Birt-Hogg-Dube syndrome
| Disorder | |
|---|---|
| OMIM #: | #135150 (Click to access OMIM database) |
| Disorder: | Birt-Hogg-Dube syndrome |
| Also known as: | Hornstein-Knickenberg syndrome fibrofolliculomas with trichodiscomas and acrochordons |
| Clinical | |
| Phenotype: | lung cysts, bullous disease, spontaneous pneumothorax, fibrofolliculomas, hair follicle hamartomas, acrochordons, kidney tumors, colonic polyps, colorectal adenomas, parotid oncocytomas, lipomas |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | FLCN |
| Base Change: | c.59delT |
| Amino Acid Change: | p.Phe20Serfs*35 |
| Last updated: | 2022-11-02 |
| References |
|---|
| Pierce CW, Hull PR, Lemire EG, Marciniuk DD. (2011) Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax. CMAJ Jun 14;183(9):E601-3. PubMed ID: 21398229 |
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