Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Birt–Hogg–Dubé_syndrome> ?p ?o }
- Birt–Hogg–Dubé_syndrome abstract "Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung (spontaneous pneumothorax). Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.Any of these conditions that occurs in a family can indicate a diagnosis of Birt–Hogg–Dubé syndrome, though it is only confirmed by a genetic test for a mutation in the FLCN gene, which codes for the protein folliculin. Though its function is not fully understood, it appears to be a tumor suppressor gene that restricts cell growth and division. Versions of FLCN have been found in other animals, including fruit flies, German shepherds, rats, and mice. The disease was discovered in 1977, but the connection with FLCN was not elucidated until 2002, after kidney cancer, collapsed lungs, and pulmonary cysts were all definitively connected to BHD.Birt–Hogg–Dubé syndrome can manifest similarly to other diseases, which must be ruled out when making a diagnosis. These include tuberous sclerosis, which causes skin lesions similar to fibrofolliculomas, and Von Hippel-Lindau disease, which causes hereditary kidney cancers. Once diagnosed, people with BHD are treated preventatively, with monitoring of kidneys and lungs using medical imaging. Fibrofolliculomas can be removed surgically and pneumothorax and kidney cancer are treated according to the normal standard of care.".
- Birt–Hogg–Dubé_syndrome omim "135150".
- Birt–Hogg–Dubé_syndrome thumbnail Birt–Hogg–Dubé_syndrome.jpg?width=300.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink pmidlookup?view=long&pmid=20392993.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink Educational+resources.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink bhd-foundation.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink br.fcgi?book=famcan&part=bhd_appendix.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink viewDetail.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink www.BHDSyndrome.org.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink birt-hogg-dub%C3%A9-syndrome.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink NBK1522.
- Birt–Hogg–Dubé_syndrome wikiPageExternalLink NBK45326.
- Birt–Hogg–Dubé_syndrome wikiPageID "1638257".
- Birt–Hogg–Dubé_syndrome wikiPageLength "38678".
- Birt–Hogg–Dubé_syndrome wikiPageOutDegree "189".
- Birt–Hogg–Dubé_syndrome wikiPageRevisionID "681435699".
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink AMP-activated_protein_kinase.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Acrochordon.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Alpha1_antitrypsin_deficiency_panniculitis.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Alveolar_cells.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Amino_acid.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Angiofibroma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Angiolipoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Auricle_(anatomy).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Autosomal_dominant.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Axilla.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Basal-cell_carcinoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Basal_cell_carcinoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Benign_tumor.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Bleb_(medicine).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Breast.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Buccal_mucosa.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Bulla_(dermatology).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink C-terminus.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink CT_scan.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Carboxy-terminus.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Carcinogenesis.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Category:Epidermal_nevi,_neoplasms,_cysts.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Category:Rare_diseases.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cellular_metabolism.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chromophobe.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chromophobe_cell.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chromophobe_renal_carcinoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chromosome_17.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chromosome_17_(human).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Chronic_obstructive_pulmonary_disease.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Clear_cell_hyperplasia.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Clear_cell_renal_cell_carcinoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Collagenoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Colorectal_cancer.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Colorectal_polyp.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Colorectal_polyps.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Comedo.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Computed_tomography.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Connective_tissue_nevus.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Conserved_sequence.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cowden_syndrome.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Curettage.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cutaneous_condition.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cutaneous_focal_mucinosis.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cyst.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cystadenocarcinoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cystic_fibrosis.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Cytosine.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink De_novo_mutation.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Dermatofibrosarcoma_protuberans.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Dominance_(genetics).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Drosophila_melanogaster.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Ehlers-Danlos_syndrome.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Ehlers–Danlos_syndrome.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Emphysema.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Endometriosis.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Endometrium.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Epidermoid_cyst.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Epithelium.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Exon.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Eyelid.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Fibrofolliculoma.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Flecked_chorioretinopathy.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Folliculin.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Frameshift_mutation.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Genetic_disorder.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Genetic_test.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Genetic_testing.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink German_Shepherd.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink German_shepherd.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Hair_disc.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Hair_follicle.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Haploinsufficiency.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Hereditary_leiomyomatosis_and_renal_cell_cancer_syndrome.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Hereditary_papillary_renal_cancer.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Heredity.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Heterogeneous.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Histology.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Homogeneity_and_heterogeneity.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Homology_(biology).
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Isoform.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Keratin.
- Birt–Hogg–Dubé_syndrome wikiPageWikiLink Kidney.