HCINF1
MCID: HYP726
MIFTS: 57

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
Idiopathic Hypercalcemia of Infancy 73 29 6
Hypercalcemia Infantile 73 36
Hypercalcemia 43 71
Hcinf1 56 73
Hypercalcemia, Idiopathic, of Infancy 56
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 idiopathic hypercalcemia of infancy, 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 945)
# 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 rickets 31.1 VDR PTH CYP24A1 CASR
9 nephrocalcinosis 30.6 PTH CYP24A1 CASR
10 graves disease 1 30.6 PTH CALCA
11 hypocalcemia, autosomal dominant 1 30.5 VDR PTHLH PTH CASR CALCA
12 primary hyperparathyroidism 30.3 VDR PTHLH PTH1R PTH CASR CALCA
13 mammary paget's disease 30.3 PTH CALCA
14 hypoadrenalism 30.2 PTHLH CALCA
15 islet cell tumor 30.1 PTHLH CALCA
16 sclerosing hepatic carcinoma 30.0 PTHLH PTH
17 hyperparathyroidism 29.9 VDR PTHLH PTH CASR CALCA
18 osteitis fibrosa 29.9 PTH CASR CALCA
19 pediatric ovarian dysgerminoma 29.8 PTHLH PTH
20 hypercalciuria, absorptive, 2 29.7 VDR CASR
21 bone giant cell tumor 29.7 PTH CALCA
22 fibrous dysplasia 29.7 PTHLH CALCA
23 hyperphosphatemia 29.7 VDR PTH CASR
24 osteogenic sarcoma 29.7 PTHLH PTH1R PTH
25 multinodular goiter 29.6 PTH CALCA
26 hypophosphatemic rickets, x-linked recessive 29.5 VDR CYP24A1
27 hypoparathyroidism, familial isolated 29.5 PTH CASR
28 hypophosphatemia 29.4 VDR PTHLH PTH1R PTH
29 giant cell reparative granuloma 29.4 PTH CALCA
30 uremia 29.4 VDR PTH CASR
31 idiopathic hypercalciuria 29.4 VDR CASR
32 chronic kidney disease 29.4 VDR PTH CASR
33 hyperprolactinemia 29.3 PTHLH PTH
34 multiple endocrine neoplasia, type iia 29.3 PTH CALCA
35 parathyroid adenoma 29.2 VDR PTHLH PTH CASR CALCA
36 malignant ovarian brenner tumor 29.1 PTHLH PTH CALCA
37 secondary hyperparathyroidism 29.0 VDR PTH CYP24A1 CASR CALCA
38 calciphylaxis 29.0 VDR PTH CASR
39 acrodysostosis 28.9 PTHLH PTH1R PTH
40 bone resorption disease 28.9 VDR PTHLH PTH1R PTH CASR CALCA
41 brittle bone disorder 28.8 PTH1R PTH CALCA
42 glucocorticoid-induced osteoporosis 28.6 VDR PTH CALCA
43 nephrolithiasis, calcium oxalate 28.5 VDR PTHLH PTH CYP24A1 CASR CALCA
44 pseudohypoparathyroidism 28.4 PTHLH PTH1R PTH CALCA
45 bone disease 28.3 VDR PTHLH PTH1R PTH CASR CALCA
46 hypoparathyroidism 28.3 VDR PTHLH PTH1R PTH CASR CALCA
47 paget's disease of bone 28.2 VDR PTHLH PTH CASR CALCA
48 renal osteodystrophy 28.2 VDR PTH1R PTH CASR CALCA
49 hypervitaminosis d 28.2 VDR PTHLH PTH PDLIM1 CYP24A1 CALCA
50 osteomalacia 28.1 VDR PTHLH PTH CYP24A1 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 abnormality of the eye 31 HP:0000478
7 generalized hypotonia 31 HP:0001290
8 weight loss 31 HP:0001824
9 thick lower lip vermilion 31 HP:0000179
10 hypercalciuria 31 HP:0002150
11 nephrocalcinosis 31 HP:0000121
12 pulmonic stenosis 31 HP:0001642
13 elfin facies 31 HP:0004428
14 lethargy 31 HP:0001254
15 aortic valve stenosis 31 HP:0001650
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 207)
# 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
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
6
Mesna Approved, Investigational Phase 4 3375-50-6 598
7
Lenograstim Approved, Investigational Phase 4 135968-09-1
8
Pamidronate Approved Phase 4 40391-99-9 4674
9
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
10
Polyestradiol phosphate Approved Phase 4 28014-46-2
11
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
12
Cefpirome Approved Phase 4 84957-29-9 5479539
13
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
14
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
15
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
17
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
18
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
19
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
20
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
21
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
22
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
23
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
24
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
25 Respiratory System Agents Phase 4
26 Anti-Asthmatic Agents Phase 4
27 Betamethasone-17,21-dipropionate Phase 4
28 Betamethasone Valerate Phase 4 2152-44-5
29 Betamethasone acetate Phase 4
30 Betamethasone sodium phosphate Phase 4
31 Betamethasone benzoate Phase 4
32 Fibrinolytic Agents Phase 4
33 Vitamin B Complex Phase 4
34 Vitamin B3 Phase 4
35 Folate Phase 4
36 Vitamin B9 Phase 4
37 Nicotinic Acids Phase 4
38 Hormone Antagonists Phase 4
39 Calcimimetic Agents Phase 4
40 Anti-Infective Agents Phase 4
41 Antibiotics, Antitubercular Phase 4
42 Anti-Bacterial Agents Phase 4
43 Antibodies Phase 4
44 Immunoglobulin A Phase 4
45 Immunoglobulins Phase 4
46 1 alpha-hydroxyergocalciferol Phase 4
47 insulin Phase 4
48 Insulin, Globin Zinc Phase 4
49 Hypoglycemic Agents Phase 4
50 Topoisomerase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 200)
# 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 Initial Dosing of Paricalcitol Based on iPTH Parathyroid Hormone Levels in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
8 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
9 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
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 Randomized, Multicentric Phase IV Clinical Trial for the Administration of Pamidronate in Breast Cancer Patients With Bone Metastases Completed NCT00128297 Phase 4 Pamidronate
13 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
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 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
16 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)
17 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
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 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
22 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
23 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
24 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
25 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
26 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
27 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
28 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
29 Does Adjuvant Zoledronic Acid Reduce Recurrence in Patients With High Risk Localized Breast Cancer? Unknown status NCT00072020 Phase 3 zoledronic acid
30 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
31 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
32 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
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 Value of 18F -Fluorocholine (18F-FCH) PET in Localizing Parathyroid Lesions: Comparison With 99mTc-sestamibi (MIBI) Scan. Completed NCT03555487 Phase 3 18F-choline PET
46 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
47 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
48 Clinical Effects of Parathyroid Hormone as Adjuvant Therapy for Bone Healing After Sternotomy. Completed NCT01466829 Phase 3 Parathyroid hormone;Placebo
49 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)
50 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

