HCINF1
MCID: HYP726
MIFTS: 56

Hypercalcemia, Infantile, 1 (HCINF1)

Categories: Blood diseases, Genetic diseases, Nephrological diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hypercalcemia, Infantile, 1

MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Name: Hypercalcemia, Infantile, 1 57 73 28 5
Infantile Hypercalcemia 5 75
Hcinf1 57 73
Hypercalcemia, Idiopathic, of Infancy 57
Idiopathic Hypercalcemia of Infancy 73
Hypercalcemia, Infantile, Type 1 38
Hypercalcemia, Infantile 5
Hypercalcemia Infantile 73
Hypercalcemia 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
some patients may not present until adulthood


Classifications:



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) (Updated 08-Dec-2022)

MalaCards based summary: Hypercalcemia, Infantile, 1, also known as infantile hypercalcemia, is related to idiopathic infantile hypercalcemia and nephrocalcinosis. 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 GPCR downstream signalling and Class A/1 (Rhodopsin-like receptors). The drugs Salmon calcitonin and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and kidney, and related phenotypes are nephrolithiasis and intellectual disability

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

Wikipedia: 75 Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features... more...

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 160)
# Related Disease Score Top Affiliating Genes
1 idiopathic infantile hypercalcemia 33.1 SLC34A1 CYP24A1
2 nephrocalcinosis 30.7 SLC34A1 CYP24A1 CASR
3 nephrolithiasis, calcium oxalate 30.3 VDR SLC34A1 CASR
4 hypercalciuria, absorptive, 2 29.8 VDR CASR
5 williams-beuren syndrome 29.7 VDR SLC34A1 CYP24A1 CALCA
6 graves disease 1 29.6 PTH CALCA
7 nephrolithiasis 29.5 VDR SLC34A1 PTH CYP24A1 CASR
8 rickets 29.1 VDR SLC34A1 PTH CYP24A1 CASR CALCA
9 familial hypocalciuric hypercalcemia 29.1 PTHLH PTH CASR CALCA
10 hypophosphatemia 29.0 VDR SLC34A1 PTHLH PTH1R PTH
11 chronic kidney disease 28.3 VDR PTH1R PTH CASR CALCA
12 hyperparathyroidism 28.0 VDR PTHLH PTH1R PTH CASR CALCA
13 renal tubular acidosis 11.1
14 hypercalcemia, infantile, 2 11.0
15 dental abscess 10.0 SLC34A1 PTH
16 childhood ovarian dysgerminoma 10.0 PTHLH PTH
17 childhood ovarian germ cell tumor 10.0 PTHLH PTH
18 dysgerminoma of ovary 10.0 PTHLH PTH
19 ovarian small cell carcinoma 10.0 PTHLH PTH
20 invasive malignant thymoma 10.0 PTHLH PTH
21 hypophosphatemic rickets, autosomal dominant 10.0 PTH CYP24A1
22 sclerosing hepatic carcinoma 10.0 PTHLH PTH
23 coarctation of aorta 10.0
24 3-methylglutaconic aciduria, type iii 10.0
25 tumoral calcinosis, hyperphosphatemic, familial, 1 10.0 PTH CYP24A1
26 pseudopseudohypoparathyroidism 10.0 PTHLH PTH
27 hypocalciuric hypercalcemia, familial, type i 10.0 PTH CASR
28 hypocalciuric hypercalcemia, familial, type ii 10.0 PTH CASR
29 hypoparathyroidism-deafness-renal disease syndrome 10.0 PTH CASR
30 tetanic cataract 10.0 PTH CALCA
31 familial isolated hypoparathyroidism 10.0 PTH CASR
32 hypocalciuric hypercalcemia, familial, type iii 10.0 PTH CASR
33 substernal goiter 10.0 PTH CALCA
34 kenny-caffey syndrome 10.0 PTH CASR
35 kohler's disease 10.0 PTH CALCA
36 islet cell tumor 10.0 PTHLH CALCA
37 isthmus cancer 10.0 PTH CALCA
38 gorham's disease 10.0 PTH CALCA
39 hypoparathyroidism-retardation-dysmorphism syndrome 10.0 PTH CASR
40 vitamin d hydroxylation-deficient rickets, type 1a 10.0 VDR PTH
41 fibrous dysplasia 10.0 PTHLH CALCA
42 endemic goiter 10.0 PTH CALCA
43 supravalvular aortic stenosis 10.0
44 aortic valve disease 2 10.0
45 functional neutrophil defect 10.0
46 plummer's disease 10.0 PTH CALCA
47 osseous heteroplasia, progressive 10.0 PTHLH PTH
48 nontoxic goiter 10.0 PTH CALCA
49 basal ganglia disease 10.0 PTH CASR
50 bursitis 10.0 PTH 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:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 30 Occasional (7.5%) HP:0000787
2 intellectual disability 30 HP:0001249
3 failure to thrive 30 HP:0001508
4 dehydration 30 HP:0001944
5 vomiting 30 HP:0002013
6 thick lower lip vermilion 30 HP:0000179
7 abnormality of the eye 30 HP:0000478
8 nephrocalcinosis 30 HP:0000121
9 hypercalciuria 30 HP:0002150
10 pulmonic stenosis 30 HP:0001642
11 elfin facies 30 HP:0004428
12 weight loss 30 HP:0001824
13 lethargy 30 HP:0001254
14 aortic valve stenosis 30 HP:0001650
15 generalized hypotonia 30 HP:0001290
16 infantile hypercalcemia 30 HP:0008250
17 polyuria 30 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Laboratory Abnormalities:
dehydration
hypercalciuria
hypercalcemia

