MCID: BRT002
MIFTS: 51

Birt-Hogg-Dube Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases

Aliases & Classifications for Birt-Hogg-Dube Syndrome

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Aliases & Descriptions for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 50 11 46 23 13 68 12 48 37
Fibrofolliculomas with Trichodiscomas and Acrochordons 46 24 52 68
Birt-Hogg-Dubé Syndrome 69 22 24 52
Bhd 46 23 24 68
Hornstein-Knickenberg Syndrome 46 24
 
Birt Hogg Dube Syndrome 46 25
Hornstein-Birt-Hogg-Dubé Syndrome 24
Multiple Fibrofolliculomas 66
Bhd Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
fibrofolliculomas with trichodiscomas and acrochordons:
Inheritance: Autosomal dominant; Age of onset: Adult

HPO:

62
birt-hogg-dube syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 135150
Disease Ontology11 DOID:0050676
Orphanet52 ORPHA122
MESH via Orphanet38 D058249
UMLS via Orphanet67 C0346010
MedGen35 C0346010
MeSH37 D058249

Summaries for Birt-Hogg-Dube Syndrome

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NIH Rare Diseases:46 Birt-hogg-dube syndrome (bhds) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. fibrofolliculomas are a type of benign skin tumor specific to bhds. they typically occur on the face, neck, and upper torso. most people with bhds also have multiple cysts in both lungs that can be seen on high-resolution chest ct scan. while these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. bhds is caused by mutations in the flcn gene. the condition is inherited in an autosomal dominant fashion. last updated: 7/1/2015

MalaCards based summary: Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to renal cell carcinoma and hip dysplasia, beukes type, and has symptoms including abnormality of the skin, emphysema and multiple lipomas. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways are Endometrial cancer and Integrated Breast Cancer Pathway. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are muscle and respiratory system.

UniProtKB/Swiss-Prot:68 Birt-Hogg-Dube syndrome: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients.

Genetics Home Reference:24 Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.

OMIM:50 Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney... (135150) more...

GeneReviews summary for NBK1522

Related Diseases for Birt-Hogg-Dube Syndrome

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Diseases related to Birt-Hogg-Dube Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma30.2BHD, FH, FLCN, MTOR, PTEN
2hip dysplasia, beukes type11.4
3bobble-head doll syndrome11.3
4pneumothorax, primary spontaneous10.7
5pneumothorax10.6
6renal oncocytoma10.5
7chromophobe renal cell carcinoma10.5
8deafness, autosomal recessive 310.4BHD, FLCN
9colonic pseudo-obstruction10.4CTNNB1, PTCH1
10transient hypogammaglobulinemia10.3FH, FLCN
11beckwith-wiedemann syndrome10.3
12lymphangioleiomyomatosis10.3
13incontinentia pigmenti10.3
14lipoma10.3
15ciliopathy10.3
16tuberous sclerosis10.3
17melanoma10.3
18langerhans-cell histiocytosis10.3
19angiomyolipoma10.3
20histiocytosis10.3
21angiolipoma10.3
22adenoma10.3
23parathyroid adenoma10.3
24lung disease10.3
25bronchus adenoma10.3FLCN, FNIP1
26multilocular clear cell renal cell carcinoma10.3FH, FLCN
27congenital fibrosarcoma10.2FLCN, MTOR
28prostatic urethral cancer10.2FH, FLCN
29melanotic medulloblastoma10.2CTNNB1, PTCH1, PTEN
30mismatch repair cancer syndrome10.2CTNNB1, PTEN
31herpes simplex encephalitic 610.1CTNNB1, PTCH1, PTEN
32foramen magnum meningioma10.1CTNNB1, PTCH1
33chorea, hereditary benign10.1CTNNB1, PTCH1, PTEN
34hemochromatosis type 210.1CTNNB1, MTOR
35tenosynovitis of foot and ankle10.0FLCN, MTOR
36tumor predisposition syndrome10.0FH, FLCN, PTEN
37small cell neuroendocrine carcinoma10.0CTNNB1, PTCH1
38pericarditis10.0CTNNB1, PTCH1, PTEN
39papillary ependymoma10.0MTOR, PTEN
40mental retardation, autosomal recessive 499.9CYLD, PTCH1
41brachyolmia9.8CTNNB1, MTOR, PTEN
42bone squamous cell carcinoma9.8CTNNB1, PTCH1
43cystadenoma9.5FH, FLCN, MTOR, PTEN
44intracranial structure hemangioma9.4CTNNB1, CYLD, PTCH1, PTEN
45thyrotoxic periodic paralysis 26.6BHD, CTNNB1, CYLD, FH, FLCN, FNIP1

