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) |
| Abnormality of the skin | 90% |
| Emphysema | 90% |
| Abnormality of retinal pigmentation | 50% |
| Multiple lipomas | 50% |
| Neoplasm of the gastrointestinal tract | 7.5% |
| Neoplasm of the parathyroid gland | 7.5% |
| Neoplasm of the thyroid gland | 7.5% |
| Renal neoplasm | 7.5% |
| Salivary gland neoplasm | 7.5% |
| Abnormality of the abdomen | - |
| Abnormality of the hair | - |
| Autosomal dominant inheritance | - |
| Fibrofolliculoma | - |
| Renal cell carcinoma | - |
| Renal cyst | - |
| Spontaneous pneumothorax | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Second International Birt-Hogg-Dube Symposium
Thursday, April 22, 2010
Location: Washington Marriott at Metro Center,
Washington,
DC
Description: Goals of the symposium included working together to (1) gather information/data to support new clinical trials with drug/gene therapies based upon in vitro and in vivo research results; (2) generate important reagents, including antibodies, animal models, cell lines, tumor samples, recombinant proteins, etc., for distribution to the Birt-Hogg-Dube (BHD) research community; and (3) develop fruitful collaborations among the researchers and clinicians in attendance.
Contact: W. Marston Linehan, linehanm@mail.nih.govlinehanm@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
- 223KB)
- 239KB)
- 23KB)
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. Submit a new question
My husband is a survivor of chromophobe renal cell carcinoma (RCC). In addition, he has a lung hamartoma and bladder lipoma. Should genetic testing for Birt-Hogg-Dube syndrome (BHDS) be considered in light of his cancer history and other findings? See answer
What is the best way to treat the cysts that develop on the lungs as a result of this condition? See answer
How should patients with Birt Hogg Dube syndrome be monitored (i.e. for kidney tumors)? See answer
