MCID: BRT002
MIFTS: 50

Birt-Hogg-Dube Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Birt-Hogg-Dube Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 67UniProtKB/Swiss-Prot, 68Wikipedia, 21GeneReviews, 23Genetics Home Reference, 51Orphanet, 22GeneTests, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 49 10 11 45 47 12 67
Fibrofolliculomas with Trichodiscomas and Acrochordons 45 23 51 67
Birt-Hogg-Dubé Syndrome 68 21 23 51
Bhd 45 23 67
Hornstein-Knickenberg Syndrome 45 23
 
Birt Hogg Dube Syndrome 45 22
Hornstein-Birt-Hogg-Dubé Syndrome 23
Multiple Fibrofolliculomas 65
Bhd Syndrome 45
Bhds 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
fibrofolliculomas with trichodiscomas and acrochordons:
Inheritance: Autosomal dominant; Age of onset: Adult


External Ids:

OMIM49 135150
Disease Ontology10 DOID:0050676
Orphanet51 122
MESH via Orphanet37 D058249
UMLS via Orphanet66 C0346010
MedGen34 C0346010
MeSH36 D058249

Summaries for Birt-Hogg-Dube Syndrome

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NIH Rare Diseases:45 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 kidney cancer and kidney benign neoplasm, 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 Stabilization and expansion of the E-cadherin adherens junction and Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are limbs/digits/tail and muscle.

Genetics Home Reference:23 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:49 Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney... (135150) more...

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for bhd

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 top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1kidney cancer31.1FLCN, MTOR
2kidney benign neoplasm30.9FLCN, MTOR
3renal cell carcinoma, papillary30.7FH, MET
4renal cell carcinoma30.2BHD, FH, FLCN, MET, MTOR, PTEN
5kidney disease30.2FH, FLCN, MET, MTOR, PTEN
6pneumothorax, primary spontaneous28.8BHD, CTNNB1, CYLD, FH, FLCN, FNIP2
7pneumothorax10.8
8chromophobe renal cell carcinoma10.7
9c syndrome10.6
10adult syndrome10.6
11lung cancer susceptibility 310.6
12primary hyperoxaluria10.6
13collecting duct carcinoma10.6
14cervical adenocarcinoma10.6
15hereditary renal cell carcinoma10.6
16thoracic cancer10.6
17urinary system disease10.6
18renal cell carcinoma 410.6
19anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.5
20tumor predisposition syndrome10.5
21coronary heart disease 510.5
22beckwith-wiedemann syndrome10.5
23lung cancer susceptibility 410.5
24lymphangioleiomyomatosis10.5
25coronary heart disease 610.5
26thyroid cancer, nonmedullary, 210.5
27small cell cancer of the lung, somatic10.5
28n syndrome10.5
29incontinentia pigmenti10.5
30lipoma10.5
31child syndrome10.5
32hepatitis10.5
33renal oncocytoma10.5
34skin disease10.5
35small cell carcinoma10.5
36renal pelvis adenocarcinoma10.5
37spondylosis10.5
38langerhans-cell histiocytosis10.5
39hepatitis c10.5
40hepatitis a10.5
41hepatitis d10.5
42small cell neuroendocrine carcinoma10.5
43adenocarcinoma10.5
44adenoma10.5
45angiolipoma10.5
46bone cancer10.5
47brain cancer10.5
48cell type benign neoplasm10.5
49cervical benign neoplasm10.5
50chromophobe adenocarcinoma10.5

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:

 51 (show all 12)
  • follicular/erythematous/edematous papules/milium
  • pedunculated skin lesions
  • emphysema
  • autosomal dominant inheritance
  • retinitis pigmentosa/retinal pigmentary changes
  • xanthomas/lipomas
  • radiologic lung abnormalities/changes
  • salivary gland neoplasm/tumor/carcinoma/cancer
  • digestive neoplasm/tumor/carcinoma/cancer
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • parathyroid neoplasm/tumor/carcinoma/cancer

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

(show all 17)
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 autosomal dominant inheritance HP:0000006
11 renal cyst HP:0000107
12 multiple lipomas HP:0001012
13 abnormality of the abdomen HP:0001438
14 abnormality of the hair HP:0001595
15 spontaneous pneumothorax HP:0002108
16 renal cell carcinoma HP:0005584
17 fibrofolliculoma HP:0030436

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
Sirolimusapproved, investigationalPhase 3, Phase 2174253123-88-95284616, 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, investigationalPhase 3, Phase 2291222916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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 21742159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
4
LactitolPhase 2313585-86-43871
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
3Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney CancerRecruitingNCT00033137

Search NIH Clinical Center for 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-Dube Syndrome22 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

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

33
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:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3CTNNB1, CYLD, MET, PTCH1, PTEN
2MP:00053698.3CTNNB1, MET, MTOR, PTCH1, PTEN
3MP:00053818.2CTNNB1, CYLD, MET, PTCH1, PTEN
4MP:00053807.9CTNNB1, FLCN, MET, MTOR, PTCH1, PTEN
5MP:00028737.8CTNNB1, CYLD, MET, MTOR, PTCH1, PTEN
6MP:00020067.5CTNNB1, CYLD, FLCN, MET, PTCH1, PTEN
7MP:00053677.5CTNNB1, FH, FLCN, MET, MTOR, PTCH1
8MP:00053887.4CTNNB1, CYLD, MET, MTOR, PTCH1, PTEN
9MP:00053787.2CTNNB1, CYLD, FLCN, MET, MTOR, PTCH1
10MP:00053877.1CTNNB1, CYLD, FLCN, MET, MTOR, PTCH1
11MP:00053846.9CTNNB1, CYLD, FH, FLCN, MET, MTOR
12MP:00107686.8CTNNB1, CYLD, FH, FLCN, MET, MTOR
13MP:00053766.7CTNNB1, CYLD, FH, FLCN, MET, MTOR