Genitourinary Kidneys:
nephrocalcinosis
polyuria
nephrolithiasis (in some patients)

Neurologic Central Nervous System:
lethargy

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
vomiting

Growth Weight:
weight loss

Metabolic Features:
suppression of intact parathyroid hormone levels

Clinical features from OMIM®:

143880 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 CALCA CASR CYP24A1 PTH PTH1R PTHLH
2 renal/urinary system MP:0005367 9.8 CALCA CASR CYP24A1 PTHLH SLC34A1 VDR
3 growth/size/body region MP:0005378 9.7 CASR CYP24A1 PTH PTH1R PTHLH SLC34A1
4 skeleton MP:0005390 9.56 CALCA CASR CYP24A1 PTH PTH1R PTHLH
5 mortality/aging MP:0010768 9.23 CALCA CASR CYP24A1 PTH PTH1R PTHLH

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 155817456
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
4
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2 91976570
5
Calcitonin Phase 4
6 Vasodilator Agents Phase 4
7 Katacalcin Phase 4 16172926
8
Vitamin D2 Phase 4 3249
9 Ergocalciferols Phase 4
10 Trace Elements Phase 4
11 Vasoconstrictor Agents Phase 4
12 Micronutrients Phase 4
13
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
14
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
15
Cinacalcet Approved Phase 3 226256-56-0 156419
16 Melanocyte-Stimulating Hormones Phase 2, Phase 3
17 Adrenocorticotropic Hormone Phase 2, Phase 3
18
beta-Endorphin Phase 2, Phase 3
19 Neurotransmitter Agents Phase 2, Phase 3
20 Endorphins Phase 2, Phase 3
21
Denosumab Approved Phase 2 615258-40-7
22
Calcium carbonate Approved, Investigational Phase 2 471-34-1
23
Rifampicin Approved Phase 2 13292-46-1 135512673 5381226 135900090
24 Pharmaceutical Solutions Phase 2
25 Dialysis Solutions Phase 2
26 Immunoglobulins Phase 1, Phase 2
27 Antibodies, Monoclonal Phase 1, Phase 2
28 Antibodies Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2
30 Dihydroxyphenylalanine Phase 2
31 Antibiotics, Antitubercular Phase 2
32 Anti-Bacterial Agents Phase 2
33 Anti-Infective Agents Phase 2
34 Antitubercular Agents Phase 2
35
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605 16129706
36
Mineral oil Approved, Vet_approved 8042-47-5
37
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8 5280382 445354
38 Liver Extracts
39 Gastrins
40 Dermatologic Agents
41 Retinol palmitate
42 Diphosphonates

