National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hyperphosphatemic familial tumoral calcinosis


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Other Names:
HFTC; Tumoral calcinosis, hyperphosphatemic, familial
Categories:
This disease is grouped under:

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin 0000951
Angioid streaks of the fundus 0001102
Autosomal recessive inheritance 0000007
Calcinosis
Calcium buildup in soft tissues of body
0003761
Conjunctival whitish salt-like deposits 0007799
Decreased renal tubular phosphate excretion 0005572
Hyperostosis
Bone overgrowth
0100774
Hyperphosphatemia
High blood phosphate levels
0002905
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Increased renal tubular phosphate reabsorption 0005571
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Pulp stones 0003771
Subperiosteal bone formation 0031485
Taurodontia 0000679
Vascular calcification 0004934
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Hyperphosphatemic familial tumoral calcinosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperphosphatemic familial tumoral calcinosis. Click on the link to view a sample search on this topic.

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