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Article

CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.

Journal of clinical research in pediatric endocrinology - 1 Mar 2018

Madsen Jens Otto Broby, Sauer Sabrina, Beck Bodo, Johannesen Jesper

Abstract excerpt

Idiopathic infantile hypercalcemia (IIH) was associated with vitamin-D supplementation in the 1950's. Fifty years later, mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. We report a case of a 21-month old girl, initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia and...

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Share to IHH gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28874334
DOI: 10.4274/jcrpe.4841
PMCID: PMC5838379

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.PMID 28874334Read ↗

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutationSemantic proximity Read ↗

[New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood].Semantic proximity Read ↗

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.Semantic proximity Read ↗

Mutations in CYP24A1 and idiopathic infantile hypercalcemia.Semantic proximity Read ↗

Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.Semantic proximity Read ↗

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotypeSemantic proximity Read ↗

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1Semantic proximity Read ↗

Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers.Semantic proximity Read ↗

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake.Semantic proximity Read ↗

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.Semantic proximity Read ↗

Genetic Defect in<i>CYP24A1</i>, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile HypercalcemiaSemantic proximity Read ↗

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.Semantic proximity Read ↗

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