Birt-Hogg-Dube syndrome
Information
- Disease name
- Birt-Hogg-Dube syndrome
- Disease ID
- DOID:0050676
- Description
- "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11." [url:https\://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| FLCN | 17 | 17,212,212 | 17,237,168 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03040115 | Completed | Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome | August 2015 | August 2019 | |
| NCT06330324 | Enrolling by invitation | Reproductive Options in Inherited Skin Diseases | January 1, 2024 | September 1, 2026 | |
| NCT03749980 | Recruiting | MyVHL: Patient Natural History Study | January 2012 | December 2028 | |
| NCT05534854 | Recruiting | Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes | October 1, 2022 | August 1, 2025 | |
| NCT06330350 | Recruiting | Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | January 1, 2024 | December 31, 2025 | |
| NCT02504892 | Terminated | Phase 2 | Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer | July 21, 2015 | April 17, 2018 |
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:2322
- Cross Reference ID (Disease Ontology)
- MESH:D058249
- Cross Reference ID (Disease Ontology)
- MIM:135150
- MeSH unique ID (MeSH (Medical Subject Headings))
- D058249