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Unknown status NCT03935984 Phase 4 Calcitonin
2 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
3 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)
4 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
5 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
6 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
7 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
8 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
9 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
10 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
11 Effect of Vitamin D Treatment in Primary Hyperparathyroidism Completed NCT00674154 Phase 2, Phase 3 Cholecalciferol
12 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
13 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
14 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
15 Early Effect of Vitamin D in Primary Hyperparathyroidism Withdrawn NCT01329666 Phase 2, Phase 3
16 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 Unknown status NCT04198480 Phase 1, Phase 2 JMT103
17 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
18 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
19 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
20 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 Phase 2 68Ga-Dotatate;18F-DOPA
21 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
22 Cinacalcet for Treatment of Persistent Secondary Hyperparathyroidism in Renal Transplant Recipients: Effect on Renal Function, Serum Calcium and Bone Histomorphometry Terminated NCT00415584 Phase 1, Phase 2 Cinacalcet HCl
23 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
24 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)
25 Hypercalcemia After Paraffin Oil Injection: Aetiology, Pathogenesis and Possible Treatment Options Unknown status NCT04292288
26 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
27 Identification of Differentially Expressed Proteins in Parathyroid Tumors and Their Clinical Correlation With the Disease Unknown status NCT01647503
28 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
29 A Novel Approach to Ultrafast Parathyroid SPECT Imaging Using a Solid State CZT SPECT Camera Unknown status NCT01226810
30 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)
31 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Completed NCT02908542
32 Arterial Stiffness and Decreased Bone Buffering Capacity in Hemodialysis Patients Completed NCT00485706
33 Rate of Termination of Commercial Premixed Parenteral Nutrition (PN) in Surgical Patients Secondary to High Serum Electrolyte Levels Completed NCT04256369
34 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)
35 Dissimilar PTH, Gastrin, and Ionized Calcium Response to Oral Peptones in Normocalcemic Primary Hyperparathyroidism, Hypercalcemic Primary Hyperparathyroidism and Healthy Subjects Completed NCT01042626
36 Vitamin D Status in Pregnant Women With Preeclampsia Completed NCT01648842
37 Hypercalcemia After Cosmetic Paraffin Oil Injections: Unravelling Etiology, Pathogenesis and Potential Treatments Recruiting NCT04265599
38 Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution Recruiting NCT04872894
39 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Recruiting NCT04299425
40 Registry and Biobank for Patients With Hypoparathyroidism Wuerzburg Recruiting NCT05585593
41 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Recruiting NCT05022641
42 Evaluating Impact of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy Active, not recruiting NCT05152927
43 Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency Enrolling by invitation NCT04987073
44 A Prospective, Multicenter Study to Evaluate the Safety of Paricalcitol Capsules as Determined by Hypercalcemia in Pediatric Patients Ages 0 to 16 With Chronic Kidney Disease (CKD) Stage 5 Receiving Peritoneal Dialysis (PD) Within Current Clinical Practice Terminated NCT01134315 Paricalcitol;Calcitriol
45 Cost-Effective Use of Bisphosphonates in Metastatic Bone Disease - A Comparison of Bone Marker Directed Zoledronic Acid Therapy to a Standard Schedule Terminated NCT00458796 zoledronic acid
46 Insulin Resistance in Primary Hyperparathyroidism, a Non-classical Manifestation Withdrawn NCT02711059
47 Ultrasound Guided Fine Needle Aspiration of Parathyroid Gland as a Pre Operative Localization Tool to Identify Pathological Parathyroid Withdrawn NCT03516747

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

Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

# Genetic test Affiliating Genes
1 Hypercalcemia, Infantile, 1 28 CYP24A1

Anatomical Context for Hypercalcemia, Infantile, 1

Organs/tissues related to Hypercalcemia, Infantile, 1:

