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HCINF1
MCID: HYP726
MIFTS: 58

Hypercalcemia, Infantile, 1 (HCINF1)

Categories: Genetic diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypercalcemia, Infantile, 1

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MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Name: Hypercalcemia, Infantile, 1 57 72 29 6
Idiopathic Hypercalcemia of Infancy 72 6
Hypercalcemia Infantile 72 36
Hypercalcemia 44 70
Hcinf1 57 72
Hypercalcemia, Idiopathic, of Infancy 57
Hypercalcemia, Infantile, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)


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Summaries for Hypercalcemia, Infantile, 1

About this section
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) (Updated 05-Apr-2021)

MalaCards based summary : Hypercalcemia, Infantile, 1, also known as idiopathic hypercalcemia of infancy, is related to idiopathic infantile hypercalcemia and hypocalciuric hypercalcemia, familial, type i. 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 Cinacalcet and Salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate 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 : 72 Hypercalcemia, infantile, 1: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.

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Related Diseases for Hypercalcemia, Infantile, 1

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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 974)
# Related Disease Score Top Affiliating Genes
1 idiopathic infantile hypercalcemia 32.8 SLC34A1 CYP24A1
2 hypocalciuric hypercalcemia, familial, type i 32.8 PTH CASR
3 hypocalciuric hypercalcemia, familial, type iii 32.8 PTH CASR
4 hypocalciuric hypercalcemia, familial, type ii 32.7 PTH CASR
5 familial hypocalciuric hypercalcemia 31.6 VDR PTHLH PTH CASR CALCA
6 parathyroid carcinoma 31.5 PTH CASR CALCA
7 nephrocalcinosis 30.9 SLC34A1 CYP24A1 CASR
8 metaphyseal chondrodysplasia, jansen type 30.7 PTHLH PTH1R PTH CASR
9 rickets 30.5 VDR SLC34A1 PTH CYP24A1 CASR
10 hyperparathyroidism 30.5 VDR PTHLH PTH CASR CALCA
11 graves disease 1 30.5 PTH CALCA
12 hypocalcemia, autosomal dominant 1 30.3 VDR PTHLH PTH CASR CALCA
13 mammary paget's disease 30.2 PTH CALCA
14 primary hyperparathyroidism 30.2 VDR PTHLH PTH1R PTH CASR CALCA
15 islet cell tumor 30.1 PTHLH CALCA
16 hypercalciuria, absorptive, 2 30.1 VDR CASR
17 urolithiasis 30.1 VDR CASR
18 end stage renal disease 30.1 VDR PTH CASR
19 nephrolithiasis, calcium oxalate 30.0 VDR SLC34A1 CASR
20 osteitis fibrosa 29.9 PTH CASR CALCA
21 sclerosing hepatic carcinoma 29.8 PTHLH PTH
22 hyperphosphatemia 29.8 VDR SLC34A1 PTH CASR
23 parathyroid adenoma 29.8 VDR PTHLH PTH CASR CALCA
24 uremia 29.8 VDR PTH CASR
25 nephrolithiasis 29.8 VDR SLC34A1 PTH CYP24A1 CASR
26 bone resorption disease 29.8 VDR PTHLH PTH1R PTH CALCA
27 idiopathic hypercalciuria 29.7 VDR CASR
28 pediatric ovarian dysgerminoma 29.6 PTHLH PTH
29 multinodular goiter 29.6 PTH CALCA
30 hypophosphatemic rickets, x-linked recessive 29.6 VDR SLC34A1 CYP24A1
31 bone giant cell tumor 29.6 PTH CALCA
32 thyroid gland medullary carcinoma 29.6 PTH CALCA
33 bartter disease 29.6 SLC34A1 PTH CASR
34 osteogenic sarcoma 29.6 PTHLH PTH1R PTH
35 diabetes insipidus, nephrogenic, autosomal 29.5 PTH CASR
36 hypophosphatemia 29.5 VDR SLC34A1 PTHLH PTH1R PTH
37 hyperprolactinemia 29.4 PTHLH PTH
38 renal osteodystrophy 29.4 VDR PTH CASR CALCA
39 calciphylaxis 29.4 VDR PTH CASR
40 hypophosphatemic rickets with hypercalciuria, hereditary 29.4 SLC34A1 PTH
41 hypervitaminosis d 29.4 VDR PTHLH PTH CYP24A1 CALCA
42 giant cell reparative granuloma 29.3 PTH CALCA
43 hypophosphatemic rickets, autosomal dominant 29.2 SLC34A1 PTH CYP24A1
44 multiple endocrine neoplasia, type iia 29.1 PTH CASR CALCA
45 malignant ovarian brenner tumor 29.0 PTHLH PTH CALCA
46 secondary hyperparathyroidism 29.0 VDR PTH1R PTH CYP24A1 CASR CALCA
47 bone disease 28.9 VDR PTHLH PTH1R PTH CASR CALCA
48 glucocorticoid-induced osteoporosis 28.9 VDR PTH CALCA
49 hypoparathyroidism 28.9 VDR PTHLH PTH1R PTH CASR CALCA
50 bone cancer 28.9 VDR PTH CALCA

