Hyperphosphatemic familial tumoral calcinosis
Common Name(s)
Hyperphosphatemic familial tumoral calcinosis, Hyperostosis hyperphosphatemia syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Hyperphosphatemic familial tumoral calcinosis" for support, advocacy or research.
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.
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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 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.
http://www.climb.org.uk/Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
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.
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:
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 ...
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 ...
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 ...
To view other free, full-text articles on human participants, please click on the link below.
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:
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.
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 ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/KL
https://ghr.nlm.nih.gov/gene/GALNT3
https://ghr.nlm.nih.gov/gene/FGF23
https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification
https://ghr.nlm.nih.gov/gene/SAMD9
https://ghr.nlm.nih.gov/condition/desmoid-tumor
https://ghr.nlm.nih.gov/condition/familial-cylindromatosis
https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome
https://ghr.nlm.nih.gov/condition/ewing-sarcoma
https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma
https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma
https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor
https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome
https://ghr.nlm.nih.gov/condition/bap1-tumor-predisposition-syndrome
https://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism
https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis
https://ghr.nlm.nih.gov/condition/familial-erythrocytosis
https://ghr.nlm.nih.gov/condition/dicer1-syndrome
https://ghr.nlm.nih.gov/condition/systemic-scleroderma
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

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.