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) |
| Autoimmunity | Very frequent (present in 80%-99% of cases) |
| Dyspnea | Very frequent (present in 80%-99% of cases) |
| Gastroesophageal reflux | Very frequent (present in 80%-99% of cases) |
| Narrow foramen obturatorium | Very frequent (present in 80%-99% of cases) |
| Oliguria | Very frequent (present in 80%-99% of cases) |
| Pulmonary infiltrates | Very frequent (present in 80%-99% of cases) |
| Arthralgia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Carious teeth | Frequent (present in 30%-79% of cases) |
| Dyspareunia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Flexion |
Frequent (present in 30%-79% of cases) |
| Malabsorption | Frequent (present in 30%-79% of cases) |
| Osteolysis | Frequent (present in 30%-79% of cases) |
| Pulmonary fibrosis | Frequent (present in 30%-79% of cases) |
| Skin ulcer | Frequent (present in 30%-79% of cases) |
| Telangiectasia of the skin | Frequent (present in 30%-79% of cases) |
| Xerostomia | Frequent (present in 30%-79% of cases) |
| Abnormal bowel sounds | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Hypertensive crisis | Occasional (present in 5%-29% of cases) |
| Nausea and vomiting | Occasional (present in 5%-29% of cases) |
| Pulmonary arterial |
Occasional (present in 5%-29% of cases) |
| Renal insufficiency | Occasional (present in 5%-29% of cases) |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Strategic Planning for Pulmonary Vascular Disease Research Monday, March 8, 2010 -
Tuesday, March 9, 2010
Location:
Bethesda,
Maryland
Description: Formulation of strategy for advancing clinical research in pulmonary arterial hypertension (PAH) was a high priority of this conference. Plans are to make participants' recommendations available via publication in a peer-reviewed journal. Initiatives on future research were considered.
Contact: Timothy M. Moore, M.D., Ph.D., Tim.Moore@nih.govTim.Moore@nih.gov
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
- 101KB)
- 80KB)
- 36KB)
The following diseases are related to Diffuse cutaneous systemic sclerosis. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
