ArticleAmerican journal of human genetics2006
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03348644 (Milk Products in the Treatment of Hypophosphatemic Rickets), which is not on this map. Cited by 205 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial
Who cites it
205 citing papers in PubMed, 1 synthesis or guideline pooled it, 483 citations in OpenAlex.
- Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Journal of the American Society of Nephrology : JASN · 2014Pooled it
- Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is StrongJournal of clinical research in pediatric endocrinology · 2026Article
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Phosphate: An Anion Controlling Metabolic Functions.Nutrients · 2026Review
- Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice.Acta physiologica (Oxford, England) · 2026Article
- Review
- Hypophosphatemic rickets: diagnosis and treatment.Archives of endocrinology and metabolism · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.Orphanet journal of rare diseases · 2026Article
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).Bone · 2026Article
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Kidney stone disease: risk factors, pathophysiology and management.Nature reviews. Nephrology · 2025Review
- X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.Calcified tissue international · 2025Article
- Identification of a Novel HomozygousInternational journal of molecular sciences · 2025Article
- Updates on renal phosphate transport.Current opinion in nephrology and hypertension · 2025Review
- Phosphate transporters, candidate genes, and the prosecutor's fallacy.Pediatric nephrology (Berlin, Germany) · 2025Article
- Review
- Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.Pediatric nephrology (Berlin, Germany) · 2025Article
145 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 9 institutions in 5 countries.
Funding
Abstract
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred. HHRH is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histological evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption. We performed a genomewide linkage scan combined with homozygosity mapping, using genomic DNA from a large consanguineous Bedouin kindred that included 10 patients who received the diagnosis of HHRH. The disease mapped to a 1.6-Mbp region on chromosome 9q34, which contains SLC34A3, the gene encoding the renal sodium-phosphate cotransporter NaP(i)-IIc. Nucleotide sequence analysis revealed a homozygous single-nucleotide deletion (c.228delC) in this candidate gene in all individuals affected by HHRH. This mutation is predicted to truncate the NaP(i)-IIc protein in the first membrane-spanning domain and thus likely results in a complete loss of function of this protein in individuals homozygous for c.228delC. In addition, compound heterozygous missense and deletion mutations were found in three additional unrelated HHRH kindreds, which supports the conclusion that this disease is caused by SLC34A3 mutations affecting both alleles. Individuals of the investigated kindreds who were heterozygous for a SLC34A3 mutation frequently showed hypercalciuria, often in association with mild hypophosphatemia and/or elevations in 1,25-dihydroxyvitamin D levels. We conclude that NaP(i)-IIc has a key role in the regulation of phosphate homeostasis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.