Hyperphosphatemic familial tumoral calcinosis

Common Name(s)

Hyperphosphatemic familial tumoral calcinosis, Hyperostosis hyperphosphatemia syndrome

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare condition characterized by higher than normal levels of phospate in the blood (hyperphosphatemia) and abnormal deposits of both phosphate and calcium (calcinosis) in the body's tissues. Calcinosis most commonly appears from early childhood to early adulthood. Calcinosis occurs just under the skin and typically around the joints such as the hips, elbows and shoulders, but can also show up in the soft tissues of the feet, legs, and hands. Sometimes calcinosis can occur within the blood vessels and brain which can be serious. The deposits grow slowly and vary in size and number among different affected individuals. Larger desposits may affect the function of the joint they develop on and appear to be tumors (tumoral) though they are not tumors and are not cancerous.

Other features of HFTC may include corneal calcification (buildup of calcium around front part of eye), angiod streaks (tiny breaks in the tissue at the back of the eye), inflammation of the long bones (diaphysis), or hyperostosis (excessive bone growth) and occasionally abnormalities of the teeth. Males may also have small accumulations of cholesterol in the testicles which usually is not cause for concern. HFTC is seen most commonly in Middle Eastern and African populations and is inherited in an autosomal recessive manner. This means that a person affected by HFTC has two mutated (changed) copies of a gene, one from each parent. A person with only one mutated gene is called a carrier and usually does not experience any symptoms.

A milder form of HFTC is thought to exist called hyperostosis-hyperphosphatmia syndrome (HHS) and only involves higher levels of phosphate in the blood along with excessive bone growth and lesions on the bone. Talk with a genetic counselor or specialist if you have been diagnosed with HFTC or HHS.

Source: Advocacy organizations associated with the condition.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Hyperphosphatemic familial tumoral calcinosis" for support, advocacy or research.

CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Hyperphosphatemic familial tumoral calcinosis" for support, advocacy or research.

CLIMB - Children Living with Inherited Metabolic Diseases

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperphosphatemic familial tumoral calcinosis" returned 3 free, full-text research articles on human participants. First 3 results:

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Author(s): Alexandre R Vieira, Moses Lee, Filippo Vairo, Julio Cesar Loguercio Leite, Maria Cristina Munerato, Fernanda Visioli, Stéphanie Rodrigues D'Ávila, Shih-Kai Wang, Murim Choi, James P Simmer, Jan C-C Hu

Journal: Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Dec;120(6):e235-9.

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 ...

Last Updated: 31 Dec 1969

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Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features.

Author(s): Gianfranco Favia, Maria Grazia Lacaita, Luisa Limongelli, Angela Tempesta, Nicola Laforgia, Angela Pia Cazzolla, Eugenio Maiorano

Journal:

Hyperphosphatemic familial tumoral calcinosis (HFTC) is to a rare autosomal recessive disorder characterized by cutaneous and sub-cutaneous calcified masses, usually adjacent to large joints. The aim of the current study was to report on the clinico-pathological features of a patient ...

Last Updated: 31 Dec 1969

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GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.

Author(s): Ilana Chefetz, Kimitoshi Kohno, Hiroto Izumi, Jouni Uitto, Gabriele Richard, Eli Sprecher

Journal: Biochim. Biophys. Acta. 2009 Jan;1792(1):61-7.

GALNT3 encodes UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosaminyl-transferarase 3 (ppGalNacT3), a glycosyltransferase which has been suggested to prevent proteolysis of FGF23, a potent phosphaturic protein. Accordingly, loss-of-function mutations in GALNT3 cause ...

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 3 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperphosphatemic familial tumoral calcinosis" returned 2 free, full-text review articles on human participants. First 3 results:

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.

Author(s): Silje Rafaelsen, Stefan Johansson, Helge Ræder, Robert Bjerknes

Journal:

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.

Last Updated: 31 Dec 1969

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Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Author(s): Emily G Farrow, Erik A Imel, Kenneth E White

Journal: Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47.

Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus concentrations are relatively tightly controlled by interconnected ...

Last Updated: 31 Dec 1969

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PubMed Review Results at NCBI: 2 review(s)

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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.

Full Results at Genetics Home Reference: 2731 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.

http://www.ncbi.nlm.nih.gov/gtr/conditions/C1876187

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Hyperphosphatemic familial tumoral calcinosis" (open studies are recruiting volunteers) and 0 "Hyperphosphatemic familial tumoral calcinosis" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Hyperphosphatemic familial tumoral calcinosis can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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