Graphical network of the top 20 diseases related to Birt-Hogg-Dube Syndrome:



Diseases related to birt-hogg-dube syndrome

Symptoms for Birt-Hogg-Dube Syndrome

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Symptoms by clinical synopsis from OMIM:

135150

Clinical features from OMIM:

135150

Symptoms:

 52 (show all 10)
  • multiple lipomas
  • emphysema
  • pneumothorax
  • medullary thyroid carcinoma
  • parathyroid adenoma
  • renal cell carcinoma
  • abnormal retinal pigmentation
  • skin tags
  • pulmonary sequestration
  • papule

HPO human phenotypes related to Birt-Hogg-Dube Syndrome:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 emphysema hallmark (90%) HP:0002097
3 multiple lipomas typical (50%) HP:0001012
4 abnormality of retinal pigmentation typical (50%) HP:0007703
5 neoplasm of the gastrointestinal tract occasional (7.5%) HP:0007378
6 renal neoplasm occasional (7.5%) HP:0009726
7 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
8 salivary gland neoplasm occasional (7.5%) HP:0100684
9 neoplasm of the parathyroid gland occasional (7.5%) HP:0100733
10 renal cyst HP:0000107
11 multiple lipomas HP:0001012
12 abnormality of the abdomen HP:0001438
13 abnormality of the hair HP:0001595
14 spontaneous pneumothorax HP:0002108
15 renal cell carcinoma HP:0005584
16 fibrofolliculoma HP:0030436

UMLS symptoms related to Birt-Hogg-Dube Syndrome:


leser-trélat sign

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

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Drugs for Birt-Hogg-Dube Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
sirolimusPhase 3, Phase 2186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
2
MiconazolePhase 3, Phase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3
EverolimusPhase 3, Phase 21863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
4
lactitolPhase 2325585-86-43871
Synonyms:
4-O-b-D-Galactopyranosyl-D-glucitol, 9CI
E966
Emportal
 
Floralac
Importal
Oponaf
Portolac

Interventional clinical trials:

idNameStatusNCT IDPhase
1Topical Rapamycin for FibrofolliculomasCompletedNCT00928798Phase 3
2Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal CancerRecruitingNCT02504892Phase 2
3Prevalence of Spontaneous Pneumothorax in BHDNot yet recruitingNCT02916992Phase 1
4Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney CancerRecruitingNCT00033137

Search NIH Clinical Center for Birt-Hogg-Dube Syndrome


Cochrane evidence based reviews: birt-hogg-dube syndrome

Genetic Tests for Birt-Hogg-Dube Syndrome

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Genetic tests related to Birt-Hogg-Dube Syndrome:

id Genetic test Affiliating Genes
1 Birt-Hogg-Dub Syndrome25
2 Birt-Hogg-Dube Syndrome23 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

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MalaCards organs/tissues related to Birt-Hogg-Dube Syndrome:

34
Skin, Lung, Kidney, Thyroid, Salivary gland

Animal Models for Birt-Hogg-Dube Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Birt-Hogg-Dube Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CTNNB1, FNIP1, MTOR, PTCH1, PTEN
2MP:00053888.1CTNNB1, CYLD, MTOR, PTCH1, PTEN
3MP:00020067.9CTNNB1, CYLD, FLCN, FNIP1, PTCH1, PTEN
4MP:00053877.5CTNNB1, CYLD, FLCN, FNIP1, MTOR, PTCH1
5MP:00053977.3CTNNB1, CYLD, FLCN, FNIP1, MTOR, PTCH1
6MP:00053677.1CTNNB1, FH, FLCN, FNIP1, MTOR, PTCH1
7MP:00053846.9CTNNB1, CYLD, FH, FLCN, FNIP1, MTOR
8MP:00053766.1CTNNB1, CYLD, FH, FLCN, FNIP1, FNIP2

Publications for Birt-Hogg-Dube Syndrome

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Articles related to Birt-Hogg-Dube Syndrome:

