Disease #01331 (BHDS (Birt-Hogg-Dube syndrome (BHDS, multiple fibrofolliculomas)), OMIM:135150)

Official abbreviation BHDS
Name Birt-Hogg-Dube syndrome (BHDS, multiple fibrofolliculomas)
OMIM ID 135150
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 604
Phenotype entries for this disease 546
Associated with 1 gene FLCN
Associated tissues -
Disease features -
Remarks -


Individuals

604 entries on 7 pages. Showing entries 1 - 100.
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00035846 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dube-Syndrom; pneumothorax (2x), multiple fibrofolliculomas FLCN FLCN 1 1 Andreas Laner
00035856 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma FLCN FLCN 1 1 Andreas Laner
00035858 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dube-Syndrome FLCN FLCN 1 1 Andreas Laner
00035859 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma FLCN FLCN 1 1 Andreas Laner
00035860 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Syndrom FLCN FLCN 1 1 Andreas Laner
00107968 21412933-PatC4 PubMed: Benhammou 2011 - - - United States - - 0 - - BHDS perifollicular fibroma, bilateral multifocal kidney (chromophobe) FLCN FLCN 1 1 Johan den Dunnen
00107974 21412933-PatA PubMed: Benhammou 2011 - - - United States - - 0 - - BHDS fibrofolliculoma, 2 lung cysts, hypothyroidism FLCN FLCN 1 1 Johan den Dunnen
00107975 - - - - - - - - 0 yes - BHDS - FLCN FLCN 1 1 Derek Lim
00107978 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 2 1 Derek Lim
00107979 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00107980 - PubMed: Bessis 2006 PubMed: Kluger 2009 - - - - - - 0 - - BHDS Pneumothorax FLCN FLCN 1 2 Johan den Dunnen
00107981 - - Unpublished. For further informaton please contact submitter (see reference). - - - - - 0 - - BHDS - FLCN FLCN 1 1 Lieke Gijezen
00107982 - - thyroid cancer F - Japan - - 0 - - BHDS pulmonary cysts, pneumothorax, thyroid cancer FLCN FLCN 1 1 Mitsuko Furuya
00107983 - PubMed: Cesar 2016 - - no - - - 0 - - BHDS , Pneumothorax, lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00107984 - PubMed: Schmidt 2005 PubMed: Toro 2008 - - - - - - 0 - - BHDS Fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00107985 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00107986 - PubMed: Toro 2008 - - - - - - 0 - - BHDS Pneumothorax, lung cyst, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00107988 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00107989 - PubMed: Toro 2008 - - - - - - 0 - - BHDS 4/10 lung cysts, 1/10 RCC, 9/10 fibrofolliculoma FLCN FLCN 1 10 Johan den Dunnen
00107990 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 2 out of 3 pneumothoraces, 1 out of 3 RCC, 1 out of 3 fibrofolliculoma FLCN FLCN 1 3 Johan den Dunnen
00107991 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 2 out of 2 lung cysts, 2 out of 2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00107992 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 1/2 lung cysts, 2/2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00107993 - PubMed: Houweling et al. 2011 - - - - - - 0 - - BHDS 2/15 pneumothorax, 1/15 RCC, 1/15 fibrofolliculoma FLCN FLCN 1 15 Johan den Dunnen
00107994 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00107995 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cyst FLCN FLCN 1 1 Johan den Dunnen
00107996 - PubMed: Nagashima Int J Urol. 2011 Renal tumor/lung cysts. 3-generation family with 1 affected and 2 non-penetrant carriers. F - Japan Japanese - 0 - - BHDS Deletion of 18 bp in exon 5 (c.332_349del); BHD (renal tumor/lung cysts) FLCN FLCN 1 1 Mitsuko Furuya
00107997 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00107998 - PubMed: Toro 2008, PubMed: Palmirotta 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108005 - PubMed: Nishii T 2-generation family with 3 affected carriers. F ? Japan - - 0 - - BHDS lung cysts, pneumothorax, skin tumor; BHD (lung cysts, pneumothorax) FLCN FLCN 1 1 Mitsuko Furuya
00108006 - PubMed: Gunji 2007 - - - - - - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108007 - PubMed: Leter 2008 Family of 2: 1 male, 1 female - - Netherlands - - 0 - - BHDS 1/2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00108008 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Maurice van Steensel
