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	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-04-25 21:07:13 +02:00 (CEST)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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604 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00035846	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Dube-Syndrom; pneumothorax (2x), multiple fibrofolliculomas	FLCN	FLCN	1	1	Andreas Laner
00035856	-	-	-	-	-	Germany	-	-	-	-	-	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	-	-	-	-	-	BHDS	Birt-Hogg-Dube-Syndrome	FLCN	FLCN	1	1	Andreas Laner
00035859	-	-	-	-	-	Germany	-	-	-	-	-	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	-	-	-	-	-	BHDS	Birt-Hogg-Syndrom	FLCN	FLCN	1	1	Andreas Laner
00107968	21412933-PatC4	PubMed: Benhammou 2011	-	-	-	United States	-	-	-	-	-	BHDS	perifollicular fibroma, bilateral multifocal kidney (chromophobe)	FLCN	FLCN	1	1	Johan den Dunnen
00107974	21412933-PatA	PubMed: Benhammou 2011	-	-	-	United States	-	-	-	-	-	BHDS	fibrofolliculoma, 2 lung cysts, hypothyroidism	FLCN	FLCN	1	1	Johan den Dunnen
00107975	-	-	-	-	-	-	-	-	-	yes	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00107978	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	2	1	Derek Lim
00107979	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00107980	-	PubMed: Bessis 2006 PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax	FLCN	FLCN	1	2	Johan den Dunnen
00107981	-	-	Unpublished. For further informaton please contact submitter (see reference).	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Lieke Gijezen
00107982	-	-	thyroid cancer	F	-	Japan	-	-	-	-	-	BHDS	pulmonary cysts, pneumothorax, thyroid cancer	FLCN	FLCN	1	1	Mitsuko Furuya
00107983	-	PubMed: Cesar 2016	-	-	no	-	-	-	-	-	-	BHDS	, Pneumothorax, lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00107984	-	PubMed: Schmidt 2005 PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00107985	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00107986	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, lung cyst, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00107988	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00107989	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	4/10 lung cysts, 1/10 RCC, 9/10 fibrofolliculoma	FLCN	FLCN	1	10	Johan den Dunnen
00107990	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	BHDS	2 out of 2 lung cysts, 2 out of 2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00107992	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	1/2 lung cysts, 2/2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00107993	-	PubMed: Houweling et al. 2011	-	-	-	-	-	-	-	-	-	BHDS	2/15 pneumothorax, 1/15 RCC, 1/15 fibrofolliculoma	FLCN	FLCN	1	15	Johan den Dunnen
00107994	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00107995	-	PubMed: Kunogi 2010	Mainly Lung manifestations	-	-	Japan	Japanese	-	-	-	-	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	-	-	-	-	BHDS	Deletion of 18 bp in exon 5 (c.332_349del); BHD (renal tumor/lung cysts)	FLCN	FLCN	1	1	Mitsuko Furuya
00107997	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00107998	-	PubMed: Toro 2008, PubMed: Palmirotta 2008	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108005	-	PubMed: Nishii T	2-generation family with 3 affected carriers.	F	?	Japan	-	-	-	-	-	BHDS	lung cysts, pneumothorax, skin tumor; BHD (lung cysts, pneumothorax)	FLCN	FLCN	1	1	Mitsuko Furuya
00108006	-	PubMed: Gunji 2007	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108007	-	PubMed: Leter 2008	Family of 2: 1 male, 1 female	-	-	Netherlands	-	-	-	-	-	BHDS	1/2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00108008	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Maurice van Steensel
00108009	-	-	minimal skin findings	F	?	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108013	-	PubMed: Liu 2014	-	-	no	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	BHDS	, 1/2 lung cysts, 2/4 RCC, 1/4 fibrofolliculoma	FLCN	FLCN	1	4	Johan den Dunnen
00108015	-	PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cyst, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108016	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	Lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108017	-	PubMed: Leter 2008, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	2/4 pneumothorax, 4/4 lung cysts, 4/4 fibrofolliculoma	FLCN	FLCN	1	4	Johan den Dunnen
00108018	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	2/2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00108020	-	PubMed: Leter 2008	-	-	-	-	-	-	-	-	-	BHDS	fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108021	-	PubMed: Nickerson 2002, PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108023	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108024	-	PubMed: Leter 2008	-	-	-	-	-	-	-	-	-	BHDS	2/2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00108025	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	BHDS	PatB2 fibrofolliculomas; PatB3 fibrofolliculomas	FLCN	FLCN	1	2	Johan den Dunnen