(show all 39)
idTitleAuthorsYear
1
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. (26877139)
2016
2
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. (27642565)
2016
3
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. (27643397)
2016
4
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. (26625667)
2015
5
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. (25970555)
2015
6
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. (25059020)
2014
7
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
8
Birt-Hogg-Dube syndrome is a novel ciliopathy. (23784378)
2013
9
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. (23223565)
2013
10
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. (23904515)
2013
11
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. (23050938)
2012
12
Birt-Hogg-Dube syndrome. (22906666)
2012
13
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. (21466061)
2011
14
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. (21538689)
2011
15
Thoracic CT findings in Birt-Hogg-Dube syndrome. (21257886)
2011
16
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. (20413710)
2010
17
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. (19785621)
2010
18
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. (20392792)
2010
19
Association between Birt Hogg Dube syndrome and cancer predisposition. (20392993)
2010
20
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. (19659657)
2009
21
Dermoscopic features of Birt-Hogg-Dube syndrome. (19841421)
2009
22
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. (19101904)
2008
23
BHD mutations, clinical and molecular genetic investigations of Birt- Hogg-Dube syndrome: a new series of 50 families and a review of published reports. (18234728)
2008
24
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. (17903168)
2007
25
Cystic lung disease in Birt-Hogg-Dube syndrome. (17505035)
2007
26
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. (16928562)
2006
27
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. (15852235)
2005
28
Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. (15746620)
2005
29
Birt-Hogg-Dube syndrome. (15748585)
2004
30
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12771781)
2003
31
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12352424)
2002
32
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg- Dube syndrome. (12204536)
2002
33
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. (11836379)
2002
34
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. (12358810)
2002
35
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. (11737429)
2001
36
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. (11176677)
2001
37
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. (9452372)
1997
38
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. (8734663)
1996
39
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. (7712645)
1995

Variations for Birt-Hogg-Dube Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Birt-Hogg-Dube Syndrome:

68
id Symbol AA change Variation ID SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029rs199643834

Clinvar genetic disease variations for Birt-Hogg-Dube Syndrome:

