April 2010). "Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts ... Kennedy JC, Khabibullin D, Henske EP (April 2016). "Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The ... Folliculin (FLCN) is also associated with Birt-Hogg-Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in ... "Birt-Hogg-Dube syndrome is a novel ciliopathy". Human Molecular Genetics. 22 (21): 4383-97. doi:10.1093/hmg/ddt288. PMC 3792695 ...
Von Hippel-Lindau disease Birt-Hogg-Dube syndrome Tolvanen, J.; Uimari, O.; Ryynanen, M.; Aaltonen, L. A.; Vahteristo, P. (2012 ... Differential diagnosis of this condition includes the Birt-Hogg-Dubé syndrome and tuberous sclerosis. As the skin lesions are ... The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate. The ... Reed syndrome and Hereditary leiomyomatosis and renal cell cancer at the Genetic and Rare Diseases Information Center (GARD) ( ...
List of cutaneous conditions Tuberous sclerosis Multiple endocrine neoplasia type 1 Birt-Hogg-Dube syndrome "Picture of ... and Birt-Hogg-Dube syndrome. The following are examples of these cutaneous angiofibromas and their alternate names. Fibrous ... in individuals with Birt-Hogg-Dube syndrome. Pearly penile papules are also termed papillae coronae glandis and hirsutoid ... tumors under multiple finger and/or toe nails of individuals with tuberous sclerosis or in one case the Birt-Hogg-Dube syndrome ...
Cohen, P. R.; Kurzrock, R. (1995-01-01). "Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, ... Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. There are multiple genetic lesions ... Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, ... Robertson, JC; Jorcyk, CL; Oxford, JT (15 May 2018). "DICER1 Syndrome: DICER1 Mutations in Rare Cancers". Cancers. 10 (5): 143 ...
One individual with another rare genetic disease that has similarities to tuberous sclerosis, the Birt-Hogg-Dube syndrome, has ... "Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a ...
2008), "BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: A new series of 50 families ... Birt-Hogg-Dubé syndrome (BHD), also Hornstein-Birt-Hogg-Dubé syndrome, Hornstein-Knickenberg syndrome, and fibrofolliculomas ... PMID 20817385 Wikimedia Commons has media related to Birt-Hogg-Dubé syndrome. BHDSyndrome.org Cancer.Net: Birt-Hogg-Dubé ... "Birt-Hogg-Dube syndrome, BHD", Online Mendelian Inheritance in Man, Johns Hopkins University, archived from the original on 10 ...
Birt-Hogg-Dube syndrome, hyperparathyroidism-jaw tumor syndrome, familial papillary thyroid carcinoma, von Hippel-Lindau ... These syndromes most commonly affect tissues which have not been invaded by the cancer. The most common PNSs seen in people ... RCC is also associated with a number of paraneoplastic syndromes (PNS) which are conditions caused by either the hormones ... Renal cell carcinoma is one of the cancers most strongly associated with paraneoplastic syndromes, most often due to ectopic ...
Birt-Hogg-Dube syndrome - bispecific antibody - bispecific monoclonal antibody - bisphosphonate - bizelesin - BL22 immunotoxin ... FAMMM syndrome - Fanconi anemia - Fanconi syndrome - FAP - fatty-replaced breast tissue - fazarabine - fecal occult blood test ... multiple endocrine neoplasia syndrome - multiple endocrine neoplasia type 1 syndrome - multiple myeloma - multiple sclerosis - ... Peutz-Jeghers syndrome - phagocyte - pharmacokinetics - phase I trial - phase I/II trial - phase II trial - phase II/III trial ...
These two proteins are involved in Tuberous Sclerosis Complex and Birt-Hogg-Dubé syndrome (BHD) syndromes respectively. His ... Sager RA, Woodford MR, Shapiro O, Mollapour M, Bratslavsky G. Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dube: ... "Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis". Oncotarget. 9 (31): 22220-22229. ...