
10
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
11
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
12
Polyestradiol phosphate Approved Phase 4 28014-46-2
13
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
14
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
15
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
17
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
19
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
20
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
21
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24 Hypoglycemic Agents Phase 4
25 Fibrinolytic Agents Phase 4
26 Respiratory System Agents Phase 4
27 Anti-Asthmatic Agents Phase 4
28 Betamethasone-17,21-dipropionate Phase 4
29 Betamethasone Valerate Phase 4 2152-44-5
30 Betamethasone sodium phosphate Phase 4
31 Betamethasone acetate Phase 4
32 Betamethasone benzoate Phase 4
33 Hormone Antagonists Phase 4
34 Calcimimetic Agents Phase 4
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
36 Antibiotics, Antitubercular Phase 4
37 1 alpha-hydroxyergocalciferol Phase 4
38 Antibodies Phase 4
39 Immunoglobulins Phase 4
40 Immunoglobulin A Phase 4
41 Adjuvants, Immunologic Phase 4
42 Contraceptives, Oral Phase 4
43 Contraceptive Agents Phase 4
44 Contraceptives, Oral, Combined Phase 4
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46 Cephalosporins Phase 4
47 Topoisomerase Inhibitors Phase 4
48 Estradiol 3-benzoate Phase 4
49 Estradiol 17 beta-cypionate Phase 4
50 Calcium, Dietary Phase 4

Interventional clinical trials:

(show top 50) (show all 196)
# 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 Comparison of Slow Efficiency Daily Dialysis (SLEDD) With Unfractionated Heparin Versus Citrasate in Critically Ill Patients. Unknown status NCT01228292 Phase 4 Unfractionated heparin;Citrasate
3 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
4 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 Unknown status NCT01052181 Phase 4 Cholecalciferol;placebo
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 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
12 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
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 Randomized, Multicentric Phase IV Clinical Trial for the Administration of Pamidronate in Breast Cancer Patients With Bone Metastases Completed NCT00128297 Phase 4 Pamidronate
15 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
16 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
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 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
19 The Safety and Short-Term Efficacy of Calcitriol in the Treatment of Immunoglobulin A Nephropathy Completed NCT00319761 Phase 4 Calcitriol
20 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
21 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
22 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
23 The Efficacy and Safety of Niacin on Hyperphosphatemia in End Stage Renal Disease Patients Undergoing Haemodialysis Not yet recruiting NCT03163576 Phase 4 Niacin;Phosphate Binder
24 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
25 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
26 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
27 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
28 Does Adjuvant Zoledronic Acid Reduce Recurrence in Patients With High Risk Localized Breast Cancer? Unknown status NCT00072020 Phase 3 zoledronic acid
29 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
30 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
31 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
32 Cholecalciferol Supplementation in Critically Ill Patients With Severe Vitamin D Deficiency in Intensive Care Unit- A Randomized Controlled Trial. Unknown status NCT02868827 Phase 2, Phase 3 Cholecalciferol
33 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
34 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
35 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
36 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
37 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
38 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
39 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
40 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
41 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
42 Single Dosing of Zoledronic Acid in Cancer Therapy Induced Bone Loss (CTIBL) Completed NCT00712985 Phase 3 Zometa
43 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
44 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
45 Clinical Effects of Parathyroid Hormone as Adjuvant Therapy for Bone Healing After Sternotomy. Completed NCT01466829 Phase 3 Parathyroid hormone;Placebo
46 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
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 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
49 Evaluation d'Une stratégie thérapeutique d'Association médicamenteuse Pour la Prise en Charge de la Maladie d'Alzheimer et Des Maladies apparentées au Stade modéré Completed NCT01409694 Phase 3 Memantine;Vitamin D;Vitamin D placebo
50 An 18-Month Open Label Extension Study (OLES) of the Safety and Efficacy of Recombinant Human Parathyroid Hormone, rhPTH(1-84), ALX1-11, in Women With Postmenopausal Osteoporosis Who Participated in Protocol ALX1-11-93001 (TOP Study) Completed NCT00172133 Phase 3 ALX1-11 (drug)

Search NIH Clinical Center for Hypercalcemia, Infantile, 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Calcitonin
Cinacalcet
Dexamethasone
Edetic Acid
Edetic Acid, Disodium Salt
EDTA TETRASODIUM
Etidronate
Etidronate Disodium
gallium nitrate
Methylprednisolone
pamidronate
Pamidronate Disodium
Prednisone
PREDNISONE PWDR
salmon calcitonin
Salmon Calcitonin
Triamcinolone
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 Idiopathic Hypercalcemia of Infancy 29 CYP24A1

