MCID: IDP085
MIFTS: 27

Idiopathic Infantile Hypercalcemia

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

Aliases & Classifications for Idiopathic Infantile Hypercalcemia

MalaCards integrated aliases for Idiopathic Infantile Hypercalcemia:

Name: Idiopathic Infantile Hypercalcemia 25
Autosomal Recessive Infantile Hypercalcemia 25 59 29
Familial Infantile Hypercalcemia with Suppressed Intact Parathyroid Hormone 59
Vitamin D Hypersensitivity 25
Iih 25

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive infantile hypercalcemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA300547
ICD10 via Orphanet 34 E83.5

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).

MalaCards based summary : Idiopathic Infantile Hypercalcemia, also known as autosomal recessive infantile hypercalcemia, is related to nephrocalcinosis and congenital disorder of glycosylation, type iih. 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 Cytochrome P-450 CYP3A Inducers have been mentioned in the context of this disorder. Affiliated tissues include kidney and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Idiopathic Infantile Hypercalcemia

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.02 SLC34A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.02 CYP24A1 SLC34A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.02 CYP24A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.02 CYP24A1

Drugs & Therapeutics for Idiopathic Infantile Hypercalcemia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifampicin Approved Phase 2,Phase 1 13292-46-1 5458213 5381226
2 Cytochrome P-450 CYP3A Inducers Phase 2,Phase 1
3 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
4 Anti-Bacterial Agents Phase 2,Phase 1
5 Antibiotics, Antitubercular Phase 2,Phase 1
6 Anti-Infective Agents Phase 2,Phase 1
7 Antitubercular Agents Phase 2,Phase 1
8 Calcium, Dietary Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria Recruiting NCT03301038 Phase 2 Rifampin
2 The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH Recruiting 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:

41
Kidney, Testes

Publications for Idiopathic Infantile Hypercalcemia

Articles related to Idiopathic Infantile Hypercalcemia:

(show all 23)
# Title Authors Year
1
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH). ( 29574006 )
2018
2
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. ( 28874334 )
2018
3
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)<sub>2</sub>D<sub>3</sub>in Affected Patients. ( 28304097 )
2017
4
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. ( 27394135 )
2016
5
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. ( 26047794 )
2016
6
Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review. ( 26731879 )
2015
7
Idiopathic infantile hypercalcemia: case report and review of the literature. ( 26501157 )
2015
8
A Case of &amp;quot;Late-Onset&amp;quot; Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. ( 24518185 )
2014
9
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. ( 23485543 )
2013
10
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. ( 23001465 )
2013
11
Bisphosphonates for treatment of severe idiopathic infantile hypercalcemia. ( 23485530 )
2013
12
Idiopathic infantile hypercalcemia or an extrapulmonary complication of tuberculosis? ( 23581265 )
2013
13
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. ( 21675912 )
2011
14
CYP24A1 mutations in idiopathic infantile hypercalcemia. ( 22047571 )
2011
15
CYP24A1 mutations in idiopathic infantile hypercalcemia. ( 22047572 )
2011
16
Idiopathic infantile hypercalcemia and renal involvement. ( 17978858 )
2008
17
Nephrocalcinosis in a 2-month-old girl suffering from a mild variant of idiopathic infantile hypercalcemia. ( 15865256 )
2004
18
Familial occurrence of idiopathic infantile hypercalcemia. ( 10502124 )
1999
19
Idiopathic infantile hypercalcemia discovered in the newborn period. ( 7871992 )
1994
20
Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin. ( 1606583 )
1992
21
Observations on the evolution and treatment of idiopathic infantile hypercalcemia. ( 6502307 )
1984
22
Vitamin D metabolism in idiopathic infantile hypercalcemia. ( 6271008 )
1981
23
Further observation on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis. ( 842441 )
1977

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:

# Super pathways Score Top Affiliating Genes
1 10.65 CYP24A1 SLC34A1

GO Terms for Idiopathic Infantile Hypercalcemia

Sources for Idiopathic Infantile Hypercalcemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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