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Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
Features include always present findings: Nephrocalcinosis; and very common findings: Hypercalciuria. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 3 | Nephrocalcinosis, Medullary nephrocalcinosis, Renal phosphate wasting |
SLC34A1 function has not been fully characterized.
Hypercalcemia, infantile, 2 is caused by mutations in the SLC34A1 gene on chromosome 5.
Genetic testing for SLC34A1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.
No clinical trials have been registered for hypercalcemia, infantile, 2.
10 publications have been identified in PubMed for hypercalcemia, infantile, 2. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (20%), and Other (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 50% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:14 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
2 |
Low muscle tone (hypotonia), Renal phosphate wasting |
Growth and development | 1 | Failure to thrive |
2 |
20% |
Other research | 1 | 10% |
Research summaries | 1 | 10% |
Laboratory research | 1 | 10% |
Turan I (2026). [PMID: 41543768](https://pubmed.ncbi.nlm.nih.gov/41543768/). *Calcif Tissue Int*. [Case Report / Case Series]
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]
Mura-Escorche G (2025). [PMID: 40943461](https://pubmed.ncbi.nlm.nih.gov/40943461/). *Int J Mol Sci*. [Case Report / Case Series]
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]
Park E (2025). [PMID: 40627324](https://pubmed.ncbi.nlm.nih.gov/40627324/). *CEN Case Rep*. [Case Report / Case Series]
Brancatella A (2024). [PMID: 38329607](https://pubmed.ncbi.nlm.nih.gov/38329607/). *J Endocrinol Invest*. [Other]
Verjans M (2024). [PMID: 38753084](https://pubmed.ncbi.nlm.nih.gov/38753084/). *Pediatr Nephrol*. [Case Report / Case Series]
Jones G (2024). [PMID: 38780860](https://pubmed.ncbi.nlm.nih.gov/38780860/). *J Endocrinol Invest*. [Review / Meta-Analysis]
AI-curated news mentioning hypercalcemia, infantile, 2
Updated Feb 20, 2026
A recent case report highlights sinus bradycardia as an atypical manifestation of severe hypercalcemia. This finding adds to the understanding of hypercalcemia's clinical presentations and may influence future diagnostic approaches.