Orpha Number: 53715
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Bone pain | Very frequent (present in 80%-99% of cases) |
| Calcification of muscles | Very frequent (present in 80%-99% of cases) |
| Periarticular subcutaneous nodules | Very frequent (present in 80%-99% of cases) |
| Erythema | Frequent (present in 30%-79% of cases) |
| Hyperostosis | Frequent (present in 30%-79% of cases) |
| Skin rash | Frequent (present in 30%-79% of cases) |
| Abnormality of the dentition | Occasional (present in 5%-29% of cases) |
| Abnormality of the palate | Occasional (present in 5%-29% of cases) |
| Gingivitis | Occasional (present in 5%-29% of cases) |
| Hepatomegaly | Occasional (present in 5%-29% of cases) |
| Hoarse voice | Occasional (present in 5%-29% of cases) |
| Hyperhidrosis | Occasional (present in 5%-29% of cases) |
| Hypopigmented skin patches | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Nephrocalcinosis | Occasional (present in 5%-29% of cases) |
| Splenomegaly | Occasional (present in 5%-29% of cases) |
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.
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Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities
Wednesday, June 17, 2015
Location: NIH Natcher Conference Center,
Bethesda,
MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.
Contact: Dr. Karlyne Reilly,(301) 846-7518, reillyk@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
The following diseases are related to Familial tumoral calcinosis. If you have a question about any of these diseases, you can contact GARD.
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