5 (show all 59)
id Gene Variation Type Significance SNP ID Assembly Location
1FLCNNM_144997.5(FLCN): c.499C> T (p.Gln167Ter)single nucleotide variantPathogenicrs587782069GRCh37Chr 17, 17127355: 17127355
2FLCNNM_144997.5(FLCN): c.446delG (p.Gly149Alafs)deletionLikely pathogenicrs727504645GRCh37Chr 17, 17127408: 17127408
3FLCNNM_144997.5(FLCN): c.250-1G> Asingle nucleotide variantPathogenicrs786202081GRCh37Chr 17, 17129637: 17129637
4FLCNNM_144997.5(FLCN): c.469_471delTTC (p.Phe157del)deletionLikely pathogenicrs786203218GRCh37Chr 17, 17127383: 17127385
5FLCNNM_144997.5(FLCN): c.1252delC (p.Leu418Trpfs)deletionPathogenicrs864622651GRCh38Chr 17, 17216428: 17216428
6FLCNNM_144997.5(FLCN): c.553T> C (p.Ser185Pro)single nucleotide variantLikely pathogenicrs876657646GRCh38Chr 17, 17223987: 17223987
7FLCNNM_144997.5(FLCN): c.1177-5_1177-3delCTCdeletionLikely pathogenicrs767671406GRCh37Chr 17, 17119820: 17119822
8FLCNNM_144997.5(FLCN): c.59delT (p.Phe20Serfs)deletionPathogenicrs876658390GRCh37Chr 17, 17131393: 17131393
9FLCNNM_144997.5(FLCN): c.779+1G> Tsingle nucleotide variantPathogenicrs758175953GRCh37Chr 17, 17125814: 17125814
10FLCNNM_144997.5(FLCN): c.113delG (p.Ser38Ilefs)deletionPathogenicrs878855212GRCh37Chr 17, 17131339: 17131339
11FLCNNM_144997.5(FLCN): c.1219delA (p.Ser407Alafs)deletionPathogenicrs878855213GRCh37Chr 17, 17119775: 17119775
12FLCNNM_144997.5(FLCN): c.1539-2A> Gsingle nucleotide variantLikely pathogenicrs878855214GRCh37Chr 17, 17117172: 17117172
13FLCNNM_144997.5(FLCN): c.347dupA (p.Leu117Alafs)duplicationPathogenicrs776896550GRCh38Chr 17, 17226225: 17226225
14FLCNNM_144997.5(FLCN): c.584delG (p.Gly195Glufs)deletionPathogenicrs878855217GRCh38Chr 17, 17223956: 17223956
15FLCNNM_144997.5(FLCN): c.780-1G> Csingle nucleotide variantLikely pathogenicrs878855218GRCh37Chr 17, 17124943: 17124943
16FLCNNM_144997.5(FLCN): c.828delTinsAGA (p.Ala277Glufs)indelPathogenicrs878855220GRCh37Chr 17, 17124894: 17124894
17FLCNNM_144997.5(FLCN): c.987delC (p.Ser330Profs)deletionPathogenicrs878855221GRCh38Chr 17, 17219094: 17219094
18FLCNNM_144997.5(FLCN): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicGRCh38Chr 17, 17228135: 17228135
19FLCNNM_144997.5(FLCN): c.453delG (p.Phe152Serfs)deletionPathogenicGRCh37Chr 17, 17127401: 17127401
20FLCNNM_144997.5(FLCN): c.632_633delAGinsC (p.Glu211Alafs)indelPathogenicGRCh37Chr 17, 17125961: 17125962
21FLCNNM_144997.5(FLCN): c.634C> T (p.Gln212Ter)single nucleotide variantPathogenicrs558699420GRCh37Chr 17, 17125960: 17125960
22FLCNNM_144997.5(FLCN): c.735_738delAAGT (p.Ser246Metfs)deletionPathogenicGRCh37Chr 17, 17125856: 17125859
23FLCNNM_144997.5(FLCN): c.752G> A (p.Trp251Ter)single nucleotide variantPathogenicGRCh37Chr 17, 17125842: 17125842
24FLCNNM_144997.5(FLCN): c.851delT (p.Val284Alafs)deletionPathogenicGRCh37Chr 17, 17124871: 17124871
25FLCNNM_144997.5(FLCN): c.853C> T (p.Gln285Ter)single nucleotide variantPathogenicGRCh37Chr 17, 17124869: 17124869
26FLCNNM_144997.5(FLCN): c.875T> G (p.Leu292Ter)single nucleotide variantPathogenicGRCh38Chr 17, 17219206: 17219206
27FLCNNM_144997.5(FLCN): c.927dupA (p.Ala310Serfs)duplicationPathogenic
28FLCNNM_144997.5(FLCN): c.1036_1043delTTCAAGTC (p.Phe346Profs)deletionPathogenicGRCh38Chr 17, 17219038: 17219045
29FLCNNM_144997.5(FLCN): c.1098G> A (p.Trp366Ter)single nucleotide variantPathogenicGRCh37Chr 17, 17120461: 17120461
30FLCNNM_144997.5(FLCN): c.1124_1139del16 (p.Ile375Thrfs)deletionPathogenicGRCh37Chr 17, 17120420: 17120435
31FLCNNM_144997.5(FLCN): c.1286dupA (p.His429Glnfs)duplicationPathogenic
32FLCNNM_144997.5(FLCN): c.1300+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 17119693: 17119693
33FLCNNM_144997.5(FLCN): c.1318_1334dup17 (p.Leu449Glnfs)duplicationPathogenicGRCh38Chr 17, 17215283: 17215299
34FLCNNM_144997.5(FLCN): c.1389C> A (p.Tyr463Ter)single nucleotide variantPathogenicrs137852929GRCh38Chr 17, 17215228: 17215228
35FLCNNM_144997.5(FLCN): c.1429C> T (p.Arg477Ter)single nucleotide variantPathogenicGRCh38Chr 17, 17215188: 17215188
36FLCNNM_144997.5(FLCN): c.1432+1G> Asingle nucleotide variantPathogenicrs755959303GRCh37Chr 17, 17118498: 17118498
37FLCNNM_144997.5(FLCN): c.1487_1490dupCTGT (p.Asp498Cysfs)duplicationPathogenicGRCh37Chr 17, 17118347: 17118350
38FLCNNM_144997.5(FLCN): c.1528delG (p.Glu510Serfs)deletionPathogenicGRCh38Chr 17, 17214995: 17214995
39FLCNNM_144997.5(FLCN): c.1528_1530delGAG (p.Glu510del)deletionLikely pathogenicGRCh37Chr 17, 17118307: 17118309
40FLCNNM_144997.5(FLCN): c.1532G> A (p.Trp511Ter)single nucleotide variantPathogenicGRCh37Chr 17, 17118305: 17118305
41FLCNNM_144997.5(FLCN): c.1579C> T (p.Arg527Ter)single nucleotide variantLikely pathogenicGRCh37Chr 17, 17117130: 17117130
42FLCNNM_144997.5(FLCN): c.1579_1580insA (p.Arg527Glnfs)insertionPathogenicrs753009073GRCh37Chr 17, 17117129: 17117130
43FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119709: 17119709
44FLCNNM_144997.5(FLCN): c.1285delC (p.His429Thrfs)deletionPathogenicrs80338683GRCh37Chr 17, 17119709: 17119709
45FLCNFLCN, 2-BP DEL, 632AG AND 1-BP INS, 632CindelPathogenic
46FLCNFLCN, 28-BP DUP, NT923duplicationPathogenic
47FLCNNM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter)single nucleotide variantPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
48FLCNNM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs)deletionPathogenicrs750146811GRCh37Chr 17, 17131214: 17131217
49FLCNFLCN, IVS4AS, A-G, -2single nucleotide variantPathogenic
50FLCNFLCN, 2-BP DEL/2-BP INS, NT610indelPathogenic
51FLCNNM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del)deletionLikely pathogenic, Pathogenicrs398124529GRCh37Chr 17, 17118313: 17118315
52FLCNNM_144997.5(FLCN): c.1533G> A (p.Trp511Ter)single nucleotide variantPathogenicrs398124530GRCh37Chr 17, 17118304: 17118304
53FLCNNM_144997.5(FLCN): c.250-2A> Gsingle nucleotide variantPathogenicrs398124533GRCh37Chr 17, 17129638: 17129638
54FLCNNM_144997.5(FLCN): c.296delA (p.Asp99Valfs)deletionPathogenicrs398124534GRCh37Chr 17, 17129590: 17129590
55FLCNNM_144997.5(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs)indelPathogenicrs398124535GRCh37Chr 17, 17129566: 17129567
56FLCNNM_144997.5(FLCN): c.346C> T (p.Gln116Ter)single nucleotide variantPathogenicrs398124536GRCh37Chr 17, 17129540: 17129540
57FLCNNM_144997.5(FLCN): c.610_611delGCinsTA (p.Ala204Ter)indelPathogenicrs398124538GRCh37Chr 17, 17127243: 17127244
58FLCNNM_144997.5(FLCN): c.890_893delAAAG (p.Glu297Alafs)deletionPathogenicrs398124541GRCh37Chr 17, 17122502: 17122505
59FLCNNM_144997.5(FLCN): c.927_954dup28 (p.Gly319Serfs)duplicationPathogenicrs398124542GRCh37Chr 17, 17122441: 17122468