MalaCards : Heart, Bone, Kidney, Breast, Eye, Prostate, Liver
ODiseA: Kidney

Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

(show top 50) (show all 650)
# Title Authors PMID Year
1
CYP24A1 mutations in idiopathic infantile hypercalcemia. 62 57 5
22047572 2011
2
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 62 57 5
21675912 2011
3
[Hypercalcemia following prophylactic vitamin D administration]. 57 5
3490596 1986
4
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. 62 5
27394135 2016
5
Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. 62 5
26117226 2015
6
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. 62 5
26304832 2015
7
Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. 62 5
25194629 2015
8
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. 62 5
25446019 2015
9
A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. 62 5
24518185 2014
10
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. 62 5
23470222 2013
11
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. 62 5
23485543 2013
12
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. 62 5
23001465 2013
13
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. 62 5
22112808 2012
14
CYP24A1 mutations in idiopathic infantile hypercalcemia. 62 5
22047571 2011
15
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? 62 57
459990 1979
16
Metabolic studies in a patient with idiopathic hypercalcemia of infancy. 62 57
14031980 1963
17
Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. 5
28109821 2017
18
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. 5
26787776 2016
19
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. 5
26214117 2015
20
Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. 5
26097993 2015
21
CYP24A1 mutation leading to nephrocalcinosis. 5
24875559 2014
22
A lifetime of hypercalcemia and hypercalciuria, finally explained. 5
24423361 2014
23
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. 5
23293122 2013
24
Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 57
1150292 1975
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
Idiopathic infantile hypercalcemia and renal involvement. 53 62
17978858 2008
28
TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. 53 62
14751286 2004
29
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. 53 62
8812460 1996
30
Idiopathic infantile hypercalcemia discovered in the newborn period. 53 62
7871992 1994
31
Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin. 53 62
1606583 1992
32
Characterization of the calcitonin/CGRP gene in Williams syndrome. 53 62
1867260 1991
33
Williams (Elfin Facies) syndrome: review of the literature and report of a rare case. 53 62
2033166 1991
34
Williams syndrome: an historical perspective of its evolution, natural history, and etiology. 53 62
2118785 1990
35
Rare cause of life-threatening hypercalcemia in an infant: a case report. 62
36453734 2022
36
Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia. 62
36156733 2022
37
Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1. 62
35956396 2022
38
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant. 62
35569070 2022
39
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. 62
35414099 2022
40
AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT. 62
35282483 2022
41
Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease. 62
34515170 2022
42
Vitamin D-dependent Hypercalcemia. 62
34774244 2021
43
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review. 62
34735369 2021
44
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings. 62
34125233 2021
45
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study. 62
34139759 2021
46
Williams Syndrome With Rare Ureteric Abnormality. 62
34540437 2021
47
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management. 62
34217267 2021
48
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20. 62
33952337 2021
49
Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH). 62
33864587 2021
50
Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. 62
33516786 2021