00108027	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108030	-	PubMed: Kunogi 2010	Only Lung manifestations	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108031	-	PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108032	-	PubMed: Tommassetti 2011	diagnosed by Tommasetti - Forlì	-	-	-	Italian	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Antonella Maffe
00108034	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	5/5 lung cysts, 4/5 fibrofolliculoma	FLCN	FLCN	1	5	Johan den Dunnen
00108036	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108037	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Lieke Gijezen
00108044	-	PubMed: Kunogi 2010	Mainly Lung manifestations	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108045	-	PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108046	-	PubMed: Woodward 2008 PubMed: Palmirotta 2008 PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	BHDS	Spontaneous Pneumothorax Multiple pulmonary cysts	FLCN	FLCN	2	1	Mitsuko Furuya
00108048	-	PubMed: Nickerson 2002, PubMed: Schmidt 2005, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	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	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108052	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	1/2 pneumothorax, 2/2 lung cysts, 2/2 fibrofolliculoma	FLCN	FLCN	1	2	Johan den Dunnen
00108053	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108054	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Danielle Stevenson
00108055	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	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	-	-	-	-	BHDS	2/2 pneumothorax and lung cysts	FLCN	FLCN	1	2	Johan den Dunnen
00108063	-	PubMed: Kunogi 2010	Mainly Lung manifestations	-	-	Japan	Japanese	-	-	-	-	BHDS	pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108064	21412933-PatG1/G2	PubMed: Benhammou 2011	family, two affecteds	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108066	-	PubMed: Maffe 2010 , PubMed: Tomassetti 2011	-	-	-	-	Italian	-	-	-	-	BHDS	2/4 pneumothoraces, 2/4 lung cysts, 1/4 RCC, 2/4 Fibrofolliculoma	FLCN	FLCN	1	1	Sara Tomassetti
00108067	-	-	-	-	-	Canada;India	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108068	-	-	-	F	-	Japan	-	-	-	-	-	BHDS	pulmonary cysts, pneumothorax	FLCN	FLCN	1	1	Mitsuko Furuya
00108069	-	-	-	F	-	China	-	-	-	-	-	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	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00108078	-	PubMed: van Steensel 2007	-	-	-	-	-	-	-	-	-	BHDS	fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108079	25408992-Pat	PubMed: Pritchett 2015	-	M	-	Somalia	Somalian	-	-	-	-	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	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108081	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Lung cyst, RCC, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108083	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Lung cyst	FLCN	FLCN	1	1	Johan den Dunnen
00108087	-	PubMed: Nickerson 2002, PubMed: Khoo 2002, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	3/4 pneumothorax, 4/4 lung cysts, 1/4 RCC,	FLCN	FLCN	1	4	Johan den Dunnen
00108088	-	PubMed: Murakami	-	-	-	Japan	-	-	-	-	-	BHDS	RCC	FLCN	FLCN	1	1	Johan den Dunnen
00108090	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108091	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	1/3 pneumothorax, 2/2 lung cysts, 2/2 fibrofolliculoma	FLCN	FLCN	1	3	Johan den Dunnen
00108092	-	PubMed: van Steensel 2007	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108093	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Derek Lim
00108095	-	PubMed: Leter 2008 PubMed: Kluijt 2009	2 mutations in this patient	-	-	-	-	-	-	-	-	BHDS	pneumothorax, fibrofolliculoma	FLCN	FLCN	2	1	Johan den Dunnen
00108096	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108099	-	PubMed: Imada 2009	Patient also developed a trichoblastoma	-	-	-	-	-	-	-	-	BHDS	RCC, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108101	-	PubMed: Koga 2009	Japanese family	-	-	-	-	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108102	-	PubMed: Kunogi 2010	Also JBR22,25,26	-	-	Japan	Japanese	-	-	-	-	BHDS	-	FLCN	FLCN	1	1	Johan den Dunnen
00108103	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108104	-	PubMed: Schmidt 2005, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108105	-	PubMed: Nickerson 2002, PubMed: Schmidt 2005, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108107	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	RCC, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108109	-	PubMed: Schmidt 2005, PubMed: Fuertes 2009	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108110	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, lung cyst, fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen
00108112	-	PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Johan den Dunnen
00108113	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	FLCN	FLCN	1	1	Johan den Dunnen

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Global Variome shared LOVD

KCNA1 (potassium voltage-gated channel, shaker-rela...)