Expression for genes affiliated with Birt-Hogg-Dube Syndrome

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Search GEO for disease gene expression data for Birt-Hogg-Dube Syndrome.

Pathways for genes affiliated with Birt-Hogg-Dube Syndrome

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GO Terms for genes affiliated with Birt-Hogg-Dube Syndrome

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Cellular components related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1midbodyGO:00304969.0CYLD, FLCN, PTCH1

Biological processes related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of pro-B cell differentiationGO:200097310.4FLCN, FNIP1
2renal system developmentGO:007200110.2CTNNB1, PTCH1
3negative regulation of TOR signalingGO:003200710.2FLCN, FNIP1
4branching involved in ureteric bud morphogenesisGO:000165810.1CTNNB1, PTCH1
5positive regulation of protein complex assemblyGO:003133410.1FNIP1, FNIP2
6cardiac muscle tissue developmentGO:004873810.0MTOR, PTEN
7negative regulation of cell sizeGO:00457929.9MTOR, PTEN
8regulation of osteoclast differentiationGO:00456709.9CTNNB1, MTOR
9heart morphogenesisGO:00030079.9MTOR, PTCH1
10dorsal/ventral pattern formationGO:00099539.9CTNNB1, PTCH1
11in utero embryonic developmentGO:00017019.9CTNNB1, FLCN, PTCH1
12cell fate determinationGO:00017099.8CTNNB1, PTCH1
13regulation of myelinationGO:00316419.8CTNNB1, MTOR
14regulation of mitotic cell cycleGO:00073469.7CYLD, PTCH1
15negative regulation of protein kinase B signalingGO:00518989.7FLCN, PTEN
16regulation of protein phosphorylationGO:00019329.7FLCN, FNIP1, FNIP2
17response to estradiolGO:00323559.6CTNNB1, PTCH1, PTEN
18positive regulation of protein phosphorylationGO:00019349.6FLCN, FNIP1, MTOR
19social behaviorGO:00351769.5MTOR, PTEN
20TOR signalingGO:00319299.5FLCN, FNIP1, MTOR
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.4CTNNB1, FLCN, FNIP1, FNIP2, PTCH1

Molecular functions related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.1CTNNB1, FLCN, PTCH1
2protein kinase bindingGO:00199018.3CTNNB1, CYLD, MTOR, PTEN

Sources for Birt-Hogg-Dube Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet