BHD
MCID: BRT002
MIFTS: 52

Birt-Hogg-Dube Syndrome (BHD) malady

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

Aliases & Classifications for Birt-Hogg-Dube Syndrome

About this section

Aliases & Descriptions for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 52 11 48 24 70 12 50 39 13
Fibrofolliculomas with Trichodiscomas and Acrochordons 48 25 54 70
Bhd 48 24 25 70
Birt-Hogg-Dubé Syndrome 23 25 54
Hornstein-Knickenberg Syndrome 48 25
 
Birt Hogg Dube Syndrome 48 27
Hornstein-Birt-Hogg-Dubé Syndrome 25
Multiple Fibrofolliculomas 68
Bhd Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
fibrofolliculomas with trichodiscomas and acrochordons:
Inheritance: Autosomal dominant; Age of onset: Adult

HPO:

64
birt-hogg-dube syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: based on the three major clinical manifestations, penetrance of bhds is considered to be very high...


Classifications:



External Ids:

OMIM52 135150
Disease Ontology11 DOID:0050676
Orphanet54 ORPHA122
MESH via Orphanet40 D058249
UMLS via Orphanet69 C0346010
MedGen37 C0346010
MeSH39 D058249

Summaries for Birt-Hogg-Dube Syndrome

About this section
NIH Rare Diseases:48 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 bobble-head doll syndrome, and has symptoms including Array, Array and Array. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways are Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling and Central carbon metabolism in cancer. Affiliated tissues include lung, kidney and skin, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and neoplasm.

OMIM:52 Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney... (135150) more...

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome,... more...

GeneReviews for NBK1522

Related Diseases for Birt-Hogg-Dube Syndrome

About this section

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma11.7
2bobble-head doll syndrome11.6
3pneumothorax, primary spontaneous11.5
4renal oncocytoma11.4
5hip dysplasia, beukes type11.3
6pneumothorax10.5
7chromophobe renal cell carcinoma10.3
8beckwith-wiedemann syndrome10.2
9lymphangioleiomyomatosis10.2
10incontinentia pigmenti10.2
11lipoma10.2
12ciliopathy10.2
13arteriovenous malformation10.2
14tuberous sclerosis10.2
15melanoma10.2
16angiomyolipoma10.2
17histiocytosis10.2
18angiolipoma10.2
19adenoma10.2
20thyroiditis10.2
21parathyroid adenoma10.2
22peritonitis10.2
23lung disease10.2
24pulmonary arteriovenous malformation10.2
25polycythemia10.1FLCN, MTOR
26breast ductal carcinoma10.1CTNNB1, PTEN
27adult syndrome10.1CTNNB1, PTEN
28gallbladder cancer10.1FLCN, MTOR
29intestinal pseudo-obstruction10.1CTNNB1, PTCH1
30chronic pain10.1CTNNB1, PTEN
31hemorrhagic proctocolitis10.1CTNNB1, MTOR
32fibromatosis, gingival, 110.1CTNNB1, PTEN
33childhood central nervous system primitive neuroectodermal neoplasm10.1CTNNB1, PTCH1
34focal cortical dysplasia, taylor balloon cell type10.1MTOR, PTEN
35complement deficiency10.0FH, FLCN
36urticaria10.0FLCN, FNIP1
37renal clear cell carcinoma10.0FH, FLCN
38pineal dysgerminoma10.0MTOR, PTEN
39extragonadal germ cell cancer10.0CTNNB1, PTCH1
40rectum kaposi's sarcoma10.0FH, FLCN
41herpes simplex encephalitic 610.0CTNNB1, PTCH1, PTEN
42nodular goiter10.0CTNNB1, PTCH1, PTEN
43caroli disease9.9CTNNB1, PTCH1
44ocular melanoma9.9CTNNB1, PTCH1, PTEN
45lipoadenoma9.9FH, FLCN
46neurological consequences of cytomegalovirus infection9.9MTOR, PTEN
47ovarian brenner tumor9.7FH, FLCN, MTOR, PTEN
48bernard-soulier syndrome, type c9.7FH, FLCN, MTOR, PTEN
49thyrotoxic periodic paralysis 29.0CTNNB1, FH, FLCN, FNIP1, MTOR, PTCH1

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



Diseases related to birt-hogg-dube syndrome

Symptoms & Phenotypes for Birt-Hogg-Dube Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

135150

Clinical features from OMIM:

135150

Human phenotypes related to Birt-Hogg-Dube Syndrome:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lipomas64 54 Frequent (79-30%) HP:0001012
2 emphysema64 54 Very frequent (99-80%) HP:0002097
3 pneumothorax64 54 Occasional (29-5%) HP:0002107
4 medullary thyroid carcinoma64 54 Occasional (29-5%) HP:0002865
5 parathyroid adenoma64 54 Occasional (29-5%) HP:0002897
6 renal cell carcinoma64 54 Occasional (29-5%) HP:0005584
7 abnormality of retinal pigmentation64 54 Frequent (79-30%) HP:0007703
8 skin tags64 54 Very frequent (99-80%) HP:0010609
9 pulmonary sequestration64 54 Frequent (79-30%) HP:0100632
10 papule64 54 Very frequent (99-80%) HP:0200034
11 renal cyst64 HP:0000107
12 abnormality of abdomen morphology64 HP:0001438
13 abnormality of the hair64 HP:0001595
14 spontaneous pneumothorax64 HP:0002108
15 fibrofolliculoma64 HP:0030436

GenomeRNAi Phenotypes related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.1CTNNB1, FLCN, MTOR

MGI Mouse Phenotypes related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6CTNNB1, FLCN, FNIP1, PTCH1, PTEN
2MP:00053808.6CTNNB1, FLCN, MTOR, PTCH1, PTEN
3MP:00053698.1CTNNB1, FNIP1, MTOR, PTCH1, PTEN
4MP:00053877.8CTNNB1, FLCN, FNIP1, MTOR, PTCH1, PTEN
5MP:00053857.7CTNNB1, FLCN, FNIP1, MTOR, PTCH1, PTEN
6MP:00053977.7CTNNB1, FLCN, FNIP1, MTOR, PTCH1, PTEN
7MP:00053677.1CTNNB1, FH, FLCN, FNIP1, MTOR, PTCH1
8MP:00053767.0CTNNB1, FH, FLCN, FNIP1, MTOR, PTCH1
9MP:00053847.0CTNNB1, FH, FLCN, FNIP1, MTOR, PTCH1

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sirolimusapproved, investigationalPhase 3, Phase 2194053123-88-95284616, 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
Miconazoleapproved, investigational, vet_approvedPhase 3, Phase 2370622916-47-84189
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
EverolimusapprovedPhase 3, Phase 21940159351-69-66442177
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
4Pharmaceutical SolutionsPhase 38192
5Antibiotics, AntitubercularPhase 3, Phase 27180
6Anti-Infective AgentsPhase 3, Phase 222062
7Antifungal AgentsPhase 3, Phase 23696
8Immunosuppressive AgentsPhase 3, Phase 213086
9Anti-Bacterial AgentsPhase 3, Phase 211226
10
LactitolPhase 2336585-86-43871
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 BHDRecruitingNCT02916992Phase 1
4Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube SyndromeRecruitingNCT03040115
5Genetic 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

About this section

Genetic tests related to Birt-Hogg-Dube Syndrome:

id Genetic test Affiliating Genes
1 Birt-Hogg-Dub Syndrome27
2 Birt-Hogg-Dube Syndrome24 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

About this section

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

36
Lung, Kidney, Skin, Thyroid

Publications for Birt-Hogg-Dube Syndrome

About this section

Articles related to Birt-Hogg-Dube Syndrome:

(show all 43)
idTitleAuthorsYear
1
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. (28470670)
2017
2
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. (28151982)
2017
3
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. (28242119)
2017
4
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. (26877139)
2016
5
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. (27867584)
2016
6
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. (27642565)
2016
7
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. (27643397)
2016
8
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. (26625667)
2015
9
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. (25970555)
2015
10
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. (25059020)
2014
11
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
12
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. (23904515)
2013
13
Birt-Hogg-Dube syndrome is a novel ciliopathy. (23784378)
2013
14
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. (23223565)
2013
15
Birt-Hogg-Dube syndrome. (22906666)
2012
16
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. (23050938)
2012
17
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. (21538689)
2011
18
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. (21466061)
2011
19
Thoracic CT findings in Birt-Hogg-Dube syndrome. (21257886)
2011
20
Association between Birt Hogg Dube syndrome and cancer predisposition. (20392993)
2010
21
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. (20392792)
2010
22
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. (19785621)
2010
23
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. (20413710)
2010
24
Dermoscopic features of Birt-Hogg-Dube syndrome. (19841421)
2009
25
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. (19659657)
2009
26
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. (19101904)
2008
27
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
28
Cystic lung disease in Birt-Hogg-Dube syndrome. (17505035)
2007
29
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. (17903168)
2007
30
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. (16928562)
2006
31
Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. (15746620)
2005
32
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. (15852235)
2005
33
Birt-Hogg-Dube syndrome. (15748585)
2004
34
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12771781)
2003
35
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. (11836379)
2002
36
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. (12358810)
2002
37
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
38
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12352424)
2002
39
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. (11176677)
2001
40
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. (11737429)
2001
41
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. (9452372)
1997
42
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. (8734663)
1996
43
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

About this section

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

70
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 63)
id Gene Variation Type Significance SNP ID Assembly Location
1FLCNNM_ 144997.5(FLCN): c.499C> T (p.Gln167Ter)SNVPathogenicrs587782069GRCh37Chr 17, 17127355: 17127355
2FLCNNM_ 144997.5(FLCN): c.446delG (p.Gly149Alafs)deletionLikely pathogenicrs727504645GRCh37Chr 17, 17127408: 17127408
3FLCNNM_ 144997.5(FLCN): c.250-1G> ASNVPathogenicrs786202081GRCh37Chr 17, 17129637: 17129637
4FLCNNM_ 144997.5(FLCN): c.469_ 471delTTC (p.Phe157del)deletionPathogenic/ Likely pathogenicrs786203218GRCh38Chr 17, 17224069: 17224071
5FLCNNM_ 144997.5(FLCN): c.1252delC (p.Leu418Trpfs)deletionPathogenicrs864622651GRCh37Chr 17, 17119742: 17119742
6FLCNNM_ 144997.5(FLCN): c.553T> C (p.Ser185Pro)SNVLikely pathogenicrs876657646GRCh37Chr 17, 17127301: 17127301
7FLCNNM_ 144997.5(FLCN): c.59delT (p.Phe20Serfs)deletionPathogenicrs876658390GRCh37Chr 17, 17131393: 17131393
8FLCNNM_ 144997.5(FLCN): c.557G> A (p.Trp186Ter)SNVPathogenicrs876658409GRCh37Chr 17, 17127297: 17127297
9FLCNNM_ 144997.5(FLCN): c.779+1G> TSNVPathogenicrs758175953GRCh37Chr 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> GSNVLikely 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> CSNVLikely 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)SNVPathogenicrs879255658GRCh37Chr 17, 17131449: 17131449
19FLCNNM_ 144997.5(FLCN): c.453delG (p.Phe152Serfs)deletionPathogenicrs879255660GRCh37Chr 17, 17127401: 17127401
20FLCNNM_ 144997.5(FLCN): c.632_ 633delAGinsC (p.Glu211Alafs)indelPathogenicrs879255661GRCh37Chr 17, 17125961: 17125962
21FLCNNM_ 144997.5(FLCN): c.634C> T (p.Gln212Ter)SNVPathogenicrs558699420GRCh37Chr 17, 17125960: 17125960
22FLCNNM_ 144997.5(FLCN): c.735_ 738delAAGT (p.Ser246Metfs)deletionPathogenicrs879255662GRCh37Chr 17, 17125856: 17125859
23FLCNNM_ 144997.5(FLCN): c.752G> A (p.Trp251Ter)SNVPathogenicrs879255663GRCh37Chr 17, 17125842: 17125842
24FLCNNM_ 144997.5(FLCN): c.851delT (p.Val284Alafs)deletionPathogenicrs879255666GRCh37Chr 17, 17124871: 17124871
25FLCNNM_ 144997.5(FLCN): c.853C> T (p.Gln285Ter)SNVPathogenicrs879255667GRCh37Chr 17, 17124869: 17124869
26FLCNNM_ 144997.5(FLCN): c.875T> G (p.Leu292Ter)SNVPathogenicrs879255668GRCh38Chr 17, 17219206: 17219206
27FLCNNM_ 144997.5(FLCN): c.927dupA (p.Ala310Serfs)duplicationPathogenicrs879255669GRCh37Chr 17, 17122468: 17122468
28FLCNNM_ 144997.5(FLCN): c.1036_ 1043delTTCAAGTC (p.Phe346Profs)deletionPathogenicrs879255670GRCh38Chr 17, 17219038: 17219045
29FLCNNM_ 144997.5(FLCN): c.1098G> A (p.Trp366Ter)SNVPathogenicrs879255672GRCh37Chr 17, 17120461: 17120461
30FLCNNM_ 144997.5(FLCN): c.1124_ 1139del16 (p.Ile375Thrfs)deletionPathogenicrs879255673GRCh37Chr 17, 17120420: 17120435
31FLCNNM_ 144997.5(FLCN): c.1286dupA (p.His429Glnfs)duplicationPathogenicrs879255675GRCh37Chr 17, 17119708: 17119708
32FLCNNM_ 144997.5(FLCN): c.1300+1G> ASNVPathogenicrs879255676GRCh37Chr 17, 17119693: 17119693
33FLCNNM_ 144997.5(FLCN): c.1318_ 1334dup17 (p.Leu449Glnfs)duplicationPathogenicrs879255677GRCh38Chr 17, 17215283: 17215299
34FLCNNM_ 144997.5(FLCN): c.1389C> A (p.Tyr463Ter)SNVPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
35FLCNNM_ 144997.5(FLCN): c.1429C> T (p.Arg477Ter)SNVPathogenicrs879255678GRCh38Chr 17, 17215188: 17215188
36FLCNNM_ 144997.5(FLCN): c.1432+1G> ASNVPathogenic/ Likely pathogenicrs755959303GRCh37Chr 17, 17118498: 17118498
37FLCNNM_ 144997.5(FLCN): c.1487_ 1490dupCTGT (p.Asp498Cysfs)duplicationPathogenicrs879255679GRCh38Chr 17, 17215033: 17215036
38FLCNNM_ 144997.5(FLCN): c.1528delG (p.Glu510Serfs)deletionPathogenicrs879255680GRCh38Chr 17, 17214995: 17214995
39FLCNNM_ 144997.5(FLCN): c.1528_ 1530delGAG (p.Glu510del)deletionLikely pathogenicrs879255681GRCh37Chr 17, 17118307: 17118309
40FLCNNM_ 144997.5(FLCN): c.1532G> A (p.Trp511Ter)SNVPathogenicrs879255682GRCh37Chr 17, 17118305: 17118305
41FLCNNM_ 144997.5(FLCN): c.1579C> T (p.Arg527Ter)SNVPathogenic/ Likely pathogenicrs879255683GRCh37Chr 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
45FLCNNM_ 144997.5(FLCN): c.1389C> G (p.Tyr463Ter)SNVPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
46FLCNNM_ 144997.5(FLCN): c.235_ 238delTCGG (p.Ser79Thrfs)deletionPathogenicrs750146811GRCh37Chr 17, 17131214: 17131217
47FLCNFLCN, 2-BP DEL/2-BP INS, NT610indelPathogenic
48FLCNNM_ 144997.5(FLCN): c.932_ 933delCT (p.Pro311Argfs)deletionPathogenicGRCh37Chr 17, 17122462: 17122463
49FLCNNM_ 144997.5(FLCN): c.1021delC (p.Arg341Glyfs)deletionPathogenicrs1060502368GRCh38Chr 17, 17219060: 17219060
50FLCNNM_ 144997.5(FLCN): c.249+1G> TSNVLikely pathogenicrs1060502369GRCh38Chr 17, 17227888: 17227888
51FLCNNM_ 144997.5(FLCN): c.503_ 518del16insATCAG (p.Arg168Hisfs)indelPathogenicGRCh38Chr 17, 17224022: 17224037
52FLCNNM_ 144997.5(FLCN): c.202delA (p.Ser68Alafs)deletionPathogenicrs1060502370GRCh38Chr 17, 17227936: 17227936
53FLCNNM_ 144997.5(FLCN): c.239delA (p.Asp80Alafs)deletionPathogenicrs1060502371GRCh38Chr 17, 17227899: 17227899
54FLCNNM_ 144997.5(FLCN): c.780-1G> TSNVPathogenic/ Likely pathogenicrs878855218GRCh38Chr 17, 17221629: 17221629
55FLCNNM_ 144997.5(FLCN): c.1522_ 1524delAAG (p.Lys508del)deletionPathogenic/ Likely pathogenicrs398124529GRCh37Chr 17, 17118313: 17118315
56FLCNNM_ 144997.5(FLCN): c.1533G> A (p.Trp511Ter)SNVPathogenicrs398124530GRCh37Chr 17, 17118304: 17118304
57FLCNNM_ 144997.5(FLCN): c.250-2A> GSNVPathogenicrs398124533GRCh37Chr 17, 17129638: 17129638
58FLCNNM_ 144997.5(FLCN): c.296delA (p.Asp99Valfs)deletionPathogenicrs398124534GRCh37Chr 17, 17129590: 17129590
59FLCNNM_ 144997.5(FLCN): c.319_ 320delGTinsCAC (p.Val107Hisfs)indelPathogenicrs398124535GRCh37Chr 17, 17129566: 17129567
60FLCNNM_ 144997.5(FLCN): c.346C> T (p.Gln116Ter)SNVPathogenicrs398124536GRCh37Chr 17, 17129540: 17129540
61FLCNNM_ 144997.5(FLCN): c.610_ 611delGCinsTA (p.Ala204Ter)indelPathogenicrs398124538GRCh37Chr 17, 17127243: 17127244
62FLCNNM_ 144997.5(FLCN): c.890_ 893delAAAG (p.Glu297Alafs)deletionPathogenicrs398124541GRCh37Chr 17, 17122502: 17122505
63FLCNNM_ 144997.5(FLCN): c.927_ 954dup28 (p.Gly319Serfs)duplicationPathogenicrs398124542GRCh37Chr 17, 17122441: 17122468

