Familial Hyperphosphatemic Tumoral Calcinosis

A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. Hyperphosphatemia is caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. OMIM: 211900

Also Known As:

Tumoral Calcinosis, Hyperphosphatemic, Familial; Calcinosis, Tumoral, With Hyperphosphatemia; Hyperphosphatemia Hyperostosis; Hyperphosphatemia Hyperostosis Syndrome; Hyperphosphatemia Tumoral Calcinosis; Hyperphosphatemic Familial Tumoral Calcinosis; Lipocalcinogranulomatosis; Morbus Teutschlaender; Primary Hyperphosphatemic Tumoral Calcinosis; Teutschlaender Disease, Familial; Tumoral Calcinosis, Primary Hyperphosphatemic

Networked: 39 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hyperphosphatemia
2.	Hyperostosis
3.	Hyperostosis-hyperphosphatemia syndrome
4.	Hypoparathyroidism
5.	Calcinosis

Experts

1.	Gafni, Rachel I: 4 articles (01/2022 - 12/2018)
2.	Fukumoto, Seiji: 4 articles (01/2021 - 10/2009)
3.	Collins, Michael T: 3 articles (01/2022 - 12/2018)
4.	Richard, Gabriele: 3 articles (01/2009 - 01/2005)
5.	Sprecher, Eli: 3 articles (01/2009 - 01/2005)
6.	Hartley, Iris R: 2 articles (01/2022 - 05/2021)
7.	Lee, Alisa E: 2 articles (05/2021 - 01/2020)
8.	Ten Hagen, Kelly G: 2 articles (05/2021 - 01/2020)
9.	Econs, Michael J: 2 articles (12/2018 - 10/2014)
10.	Ichikawa, Shoji: 2 articles (12/2018 - 10/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Hyperphosphatemic Tumoral Calcinosis:

1.	Acetazolamide (Diamox)FDA LinkGeneric 06/01/2014 - "Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms." 01/01/2022 - "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 in FGF23" 06/25/2021 - "Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate."
2.	sodium thiosulfate FDA Link 01/01/2016 - "Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?" 06/25/2021 - "Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate."
3.	Sevelamer (RenaGel)FDA Link 06/25/2021 - "Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate."
4.	Phosphates (Orthophosphate)IBA 07/01/2019 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes involved in phosphate homeostasis and characterized by high serum phosphate concentration and occurrence of ectopic calcifications. " 10/30/2009 - "In contrast, deficient action of FGF23 causes familial hyperphosphatemic tumoral calcinosis with enhanced renal tubular phosphate reabsorption. " 01/01/2007 - "Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. " 11/01/2005 - "Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. " 01/01/2022 - "PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34."
5.	Fibroblast Growth Factor-23IBA 01/01/2023 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants. " 02/01/2021 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in progressive calcification of soft tissues. " 01/01/2020 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance. " 09/01/2018 - "Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature." 01/01/2018 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes encoding FGF23 or its regulators, and leading to functional deficiency or resistance to fibroblast growth factor 23 (FGF23). "
6.	Hormones (Hormone)IBA 12/01/2016 - "Loss-of-function mutations in this hormone cause hyperphosphatemic familial tumoral calcinosis (HFTC). " 10/01/2014 - "Thus, inactivating GALNT3 mutations render FGF23 susceptible to proteolysis, thereby reducing circulating intact hormone levels and leading to hyperphosphatemic familial tumoral calcinosis. " 01/01/2016 - "Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). "
7.	Uridine Diphosphate (UDP)IBA 01/01/2012 - "Impaired O-glycosylation of FGF23 due to the lack of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase 3 (GALNT3) or due to certain homozygous FGF23 mutations results in reduced secretion of intact FGF23 and leads to familial hyperphosphatemic tumoral calcinosis. " 12/01/2015 - "Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.(1) In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. "
8.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation." 06/01/2014 - "Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by enhanced renal phosphate absorption, hyperphosphatemia, and tumor-like extraosseous calcifications due to inactivating mutations in FGF23 or associated proteins. "
9.	Peptides (Polypeptides)IBA 01/01/2019 - "Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). " 01/01/2012 - "Impaired O-glycosylation of FGF23 due to the lack of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase 3 (GALNT3) or due to certain homozygous FGF23 mutations results in reduced secretion of intact FGF23 and leads to familial hyperphosphatemic tumoral calcinosis. "
10.	CalciumIBA 12/15/2017 - "Giantin-knockout zebrafish exhibit hyperostosis and ectopic calcium deposits, recapitulating phenotypes of hyperphosphatemic familial tumoral calcinosis, a disease caused by mutations in GALNT3. " 04/01/1996 - "Analysis suggests three pathogenetically distinct subtypes of tumoral calcinosis: (1) Primary normophosphatemic tumoral calcinosis: patients have normal serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; (2) primary hyperphosphatemic tumoral calcinosis: patents have elevated serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; and (3) secondary tumoral calcinosis: patients have a concurrent disease capable of causing soft tissue calcification. "