Publications for Birt-Hogg-Dube Syndrome

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Articles related to Birt-Hogg-Dube Syndrome:

(show all 35)
idTitleAuthorsYear
1
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. (25970555)
2015
2
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. (25059020)
2014
3
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
4
Birt-Hogg-Dube syndrome is a novel ciliopathy. (23784378)
2013
5
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. (23223565)
2013
6
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. (23904515)
2013
7
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. (23050938)
2012
8
Birt-Hogg-Dube syndrome. (22906666)
2012
9
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. (21538689)
2011
10
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. (21466061)
2011
11
Thoracic CT findings in Birt-Hogg-Dube syndrome. (21257886)
2011
12
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. (20413710)
2010
13
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. (20392792)
2010
14
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. (19785621)
2010
15
Association between Birt Hogg Dube syndrome and cancer predisposition. (20392993)
2010
16
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. (19659657)
2009
17
Dermoscopic features of Birt-Hogg-Dube syndrome. (19841421)
2009
18
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. (19101904)
2008
19
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
20
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. (17903168)
2007
21
Cystic lung disease in Birt-Hogg-Dube syndrome. (17505035)
2007
22
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. (16928562)
2006
23
Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. (15746620)
2005
24
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. (15852235)
2005
25
Birt-Hogg-Dube syndrome. (15748585)
2004
26
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12771781)
2003
27
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12352424)
2002
28
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
29
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. (11836379)
2002
30
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. (12358810)
2002
31
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. (11737429)
2001
32
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. (11176677)
2001
33
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. (9452372)
1997
34
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. (8734663)
1996
35
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:

67
id Symbol AA change Variation ID SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLCNNM_144997.5(FLCN): c.446delG (p.Gly149Alafs)deletionLikely pathogenicrs727504645GRCh37Chr 17, 17127408: 17127408
2FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119709: 17119709
3FLCNNM_144997.5(FLCN): c.1285delC (p.His429Thrfs)deletionPathogenicrs80338683GRCh37Chr 17, 17119709: 17119709
4FLCNFLCN, 2-BP DEL, 632AG AND 1-BP INS, 632CindelPathogenic
5FLCNFLCN, 28-BP DUP, NT923duplicationPathogenic
6FLCNNM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter)single nucleotide variantPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
7FLCNFLCN, IVS4AS, A-G, -2single nucleotide variantPathogenic
8FLCNFLCN, 11-BP DEL, NT1301-2 AND 1-BP DEL/2-BP INS, NT1323indelPathogenic
9FLCNFLCN, 2-BP DEL/2-BP INS, NT610indelPathogenic
10FLCNNM_144997.5(FLCN): c.610_611delGCinsTA (p.Ala204Ter)indelPathogenicrs398124538GRCh37Chr 17, 17127243: 17127244

Cosmic variations for Birt-Hogg-Dube Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110659TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
243697TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
310670TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
445322TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
511450TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
611071TP53kidney,NS,carcinoma,chromophobe renal cell carcinoma3
718028VHLkidney,NS,carcinoma,chromophobe renal cell carcinoma3

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2CTNNB1, MET
29.2CTNNB1, MET
39.2CTNNB1, MTOR, PTEN
4
Show member pathways
9.2CTNNB1, MTOR, PTEN
59.2CTNNB1, MTOR, PTEN
6
Show member pathways
9.2CTNNB1, MTOR, PTEN
79.1CTNNB1, CYLD, PTCH1
88.8MET, MTOR, PTEN
9
Show member pathways
8.8MET, MTOR, PTEN
108.8MET, MTOR, PTEN
11
Show member pathways
8.7CTNNB1, MET, MTOR
12
Show member pathways
8.4CTNNB1, MET, MTOR, PTEN
138.3CTNNB1, MET, MTOR, PTCH1
14
Show member pathways
7.6CTNNB1, FH, FLCN, MET, MTOR, PTEN
157.5CTNNB1, FH, MET, MTOR, PTCH1, PTEN

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:00304969.2CYLD, FLCN, PTCH1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1renal system developmentGO:007200110.3CTNNB1, PTCH1
2dorsal/ventral pattern formationGO:000995310.2CTNNB1, PTCH1
3cardiac muscle tissue developmentGO:004873810.2MTOR, PTEN
4negative regulation of cell sizeGO:004579210.2MTOR, PTEN
5regulation of protein phosphorylationGO:000193210.1FLCN, FNIP2
6TOR signalingGO:003192910.1FLCN, MTOR
7branching involved in ureteric bud morphogenesisGO:000165810.1CTNNB1, PTCH1
8negative regulation of protein kinase B signalingGO:005189810.0FLCN, PTEN
9cell fate determinationGO:000170910.0CTNNB1, PTCH1
10regulation of osteoclast differentiationGO:004567010.0CTNNB1, MTOR
11regulation of myelinationGO:003164110.0CTNNB1, MTOR
12cardiac muscle cell developmentGO:00550139.7MET, MTOR
13adult behaviorGO:00305349.7MET, PTEN
14in utero embryonic developmentGO:00017019.7CTNNB1, FLCN, PTCH1
15negative regulation of autophagyGO:00105079.4MET, MTOR
16response to estradiolGO:00323559.2CTNNB1, PTCH1, PTEN
17negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CTNNB1, FLCN, FNIP2, PTCH1
18cardiac muscle contractionGO:00600488.8MET, MTOR

Sources for Birt-Hogg-Dube Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet