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Infantile Hypercalcemia

Infantile Hypercalcemia (Idiopathic Infantile Hypercalcemia, IIH): Disease Characteristics Research Report

2026-05-03
Falcon MONDO:0000212 Model: Edison Scientific Literature 22 citations

Infantile Hypercalcemia (Idiopathic Infantile Hypercalcemia, IIH): Disease Characteristics Research Report

Executive summary

Infantile hypercalcemia (also called idiopathic infantile hypercalcemia, IIH) is a rare genetic disorder classically presenting in infancy with parathyroid hormone (PTH)-independent hypercalcemia, hypercalciuria, and nephrocalcinosis; it is most often caused by defects in vitamin D catabolism (CYP24A1; “infantile hypercalcemia type 1”) or renal phosphate handling (SLC34A1; “infantile hypercalcemia type 2”). (wang2024biallelicandmonoallelic pages 1-2, bizereamoga2023phenotypeofidiopathic pages 1-2)

Recent (2023–2024) literature emphasizes: (i) broader genotype–phenotype spectra including symptomatic monoallelic carriers; (ii) the utility of next-generation sequencing (NGS) for diagnosis; (iii) antenatal presentations in SLC34A1-related disease; and (iv) the need for long-term renal surveillance because chronic kidney disease (CKD) can develop in survivors. (wang2024biallelicandmonoallelic pages 1-2, khan2023acaseof pages 2-4, verjans2024antenatalpresentationand pages 6-9)

1. Disease information

1.1 Definition and overview

Idiopathic infantile hypercalcemia (IIH) is described as a “rare disorder of PTH-independent hypercalcemia.” (wang2024biallelicandmonoallelic pages 1-2)

A 2023 review/case series explicitly states: “Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3.” (bizereamoga2023phenotypeofidiopathic pages 1-2)

Clinically, IIH is classically characterized by hypercalcemia with suppressed PTH and associated renal and systemic manifestations such as hypercalciuria and nephrocalcinosis, often accompanied by nonspecific infant symptoms (poor feeding, vomiting, failure to thrive, dehydration). (bizereamoga2023phenotypeofidiopathic pages 1-2, khan2023acaseof pages 2-4)

Evidence source type: aggregated disease-level resources and case series/reviews, plus individual case reports and cohorts. (wang2024biallelicandmonoallelic pages 1-2, bizereamoga2023phenotypeofidiopathic pages 1-2, khan2023acaseof pages 2-4)

1.2 Key identifiers and synonyms

Synonyms/aliases used in recent literature include: infantile hypercalcemia / infantile hypercalcaemia, idiopathic infantile hypercalcemia (IIH), hypersensitivity to vitamin D3, infantile hypercalcemia type 1 / type 2, IIH type 1 / IIH type 2, and HCINF1 (for type 1). (bizereamoga2023phenotypeofidiopathic pages 1-2, janiec2021longtermoutcomeof pages 1-2)

OMIM identifiers (supported by primary literature): - Infantile hypercalcemia type 1 (CYP24A1-related): OMIM phenotype 143880; CYP24A1 OMIM gene *126065. (janiec2021longtermoutcomeof pages 1-2, cappellani2022hypercalcemiadueto pages 1-2) - Infantile hypercalcemia type 2 (SLC34A1-related): OMIM phenotype 616963; SLC34A1 OMIM gene *182309. (janiec2021longtermoutcomeof pages 1-2, bizereamoga2023phenotypeofidiopathic pages 6-7)

Orphanet / ICD-10/ICD-11 / MeSH / MONDO: these identifiers were not found in the retrieved full-text evidence set; therefore they cannot be stated with source-backed certainty here. (wang2024biallelicandmonoallelic pages 1-2, janiec2021longtermoutcomeof pages 1-2)

Artifact (identifiers & synonyms): | Entity | Synonyms/aliases | Gene(s) | OMIM phenotype ID | OMIM gene ID | Key notes | Key citation IDs | |---|---|---|---|---|---|---| | Infantile hypercalcemia | Infantile hypercalcaemia; idiopathic infantile hypercalcemia; idiopathic infantile hypercalcaemia; IIH; hypersensitivity to vitamin D3 | CYP24A1, SLC34A1 | General disease term used across subtype literature; specific phenotype IDs below | — | Rare genetic disorder of PTH-independent hypercalcemia; common features include hypercalcemia, hypercalciuria, nephrocalcinosis, suppressed PTH, and elevated/inappropriately normal 1,25(OH)2D3 | (wang2024biallelicandmonoallelic pages 1-2, bizereamoga2023phenotypeofidiopathic pages 1-2) | | Infantile hypercalcemia type 1 | IIH type 1; idiopathic infantile hypercalcemia type 1; infantile hypercalcaemia-1; HCINF1 | CYP24A1 | 143880 | CYP24A1 126065 | Caused by loss-of-function variants in CYP24A1 encoding vitamin D 24-hydroxylase; impaired vitamin D catabolism leads to increased active vitamin D and hypercalcemia | (wang2024biallelicandmonoallelic pages 1-2, janiec2021longtermoutcomeof pages 1-2) | | Infantile hypercalcemia type 2 | IIH type 2; idiopathic infantile hypercalcemia type 2; infantile hypercalcaemia-2; IH subtype 2 | SLC34A1 | 616963 | SLC34A1 182309 | Caused by variants in SLC34A1 encoding renal proximal tubular NaPi-IIa; phosphate wasting can drive increased 1,25(OH)2D3 and hypercalcemia/hypercalciuria | (bizereamoga2023phenotypeofidiopathic pages 6-7, janiec2021longtermoutcomeof pages 1-2) | | CYP24A1-related infantile hypercalcemia | 24-hydroxylase deficiency; vitamin D catabolism defect–related infantile hypercalcemia | CYP24A1 | 143880 | CYP24A1 126065 | CYP24A1 deficiency is the canonical molecular basis of IIH type 1; may also present later with nephrolithiasis/nephrocalcinosis | (khan2023acaseof pages 2-4, janiec2021longtermoutcomeof pages 1-2, cappellani2022hypercalcemiadueto pages 1-2) | | SLC34A1-related infantile hypercalcemia | NaPi-IIa deficiency–related infantile hypercalcemia; phosphate-wasting infantile hypercalcemia | SLC34A1 | 616963 | SLC34A1 182309 | SLC34A1-related disease overlaps with nephrocalcinosis/urolithiasis phenotypes and may respond to phosphate supplementation | (bizereamoga2023phenotypeofidiopathic pages 6-7, verjans2024antenatalpresentationand pages 6-9) | | SLC34A1 gene disease context | Fanconi renotubular syndrome 2; dominant hypophosphatemic nephrolithiasis/osteoporosis; infantile hypercalcemia 2 | SLC34A1 | 613388 (Fanconi renotubular syndrome 2); 612286 (dominant hypophosphatemic nephrolithiasis/osteoporosis); 616963 (infantile hypercalcemia 2) | SLC34A1 *182309 | Useful differential/allelic context for interpreting SLC34A1 findings in suspected IIH | (bizereamoga2023phenotypeofidiopathic pages 6-7) |

Table: This table summarizes the core naming conventions and OMIM mappings for infantile hypercalcemia and its major Mendelian subtypes. It is useful for harmonizing disease labels across literature and knowledge-base records.

2. Etiology

2.1 Disease causal factors (genetic, mechanistic)

IIH is primarily genetic and mechanistically related to disturbed vitamin D metabolism or renal phosphate transport.

CYP24A1 (Infantile hypercalcemia type 1): - CYP24A1 encodes vitamin D 24-hydroxylase, which inactivates 25(OH)D and 1,25(OH)2D; loss-of-function (LOF) variants reduce catabolism and drive vitamin D-dependent hypercalcemia. (wang2024biallelicandmonoallelic pages 1-2, khan2023acaseof pages 2-4)

SLC34A1 (Infantile hypercalcemia type 2): - SLC34A1 encodes the renal proximal tubule sodium–phosphate cotransporter NaPi-IIa; variants cause phosphate wasting that can increase 1,25(OH)2D and drive hypercalcemia/hypercalciuria. (wang2024biallelicandmonoallelic pages 1-2, bizereamoga2023phenotypeofidiopathic pages 6-7)

2.2 Risk factors

Genetic risk factors

Environmental/iatrogenic triggers

2.3 Protective factors

No robust genetic “protective variants” or environmental protective factors were identified in the retrieved evidence set for IIH specifically.

3. Phenotypes

3.1 Core phenotype spectrum

Across sources, common disease features include: - Laboratory abnormalities: hypercalcemia, suppressed PTH, hypercalciuria, and elevated or inappropriately normal 1,25(OH)2D3. (bizereamoga2023phenotypeofidiopathic pages 1-2, khan2023acaseof pages 2-4) - Kidney manifestations: nephrocalcinosis and/or nephrolithiasis; renal medullary nephrocalcinosis is frequently noted. (wang2024biallelicandmonoallelic pages 1-2, khan2023acaseof pages 2-4) - Infant symptoms/signs: failure to thrive, poor feeding, vomiting, dehydration, hypotonia, lethargy/irritability. A review of neonatal/infant hypercalcemia states hypercalcemia may present with “failure to thrive, poor feeding, constipation, polyuria, irritability, lethargy, seizures and hypotonia.” (gurevich2023idiopathicinfantilehypercalcemia pages 1-2)

3.2 Typical age of onset and course

  • Presentation is often in the first year of life: a systematic review found “Acute hypercalcemia was the typical presentation during the first year of life (76%).” (cappellani2022hypercalcemiadueto pages 1-2)
  • However, disease can manifest beyond infancy (e.g., nephrolithiasis/nephrocalcinosis later in childhood/adulthood), and the 2024 Orphanet Journal of Rare Diseases series emphasizes that “Hypercalcemia may not necessarily present after infancy” and IIH should be considered in older patients with nephrolithiasis/nephrocalcinosis. (wang2024biallelicandmonoallelic pages 1-2)

3.3 Frequency statistics for selected phenotypes

  • In a 2021 long-term follow-up cohort of genetically confirmed infantile hypercalcemia survivors, nephrocalcinosis persisted in 16/18 (88%) on ultrasound. (janiec2021longtermoutcomeof pages 1-2)
  • In the same cohort, GFR <90 mL/min/1.73m² occurred in 77%, and GFR <60 mL/min/1.73m² in 28%; two CYP24A1 patients developed ESRD requiring transplantation. (janiec2021longtermoutcomeof pages 1-2)

3.4 Suggested HPO terms (examples)

The following Human Phenotype Ontology (HPO) terms are consistent with the phenotypes repeatedly described in the retrieved evidence: - Hypercalcemia (HP:0003072) - Hypercalciuria (HP:0002150) - Nephrocalcinosis (HP:0000121) - Nephrolithiasis (HP:0000787) - Suppressed PTH / Hypoparathyroidism (context: low PTH in setting of hypercalcemia; often represented by “Decreased circulating parathyroid hormone level” if available) - Failure to thrive (HP:0001508) - Vomiting (HP:0002013) - Dehydration (HP:0001944) - Hypotonia (HP:0001252)

(bizereamoga2023phenotypeofidiopathic pages 1-2, khan2023acaseof pages 2-4)

Quality of life impact: Not systematically quantified in the retrieved evidence. However, long-term renal morbidity (nephrocalcinosis/CKD) implies substantial chronic health impact. (janiec2021longtermoutcomeof pages 1-2)