Expression for genes affiliated with Birt-Hogg-Dube Syndrome

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

Pathways for genes affiliated with Birt-Hogg-Dube Syndrome

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.5MTOR, PTEN
29.5MTOR, PTEN
39.5MTOR, PTEN
49.4CTNNB1, MTOR
59.4CTNNB1, MTOR
6
Show member pathways
9.0CTNNB1, MTOR, PTEN
7
Show member pathways
9.0CTNNB1, MTOR, PTEN
89.0CTNNB1, MTOR, PTEN
99.0CTNNB1, MTOR, PTEN
109.0CTNNB1, MTOR, PTCH1
11
Show member pathways
8.5FLCN, FNIP1, MTOR, PTEN
12
Show member pathways
7.8CTNNB1, FH, FLCN, MTOR, PTEN
137.7CTNNB1, FH, MTOR, PTCH1, PTEN

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

About this section

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ERK1 and ERK2 cascadeGO:007037310.4FLCN, PTEN
2negative regulation of protein kinase B signalingGO:005189810.4FLCN, PTEN
3negative regulation of epithelial cell proliferationGO:005068010.4PTCH1, PTEN
4cardiac muscle tissue developmentGO:004873810.3MTOR, PTEN
5negative regulation of cell sizeGO:004579210.3MTOR, PTEN
6negative regulation of protein phosphorylationGO:000193310.3MTOR, PTEN
7branching involved in ureteric bud morphogenesisGO:000165810.3CTNNB1, PTCH1
8cell fate determinationGO:000170910.3CTNNB1, PTCH1
9dorsal/ventral pattern formationGO:000995310.3CTNNB1, PTCH1
10heart morphogenesisGO:000300710.3MTOR, PTCH1
11negative regulation of TOR signalingGO:003200710.2FLCN, FNIP1
12renal system developmentGO:007200110.2CTNNB1, PTCH1
13regulation of pro-B cell differentiationGO:200097310.1FLCN, FNIP1
14positive regulation of epithelial to mesenchymal transitionGO:001071810.1CTNNB1, MTOR
15regulation of myelinationGO:003164110.1CTNNB1, MTOR
16regulation of osteoclast differentiationGO:004567010.1CTNNB1, MTOR
17in utero embryonic developmentGO:00017019.9CTNNB1, FLCN, PTCH1
18positive regulation of apoptotic processGO:00430659.9CTNNB1, FLCN, PTEN
19social behaviorGO:00351769.8MTOR, PTEN
20negative regulation of cell proliferationGO:00082859.8CTNNB1, PTCH1, PTEN
21positive regulation of gene expressionGO:00106289.7CTNNB1, MTOR, PTEN
22response to drugGO:00424939.7CTNNB1, PTCH1, PTEN
23positive regulation of protein phosphorylationGO:00019349.6FLCN, FNIP1, MTOR
24regulation of protein phosphorylationGO:00019329.6FLCN, FNIP1, MTOR
25response to estradiolGO:00323559.6CTNNB1, PTCH1, PTEN
26negative regulation of transcription from RNA polymerase II promoterGO:00001229.2CTNNB1, FLCN, FNIP1, PTCH1
27TOR signalingGO:00319299.0FLCN, FNIP1, MTOR

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.0CTNNB1, MTOR, PTEN

Sources for Birt-Hogg-Dube Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet