ReviewCurrent osteoporosis reports2015
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
Review in Current osteoporosis reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.International journal of molecular sciences · 2026Article
- A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of theKidney medicine · 2026Article
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Disorders of phosphate homeostasis in children, part 2: hypophosphatemic and hyperphosphatemic disorders.Pediatric radiology · 2022Review
- The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation inJournal of clinical research in pediatric endocrinology · 2022Article
- A novelFrontiers in endocrinology · 2022Article
- Congenital Conditions of Hypophosphatemia in Children.Calcified tissue international · 2021Review
- Research Models for Studying Vascular Calcification.International journal of molecular sciences · 2020Review
- Article
- Juxta-articular tumoral calcinosis associated with the temporomandibular joint: a case report and concise review.BMC oral health · 2019Review
- Pharmacological management of X-linked hypophosphataemia.British journal of clinical pharmacology · 2019Review
- Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Review
- Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Article
- Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.European journal of human genetics : EJHG · 2018Article
- A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report.International journal of surgery case reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyperphosphatemic familial tumoral calcinosis (hFTC) is a rare disorder of phosphate metabolism defined by hyperphosphatemia and ectopic calcifications in various locations. To date, recessive mutations have been described in three genes involving phosphate metabolism: FGF23, GALNT3, and α-Klotho, all of which result in the phenotypic presentation of hFTC. These mutations result in either inadequate intact fibroblast growth factor-23 (FGF23) secretion (FGF23 or GALNT3) or resistance to FGF23 activity at the fibroblast growth factor receptor/α-Klotho complex (α-Klotho). The biochemical consequence of limitations in FGF23 activity includes increased renal tubular reabsorption of phosphate, hyperphosphatemia, and increased production of 1,25-dihydroxyvitamin D. The resultant ectopic calcifications can be painful and debilitating. Medical treatments are targeted toward decreasing intestinal phosphate absorption or increasing phosphate excretion; however, results have been variable and generally limited. Treatments that would increase FGF23 levels or signaling would more appropriately target the genetic etiologies of this disease and perhaps be more effective.
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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.