Hypercalcemia, Infantile, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HCINF1 MCID: HYP726 MIFTS: 56	Hypercalcemia, Infantile, 1 (HCINF1) Categories: Blood diseases, Genetic diseases, Nephrological diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

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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...

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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:

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Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

Human phenotypes related to Hypercalcemia, Infantile, 1:

³⁰ (show all 17)

#	Description	HPO 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

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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

Salmon calcitonin

Approved, Investigational

Phase 4

47931-85-1

155817456

Ergocalciferol

Approved, Nutraceutical

Phase 4

50-14-6

5280793

Calcitriol

Approved, Nutraceutical

Phase 4

32222-06-3

5280453

Calcitonin gene-related peptide

Investigational

Phase 4

83652-28-2

91976570

Calcitonin

Phase 4

Vasodilator Agents

Phase 4

Katacalcin

Phase 4

16172926

Vitamin D2

Phase 4

3249

Ergocalciferols

Phase 4

Trace Elements

Phase 4

Vasoconstrictor Agents

Phase 4

Micronutrients

Phase 4

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 3

1401-55-4

16129878 16129778

Cinacalcet

Approved

Phase 3

226256-56-0

156419

Melanocyte-Stimulating Hormones

Phase 2, Phase 3

Adrenocorticotropic Hormone

Phase 2, Phase 3

beta-Endorphin

Phase 2, Phase 3

Neurotransmitter Agents

Phase 2, Phase 3

Endorphins

Phase 2, Phase 3

Denosumab

Approved

Phase 2

615258-40-7

Calcium carbonate

Approved, Investigational

Phase 2

471-34-1

Rifampicin

Approved

Phase 2

13292-46-1

135512673 5381226 135900090

Pharmaceutical Solutions

Phase 2

Dialysis Solutions

Phase 2

Immunoglobulins

Phase 1, Phase 2

Antibodies, Monoclonal

Phase 1, Phase 2

Antibodies

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2

Dihydroxyphenylalanine

Phase 2

Antibiotics, Antitubercular

Phase 2

Anti-Bacterial Agents

Phase 2

Anti-Infective Agents

Phase 2

Antitubercular Agents

Phase 2

Somatostatin

Approved, Investigational

38916-34-6, 51110-01-1

53481605 16129706

Mineral oil

Approved, Vet_approved

8042-47-5

Vitamin A

Approved, Nutraceutical, Vet_approved

22737-96-8, 68-26-8

5280382 445354

Liver Extracts

Gastrins

Dermatologic Agents

Retinol palmitate

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

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Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

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

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Anatomical Context for Hypercalcemia, Infantile, 1

Organs/tissues related to Hypercalcemia, Infantile, 1:

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

ODiseA: Kidney

Sources

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	Streeten EA...Damcott CM	22047572	2011
2	Mutations in CYP24A1 and idiopathic infantile hypercalcemia. ⁶² ⁵⁷ ⁵	Schlingmann KP...Konrad M	21675912	2011
3	[Hypercalcemia following prophylactic vitamin D administration]. ⁵⁷ ⁵	Misselwitz J...Hesse V	3490596	1986
4	Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. ⁶² ⁵	Gigante M...Gesualdo L	27394135	2016
5	Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. ⁶² ⁵	Cools M...Bouillon R	26117226	2015
6	Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. ⁶² ⁵	Jobst-Schwan T...Wiesener MS	26304832	2015
7	Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. ⁶² ⁵	Dinour D...Holtzman EJ	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	Figueres ML...Hourmant M	25446019	2015
9	A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. ⁶² ⁵	Wolf P...Krebs M	24518185	2014
10	Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. ⁶² ⁵	Dinour D...Holtzman EJ	23470222	2013
11	Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. ⁶² ⁵	Skalova S...Schlingmann KP	23485543	2013
12	Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. ⁶² ⁵	Fencl F...Seeman T	23001465	2013
13	Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. ⁶² ⁵	Dauber A...Hirschhorn JN	22112808	2012
14	CYP24A1 mutations in idiopathic infantile hypercalcemia. ⁶² ⁵	Ji HF...Shen L	22047571	2011
15	Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D? ⁶² ⁵⁷	Weisman Y...Edelstein S	459990	1979
16	Metabolic studies in a patient with idiopathic hypercalcemia of infancy. ⁶² ⁵⁷	KENNY FM...BLIZZARD RM	14031980	1963
17	Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. ⁵	Baudart P...Marcelli C	28109821	2017
18	Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ⁵	Braun DA...Hildebrandt F	26787776	2016
19	CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. ⁵	Molin A...Kottler ML	26214117	2015
20	Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. ⁵	Shah AD...Block-Kurbisch I	26097993	2015
21	CYP24A1 mutation leading to nephrocalcinosis. ⁵	Dowen FE...Sayer JA	24875559	2014
22	A lifetime of hypercalcemia and hypercalciuria, finally explained. ⁵	Jacobs TP...Bilezikian JP	24423361	2014
23	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. ⁵	Nesterova G...Gahl WA	23293122	2013
24	Possible dominant inheritance of the idiopathic hypercalcemic syndrome. ⁵⁷	Mehes K...Toth P	1150292	1975
25	Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis. ⁵⁷	HOOFT C...VANHEULE R	13715699	1961
26	Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. ⁵⁷	SMITH DW...HARRISON HE	13674824	1959
27	Idiopathic infantile hypercalcemia and renal involvement. ⁵³ ⁶²	Sakallioglu O...Gok F	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	Danoff SK...Desiderio S	14751286	2004
29	Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. ⁵³ ⁶²	Osborne LR...Tsui LC	8812460	1996
30	Idiopathic infantile hypercalcemia discovered in the newborn period. ⁵³ ⁶²	Shimizu H...Kobayashi T	7871992	1994
31	Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin. ⁵³ ⁶²	Alon U...Berant M	1606583	1992
32	Characterization of the calcitonin/CGRP gene in Williams syndrome. ⁵³ ⁶²	Russo AF...Murray JC	1867260	1991
33	Williams (Elfin Facies) syndrome: review of the literature and report of a rare case. ⁵³ ⁶²	Boraz RA	2033166	1991
34	Williams syndrome: an historical perspective of its evolution, natural history, and etiology. ⁵³ ⁶²	Jones KL	2118785	1990
35	Rare cause of life-threatening hypercalcemia in an infant: a case report. ⁶²	Lefevre CR...Moreau C	36453734	2022
36	Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia. ⁶²	Gurevich E...Landau D	36156733	2022
37	Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1. ⁶²	St-Arnaud R...Jones G	35956396	2022
38	Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant. ⁶²	Brancatella A...Cetani F	35569070	2022
39	The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. ⁶²	Bieri C...Wagner CA	35414099	2022
40	AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT. ⁶²	Trutin I...Skoric I	35282483	2022
41	Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease. ⁶²	Granhoj J...Rasmussen M	34515170	2022
42	Vitamin D-dependent Hypercalcemia. ⁶²	Schlingmann KP	34774244	2021
43	Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review. ⁶²	Cappellani D...Cetani F	34735369	2021
44	Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings. ⁶²	Lenherr-Taube N...Levine MA	34125233	2021
45	Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study. ⁶²	Lenherr-Taube N...Sochett E	34139759	2021
46	Williams Syndrome With Rare Ureteric Abnormality. ⁶²	Khan J...Fan R	34540437	2021
47	Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management. ⁶²	Jung J...Lee BH	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	Hureaux M...Brehin AC	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	De Bonis M...Minucci A	33864587	2021
50	Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. ⁶²	Kowalska E...Litwin M	33516786	2021