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 Idiopathic Hypercalcemia of Infancy 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 502)
# Title Authors PMID Year
1
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6 56
22047572 2011
2
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 6 56
21675912 2011
3
[Hypercalcemia following prophylactic vitamin D administration]. 56 6
3490596 1986
4
Metabolic studies in a patient with idiopathic hypercalcemia of infancy. 61 56
14031980 1963
5
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6
22047571 2011
6
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? 56
459990 1979
7
Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 56
1150292 1975
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
50 years ago in the Journal of Pediatrics: metabolic studies in a patient with idiopathic hypercalcemia of infancy. 61
23527844 2013
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
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications. 54
19121777 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
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 54
19606248 2009
39
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 54
18796518 2008
40
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. 54
18787045 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 all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP24A1 NM_000782.5(CYP24A1):c.1424_1425CT[1] (p.Cys477fs)short repeat Pathogenic 29675 rs876657376 20:52773934-52773935 20:54157395-54157396
2 CYP24A1 NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)SNV Pathogenic 29676 rs387907322 20:52788183-52788183 20:54171644-54171644
3 CYP24A1 NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter)SNV Pathogenic 29678 rs387907323 20:52788208-52788208 20:54171669-54171669
4 CYP24A1 NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)SNV Pathogenic 29679 rs114368325 20:52774675-52774675 20:54158136-54158136
5 CYP24A1 NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)SNV Pathogenic 29681 rs387907324 20:52779282-52779282 20:54162743-54162743
6 CYP24A1 NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro)SNV Pathogenic 631878 rs139763321 20:52789454-52789454 20:54172915-54172915
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.1226T>C (p.Leu409Ser)SNV Likely pathogenic 29680 rs6068812 20:52774635-52774635 20:54158096-54158096
9 CYP24A1 NM_000782.5(CYP24A1):c.62del (p.Pro21fs)deletion Likely pathogenic 632376 rs774432244 20:52790056-52790057 20:54173519-54173519
10 CYP24A1 NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)SNV Likely pathogenic 694500 20:52790116-52790116 20:54173577-54173577
11 CASR NM_000388.4(CASR):c.2449G>A (p.Val817Ile)SNV Likely pathogenic 374153 rs1057518933 3:122003250-122003250 3:122284403-122284403
12 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
13 CYP24A1 NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)SNV Uncertain significance 285894 rs35873579 20:52788190-52788190 20:54171651-54171651
14 CYP24A1 NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)SNV Benign 338831 rs2296241 20:52786219-52786219 20:54169680-54169680

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 16)
# 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 9.71 PTHLH PTH CALCA
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.56 PTH1R CASR
4 bone mineralization GO:0030282 9.55 PTHLH PTH1R
5 bone resorption GO:0045453 9.52 PTH1R PTH
6 negative regulation of chondrocyte differentiation GO:0032331 9.51 PTHLH PTH
7 osteoblast development GO:0002076 9.49 PTHLH PTH1R
8 response to vitamin D GO:0033280 9.48 PTH CYP24A1
9 skeletal system development GO:0001501 9.46 VDR PTHLH PTH1R PTH
10 vitamin D metabolic process GO:0042359 9.43 VDR CYP24A1
11 response to fibroblast growth factor GO:0071774 9.4 PTH CASR
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.37 PTH1R PTH
13 vitamin D receptor signaling pathway GO:0070561 9.32 VDR CYP24A1
14 cAMP metabolic process GO:0046058 9.26 PTHLH PTH
15 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.26 PTHLH PTH1R PTH CALCA
16 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 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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