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hypercalcemia, infantile, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypercalcemia, infantile, 1

MONDO:0020739

Also known as:HCINF1autosomal recessive infantile hypercalcemia 1

Overview

GeneticsAutosomal recessive · CYP24A1 (chr 20)

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Medullary nephrocalcinosis, Decreased circulating parathyroid hormone level, Hypercalciuria, and Hypercalcemia; and common findings: Low muscle tone (hypotonia), Failure to thrive, and Polyuria. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CYP24A1 encodes cytochrome P450 family 24 subfamily A member 1 (514 aa). A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Highest expression in Kidney Medulla (24.6 TPM) and Kidney Cortex (12.8 TPM).

Hypercalcemia, infantile, 1 is associated with mutations in the CYP24A1 gene on chromosome 20.

The CYP24A1 protein participates in CYP24A1 C477Lfs*14, CYP24A1 24-hydroxylates CTL, and CYP24A1 hydroxylates 1,25(OH)2D, inactivating it pathways.

CYP24A1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 5.8.

Diagnosis

Genetic testing for CYP24A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypercalcemia, infantile, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypercalcemia, infantile, 1.

8 publications have been identified in PubMed for hypercalcemia, infantile, 1. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Ahel IB (2026). [PMID: 41982776](https://pubmed.ncbi.nlm.nih.gov/41982776/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Eltan M (2026). [PMID: 41327588](https://pubmed.ncbi.nlm.nih.gov/41327588/). *Clin Endocrinol (Oxf)*. [Basic Science / Preclinical]
Amato LA (2025). [PMID: 40384348](https://pubmed.ncbi.nlm.nih.gov/40384348/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Kulikova KS (2025). [PMID: 41640145](https://pubmed.ncbi.nlm.nih.gov/41640145/). *Probl Endokrinol (Mosk)*. [Epidemiology / Natural History]
Mura-Escorche G (2025). [PMID: 40943461](https://pubmed.ncbi.nlm.nih.gov/40943461/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:143880

GARD

Genetic and Rare Diseases Info Center

GARD:18434

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypercalcemia, infantile, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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