IIH
MCID: IDP085
MIFTS: 28

Idiopathic Infantile Hypercalcemia (IIH)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Infantile Hypercalcemia

MalaCards integrated aliases for Idiopathic Infantile Hypercalcemia:

Name: Idiopathic Infantile Hypercalcemia 25
Autosomal Recessive Infantile Hypercalcemia 25 58 29
Familial Infantile Hypercalcemia with Suppressed Intact Parathyroid Hormone 58
Vitamin D Hypersensitivity 25
Iih 25

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive infantile hypercalcemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E83.5
Orphanet 58 ORPHA300547

Summaries for Idiopathic Infantile Hypercalcemia

Genetics Home Reference : 25 Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2. In infants with either type, hypercalcemia can cause vomiting, increased urine production (polyuria), dehydration, constipation, poor feeding, weight loss, and an inability to grow and gain weight as expected (failure to thrive). As they age, affected babies usually have delayed development of mental and movement abilities (psychomotor delay). Individuals with infantile hypercalcemia 1 or 2 may also have high levels of calcium in their urine (hypercalciuria) and deposits of calcium in their kidneys (nephrocalcinosis). With treatment, the outward symptoms of hypercalcemia, such as vomiting, dehydration, failure to thrive, and psychomotor delay, usually improve in childhood. However, affected children still tend to have higher-than-normal amounts of calcium in their blood and urine and calcium deposits in their kidneys. By adulthood, long-term hypercalcemia and hypercalciuria can lead to the formation of kidney stones (nephrolithiasis) and may damage the kidneys and impair their function. Affected adults may also develop calcium deposits in the joints or in the clear outer covering of the eye (the cornea), and some have low bone mineral density (osteoporosis). In rare cases, affected individuals do not have symptoms of hypercalcemia in infancy, and the condition begins in later childhood or adulthood. These individuals usually develop hypercalciuria, nephrocalcinosis, and nephrolithiasis, although the features may not cause any obvious health problems. Although most signs and symptoms are similar between the two known types of idiopathic infantile hypercalcemia, individuals with infantile hypercalcemia 2 have low levels of a mineral called phosphate in the blood (hypophosphatemia), while phosphate levels are typically normal in people with infantile hypercalcemia 1.

MalaCards based summary : Idiopathic Infantile Hypercalcemia, also known as autosomal recessive infantile hypercalcemia, is related to hypercalcemia, infantile, 1 and nephrocalcinosis. An important gene associated with Idiopathic Infantile Hypercalcemia is CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. The drugs Rifampicin and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Idiopathic Infantile Hypercalcemia

Diseases related to Idiopathic Infantile Hypercalcemia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 66, show less)
# Related Disease Score Top Affiliating Genes
1 hypercalcemia, infantile, 1 32.7 PDLIM1 CYP24A1
2 nephrocalcinosis 29.7 SLC34A1 CYP24A1
3 rickets 29.5 SLC34A1 CYP24A1
4 mineral metabolism disease 29.4 SLC34A1 CYP24A1
5 nephrolithiasis 29.1 SLC34A1 CYP24A1
6 congenital disorder of glycosylation, type iih 12.7
7 intracranial hypertension, idiopathic 12.2
8 intracranial hypertension 10.8
9 papilledema 10.5
10 xeroderma pigmentosum, variant type 10.5
11 hydrocephalus 10.3
12 headache 10.3
13 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2
14 cockayne syndrome 10.2
15 trichothiodystrophy 10.2
16 yeast factor 10.1
17 3-methylglutaconic aciduria, type iii 10.1
18 xeroderma pigmentosum, complementation group c 10.1
19 yemenite deaf-blind hypopigmentation syndrome 10.1
20 body mass index quantitative trait locus 1 10.1
21 allergic hypersensitivity disease 10.1
22 cranial nerve palsy 10.1
23 supravalvular aortic stenosis 10.1
24 williams-beuren syndrome 10.1
25 mesothelioma, malignant 10.0
26 migraine with or without aura 1 10.0
27 otitis media 10.0
28 hutchinson-gilford progeria syndrome 10.0
29 thrombophilia due to thrombin defect 10.0
30 ataxia-telangiectasia 10.0
31 lung cancer 10.0
32 xeroderma pigmentosum, complementation group d 10.0
33 ataxia and polyneuropathy, adult-onset 10.0
34 xeroderma pigmentosum, complementation group b 10.0
35 congenital disorder of glycosylation, type in 10.0
36 amnestic disorder 10.0
37 optic neuritis 10.0
38 von willebrand's disease 10.0
39 telangiectasis 10.0
40 transient global amnesia 10.0
41 neuritis 10.0
42 optic nerve disease 10.0
43 benign mesothelioma 10.0
44 adenocarcinoma 10.0
45 mouth disease 10.0
46 hypoglycemia 10.0
47 whiplash 10.0
48 hypercalciuria, absorptive, 2 9.9
49 nephrolithiasis, calcium oxalate 9.9
50 sarcoidosis 1 9.9
51 hypercalcemia, infantile, 2 9.9
52 hypophosphatemia 9.9
53 familial hypocalciuric hypercalcemia 9.9
54 bone resorption disease 9.9
55 hyperparathyroidism 9.9
56 renal tubular acidosis 9.9
57 pyuria 9.9
58 constipation 9.9
59 hyperthyroidism 9.9
60 miliary tuberculosis 9.9
61 distal renal tubular acidosis 9.9
62 hypotonia 9.9
63 hypervitaminosis d 9.8 PDLIM1 CYP24A1
64 hypophosphatemic rickets, x-linked recessive 9.5 SLC34A1 CYP24A1
65 phosphorus metabolism disease 9.5 SLC34A1 CYP24A1
66 osteomalacia 9.4 SLC34A1 CYP24A1