Sources

Genes for Hypercalcemia, Infantile, 1

Genes related to Hypercalcemia, Infantile, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CYP24A1	Cytochrome P450 Family 24 Subfamily A Member 1	Protein Coding	1332.69	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	3490596 21675912 22047571 (more) 22047572 22112808 23001465 23293122 23470222 23485543 24423361 24518185 24875559 25194629 25446019 26097993 26117226 26214117 26304832 26787776 27394135 28109821
2	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	25	Likely pathogenic ⁵
3	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	11.71	Novoseek inferred ⁵³	1424212 8453901 10660809 (more) 1434529 7955450 8790147 10338336 9040221 14613038 11104629 1782489 11747283 9413289 1346019 12576923 11774403 8537484 9643563 7880211 12399610 2320080 8712650 8406415 2394507 2348564 2293655 9623520 9309539 1280391 1322859 10420232 9758444 9362423 1700240 18614854 8287589 1997102 8627105 8428711 17360305 2347892 8019040 8412332 1469794 2224795 9660083 8030440 16239205 11925871 10898332 8641981 12365018 11573150 9853700 7596049 7535368 7849379 8107631 8277370 1624608 10048292 9370119 8969618 8961913 1480540 1371724 1911223 2316398 1967417 11506305 9422518 7572910 7910069 2048434 16006777 15345899 12893397 12611617 10637074 15251676 8604692 7769125 8060769 8295494 8445039 8433083 19168044 18480662 15256329 11737483 10737013 10522993 8746102 7923831 1319327 17188588 16482944 8352067 8453257
4	CASR	Calcium Sensing Receptor	Protein Coding	11.02	Novoseek inferred ⁵³	10468915 19694204 15241791 (more) 11857921 11013439 15579740 15879434 11668634 18787045 15347804 16882283 19789209 16596058 16603723 9039332 19073830 12521205 15963484 15588433 15572418 1302026 15200151 15662592 17853337 12519831 8813042 18328986 17473068 15241688 15064673 12412776 12412774 19953642 19389809 12469911 12173690 10023897 8934212 8597637 19615558 15356841 15338977 14641934 19355940 18796518 18525093 12580936 8815789 19580466 19423460 19179454 17974727 17217434 16491288 16147994 15292296 15269316 12970167 11762699 10971459 10885494 9915958 9920407 8965680 7717399 17320849 14715834 14696811 11889203 11161843 11095989 10199162 17372216 16649980 16598859 15548788 14714270 20164288 18296474 18175872 16497624 15559962 9109436
5	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	10.15	Novoseek inferred ⁵³	17681097 16143533 2137363 (more) 11225473 9458321 17188588 12749663 8259844 1938595 1571826 8091766 1761142 2328745 12776255 10832449 2118785 16491288 14736909 7543127 1606583 8439262 8740333 11412402 9640227 2363727 7924003 12708052 15497514 17572525 7483054 7521833 8213878 1778237 1933616 1867260 2238625 2222097 17978858 9152296 7752486 8410467 8328411 8462348 1487889 1637574 1790647 19282478 19802031 20389108 19606248 18288984 12625112 15775628 7634618 8128979 8453860 14696811 11996631 10918435 9617323 8949352 8808222 8528347 8506902 8488334 2039258 2084927 18839218 18055485 16856000 1552188 2060148 2334172 17395337 16882790 15505994 11472896 10811300 10101452 10082449 8960013 8564993 1462441 1528131 1879049 2028833 8453509 2161790 19135828 17695305 17214344 16573443 15715044 15064673 17360305 16158612 15685444 16233137 11123497
6	PTH	Parathyroid Hormone	Protein Coding	10.12	Novoseek inferred ⁵³	1849762 16077176 1993319 (more) 10660809 17178702 7955450 11046116 17368185 16491288 9364360 1605164 10620210 16160737 7903311 12753275 12213894 10469275 1934478 12009004 8029686 1845254 15240651 2298168 16598859 9370119 7752469 17367404 15118272 8369362 12940896 1286527 1689222 12679445 10487664 7684395
7	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	9.86	Novoseek inferred ⁵³	8855805 9213256 8579896 (more) 7797535 8156920 10912527 1660713 9447281 8823527 11346230 2166424
8	VDR	Vitamin D Receptor	Protein Coding	8.99	Novoseek inferred ⁵³	11033842 16528410 18180267 (more) 11562285 18689406 11117107 14594170 16101412 17914251 12231068 1315257

Sources

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

Sources

Expression for Hypercalcemia, Infantile, 1

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

Sources

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	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.21	PTHLH PTH1R PTH CASR CALCA
2	Class A/1 (Rhodopsin-like receptors) ⁶⁶ Show member pathways GPCR ligand binding ⁶⁶ GPCRs, class A rhodopsin-like ⁷⁴ Peptide GPCRs ⁷⁴ Peptide ligand-binding receptors ⁶⁶	12.98	PTHLH PTH1R PTH CASR CALCA
3	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.11	CALCA PTH PTH1R PTHLH
4	Vitamin D receptor pathway ⁷⁴	11.94	VDR PTHLH PTH CYP24A1
5	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.83	PTHLH PTH1R PTH CALCA
6	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.71	PTHLH PTH1R PTH
7	Non-genomic actions of 1,25 dihydroxyvitamin D3 ⁷⁴	11.26	VDR CYP24A1
8	Nuclear receptors in lipid metabolism and toxicity ⁷⁴	11.07	VDR CYP24A1
9	FGFR3 signaling in chondrocyte proliferation and terminal differentiation ⁷⁴	10.94	PTHLH PTH1R
10	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.85	VDR PTHLH PTH1R PTH
11	Regucalcin in proximal tubule epithelial kidney cells ⁷⁴	10.84	PTH CALCA
12	PI3K/AKT/mTOR - vitamin D3 signaling ⁷⁴	10.82	VDR CYP24A1
13	FGF23 signaling in hypophosphatemic rickets and related disorders ⁷⁴	10.78	SLC34A1 PTH CYP24A1
14	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	10.67	VDR PTH1R PTH CYP24A1 CALCA
15	Vitamin D metabolism ⁷⁴	10.33	VDR PTH CYP24A1

Sources

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