Anatomical Context for Hypercalcemia, Infantile, 1

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

41
Bone, Breast, Kidney, Prostate, Lung, T Cells, Thyroid

Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

(show top 50) (show all 502)
# Title Authors PMID Year
1
CYP24A1 mutations in idiopathic infantile hypercalcemia. 8 71
22047572 2011
2
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 8 71
21675912 2011
3
[Hypercalcemia following prophylactic vitamin D administration]. 8 71
3490596 1986
4
Metabolic studies in a patient with idiopathic hypercalcemia of infancy. 38 8
14031980 1963
5
CYP24A1 mutations in idiopathic infantile hypercalcemia. 71
22047571 2011
6
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? 8
459990 1979
7
Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 8
1150292 1975
8
Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis. 8
13715699 1961
9
Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. 8
13674824 1959
10
50 years ago in the Journal of Pediatrics: metabolic studies in a patient with idiopathic hypercalcemia of infancy. 38
23527844 2013
11
A patient with severe hypercalcemia in multiple organ dysfunction syndrome: role of elevated circulating 1alpha,25(OH)2 vitamin D levels. 9
20200933 2010
12
Hypercalcaemia and acute renal failure after major burns: An under-diagnosed condition. 9
19819638 2010
13
Over-expression of CCL3 MIP-1alpha in a blastoid mantle cell lymphoma with hypercalcemia. 9
20050882 2010
14
Characterization and management of hypercalcemia following transplantation for osteopetrosis. 9
19802031 2010
15
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 9
20164288 2010
16
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 9
19953642 2010
17
Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia? 9
20389108 2010
18
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 9
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. 9
19789209 2009
20
Calculated serum calcium is an insufficient surrogate for measured ionized calcium. 9
19135731 2009
21
Vitamin D and cancer mini-symposium: the risk of additional vitamin D. 9
19364661 2009
22
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 9
19389809 2009
23
Emerging topics in pediatric bone and mineral disorders 2008. 9
19615558 2009
24
Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor. 9
19694204 2009
25
Hypercalcemia and overexpression of CYP27B1 in a patient with nephrogenic systemic fibrosis: clinical vignette and literature review. 9
19113910 2009
26
The impact of the assay for measuring albumin on corrected ('adjusted') calcium concentrations. 9
19182240 2009
27
Rapid calcitonin response to experimental hypercalcemia in healthy horses. 9
19135828 2009
28
Roles of calcium-sensing receptor (CaSR) in renal mineral ion transport. 9
19355940 2009
29
The clinical utility of parathyroid hormone-related peptide in the assessment of hypercalcemia. 9
19168044 2009
30
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. 9
19423460 2009
31
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 9
19179454 2009
32
Involvement of molecular mimicry between human T-cell leukemia virus type 1 gp46 and osteoprotegerin in induction of hypercalcemia. 9
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. 9
19073830 2009
34
Enhancement of 1,25-dihydroxyvitamin D3-mediated suppression of experimental autoimmune encephalomyelitis by calcitonin. 9
19282478 2009
35
Reversal of hypercalcemic acute kidney injury by treatment with intravenous bisphosphonates. 9
18839218 2009
36
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications. 9
19121777 2009
37
Impact of disturbances of calcium and phosphate metabolism on vascular calcification and clinical outcomes in patients with chronic kidney disease. 9
19295198 2009
38
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 9
19606248 2009
39
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. 9
18787045 2008
40
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 9
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). 9
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. 9
18621740 2008
43
Pharmacokinetics of vitamin D toxicity. 9
18689406 2008
44
A novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia. 9
18525093 2008
45
The calcium sensing receptor: from understanding parathyroid calcium homeostasis to bone metastases. 9
18492387 2008
46
Humoral hypercalcemia of benignancy secondary to parathyroid hormone-related protein secreting uterine leiomyoma. 9
18480662 2008
47
The role of calcium/calmodulin-dependent protein kinase cascade on MIP-1alpha gene expression of ATL cells. 9
18249060 2008
48
Lithocholic acid derivatives act as selective vitamin D receptor modulators without inducing hypercalcemia. 9
18180267 2008
49
A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function. 9
18296474 2008
50
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 9
18328986 2008

Variations for Hypercalcemia, Infantile, 1

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYP24A1 NM_000782.5(CYP24A1): c.1424_1425CT[1] (p.Cys477fs) short repeat Pathogenic rs876657376 20:52773934-52773935 20:54157395-54157396
2 CYP24A1 NM_000782.5(CYP24A1): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs387907322 20:52788183-52788183 20:54171644-54171644
3 CYP24A1 NM_000782.5(CYP24A1): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs387907323 20:52788208-52788208 20:54171669-54171669
4 CYP24A1 NM_000782.5(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 20:52774675-52774675 20:54158136-54158136
5 CYP24A1 NM_000782.5(CYP24A1): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs387907324 20:52779282-52779282 20:54162743-54162743
6 CYP24A1 NM_000782.5(CYP24A1): c.443T> C (p.Leu148Pro) single nucleotide variant Pathogenic 20:52789454-52789454 20:54172915-54172915
7 CYP24A1 NM_000782.5(CYP24A1): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic/Likely pathogenic rs777947329 20:52775614-52775614 20:54159075-54159075
8 CYP24A1 NM_000782.5(CYP24A1): c.1226T> C (p.Leu409Ser) single nucleotide variant Likely pathogenic rs6068812 20:52774635-52774635 20:54158096-54158096
9 CASR NM_000388.4(CASR): c.2449G> A (p.Val817Ile) single nucleotide variant Likely pathogenic rs1057518933 3:122003250-122003250 3:122284403-122284403
10 CYP24A1 NM_000782.5(CYP24A1): c.62del (p.Pro21fs) deletion Likely pathogenic 20:52790056-52790057 20:54173519-54173519
11 CYP24A1 NM_000782.5(CYP24A1): c.425_427AAG[1] (p.Glu143del) short repeat Conflicting interpretations of pathogenicity rs777676129 20:52789467-52789469 20:54172928-54172930
12 CYP24A1 NM_000782.5(CYP24A1): c.469C> T (p.Arg157Trp) single nucleotide variant Uncertain significance rs35873579 20:52788190-52788190 20:54171651-54171651
13 CYP24A1 NM_000782.5(CYP24A1): c.552C> T (p.Ala184=) single nucleotide variant Benign rs2296241 20:52786219-52786219 20:54169680-54169680

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

74
# 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:

37
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 PTHLH PTH1R PTH CASR CALCA
2
Show member pathways
12.07 PTHLH PTH1R PTH CALCA
3 11.79 PTHLH PTH1R PTH CALCA
4 11.71 VDR PRKAR1A CASR
5 11.39 PTHLH PTH1R PTH
6 11.21 VDR PTH1R
7 11.21 VDR PTH1R PTH CYP24A1 CALCA
8 11.13 VDR PTHLH PTH1R PTH CYP24A1 CASR
9 11.02 VDR CYP24A1
10 10.94 VDR PTHLH PTH1R PTH PRKAR1A
11 10.6 PTH1R PTH
12 10.43 VDR PTH CYP24A1

GO Terms for Hypercalcemia, Infantile, 1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.88 PTHLH PTH1R PTH CASR CALCA
2 negative regulation of cell proliferation GO:0008285 9.75 VDR PTHLH PTH1R
3 cell-cell signaling GO:0007267 9.73 PTHLH PTH CALCA
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.57 PTH1R CASR
5 bone resorption GO:0045453 9.55 PTH1R PTH
6 response to vitamin D GO:0033280 9.52 PTH CYP24A1
7 osteoblast development GO:0002076 9.51 PTHLH PTH1R
8 negative regulation of chondrocyte differentiation GO:0032331 9.49 PTHLH PTH
9 vitamin D metabolic process GO:0042359 9.46 VDR CYP24A1
10 skeletal system development GO:0001501 9.46 VDR PTHLH PTH1R PTH
11 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.43 PTH1R PTH
12 response to fibroblast growth factor GO:0071774 9.4 PTH CASR
13 vitamin D receptor signaling pathway GO:0070561 9.37 VDR CYP24A1
14 cAMP metabolic process GO:0046058 9.32 PTHLH PTH
15 bone mineralization GO:0030282 9.26 PTHLH PTH1R
16 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.26 PTHLH PTH1R PTH CALCA
17 vasodilation GO:0042311 9.24 CASR
18 cellular calcium ion homeostasis GO:0006874 8.92 VDR PTH1R PTH CASR

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH
2 hormone activity GO:0005179 8.8 PTHLH PTH CALCA

Sources for Hypercalcemia, Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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