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



Diseases related to Idiopathic Infantile Hypercalcemia

Symptoms & Phenotypes for Idiopathic Infantile Hypercalcemia

GenomeRNAi Phenotypes related to Idiopathic Infantile Hypercalcemia according to GeneCards Suite gene sharing:

26 (showing 7, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.17 CYP24A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.17 SLC34A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.17 SLC34A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.17 CYP24A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.17 SLC34A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.17 CYP24A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.17 CYP24A1

Drugs & Therapeutics for Idiopathic Infantile Hypercalcemia

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

(showing 16, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifampicin Approved Phase 2 13292-46-1 5381226 5458213
2
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
4 Trace Elements Phase 2
5 Micronutrients Phase 2
6 Pharmaceutical Solutions Phase 2
7 Vitamins Phase 2
8 Hormones Phase 2
9 Nutrients Phase 2
10 Calciferol Phase 2
11 Antitubercular Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Anti-Bacterial Agents Phase 2
14 Calcium, Dietary Phase 2
15 Antibiotics, Antitubercular Phase 2
16
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 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
2 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
3 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

Search NIH Clinical Center for Idiopathic Infantile Hypercalcemia

Genetic Tests for Idiopathic Infantile Hypercalcemia

Genetic tests related to Idiopathic Infantile Hypercalcemia:

# Genetic test Affiliating Genes
1 Autosomal Recessive Infantile Hypercalcemia 29

Anatomical Context for Idiopathic Infantile Hypercalcemia

MalaCards organs/tissues related to Idiopathic Infantile Hypercalcemia:

40
Kidney, Bone, Eye, Heart, Testes

Publications for Idiopathic Infantile Hypercalcemia

Articles related to Idiopathic Infantile Hypercalcemia:

