Idiopathic Infantile Hypercalcemia

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Camila Xu	+ 856 word(s)	856	2020-12-15 07:27:43

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Xu, C. Idiopathic Infantile Hypercalcemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4236 (accessed on 28 September 2026).

Xu C. Idiopathic Infantile Hypercalcemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4236. Accessed September 28, 2026.

Xu, Camila. "Idiopathic Infantile Hypercalcemia" Encyclopedia, https://encyclopedia.pub/entry/4236 (accessed September 28, 2026).

Xu, C. (2020, December 23). Idiopathic Infantile Hypercalcemia. In Encyclopedia. https://encyclopedia.pub/entry/4236

Xu, Camila. "Idiopathic Infantile Hypercalcemia." Encyclopedia. Web. 23 December, 2020.

Idiopathic Infantile Hypercalcemia

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia

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.

genetic conditions

References

Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. J Steroid Biochem Mol Biol. 2017 Oct;173:337-340. doi:10.1016/j.jsbmb.2017.01.006.
Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R. Calciumand bone homeostasis in heterozygous carriers of CYP24A1 mutations: Across-sectional study. Bone. 2015 Dec;81:89-96. doi: 10.1016/j.bone.2015.06.018.
Figueres ML, Linglart A, Bienaime F, Allain-Launay E, Roussey-Kessler G,Ryckewaert A, Kottler ML, Hourmant M. Kidney function and influence of sunlightexposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1mutations. Am J Kidney Dis. 2015 Jan;65(1):122-6. doi:10.1053/j.ajkd.2014.06.037.
Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D,Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M,Schlingmann KP, Litwin M. Biallelic mutations in CYP24A1 or SLC34A1 as a cause ofinfantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity:molecular study of 11 historical IIH cases. J Appl Genet. 2017 Aug;58(3):349-353.doi: 10.1007/s13353-017-0397-2.
Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J,Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG,Bindels RJ, Prosser DE, Jones G, Konrad M. Mutations in CYP24A1 and idiopathicinfantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi:10.1056/NEJMoa1103864.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, PronickaE, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L,Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E,Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2016Feb;27(2):604-14. doi: 10.1681/ASN.2014101025.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu

View Times: 736

Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

Video Upload Options

References