Variations for Hypercalcemia, Infantile, 1

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

5 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP24A1 NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs) MICROSAT Pathogenic
29675 rs876657376 GRCh37: 20:52773934-52773935
GRCh38: 20:54157395-54157396
2 CYP24A1 NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) SNV Pathogenic
29676 rs387907322 GRCh37: 20:52788183-52788183
GRCh38: 20:54171644-54171644
3 CYP24A1 NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) SNV Pathogenic
29678 rs387907323 GRCh37: 20:52788208-52788208
GRCh38: 20:54171669-54171669
4 CYP24A1 NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) SNV Pathogenic
29681 rs387907324 GRCh37: 20:52779282-52779282
GRCh38: 20:54162743-54162743
5 CYP24A1 NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) SNV Pathogenic
631878 rs139763321 GRCh37: 20:52789454-52789454
GRCh38: 20:54172915-54172915
6 CYP24A1 GRCh37/hg19 20q13.2(chr20:52769985-52790525) CN LOSS Pathogenic
1179111 GRCh37: 20:52769985-52790525
GRCh38:
7 CYP24A1 NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) SNV Pathogenic
1072834 GRCh37: 20:52773965-52773965
GRCh38: 20:54157426-54157426
8 CYP24A1 NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) SNV Pathogenic
29679 rs114368325 GRCh37: 20:52774675-52774675
GRCh38: 20:54158136-54158136
9 CYP24A1 NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) MICROSAT Pathogenic
29677 rs777676129 GRCh37: 20:52789467-52789469
GRCh38: 20:54172928-54172930
10 CYP24A1 NM_000782.5(CYP24A1):c.62del (p.Pro21fs) DEL Pathogenic/Likely Pathogenic
632376 rs774432244 GRCh37: 20:52790057-52790057
GRCh38: 20:54173518-54173518
11 CYP24A1 NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) SNV Likely Pathogenic
953906 rs143934667 GRCh37: 20:52774674-52774674
GRCh38: 20:54158135-54158135
12 SLC34A1 NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) SNV Likely Pathogenic
929955 rs1426432774 GRCh37: 5:176815095-176815095
GRCh38: 5:177388094-177388094
13 CYP24A1 NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter) SNV Likely Pathogenic
1324203 GRCh37: 20:52782328-52782328
GRCh38: 20:54165789-54165789
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 CYP24A1 NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) SNV Likely Pathogenic
208571 rs777947329 GRCh37: 20:52775614-52775614
GRCh38: 20:54159075-54159075
16 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
17 CYP24A1 NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile) SNV Uncertain Significance
898600 rs114930663 GRCh37: 20:52781100-52781100
GRCh38: 20:54164561-54164561
18 CYP24A1 NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) SNV Uncertain Significance
931571 rs374292194 GRCh37: 20:52774046-52774046
GRCh38: 20:54157507-54157507
19 CYP24A1 NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) SNV Uncertain Significance
896943 rs140189382 GRCh37: 20:52774642-52774642
GRCh38: 20:54158103-54158103
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.1164G>A (p.Thr388=) SNV Uncertain Significance
897433 rs373504037 GRCh37: 20:52774697-52774697
GRCh38: 20:54158158-54158158
22 CYP24A1 NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala) SNV Uncertain Significance
895613 rs139655790 GRCh37: 20:52788186-52788186
GRCh38: 20:54171647-54171647
23 CYP24A1 NM_000782.5(CYP24A1):c.732+7A>T SNV Uncertain Significance
338826 rs532499456 GRCh37: 20:52782274-52782274
GRCh38: 20:54165735-54165735
24 CYP24A1 NM_000782.5(CYP24A1):c.-112T>C SNV Uncertain Significance
898655 rs2092703674 GRCh37: 20:52790230-52790230
GRCh38: 20:54173691-54173691
25 CYP24A1 NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) SNV Uncertain Significance
285894 rs35873579 GRCh37: 20:52788190-52788190
GRCh38: 20:54171651-54171651
26 CYP24A1 NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr) SNV Uncertain Significance
1028372 rs2092663565 GRCh37: 20:52781002-52781002
GRCh38: 20:54164463-54164463
27 CYP24A1 NM_000782.5(CYP24A1):c.449+2dup DUP Uncertain Significance
1033128 rs2092698761 GRCh37: 20:52789445-52789446
GRCh38: 20:54172906-54172907
28 CYP24A1 NM_000782.5(CYP24A1):c.259-5T>C SNV Uncertain Significance
338834 rs372360343 GRCh37: 20:52789643-52789643
GRCh38: 20:54173104-54173104
29 CYP24A1 NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) SNV Uncertain Significance
338824 rs373902459 GRCh37: 20:52781059-52781059
GRCh38: 20:54164520-54164520
30 CYP24A1 NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu) SNV Uncertain Significance
338827 rs552660376 GRCh37: 20:52782318-52782318
GRCh38: 20:54165779-54165779
31 CYP24A1 NM_000782.5(CYP24A1):c.640+15C>G SNV Uncertain Significance
338828 rs117685582 GRCh37: 20:52786116-52786116
GRCh38: 20:54169577-54169577
32 CYP24A1 NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe) SNV Uncertain Significance
338836 rs201820243 GRCh37: 20:52789902-52789902
GRCh38: 20:54173363-54173363
33 CYP24A1 NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu) SNV Uncertain Significance
338832 rs114476330 GRCh37: 20:52789538-52789538
GRCh38: 20:54172999-54172999
34 CYP24A1 NM_000782.5(CYP24A1):c.*1014C>T SNV Uncertain Significance
338792 rs886056781 GRCh37: 20:52770297-52770297
GRCh38: 20:54153758-54153758
35 CYP24A1 NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=) SNV Uncertain Significance
338812 rs73135773 GRCh37: 20:52773814-52773814
GRCh38: 20:54157275-54157275
36 CYP24A1 NM_000782.5(CYP24A1):c.*838T>G SNV Uncertain Significance
338795 rs886056782 GRCh37: 20:52770473-52770473
GRCh38: 20:54153934-54153934
37 CYP24A1 NM_000782.5(CYP24A1):c.*454G>A SNV Uncertain Significance
338801 rs761330571 GRCh37: 20:52770857-52770857
GRCh38: 20:54154318-54154318
38 CYP24A1 NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=) SNV Uncertain Significance
338818 rs764982769 GRCh37: 20:52775555-52775555
GRCh38: 20:54159016-54159016
39 CYP24A1 NM_000782.5(CYP24A1):c.*702GT[5] MICROSAT Uncertain Significance
338798 rs372687331 GRCh37: 20:52770598-52770599
GRCh38: 20:54154059-54154060
40 CYP24A1 NM_000782.5(CYP24A1):c.-17C>T SNV Uncertain Significance
338840 rs886056790 GRCh37: 20:52790135-52790135
GRCh38: 20:54173596-54173596
41 CYP24A1 NM_000782.5(CYP24A1):c.-135C>T SNV Uncertain Significance
338846 rs556468258 GRCh37: 20:52790253-52790253
GRCh38: 20:54173714-54173714
42 CYP24A1 NM_000782.5(CYP24A1):c.*317T>C SNV Uncertain Significance
338804 rs181138149 GRCh37: 20:52770994-52770994
GRCh38: 20:54154455-54154455
43 CYP24A1 NM_000782.5(CYP24A1):c.*51G>A SNV Uncertain Significance
338809 rs552552032 GRCh37: 20:52771260-52771260
GRCh38: 20:54154721-54154721
44 CYP24A1 NM_000782.5(CYP24A1):c.-307G>T SNV Uncertain Significance
338849 rs562743240 GRCh37: 20:52790425-52790425
GRCh38: 20:54173886-54173886
45 CYP24A1 NM_000782.5(CYP24A1):c.*80A>G SNV Uncertain Significance
338807 rs560443324 GRCh37: 20:52771231-52771231
GRCh38: 20:54154692-54154692
46 CYP24A1 NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) SNV Uncertain Significance
338838 rs550482750 GRCh37: 20:52790018-52790018
GRCh38: 20:54173479-54173479
47 CYP24A1 NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu) SNV Uncertain Significance
338813 rs886056786 GRCh37: 20:52774000-52774000
GRCh38: 20:54157461-54157461
48 CYP24A1 NM_000782.5(CYP24A1):c.*748G>A SNV Uncertain Significance
338796 rs371011704 GRCh37: 20:52770563-52770563
GRCh38: 20:54154024-54154024
49 CYP24A1 NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu) SNV Uncertain Significance
338816 rs189801930 GRCh37: 20:52775529-52775529
GRCh38: 20:54158990-54158990
50 CYP24A1 NM_000782.5(CYP24A1):c.*1095C>G SNV Uncertain Significance
338790 rs886056780 GRCh37: 20:52770216-52770216
GRCh38: 20:54153677-54153677