00108009 - - minimal skin findings F ? - - - 0 - - BHDS Multiple lung cysts, recurrent spontaneous pneumothorax, family history of recurrent spontaneous pneumothorax (mother) and clear cell RCC (maternal grandmother); Birt-Hogg-Dube FLCN FLCN 1 1 Todd Kolb
00108011 - PubMed: Menko 2012 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Myrovlytis Trust
00108012 - - Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108013 - PubMed: Liu 2014 - - no - - - 0 - - BHDS Mainly lung cysts. One affected family member with pneumothorax. FLCN FLCN 1 4 Johan den Dunnen
00108014 - PubMed: Naf 2015 Family of 4 members - - - - - 0 - - BHDS , 1/2 lung cysts, 2/4 RCC, 1/4 fibrofolliculoma FLCN FLCN 1 4 Johan den Dunnen
00108015 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cyst, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108016 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS Lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108017 - PubMed: Leter 2008, PubMed: Toro 2008 - - - - - - 0 - - BHDS 2/4 pneumothorax, 4/4 lung cysts, 4/4 fibrofolliculoma FLCN FLCN 1 4 Johan den Dunnen
00108018 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS 2/2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00108020 - PubMed: Leter 2008 - - - - - - 0 - - BHDS fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108021 - PubMed: Nickerson 2002, PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 5 out of 8 lung cysts, 1 out of 8 RCC, 7 out of 8 fibrofolliculoma FLCN FLCN 1 8 Johan den Dunnen
00108022 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108023 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108024 - PubMed: Leter 2008 - - - - - - 0 - - BHDS 2/2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00108025 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 4/4 lung cysts, 3/4 RCC, 4/4 fibrofolliculoma FLCN FLCN 1 4 Johan den Dunnen
00108026 21412933-PatB2/B3 PubMed: Benhammou 2011 family, 2 affecteds - - United States - - 0 - - BHDS PatB2 fibrofolliculomas; PatB3 fibrofolliculomas FLCN FLCN 1 2 Johan den Dunnen
00108027 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108030 - PubMed: Kunogi 2010 Only Lung manifestations - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108031 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108032 - PubMed: Tommassetti 2011 diagnosed by Tommasetti - Forlì - - - Italian - 0 - - BHDS - FLCN FLCN 1 1 Antonella Maffe
00108034 - PubMed: Toro 2008 - - - - - - 0 - - BHDS 5/5 lung cysts, 4/5 fibrofolliculoma FLCN FLCN 1 5 Johan den Dunnen
00108036 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108037 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Lieke Gijezen
00108044 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108045 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108046 - PubMed: Woodward 2008 PubMed: Palmirotta 2008 PubMed: Kluger 2009 - - - - - - 0 - - BHDS 2/4 pneumothoraces, 3/4 lung cysts, 4/4 fibrofolliculomas FLCN FLCN 1 4 Johan den Dunnen
00108047 - PubMed: Furuya M and Nakatani Y 2012 - F yes Japan - - 0 - - BHDS Spontaneous Pneumothorax Multiple pulmonary cysts FLCN FLCN 2 1 Mitsuko Furuya
00108048 - PubMed: Nickerson 2002, PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS 4/12 pneumothorax, 7/12 lung cysts, 2/12 RCC, 11/12 fibrofolliculoma FLCN FLCN 1 12 Johan den Dunnen
00108051 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108052 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 1/2 pneumothorax, 2/2 lung cysts, 2/2 fibrofolliculoma FLCN FLCN 1 2 Johan den Dunnen
00108053 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS Fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108054 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Danielle Stevenson
00108055 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS 8/9 pneumothorax, 7/9 lung cysts, 1/9 RCC, 6/9 fibrofolliculoma FLCN FLCN 1 9 Johan den Dunnen
00108056 - PubMed: Schmidt 2005, PubMed: Gad 2007, PubMed: Toro 2008 - - - - - - 0 - - BHDS 1/5 pneumothorax, 4/5 lung cysts, 3/5 RCC, 5/5 fibrofolliculoma FLCN FLCN 1 5 Johan den Dunnen
00108062 - PubMed: Kunogi 2010 Only Lung manifestations in patient - - Japan Japanese - 0 - - BHDS 2/2 pneumothorax and lung cysts FLCN FLCN 1 2 Johan den Dunnen
