Trial reportJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2016
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
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Trial report in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 1 pooled it
6.4field-weighted citation impact, top 3% of its field
What it found
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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.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.Calcified tissue international · 2024Pooled it
- ETV1 Couples Reciprocal FGF23 and PTH Signaling to RenalResearch square · 2026Article
- Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.JBMR plus · 2026Article
- 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
- Causal effects and mediation pathways of circulating plasma proteins on osteoporosis: a two-sample and two-step Mendelian randomization study.Clinical proteomics · 2025Article
- Calcinosis cutis of the lower legs - hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Article
- The Complexities and Challenges of Managing Genetic Causes of Hyperphosphataemia, a Case Report.Journal of paediatrics and child health · 2025Article
- Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded.MedComm · 2025Review
- Calcinosis Circumscripta with Iron Mineralization in an African Green Monkey (Chlorocebus aethiops sabaeus).Journal of the American Association for Laboratory Animal Science : JAALAS · 2025Article
- Article
- Inflammation-Induced Klotho Deficiency: A Possible Key Driver of Chronic Kidney Disease Progression.International journal of general medicine · 2025Review
- Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report.Case reports in medicine · 2025Article
- Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.Journal of the American Dental Association (1939) · 2024Review
- Structural and molecular imaging-based characterization of soft tissue and vascular calcification in hyperphosphatemic familial tumoral calcinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.Molecular genetics and metabolism reports · 2024Article
- Spatial Atlas for Mapping Vascular Microcalcification Using 18F-NaF PET/CT: Application in Hyperphosphatemic Familial Tumoral Calcinosis.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- A Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis-A Case Report.Life (Basel, Switzerland) · 2024Article
- Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
- Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.Hormone research in paediatrics · 2024Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 3 countries.
Mary Scott RamnitzSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Pravitt GourhNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Raphaela Goldbach-ManskyNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Felasfa WodajoMusculoskeletal Tumor Surgery, Virginia Cancer Specialists, Fairfax, VA, USA.
Shoji IchikawaDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Michael J EconsDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Kenneth E WhiteDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Alfredo MolinoloSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Marcus Y ChenNational Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
Jaydira Del RiveroNational Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Patricia Seo-MayerDivision of Nephrology and Hypertension, Pediatric Specialists of Virginia and Georgetown University School of Medicine, Fairfax, VA, USA.
Bita ArabshahiDepartment of Rheumatology, Pediatric Specialists of Virginia, Fairfax, VA, USA.
Malaka B JacksonDepartment of Pediatric Endocrinology, University of South Carolina School of Medicine, Columbia, SC, USA.
Sarah HatabDepartment of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, GA, USA.
Edward McCarthyDepartment of Pathology, Johns Hopkins Hospital, Baltimore, MD, USA.
Lori C GuthrieSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Beth A BrillanteSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Rachel I GafniSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Michael T CollinsSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA. mcollins@mail.nih.gov.
National Institutes of Health · USVirginia Cancer Specialists · USIndiana University – Purdue University Indianapolis · USEmory University · USIndiana University School of MedicineNational Cancer Institute · UANational Institute of Arthritis and Musculoskeletal and Skin Diseases · USNational Institute of Dental and Craniofacial Research · USUniversity of Baltimore · USUniversity of South Carolina · US
Funding
Skeletal Disorders and Mineral Homeostasis SectionZIADE000649 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI COLLINS, MICHAEL · 2009 to 2025
$32.8MCardiovascular CT Clinical ResearchZIAHL006220 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI CHEN, MARCUS · 2017 to 2025
$22.5MPathogenesis, and Outcome of Autoinflammatory Diseases, NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Stills-like Diseases, and other Undifferentiated Autoinflammatory DiseasesZIAAI001220 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI GOLDBACH-MANSKY, RAPHAELA · 2017 to 2025
$22.3MPathogenesis and treatment studies in patients with NOMID and related diseasesZIAAR041138 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI GOLDBACH-MANSKY, RAPHAELA · 2009 to 2016
$8.6MCLINICAL AND GENETIC ANALYSIS OF ADHRR01AR042228 · NIAMS · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI ECONS, MICHAEL J · 1999 to 2014
$4.3MClinical Studies Of Skeletal DiseasesZ01DE000649 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI COLLINS, MICHAEL · 1995 to 2008
$2.7MIntramural NIH HHS Z01 DE000649NIAMS NIH HHS R01 AR042228
Abstract
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is functional deficiency of, or resistance to, intact FGF23 (iFGF23), causing hyperphosphatemia, increased renal tubular reabsorption of phosphorus (TRP), elevated or inappropriately normal 1,25-dihydroxyvitamin D
Indexed as
CalcinosisHyperostosisHyperostosis, Cortical, CongenitalHyperphosphatemiaAdolescentAdultChildCohort StudiesFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGlucuronidaseHumansKlotho ProteinsMaleN-AcetylgalactosaminyltransferasesFGF23 protein, humanFibroblast Growth Factor-23Fibroblast Growth FactorsGlucuronidaseKlotho ProteinsN-AcetylgalactosaminyltransferasesPolypeptide N-acetylgalactosaminyltransferaseFAMILIAL TUMORAL CALCINOSISFIBROBLAST GROWTH FACTOR 23HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROMEHYPERPHOSPHATEMIA
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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.