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



Diseases related to Hypercalcemia, Infantile, 1
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Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

About this section

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 thick lower lip vermilion 31 HP:0000179
7 abnormality of the eye 31 HP:0000478
8 nephrocalcinosis 31 HP:0000121
9 hypercalciuria 31 HP:0002150
10 pulmonic stenosis 31 HP:0001642
11 elfin facies 31 HP:0004428
12 weight loss 31 HP:0001824
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®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting

Growth Weight:
weight loss

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
dehydration
hypercalciuria
hypercalcemia

Genitourinary Kidneys:
nephrocalcinosis
polyuria
nephrolithiasis (in some patients)

Neurologic Central Nervous System:
lethargy

Metabolic Features:
suppression of intact parathyroid hormone levels

Clinical features from OMIM®:

143880 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CASR CYP24A1 PTH PTH1R PTHLH SLC34A1
2 craniofacial MP:0005382 9.65 CASR PTH PTH1R PTHLH VDR
3 renal/urinary system MP:0005367 9.35 CASR CYP24A1 PTHLH SLC34A1 VDR
4 skeleton MP:0005390 9.17 CASR CYP24A1 PTH PTH1R PTHLH SLC34A1
Sources

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinacalcet Approved Phase 4 226256-56-0 156419
2
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
3
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
6
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
7 Calciferol Phase 4
8 1 alpha-hydroxyergocalciferol Phase 4
9 Hydroxycholecalciferols Phase 4
10 Vitamin D2 Phase 4
11 Ergocalciferols Phase 4
12 Vasodilator Agents Phase 4
13 Katacalcin Phase 4
14 calcitonin Phase 4
15 Calcium, Dietary Phase 4
16 Nutrients Phase 4
17 Micronutrients Phase 4
18 Vitamins Phase 4
19 Trace Elements Phase 4
20 Vasoconstrictor Agents Phase 4
21
Calcium Nutraceutical Phase 4 7440-70-2 271
22
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
23
Memantine Approved, Investigational Phase 3 19982-08-2 4054
24 Melanocyte-Stimulating Hormones Phase 2, Phase 3
25 Adrenocorticotropic Hormone Phase 2, Phase 3
26 Endorphins Phase 2, Phase 3
27 beta-Endorphin Phase 2, Phase 3
28 Neurotransmitter Agents Phase 3
29 Pharmaceutical Solutions Phase 3
30 Excitatory Amino Acid Antagonists Phase 3
31 Dopamine Agents Phase 3
32 Antiparkinson Agents Phase 3
33
Calcium carbonate Approved, Investigational Phase 2 471-34-1
34
Rifampicin Approved Phase 2 13292-46-1 5381226 5458213
35
Denosumab Approved Phase 2 615258-40-7
36
tannic acid Approved Phase 2 1401-55-4
37
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
38
Lenvatinib Approved, Investigational Phase 2 417716-92-8
39 Diphosphonates Phase 2
40 Hepcidins Phase 2
41 Immunoglobulins Phase 1, Phase 2
42 Antibodies Phase 1, Phase 2
43 Immunologic Factors Phase 1, Phase 2
44 Antibodies, Monoclonal Phase 1, Phase 2
45 Dialysis Solutions Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Anti-Bacterial Agents Phase 2
48 Antitubercular Agents Phase 2
49 Anti-Infective Agents Phase 2
50 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
2 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
3 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
4 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
5 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)
6 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
7 Pilot Trial About the Effects of Calcitriol's Treatment in the Neurological Function and Frataxin's Level in Friedreich's Ataxia Patients Not yet recruiting NCT04801303 Phase 4 Calcitriol
8 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
9 The Effects of Alendronate After Cure of Primary Hyperparathyroidism Withdrawn NCT00359385 Phase 4 Alendronate 70mg weekly
10 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
11 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
12 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
13 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
14 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
15 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
16 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
17 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
18 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
19 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
20 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
21 A Phase III Randomized, Multicenter Non-Inferiority Trial Evaluating the Efficacy of Oral Ibandronate Versus Intravenous Zoledronate in the Reduction of Skeletal-Related Events in Patients With Metastatic Breast Cancer Withdrawn NCT00301886 Phase 3 ibandronate;zoledronate
22 Early Effect of Vitamin D in Primary Hyperparathyroidism Withdrawn NCT01329666 Phase 2, Phase 3
23 A Single-arm, Multicenter, Proof-of-concept Study of Denosumab in the Treatment of Hypercalcemia of Malignancy in Subjects With Elevated Serum Calcium Despite Recent Treatment With IV Bisphosphonates Completed NCT00896454 Phase 2 denosumab
24 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 Phase 2
25 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
26 A Phase I-II, 24-Week, Multi-Center, Double-Blind, Randomized, Dose-Ranging Study To Evaluate The Safety And Efficacy Of A Humanized Monoclonal Antibody To PTHrP Versus Zoledronic Acid In Patients With Breast Cancer Metastatic To Bone Completed NCT00060138 Phase 1, Phase 2 zoledronic acid
27 Study of 1.25 mmol/L Calcium Dialysate on Mineral Metabolism in Haemodialysis Patients. Completed NCT00744302 Phase 2 physiological (1.25 mmol/L ) calcium dialysate
28 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
29 A Prospective, Multicentre Phase II Study of the Efficacy of Lenvatinib Combined With Denosumab in the Treatment of Patients With Predominant Bone Metastatic Radioiodine Refractory Differentiated Thyroid Carcinomas (LENVOS) Recruiting NCT03732495 Phase 2 Lenvatinib + Denosumab
30 A Phase I/II, Single Arm, Open Label, Multi-center Clinical Trial to Assess the Efficacy and Safety of JMT103 in Patients With Refractory Hypercalcemia of Malignancy Not yet recruiting NCT04198480 Phase 1, Phase 2 JMT103
31 A Phase Ib/II, Multicenter, Single-Arm, Open-Label Study to Evaluate the Efficacy and Safety of JMT103 in Surgically Unsalvageable or Refractory Giant Cell Tumor of Bone Not yet recruiting NCT04255576 Phase 1, Phase 2
32 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Unknown status NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
33 A Prospective, Multicenter, Randomized, Placebo-Controlled, Two-armed, Double-blind Pilot Study to Evaluate the Safety, Tolerability and Efficacy of ACC vs. Placebo for the Treatment of Subjects With Castrate Resistant Prostate Cancer With Bone Metastasis Unknown status NCT02864784 Phase 1 Amorphous calcium carbonate
34 Comparison of Skeletal and Mineral Metabolism Responses in Healthy African-Americans and Caucasians Using a Continuous Seven-Day Parathyroid Hormone (PTH) or Parathyroid Hormone-related Protein (PTHrP) Infusion Withdrawn NCT01333267 Phase 1 Parathyroid Hormone-related Protein (1-36);parathyroid hormone (1-34);PTH (1-34) and PTHrP (1-36)
35 A Novel Approach to Ultrafast Parathyroid SPECT Imaging Using a Solid State CZT SPECT Camera Unknown status NCT01226810
36 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Unknown status NCT02908542
37 Cost-Effective Use of Bisphosphonates in Metastatic Bone Disease - A Comparison of Bone Marker Directed Zoledronic Acid Therapy to a Standard Schedule Unknown status NCT00458796 zoledronic acid
38 Ultrasound Guided Fine Needle Aspiration of Parathyroid Gland as a Pre Operative Localization Tool to Identify Pathological Parathyroid Unknown status NCT03516747
39 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
40 Myocardial Lipid and Glycogen Metabolism & Cardiac Function in Patients With Impaired Glucose Tolerance or Type 2 Diabetes Mellitus and Calcium Sensing Receptor Mutations - A Cross Sectional Magnetic Resonance Spectroscopy and Imaging Study Unknown status NCT02023489
41 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
42 Vitamin D Status in Pregnant Women With Preeclampsia Unknown status NCT01648842
43 Determination of RDA for Vitamin D in Caucasian and African American Women Completed NCT00472823
44 Zoledronic Acid (Zometa) for the Management of Tumor-induced Hypercalcemia (TIH) and Malignant Bone Pain (MBP) in the Community: A Feasibility Study Completed NCT00126386 Zoledronic acid (Zometa)
45 Arterial Stiffness and Decreased Bone Buffering Capacity in Hemodialysis Patients Completed NCT00485706
46 Dissimilar PTH, Gastrin, and Ionized Calcium Response to Oral Peptones in Normocalcemic Primary Hyperparathyroidism, Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626
47 Determining the Maximal Safe Dose of a Continuous Infusion of Parathyroid Hormone-related Protein(1-36): Effects on Bone Formation Completed NCT00580788 Early Phase 1 PTHrP (1-36)
48 Hypercalcemia After Paraffin Oil Injection: Aetiology, Pathogenesis and Possible Treatment Options Recruiting NCT04292288
49 Hypercalcemia After Cosmetic Paraffin Oil Injections: Unravelling Etiology, Pathogenesis and Potential Treatments Recruiting NCT04265599
50 Rate of Termination of Commercial Premixed Parenteral Nutrition (PN) in Surgical Patients Secondary to High Serum Electrolyte Levels Recruiting NCT04256369

Search NIH Clinical Center for Hypercalcemia, Infantile, 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Sources

Genetic Tests for Hypercalcemia, Infantile, 1

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Genetic tests related to Hypercalcemia, Infantile, 1:

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

Anatomical Context for Hypercalcemia, Infantile, 1

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

40
Bone, Prostate, Kidney, Thyroid, Liver, Lung, Breast
Sources

Publications for Hypercalcemia, Infantile, 1

About this section

Articles related to Hypercalcemia, Infantile, 1:

(show top 50) (show all 498)
# Title Authors PMID Year
1
CYP24A1 mutations in idiopathic infantile hypercalcemia. 57 6
22047572 2011
2
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 6 57
21675912 2011
3
[Hypercalcemia following prophylactic vitamin D administration]. 6 57
3490596 1986
4
Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. 6
28109821 2017
5
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. 6
26787776 2016
6
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. 6
27394135 2016
7
Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. 6
26117226 2015
8
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. 6
26214117 2015
9
Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. 6
26097993 2015
10
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. 6
25446019 2015
11
Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. 6
25194629 2015
12
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. 6
26304832 2015
13
CYP24A1 mutation leading to nephrocalcinosis. 6
24875559 2014
14
A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. 6
24518185 2014
15
A lifetime of hypercalcemia and hypercalciuria, finally explained. 6
24423361 2014
16
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. 6
23470222 2013
17
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. 6
23293122 2013
18
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. 6
23485543 2013
19
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. 6
23001465 2013
20
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. 6
22112808 2012
21
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6
22047571 2011
22
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? 57
459990 1979
23
Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 57
1150292 1975
24
Metabolic studies in a patient with idiopathic hypercalcemia of infancy. 57
14031980 1963
25
Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis. 57
13715699 1961
26
Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. 57
13674824 1959
27
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia. 61
30633617 2019
28
A patient with severe hypercalcemia in multiple organ dysfunction syndrome: role of elevated circulating 1alpha,25(OH)2 vitamin D levels. 54
20200933 2010
29
Hypercalcaemia and acute renal failure after major burns: An under-diagnosed condition. 54
19819638 2010
30
Over-expression of CCL3 MIP-1alpha in a blastoid mantle cell lymphoma with hypercalcemia. 54
20050882 2010
31
Characterization and management of hypercalcemia following transplantation for osteopetrosis. 54
19802031 2010
32
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 54
20164288 2010
33
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 54
19953642 2010
34
Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia? 54
20389108 2010
35
Mapping of human autoantibody binding sites on the calcium-sensing receptor. 54
19580466 2010
36
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
37
Calculated serum calcium is an insufficient surrogate for measured ionized calcium. 54
19135731 2009
38
Vitamin D and cancer mini-symposium: the risk of additional vitamin D. 54
19364661 2009
39
Emerging topics in pediatric bone and mineral disorders 2008. 54
19615558 2009
40
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 54
19389809 2009
41
Hypercalcemia and overexpression of CYP27B1 in a patient with nephrogenic systemic fibrosis: clinical vignette and literature review. 54
19113910 2009
42
Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor. 54
19694204 2009
43
The impact of the assay for measuring albumin on corrected ('adjusted') calcium concentrations. 54
19182240 2009
44
Rapid calcitonin response to experimental hypercalcemia in healthy horses. 54
19135828 2009
45
Roles of calcium-sensing receptor (CaSR) in renal mineral ion transport. 54
19355940 2009
46
The clinical utility of parathyroid hormone-related peptide in the assessment of hypercalcemia. 54
19168044 2009
47
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. 54
19423460 2009
48
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 54
19179454 2009
49
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
50
Involvement of molecular mimicry between human T-cell leukemia virus type 1 gp46 and osteoprotegerin in induction of hypercalcemia. 54
19134004 2009
Sources

