|
BHD
MCID: BRT002
|
Birt-hogg-dube Syndrome malady |
|
Sources: 17Genetics Home Reference, 30NIH Rare Diseases, 33OMIM, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
Genetics Home Reference: Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have a higher chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, people with Birt-Hogg-Dubé syndrome have an increased risk of developing cancerous or noncancerous kidney tumors and possibly tumors in other organs and tissues.17
MalaCards: Birt-hogg-dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to benign tumors and renal carcinoma. An important gene associated with Birt-hogg-dube Syndrome is FLCN (folliculin), and among its related pathways are Basal cell carcinoma and Endometrial cancer. The compounds cyclopamine and bicalutamide have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and skin, and related mouse phenotypes are taste/olfaction and pigmentation. NIH Rare Diseases: Birt-Hogg-Dube syndrome is a rare complex disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Affected individuals are also predisposed to developing benign cysts in the lungs, pneumothorax, and cancerous or noncancerous tumors of the kidneys.Birt Hogg Dube syndrome is caused by30 OMIM: 135150 GeneReviews summary for bhd |
|
Sources: 6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 33OMIM, 8DISEASES, 32Novoseek , 15GeneReviews, 17Genetics Home Reference, 16GeneTests, 43UMLS See all sources |
|
Sources: 33OMIM See all sources |
Clinical features from OMIM: 135150
|
|
Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for birt-hogg-dube syndrome Drug clinical trials:Search ClinicalTrials for birt-hogg-dube syndrome Search NIH Clinical Center for birt-hogg-dube syndrome Search CenterWatch for birt-hogg-dube syndrome |
|
Sources: 16GeneTests See all sources |
|
Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to birt-hogg-dube syndrome:22Kidney, Lung, Skin
|
|
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to birt-hogg-dube syndrome:25
|
|
Sources: 35PubMed See all sources |
Articles related to birt-hogg-dube syndrome:(show all 16)
|
|
Sources: 1BioGPS See all sources |
  |
|
Sources: 20KEGG, 41Thomson Reuters, 10EMD Millipore, 3Cell Signaling Technology, 36QIAGEN See all sources |
Pathways related to birt-hogg-dube syndrome according to GeneDecks:(show all 11)
|
|
Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 34PharmGKB See all sources |
Compounds related to birt-hogg-dube syndrome according to GeneDecks:
|
|
Sources: 12Gene Ontology See all sources |