Disease #01331

Official abbreviation BHDS
Name Birt-Hogg-Dube syndrome (BHDS, multiple fibrofolliculomas)
OMIM ID 135150
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 131
Phenotype entries for this disease 42
Associated with 1 gene FLCN
Associated tissues -
Disease features -
Remarks -


Individuals

131 entries on 2 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 - 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00107981 - - Unpublished.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 - FLCN FLCN 1 1 Johan den Dunnen
00107984 - PubMed: Schmidt 2005 PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107985 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00107986 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - 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 - FLCN FLCN 1 1 Johan den Dunnen
00107990 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107991 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107992 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107993 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107994 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00107995 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS - 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, PubMed: Leter 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108007 - PubMed: van Steensel 2007, PubMed: Leter 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 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 1 Johan den Dunnen
00108014 - PubMed: Naf 2015 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108015 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108016 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108017 - PubMed: Leter 2008, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108018 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108020 - PubMed: Leter 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108021 - PubMed: Nickerson 2002, PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108022 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108023 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108024 - PubMed: Leter 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108025 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 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 - FLCN FLCN 1 1 Johan den Dunnen
00108031 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS - 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 - FLCN FLCN 1 1 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 - FLCN FLCN 1 1 Johan den Dunnen
00108045 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108046 - PubMed: Woodward 2008 PubMed: Palmirotta 2008 PubMed: Kluger 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 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 - FLCN FLCN 1 1 Johan den Dunnen
00108051 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108052 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108053 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108054 - - - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Danielle Stevenson
00108055 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108056 - PubMed: Schmidt 2005, PubMed: Gad 2007, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108062 - PubMed: Kunogi 2010 Only Lung manifestations in patient - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108063 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS - 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 - FLCN FLCN 1 1 Sara Tomassetti
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 Caucasian, Japanese - 0 - - BHDS - FLCN FLCN 1 1 Derek Lim
00108078 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS - 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 - FLCN FLCN 1 1 Johan den Dunnen
00108083 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108087 - PubMed: Nickerson 2002, PubMed: Khoo 2002, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108088 - PubMed: Nickerson 2002, PubMed: Khoo, PubMed: Kawasaki, PubMed: Lamberti, PubMed: Murakami, PubMed: van Steensel, PubMed: Leter, PubMed: Toro see also Kluger et al 2009 (PMID17496196) Gunji et al 2007 (PMID17496196) patient with PSP - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108090 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108091 - PubMed: Toro 2008, PubMed: Kluger 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 2 Johan den Dunnen
00108092 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS - 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 - 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 - 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 - FLCN FLCN 1 1 Johan den Dunnen
00108104 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108105 - PubMed: Nickerson 2002, PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108106 - PubMed: van Steensel 2007 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108107 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108109 - PubMed: Schmidt 2005, PubMed: Fuertes 2009 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108110 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108112 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108113 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
00108114 - PubMed: So 2009 Chinese Family - - - - - 0 - - BHDS - FLCN FLCN 1 1 Johan den Dunnen
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