(showing 77, show less)
# Title Authors PMID Year
1
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. 6 61
26047794 2016
2
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6 61
22047571 2011
3
CYP24A1 mutations in idiopathic infantile hypercalcemia. 6 61
22047572 2011
4
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 6 61
21675912 2011
5
Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis? 6
20466674 2010
6
[Hypercalcemia following prophylactic vitamin D administration]. 6
3490596 1986
7
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia. 61
30423445 2019
8
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. 61
31188746 2019
9
[Idiopathic infantile hypercalcemia]. 61
31060133 2019
10
Calcioic acid: In vivo detection and quantification of the terminal C24-oxidation product of 25-hydroxyvitamin D3 and related intermediates in serum of mice treated with 24,25-dihydroxyvitamin D3. 61
30553931 2019
11
Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report. 61
30943683 2019
12
External Quality Assessment of 24,25-dihydroxyvitamin D3 (24,25(OH)2D3) assays. 61
30476591 2019
13
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia. 61
30633617 2019
14
Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene. 61
30227399 2019
15
Juvenile onset IIH and CYP24A1 mutations. 61
30591926 2018
16
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. 61
29933504 2018
17
Re: A Rapid Screening of a Recurrent CYP24A1 Pathogenic Variant Opens the Way to Molecular Testing for Idiopathic Infantile Hypercalcemia (IIH). 61
30412972 2018
18
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH). 61
29574006 2018
19
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. 61
28874334 2018
20
Vitamin D Toxicity-A Clinical Perspective. 61
30294301 2018
21
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease. 61
29029121 2017
22
Genetic Diseases of Vitamin D Metabolizing Enzymes. 61
29080636 2017
23
Childhood Sustained Hypercalcemia: A Diagnostic Challenge. 61
28443817 2017
24
Hypercalcemic Disorders in Children. 61
28914984 2017
25
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. 61
28093352 2017
26
A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole. 61
29457022 2017
27
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases. 61
28470390 2017
28
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients. 61
28304097 2017
29
CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations. 61
28324001 2017
30
A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up. 61
27798933 2017
31
Idiopathic infantile hypercalcemia: case report and review of the literature. 61
26501157 2016
32
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. 61
27394135 2016
33
25-Hydroxyvitamin D₃ 24-Hydroxylase: A Key Regulator of 1,25(OH)₂D₃ Catabolism and Calcium Homeostasis. 61
26827951 2016
34
Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects. 61
26681795 2016
35
Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. 61
26117226 2015
36
Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review. 61
26731879 2015
37
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors. 61
26540764 2015
38
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. 61
25446019 2015
39
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. 61
26304832 2015
40
Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. 61
25194629 2015
41
Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD. 61
24670084 2014
42
A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. 61
24518185 2014
43
Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations. 61
23768816 2013
44
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. 61
23470222 2013
45
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. 61
23485543 2013
46
Bisphosphonates for treatment of severe idiopathic infantile hypercalcemia. 61
23485530 2013
47
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. 61
23001465 2013
48
Idiopathic infantile hypercalcemia or an extrapulmonary complication of tuberculosis? 61
23581265 2013
49
25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D. 61
22100522 2012
50
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. 61
22112808 2012
51
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. 61
21597970 2011
52
Idiopathic infantile hypercalcemia and renal involvement. 61
17978858 2008
53
[Idiopathic infantile hypercalcemia]. 61
16817378 2006
54
Nephrocalcinosis in a 2-month-old girl suffering from a mild variant of idiopathic infantile hypercalcemia. 61
15865256 2004
55
[Electron beam computed tomography of the heart before kidney transplantation. Severe coronary disease in a 21-year old woman with nephrocalcinosis due to infantile hypercalcemia syndrome]. 61
11315400 2001
56
Familial occurrence of idiopathic infantile hypercalcemia. 61
10502124 1999
57
Hypercalcemia of the newborn: etiology, evaluation, and management. 61
10452286 1999
58
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. 61
7611295 1995
59
Idiopathic infantile hypercalcemia discovered in the newborn period. 61
7871992 1994
60
Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin. 61
1606583 1992
61
[Idiopathic infantile hypercalcemia]. 61
2257589 1990
62
Hypercalcemia in infants presenting with apnea. 61
2207905 1990
63
Williams syndrome: an historical perspective of its evolution, natural history, and etiology. 61
2118785 1990
64
[Idiopathic infantile hypercalcemia and Williams syndrome]. 61
3764822 1986
65
[Idiopathic infantile hypercalcemia. Description of a case]. 61
4021936 1985
66
Observations on the evolution and treatment of idiopathic infantile hypercalcemia. 61
6502307 1984
67
Vitamin D metabolism in idiopathic infantile hypercalcemia. 61
6271008 1981
68
Supravalvular aortic stenosis with parafollicular cell (C-cell) hyperplasia. 61
655198 1978
69
Further observation on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis. 61
842441 1977
70
The elfin facies syndrome. 61
1057147 1975
71
[Idiopathic infantile hypercalcemia. Elfin face syndrome. Severe idiopathic hypercalcemia in childhood. Supravalvular aortic stenosis]. 61
4757123 1973
72
Abnormal muscle cylinder ratio in idiopathic infantile hypercalcemia: a new roentgen sign. 61
5415927 1970
73
IDIOPATHIC INFANTILE HYPERCALCEMIA, WITH SUBCUTANEOUS FAT NECROSIS. 61
14159215 1964
74
[Contributions to the pathology of idiopathic infantile hypercalcemia]. 61
14458364 1962
75
[Hypercalcemia and idiopathic infantile hypercalcemia]. 61
14458365 1961
76
[Idiopathic infantile hypercalcemia]. 61
13854353 1959
77
[Idiopathic infantile hypercalcemia]. 61
13501644 1957

Variations for Idiopathic Infantile Hypercalcemia

Expression for Idiopathic Infantile Hypercalcemia

Search GEO for disease gene expression data for Idiopathic Infantile Hypercalcemia.

Pathways for Idiopathic Infantile Hypercalcemia

Pathways related to Idiopathic Infantile Hypercalcemia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.65 SLC34A1 CYP24A1

GO Terms for Idiopathic Infantile Hypercalcemia

Sources for Idiopathic Infantile Hypercalcemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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