Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Current osteoporosis reports - 1 Apr 2015

Folsom Lisal J, Imel Erik A

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcinosis
Share to Diphosphonates
Share to Fibroblast Growth Factor-23

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblast Growth Factors

Share to Glucuronidase

Share to Klotho Proteins

Share to N-Acetylgalactosaminyltransferases

Share to Polypeptide N-acetylgalactosaminyltransferase

Source

Identifiers

PMID: 25656441
DOI: 10.1007/s11914-015-0254-3

Genes

FGF23
GALNT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.PMID 25656441Read ↗

Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.Semantic proximity Read ↗

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.Semantic proximity Read ↗

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.Semantic proximity Read ↗

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.Semantic proximity Read ↗

A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.Semantic proximity Read ↗

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.Semantic proximity Read ↗

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.Semantic proximity Read ↗

Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer.Semantic proximity Read ↗

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.Semantic proximity Read ↗

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.Semantic proximity Read ↗

Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?Semantic proximity Read ↗

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.