4. Genetic / molecular information

4.1 Causal genes

4.2 Inheritance

4.3 Pathogenic variants and recent variant discoveries (2023–2024 emphasis)

  • A 2024 Chinese case series identified novel variants in both genes: “Four novel CYP24A1 variants … and three novel SLC34A1 variants … were found.” (wang2024biallelicandmonoallelic pages 1-2)
  • Antenatal/early-life presentations and hypomorphic alleles: a 2024 report discusses the relatively common SLC34A1 Val91_Ala97del allele and its population frequency (gnomAD European reference data 5.2%), supporting a model of hypomorphic alleles contributing in trans with pathogenic variants in some cases. (verjans2024antenatalpresentationand pages 6-9)

4.4 Modifier genes / epigenetics / chromosomal abnormalities

No validated modifier genes or epigenetic signatures specific to IIH were identified in the retrieved evidence.

5. Environmental information

The dominant non-genetic contributors discussed are iatrogenic/environmental exposures that increase vitamin D signaling or calcium load, including vitamin D supplementation and dietary calcium intake; clinical management commonly includes stopping supplementation and reducing exogenous vitamin D and calcium during acute episodes. (wang2024biallelicandmonoallelic pages 4-7, wang2022cyp24a1andslc34a1 pages 4-6)

No specific toxins/pollution/infectious agents were identified as causal in the retrieved evidence.

6. Mechanism / pathophysiology

6.1 Core causal chains

(A) CYP24A1 LOF → increased active vitamin D → hypercalcemia/hypercalciuria → nephrocalcinosis/CKD

Mechanistic description from 2024: CYP24A1 variants “impair catabolism of 25(OH)D3 and 1,25(OH)2D3, leading to accumulation of active vitamin D,” driving increased intestinal calcium absorption/bone resorption and causing hypercalcemia, hypercalciuria, nephrocalcinosis and suppressed PTH. (wang2024biallelicandmonoallelic pages 1-2)

(B) SLC34A1 dysfunction → renal phosphate wasting → increased 1,25(OH)2D3 → hypercalcemia/hypercalciuria

A 2024 mechanistic summary states SLC34A1 mutations cause renal phosphate wasting and downstream hormonal changes that raise 1,25(OH)2D3, producing hypercalcemia and hypercalciuria. (wang2024biallelicandmonoallelic pages 1-2)

6.2 Biochemical hallmarks

Across reports, the characteristic biochemical signature is PTH-independent hypercalcemia with inappropriate vitamin D metabolite patterns. For example, a 2023 report notes typical features including “raised serum calcium, suppressed PTH, mildly elevated levels of 1,25-dihydroxyvitamin D3, and hypercalciuria.” (khan2023acaseof pages 2-4)

6.3 Suggested GO, CL, and pathway annotations (high-level)

Because the retrieved evidence is primarily clinical genetics, pathway annotations are inferred from the described biology: - GO Biological Process: vitamin D metabolic process; calcium ion homeostasis; phosphate ion homeostasis; regulation of renal tubular transport - Primary cell types (CL): renal proximal tubule epithelial cell (SLC34A1 context); intestinal epithelial cell/enterocyte (for calcium absorption as downstream physiology) - Key organs (UBERON): kidney (renal medulla/proximal tubule), small intestine

(wang2024biallelicandmonoallelic pages 1-2, khan2023acaseof pages 2-4)

7. Anatomical structures affected

7.1 Organ and system involvement

7.2 Suggested UBERON terms (examples)

8. Temporal development

8.1 Onset

8.2 Progression and remission

9. Inheritance and population

9.1 Epidemiology

Disease-level epidemiology is limited in the retrieved evidence. One 2024 report provides an incidence estimate: “an estimated incidence of 1:33,000 live births.” (wang2024biallelicandmonoallelic pages 1-2)

A separate 2023 cohort study in children with kidney hypodysplasia used biochemical criteria for IIH (PTH ≤14 pg/mL and 1,25(OH)2D ≥160 pmol/L) and found 16/139 (11.5%) met these criteria, suggesting a notable contribution of IIH-like physiology in this selected CKD population (without genetic confirmation). (gurevich2023idiopathicinfantilehypercalcemia pages 1-2)

9.2 Penetrance/expressivity

Evidence supports variable expressivity and possible incomplete penetrance, including symptomatic monoallelic carriers. (cappellani2022hypercalcemiadueto pages 1-2, wang2024biallelicandmonoallelic pages 1-2)

9.3 Population genetics / founder or common alleles

The SLC34A1 Val91_Ala97del allele is discussed as common in European ancestry populations (~5.2% in gnomAD European reference), raising the possibility of hypomorphic alleles contributing to disease in trans with a pathogenic variant. (verjans2024antenatalpresentationand pages 6-9)

10. Diagnostics

10.1 Clinical laboratory evaluation

A comprehensive neonatal/infant hypercalcemia evaluation includes calcium and phosphate measurements, PTH, vitamin D metabolites, and urinary indices. A review states diagnosis requires “biochemical measurements, including total and ionised serum calcium, serum phosphate, creatinine and albumin, intact parathyroid hormone (PTH), vitamin D metabolites and urinary calcium, phosphate and creatinine.” (gurevich2023idiopathicinfantilehypercalcemia pages 1-2)

In IIH, a typical diagnostic signature includes hypercalcemia with suppressed PTH and hypercalciuria; 1,25(OH)2D may be elevated or inappropriately normal. (bizereamoga2023phenotypeofidiopathic pages 1-2, khan2023acaseof pages 2-4)

10.2 Imaging

Renal ultrasonography is frequently used to identify nephrocalcinosis and to monitor renal status over time. Persistent nephrocalcinosis is common in long-term follow-up. (janiec2021longtermoutcomeof pages 1-2)

10.3 Genetic testing strategy

Because IIH can be difficult to diagnose clinically, multiple sources emphasize genetic testing. A 2023 case report notes IIH historically was a diagnosis of exclusion but “can now… be diagnosed using CYP24A1 genetic testing.” (khan2023acaseof pages 2-4)

Practical approach: targeted gene panel for hypercalcemia/nephrocalcinosis/nephrolithiasis (including CYP24A1 and SLC34A1) or exome/genome sequencing in complex/antenatal cases. (verjans2024antenatalpresentationand pages 6-9, khan2023acaseof pages 2-4)

10.4 Differential diagnosis

Neonatal/infant hypercalcemia differentials include high-PTH disorders (e.g., neonatal severe hyperparathyroidism, familial hypocalciuric hypercalcemia) vs low-PTH disorders (including IIH and Williams-Beuren syndrome). (gurevich2023idiopathicinfantilehypercalcemia pages 1-2)

11. Outcome / prognosis

11.1 Renal outcomes (key quantitative study)

A 2021 long-term outcome study of genetically confirmed survivors (CYP24A1 or SLC34A1) found substantial CKD burden: - Mean GFR 72 mL/min/1.73m² (range 15–105) - GFR <90 mL/min/1.73m² in 77% - GFR <60 mL/min/1.73m² in 28% - Nephrocalcinosis in 88% - Two patients developed ESRD and underwent renal transplantation (CYP24A1). (janiec2021longtermoutcomeof pages 1-2)

11.2 Prognostic factors

Genotype (biallelic LOF) and degree/duration of hypercalcemia/hypercalciuria and nephrocalcinosis are plausible prognostic indicators, but robust prognostic models were not found in the retrieved evidence.