Variations for Hypercalcemia, Infantile, 1

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ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP24A1 NM_000782.5(CYP24A1):c.1424_1425CT[1] (p.Cys477fs) Microsatellite Pathogenic 29675 rs876657376 GRCh37: 20:52773934-52773935
GRCh38: 20:54157395-54157396
2 CYP24A1 NM_000782.5(CYP24A1):c.425_427AAG[1] (p.Glu143del) Microsatellite Pathogenic 29677 rs777676129 GRCh37: 20:52789467-52789469
GRCh38: 20:54172928-54172930
3 CYP24A1 NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) SNV Pathogenic 29679 rs114368325 GRCh37: 20:52774675-52774675
GRCh38: 20:54158136-54158136
4 CYP24A1 NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) SNV Pathogenic 29676 rs387907322 GRCh37: 20:52788183-52788183
GRCh38: 20:54171644-54171644
5 CYP24A1 NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) SNV Pathogenic 29678 rs387907323 GRCh37: 20:52788208-52788208
GRCh38: 20:54171669-54171669
6 CYP24A1 NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) SNV Pathogenic 29681 rs387907324 GRCh37: 20:52779282-52779282
GRCh38: 20:54162743-54162743
7 CYP24A1 NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) SNV Pathogenic 631878 rs139763321 GRCh37: 20:52789454-52789454
GRCh38: 20:54172915-54172915
8 CYP24A1 NM_000782.5(CYP24A1):c.733-1G>A SNV Pathogenic 1030891 GRCh37: 20:52781103-52781103
GRCh38: 20:54164564-54164564
9 CYP24A1 NM_000782.5(CYP24A1):c.1540C>T (p.Arg514Ter) SNV Pathogenic 1033127 GRCh37: 20:52773723-52773723
GRCh38: 20:54157184-54157184
10 CYP24A1 NM_000782.5(CYP24A1):c.487C>T (p.Gln163Ter) SNV Pathogenic 1033129 GRCh37: 20:52788172-52788172
GRCh38: 20:54171633-54171633
11 CYP24A1 NM_000782.5(CYP24A1):c.999_1006del (p.Ser334fs) Deletion Pathogenic 1034294 GRCh37: 20:52775647-52775654
GRCh38: 20:54159108-54159115
12 CYP24A1 NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) SNV Likely pathogenic 953906 GRCh37: 20:52774674-52774674
GRCh38: 20:54158135-54158135
13 CYP24A1 NM_000782.5(CYP24A1):c.62del (p.Pro21fs) Deletion Likely pathogenic 632376 rs774432244 GRCh37: 20:52790057-52790057
GRCh38: 20:54173518-54173518
14 CYP24A1 NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile) SNV Likely pathogenic 694500 rs781367354 GRCh37: 20:52790116-52790116
GRCh38: 20:54173577-54173577
15 CASR NM_000388.4(CASR):c.2449G>A (p.Val817Ile) SNV Likely pathogenic 374153 rs1057518933 GRCh37: 3:122003250-122003250
GRCh38: 3:122284403-122284403
16 SLC34A1 NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) SNV Likely pathogenic 929955 GRCh37: 5:176815095-176815095
GRCh38: 5:177388094-177388094
17 CYP24A1 NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) SNV Likely pathogenic 208571 rs777947329 GRCh37: 20:52775614-52775614
GRCh38: 20:54159075-54159075
18 CYP24A1 NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) SNV Conflicting interpretations of pathogenicity 29680 rs6068812 GRCh37: 20:52774635-52774635
GRCh38: 20:54158096-54158096
19 CYP24A1 NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) SNV Uncertain significance 338824 rs373902459 GRCh37: 20:52781059-52781059
GRCh38: 20:54164520-54164520
20 CYP24A1 NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met) SNV Uncertain significance 728557 rs149806586 GRCh37: 20:52789512-52789512
GRCh38: 20:54172973-54172973
21 CYP24A1 NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) SNV Uncertain significance 931571 GRCh37: 20:52774046-52774046
GRCh38: 20:54157507-54157507
22 CYP24A1 NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr) SNV Uncertain significance 1028372 GRCh37: 20:52781002-52781002
GRCh38: 20:54164463-54164463
23 CYP24A1 NM_000782.5(CYP24A1):c.*217A>G SNV Uncertain significance 898528 GRCh37: 20:52771094-52771094
GRCh38: 20:54154555-54154555
24 CYP24A1 NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile) SNV Uncertain significance 898600 GRCh37: 20:52781100-52781100
GRCh38: 20:54164561-54164561