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 GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 PTHLH PTH1R PTH CASR CALCA
2
Show member pathways
12.98 PTHLH PTH1R PTH CASR CALCA
3
Show member pathways
12.11 CALCA PTH PTH1R PTHLH
4 11.94 VDR PTHLH PTH CYP24A1
5
Show member pathways
11.83 PTHLH PTH1R PTH CALCA
6
Show member pathways
11.71 PTHLH PTH1R PTH
7 11.26 VDR CYP24A1
8 11.07 VDR CYP24A1
9 10.94 PTHLH PTH1R
10 10.85 VDR PTHLH PTH1R PTH
11 10.84 PTH CALCA
12 10.82 VDR CYP24A1
14 10.67 VDR PTH1R PTH CYP24A1 CALCA
15 10.33 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 bone mineralization GO:0030282 9.91 PTH PTH1R PTHLH
2 bone resorption GO:0045453 9.88 PTH1R PTH
3 response to cadmium ion GO:0046686 9.87 SLC34A1 PTH
4 negative regulation of chondrocyte differentiation GO:0032331 9.86 PTHLH PTH
5 skeletal system development GO:0001501 9.86 VDR PTHLH PTH1R PTH
6 response to vitamin D GO:0033280 9.85 PTH CYP24A1
7 osteoblast development GO:0002076 9.84 PTHLH PTH1R
8 response to lead ion GO:0010288 9.83 PTH SLC34A1
9 phosphate ion homeostasis GO:0055062 9.81 SLC34A1 PTH
10 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.78 PTH1R PTH
11 response to fibroblast growth factor GO:0071774 9.76 PTH CASR
12 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.76 CALCA PTH PTH1R PTHLH
13 cellular response to vitamin D GO:0071305 9.67 CYP24A1 CASR
14 cAMP metabolic process GO:0046058 9.67 PTHLH PTH
15 vitamin D receptor signaling pathway GO:0070561 9.62 VDR CYP24A1
16 response to parathyroid hormone GO:0071107 9.58 SLC34A1 PTH
17 ossification GO:0001503 9.5 SLC34A1 PTH1R CASR CALCA
18 cellular calcium ion homeostasis GO:0006874 9.28 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 9.43 PTHLH PTH CALCA
2 peptide hormone receptor binding GO:0051428 8.92 PTHLH PTH

Sources for Hypercalcemia, Infantile, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....