12. Treatment

12.1 Acute management of severe hypercalcemia (real-world implementations)

Across case series and reviews, acute therapy is consistent with general hypercalcemia management: - Hydration (saline loading) and loop diuretics (e.g., furosemide). (khan2023acaseof pages 2-4, wang2022cyp24a1andslc34a1 pages 4-6) - Escalation strategies include calcitonin, bisphosphonates, and hemodialysis in refractory/life-threatening cases. (wang2024biallelicandmonoallelic pages 4-7, wang2022cyp24a1andslc34a1 pages 4-6)

12.2 Disease-directed / chronic management

12.3 Treatment outcomes and evidence strength

  • A 2022 systematic review found that the “effect size of the most-used medications administered to control hypercalcemia ranged from 18 to 29%,” and concluded therapeutic approaches were variable and did not allow selection of a preferred regimen. (cappellani2022hypercalcemiadueto pages 1-2)

12.4 Suggested MAXO terms (examples)

  • Intravenous fluid therapy / hyperhydration
  • Loop diuretic therapy
  • Bisphosphonate therapy
  • Calcitonin therapy
  • Hemodialysis
  • Dietary calcium restriction
  • Vitamin D supplementation avoidance/cessation
  • Phosphate supplementation
  • Genetic counseling

(wang2024biallelicandmonoallelic pages 4-7, khan2023acaseof pages 2-4, verjans2024antenatalpresentationand pages 6-9)

12.5 Clinical trials

No IIH-specific interventional clinical trials were identified in the retrieved evidence set.

13. Prevention

Because IIH is Mendelian, prevention is largely secondary/tertiary: - Avoidance of triggering exposures (particularly vitamin D and excess calcium) in genetically susceptible individuals. (wang2024biallelicandmonoallelic pages 4-7, bizereamoga2023phenotypeofidiopathic pages 1-2) - Genetic counseling for affected families is recommended in case series. (bizereamoga2023phenotypeofidiopathic pages 4-6) - Long-term surveillance with early preventive measures has been recommended due to CKD risk; the long-term outcome study emphasizes monitoring and “early implementation of preventive measures.” (janiec2021longtermoutcomeof pages 1-2)

14. Other species / natural disease

No naturally occurring veterinary disease analogs were identified in the retrieved evidence set.

15. Model organisms

No model organism studies specific to IIH were included in the retrieved evidence set used for citation; therefore, this section cannot be populated with tool-supported primary evidence here.

2023–2024 “latest research” highlights (selected)

Notes on evidence gaps and constraints

  • The tool-accessible corpus used here did not contain explicit Orphanet, ICD-10/11, MeSH, or MONDO identifiers for IIH; these may exist in external ontology resources (OMIM/Orphanet/MONDO), but cannot be asserted without retrieved-citation support.
  • Model organism evidence, transcriptomics/proteomics/metabolomics signatures, and formal quality-of-life instruments were not found in the retrieved evidence set.

References

  1. (wang2024biallelicandmonoallelic pages 1-2): Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, and Chun-xiu Gong. Biallelic and monoallelic pathogenic variants in cyp24a1 and slc34a1 genes cause idiopathic infantile hypercalcemia. Orphanet Journal of Rare Diseases, Mar 2024. URL: https://doi.org/10.1186/s13023-024-03135-8, doi:10.1186/s13023-024-03135-8. This article has 10 citations and is from a peer-reviewed journal.

  2. (bizereamoga2023phenotypeofidiopathic pages 1-2): Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, and Ramona Stroescu. Phenotype of idiopathic infantile hypercalcemia associated with the heterozygous pathogenic variant of slc34a1 and cyp24a1. Children, 10:1701, Oct 2023. URL: https://doi.org/10.3390/children10101701, doi:10.3390/children10101701. This article has 8 citations.

  3. (khan2023acaseof pages 2-4): Zahid Khan, Gideon Mlawa, Yu-Hsuen Yang, and Bashir Mahamud. A case of delayed diagnosis of idiopathic infantile hypercalcemia due to cyp24a1 mutation: a 10-year journey. Cureus, Aug 2023. URL: https://doi.org/10.7759/cureus.42811, doi:10.7759/cureus.42811. This article has 2 citations.

  4. (verjans2024antenatalpresentationand pages 6-9): Marcelien Verjans, An Hindryckx, Karen Rosier, Koen Devriendt, Djalila Mekahli, and Detlef Bockenhauer. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2. Pediatric nephrology, 39:2911-2913, May 2024. URL: https://doi.org/10.1007/s00467-024-06403-8, doi:10.1007/s00467-024-06403-8. This article has 2 citations and is from a domain leading peer-reviewed journal.

  5. (janiec2021longtermoutcomeof pages 1-2): Agnieszka Janiec, Paulina Halat-Wolska, Łukasz Obrycki, Elżbieta Ciara, Marek Wójcik, Paweł Płudowski, Aldona Wierzbicka, Ewa Kowalska, Janusz B Książyk, Zbigniew Kułaga, Ewa Pronicka, and Mieczysław Litwin. Long-term outcome of the survivors of infantile hypercalcaemia with cyp24a1 and slc34a1 mutations. Nephrology Dialysis Transplantation, 36:1484-1492, Oct 2021. URL: https://doi.org/10.1093/ndt/gfaa178, doi:10.1093/ndt/gfaa178. This article has 39 citations and is from a domain leading peer-reviewed journal.

  6. (cappellani2022hypercalcemiadueto pages 1-2): Daniele Cappellani, Alessandro Brancatella, Riccardo Morganti, Simona Borsari, Fulvia Baldinotti, Maria Adelaide Caligo, Martin Kaufmann, Glenville Jones, Claudio Marcocci, and Filomena Cetani. Hypercalcemia due to cyp24a1 mutations: a systematic descriptive review. European Journal of Endocrinology, 186:137-149, Feb 2022. URL: https://doi.org/10.1530/eje-21-0713, doi:10.1530/eje-21-0713. This article has 55 citations and is from a highest quality peer-reviewed journal.

  7. (bizereamoga2023phenotypeofidiopathic pages 6-7): Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, and Ramona Stroescu. Phenotype of idiopathic infantile hypercalcemia associated with the heterozygous pathogenic variant of slc34a1 and cyp24a1. Children, 10:1701, Oct 2023. URL: https://doi.org/10.3390/children10101701, doi:10.3390/children10101701. This article has 8 citations.

  8. (wang2024biallelicandmonoallelic pages 4-7): Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, and Chun-xiu Gong. Biallelic and monoallelic pathogenic variants in cyp24a1 and slc34a1 genes cause idiopathic infantile hypercalcemia. Orphanet Journal of Rare Diseases, Mar 2024. URL: https://doi.org/10.1186/s13023-024-03135-8, doi:10.1186/s13023-024-03135-8. This article has 10 citations and is from a peer-reviewed journal.

  9. (wang2022cyp24a1andslc34a1 pages 4-6): Qiao Wang, Jia-jia Chen, Li-ya Wei, Min Liu, Wen-jing Li, Chang Su, and Chunxiu Gong. Cyp24a1 and slc34a1 mutations in five cases with idiopathic infantile hypercalcemia. SSRN Electronic Journal, Oct 2022. URL: https://doi.org/10.2139/ssrn.4257523, doi:10.2139/ssrn.4257523. This article has 0 citations.

  10. (gurevich2023idiopathicinfantilehypercalcemia pages 1-2): Evgenia Gurevich, Yael Borovitz, Shelli Levi, Sharon Perlman, and Daniel Landau. Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia. Pediatric Nephrology, 38:1067-1073, Sep 2023. URL: https://doi.org/10.1007/s00467-022-05740-w, doi:10.1007/s00467-022-05740-w. This article has 0 citations and is from a domain leading peer-reviewed journal.

  11. (bizereamoga2023phenotypeofidiopathic pages 4-6): Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, and Ramona Stroescu. Phenotype of idiopathic infantile hypercalcemia associated with the heterozygous pathogenic variant of slc34a1 and cyp24a1. Children, 10:1701, Oct 2023. URL: https://doi.org/10.3390/children10101701, doi:10.3390/children10101701. This article has 8 citations.