00108063 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108064 21412933-PatG1/G2 PubMed: Benhammou 2011 family, two affecteds - - United States - - 0 - - BHDS PatG10 fibrofolliculomas, bilateral multifocal kidney (chromophobe); PatG11 fibrofolliculomas, lung cysts, bilateral multifocal kidney, papillary thyroid cancer FLCN FLCN 1 2 Johan den Dunnen
00108065 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108066 - PubMed: Maffe 2010 , PubMed: Tomassetti 2011 - - - - Italian - 0 - - BHDS 2/4 pneumothoraces, 2/4 lung cysts, 1/4 RCC, 2/4 Fibrofolliculoma FLCN FLCN 1 1 Sara Tomassetti
00108067 - - - - - Canada;India - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108068 - - - F - Japan - - 0 - - BHDS pulmonary cysts, pneumothorax FLCN FLCN 1 1 Mitsuko Furuya
00108069 - - - F - China - - 0 - - BHDS Clear-cell renal carcinoma, lung bullae, skin papules FLCN FLCN 1 1 Kenan Gong
00108077 - PubMed: Lim 2010, PubMed: Kunogi 2010 - - - Japan white, Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00108078 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108079 25408992-Pat PubMed: Pritchett 2015 - M - Somalia Somalian - 0 - - BHDS see paper; ..., history of hypertension, presented with multiple asymptomatic bumps on face (progressively over time, denied personal or family history of similar lesions, renal cell carcinoma, spontaneous pneumothorax, other pulmonary disease; physical examination revealed diffuse flesh-colored, dome-shaped and pedunculated papules on face, neck, upper back, chest, arms, and axillary folds; histopathologic analysis of biopsy specimens from left jawline and left forearm consistent with fibrofolliculoma and trichodiscoma FLCN FLCN 1 1 Johan den Dunnen
00108080 - PubMed: Lim 2010, PubMed: Nahorski 2011 Family identified to have another pathogenic mutation in FLCN - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108081 - PubMed: Toro 2008 - - - - - - 0 - - BHDS Lung cyst, RCC, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108083 - PubMed: Toro 2008 - - - - - - 0 - - BHDS Lung cyst FLCN FLCN 1 1 Johan den Dunnen
00108087 - PubMed: Nickerson 2002, PubMed: Khoo 2002, PubMed: Toro 2008 - - - - - - 0 - - BHDS 3/4 pneumothorax, 4/4 lung cysts, 1/4 RCC, FLCN FLCN 1 4 Johan den Dunnen
00108088 - PubMed: Murakami - - - Japan - - 0 - - BHDS RCC FLCN FLCN 1 1 Johan den Dunnen
00108090 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108091 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS 1/3 pneumothorax, 2/2 lung cysts, 2/2 fibrofolliculoma FLCN FLCN 1 3 Johan den Dunnen
00108092 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS Fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108093 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108095 - PubMed: Leter 2008 PubMed: Kluijt 2009 2 mutations in this patient - - - - - 0 - - BHDS pneumothorax, fibrofolliculoma FLCN FLCN 2 1 Johan den Dunnen
00108096 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108099 - PubMed: Imada 2009 Patient also developed a trichoblastoma - - - - - 0 - - BHDS RCC, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108101 - PubMed: Koga 2009 Japanese family - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108102 - PubMed: Kunogi 2010 Also JBR22,25,26 - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108103 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108104 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS Lung cysts, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108105 - PubMed: Nickerson 2002, PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS 2/9 pneumothorax, 2/9 lung cysts, 1/9 RCC, 7/9 fibrofolliculoma FLCN FLCN 1 9 Johan den Dunnen
00108106 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS Fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108107 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS RCC, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108109 - PubMed: Schmidt 2005, PubMed: Fuertes 2009 - - - - - - 0 - - BHDS Pneumothorax, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108110 - PubMed: Toro 2008 - - - - - - 0 - - BHDS Pneumothorax, lung cyst, fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
00108112 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS Pneumothorax, lung cysts FLCN FLCN 1 1 Johan den Dunnen
00108113 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS Fibrofolliculoma FLCN FLCN 1 1 Johan den Dunnen
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