25 CYP24A1 NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr) SNV Uncertain significance 895538 GRCh37: 20:52773735-52773735
GRCh38: 20:54157196-54157196
26 CYP24A1 NM_000782.5(CYP24A1):c.1518A>T (p.Glu506Asp) SNV Uncertain significance 895539 GRCh37: 20:52773745-52773745
GRCh38: 20:54157206-54157206
27 CYP24A1 NM_000782.5(CYP24A1):c.1513C>G (p.Arg505Gly) SNV Uncertain significance 895540 GRCh37: 20:52773750-52773750
GRCh38: 20:54157211-54157211
28 CYP24A1 NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala) SNV Uncertain significance 895613 GRCh37: 20:52788186-52788186
GRCh38: 20:54171647-54171647
29 CYP24A1 NM_000782.5(CYP24A1):c.*549A>T SNV Uncertain significance 897371 GRCh37: 20:52770762-52770762
GRCh38: 20:54154223-54154223
30 CYP24A1 NM_000782.5(CYP24A1):c.*525C>T SNV Uncertain significance 897372 GRCh37: 20:52770786-52770786
GRCh38: 20:54154247-54154247
31 CYP24A1 NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=) SNV Uncertain significance 897433 GRCh37: 20:52774697-52774697
GRCh38: 20:54158158-54158158
32 CYP24A1 NM_000782.5(CYP24A1):c.449+2dup Duplication Uncertain significance 1033128 GRCh37: 20:52789445-52789446
GRCh38: 20:54172906-54172907
33 CYP24A1 NM_000782.5(CYP24A1):c.-112T>C SNV Uncertain significance 898655 GRCh37: 20:52790230-52790230
GRCh38: 20:54173691-54173691
34 CYP24A1 NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu) SNV Uncertain significance 338832 rs114476330 GRCh37: 20:52789538-52789538
GRCh38: 20:54172999-54172999
35 CYP24A1 NM_000782.5(CYP24A1):c.259-5T>C SNV Uncertain significance 338834 rs372360343 GRCh37: 20:52789643-52789643
GRCh38: 20:54173104-54173104
36 CYP24A1 NM_000782.5(CYP24A1):c.*51G>A SNV Uncertain significance 338809 rs552552032 GRCh37: 20:52771260-52771260
GRCh38: 20:54154721-54154721
37 CYP24A1 NM_000782.5(CYP24A1):c.*1014C>T SNV Uncertain significance 338792 rs886056781 GRCh37: 20:52770297-52770297
GRCh38: 20:54153758-54153758
38 CYP24A1 NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=) SNV Uncertain significance 338812 rs73135773 GRCh37: 20:52773814-52773814
GRCh38: 20:54157275-54157275
39 CYP24A1 NM_000782.5(CYP24A1):c.*838T>G SNV Uncertain significance 338795 rs886056782 GRCh37: 20:52770473-52770473
GRCh38: 20:54153934-54153934
40 CYP24A1 NM_000782.5(CYP24A1):c.*454G>A SNV Uncertain significance 338801 rs761330571 GRCh37: 20:52770857-52770857
GRCh38: 20:54154318-54154318
41 CYP24A1 NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=) SNV Uncertain significance 338818 rs764982769 GRCh37: 20:52775555-52775555
GRCh38: 20:54159016-54159016
42 CYP24A1 NM_000782.5(CYP24A1):c.-17C>T SNV Uncertain significance 338840 rs886056790 GRCh37: 20:52790135-52790135
GRCh38: 20:54173596-54173596
43 CYP24A1 NM_000782.5(CYP24A1):c.-135C>T SNV Uncertain significance 338846 rs556468258 GRCh37: 20:52790253-52790253
GRCh38: 20:54173714-54173714
44 CYP24A1 NM_000782.5(CYP24A1):c.*317T>C SNV Uncertain significance 338804 rs181138149 GRCh37: 20:52770994-52770994
GRCh38: 20:54154455-54154455
45 CYP24A1 NM_000782.5(CYP24A1):c.-307G>T SNV Uncertain significance 338849 rs562743240 GRCh37: 20:52790425-52790425
GRCh38: 20:54173886-54173886
46 CYP24A1 NM_000782.5(CYP24A1):c.*80A>G SNV Uncertain significance 338807 rs560443324 GRCh37: 20:52771231-52771231
GRCh38: 20:54154692-54154692
47 CYP24A1 NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu) SNV Uncertain significance 338827 rs552660376 GRCh37: 20:52782318-52782318
GRCh38: 20:54165779-54165779
48 CYP24A1 NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu) SNV Uncertain significance 338816 rs189801930 GRCh37: 20:52775529-52775529
GRCh38: 20:54158990-54158990
49 CYP24A1 NM_000782.5(CYP24A1):c.*1095C>G SNV Uncertain significance 338790 rs886056780 GRCh37: 20:52770216-52770216
GRCh38: 20:54153677-54153677
50 CYP24A1 NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) SNV Uncertain significance 338838 rs550482750 GRCh37: 20:52790018-52790018
GRCh38: 20:54173479-54173479

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

72
# 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

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Expression for Hypercalcemia, Infantile, 1

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

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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 12)
# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 65
Show member pathways
 13.18 PTHLH PTH1R PTH CASR CALCA
2
Presynaptic function of Kainate receptors 65
Show member pathways
 12.1 PTHLH PTH1R PTH CALCA
3
G alpha (s) signalling events 65
11.79 PTHLH PTH1R PTH CALCA
4
Endochondral Ossification 1
11.42 PTHLH PTH1R PTH
5
Mineral absorption 36
11.28 VDR SLC34A1
6
Endocrine and other factor-regulated calcium reabsorption 36
11.27 VDR PTH1R PTH
7
Parathyroid hormone synthesis, secretion and action 36
11.19 VDR SLC34A1 PTHLH PTH1R PTH CYP24A1
8
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.05 VDR PTHLH PTH1R PTH
9
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.02 VDR CYP24A1
10
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.01 VDR PTH1R PTH CYP24A1 CALCA
11
Osteoblast Signaling 1
10.6 PTH1R PTH
12
Vitamin D Metabolism 1
10.43 VDR PTH CYP24A1
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GO Terms for Hypercalcemia, Infantile, 1

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

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 8.96 SLC34A1 PTH1R
2 apical plasma membrane GO:0016324 8.8 SLC34A1 PTH1R CASR

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.91 PTHLH PTH1R PTH CASR CALCA
2 cell-cell signaling GO:0007267 9.77 PTHLH PTH CALCA
3 ossification GO:0001503 9.65 SLC34A1 PTH1R CASR
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.61 PTH1R CASR
5 bone mineralization GO:0030282 9.6 PTHLH PTH1R
6 response to cadmium ion GO:0046686 9.58 SLC34A1 PTH
7 vasodilation GO:0042311 9.58 CASR CALCA
8 bone resorption GO:0045453 9.57 PTH1R PTH
9 response to lead ion GO:0010288 9.56 SLC34A1 PTH
10 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTHLH PTH
11 response to vitamin D GO:0033280 9.54 PTH CYP24A1
12 osteoblast development GO:0002076 9.52 PTHLH PTH1R
13 vitamin D metabolic process GO:0042359 9.49 VDR CYP24A1
14 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.46 PTH1R PTH
15 skeletal system development GO:0001501 9.46 VDR PTHLH PTH1R PTH
16 response to fibroblast growth factor GO:0071774 9.43 PTH CASR
17 phosphate ion homeostasis GO:0055062 9.4 SLC34A1 PTH
18 response to parathyroid hormone GO:0071107 9.37 SLC34A1 PTH
19 vitamin D receptor signaling pathway GO:0070561 9.32 VDR CYP24A1
20 cAMP metabolic process GO:0046058 9.26 PTHLH PTH
21 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.26 PTHLH PTH1R PTH CALCA
22 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

Sources for Hypercalcemia, Infantile, 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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