MCID: BRT002
MIFTS: 49

Birt-Hogg-Dube Syndrome malady

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

Aliases & Classifications for Birt-Hogg-Dube Syndrome

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Aliases & Descriptions for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 49 10 11 45 22 47 12 67 36
Fibrofolliculomas with Trichodiscomas and Acrochordons 45 23 51 67
Birt-Hogg-Dubé Syndrome 68 21 23 51
Bhd 45 22 23 67
Hornstein-Knickenberg Syndrome 45 23
 
Hornstein-Birt-Hogg-Dubé Syndrome 23
Multiple Fibrofolliculomas 65
Birt Hogg Dube Syndrome 45
Bhd Syndrome 45

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
birt-hogg-dube syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 135150
Disease Ontology10 DOID:0050676
Orphanet51 122
MESH via Orphanet37 D058249
UMLS via Orphanet66 C0346010
MedGen34 C0346010
MeSH36 D058249
UMLS65 C0346010

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 lupus erythematosus and renal cell carcinoma, and has symptoms including emphysema, abnormality of the skin and abnormality of retinal pigmentation. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways are Cell adhesion_Cadherin-mediated cell adhesion and Stabilization and expansion of the E-cadherin adherens junction. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are limbs/digits/tail and muscle.

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.

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...

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 top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.3MET, PTEN
2renal cell carcinoma29.9BHD, FH, FLCN, MET, MTOR, PTEN
3pneumothorax, primary spontaneous28.3BHD, CTNNB1, CYLD, FH, FLCN, FNIP2
4hip dysplasia, beukes type11.8
5bobble-head doll syndrome11.7
6renal oncocytoma10.9
7peutz-jeghers syndrome10.6
8female stress incontinence10.6
9gastric cancer10.6
10ulcerative colitis10.6
11cutaneous lupus erythematosus10.6
12restless legs syndrome10.6
13colitis10.6
14metaphyseal dysplasia10.6
15nephrotic syndrome10.6
16prostatitis10.6
17cervicitis10.6
18adenocarcinoma10.6
19aortic aneurysm10.6
20myopathy10.6
21pancreatitis10.6
22prion disease10.6
23abdominal aortic aneurysm10.6
24influenza10.6
25developmental disabilities10.6
26cervical intraepithelial neoplasia10.6
27haemophilus influenzae10.6
28horseshoe kidney10.6
29steroid-resistant nephrotic syndrome10.6
30aneurysm10.6
31subacute cutaneous lupus erythematosus10.6
32paraquat poisoning10.6
33thyrotoxic periodic paralysis 210.3BHD, FLCN
34ovary neuroendocrine neoplasm10.3CTNNB1, PTEN
35thrombophlebitis10.3CTNNB1, PTCH1
36carcinoma arising in nasal papillomatosis10.2FLCN, MTOR
37gastrointestinal system cancer10.2FLCN, MTOR
38cervicomedullary junction neoplasm10.2CTNNB1, PTCH1
39hypoparathyroidism10.2
40renal dysplasia10.2
41tanycytic ependymoma10.2MTOR, PTEN
42ophthalmoplegia10.1FH, FLCN
43large cell neuroendocrine carcinoma10.1CTNNB1, PTCH1
44trichoepithelioma, multiple familial, 110.1CYLD, PTCH1
45nontoxic goiter10.1CTNNB1, PTCH1, PTEN
46mismatch repair cancer syndrome10.1CTNNB1, PTEN
47bone ameloblastoma10.1CTNNB1, PTCH1
48integumentary system cancer10.1CTNNB1, CYLD
49hepatic osteogenic sarcoma10.0MET, PTEN
50cell type cancer10.0CTNNB1, MTOR, PTEN

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

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):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusapprovedPhase 3, Phase 21797159351-69-66442177
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
2
Sirolimusapproved, investigationalPhase 3, Phase 2179753123-88-95284616, 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
3
Miconazoleapproved, investigationalPhase 3, Phase 2302622916-47-84189
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
4Pharmaceutical SolutionsPhase 37004
5Immunosuppressive AgentsPhase 3, Phase 210422
6Immunologic FactorsPhase 3, Phase 218483
7Antibiotics, AntitubercularPhase 3, Phase 25971
8Anti-Bacterial AgentsPhase 3, Phase 29140
9Antifungal AgentsPhase 3, Phase 23015
10Anti-Infective AgentsPhase 3, Phase 217220
11
LactitolPhase 2320585-86-43871
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


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-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, B cells, T cells

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 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4CTNNB1, CYLD, MET, PTCH1, PTEN
2MP:00053698.4CTNNB1, MET, MTOR, PTCH1, PTEN
3MP:00053818.3CTNNB1, CYLD, MET, PTCH1, PTEN
4MP:00053808.2CTNNB1, FLCN, MET, MTOR, PTCH1, PTEN
5MP:00020068.1CTNNB1, CYLD, FLCN, MET, PTCH1, PTEN
6MP:00053797.9CTNNB1, CYLD, MET, MTOR, PTCH1, PTEN
7MP:00028737.9CTNNB1, CYLD, MET, MTOR, PTCH1, PTEN
8MP:00053887.9CTNNB1, CYLD, MET, MTOR, PTCH1, PTEN
9MP:00053677.7CTNNB1, FH, FLCN, MET, MTOR, PTCH1
10MP:00053877.3CTNNB1, CYLD, FLCN, MET, MTOR, PTCH1
11MP:00053847.0CTNNB1, CYLD, FH, FLCN, MET, MTOR
12MP:00107687.0CTNNB1, CYLD, FH, FLCN, MET, MTOR
13MP:00053766.5CTNNB1, CYLD, FH, FLCN, FNIP2, MET

Publications for Birt-Hogg-Dube Syndrome

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Articles related to Birt-Hogg-Dube Syndrome:

(show all 35)
idTitleAuthorsYear
1
A Case of Interstitial Lung Disease With Apical Pleural Thickening: Idiopathic Pleuroparenchymal Fibroelastosis. (24139332)
2014
2
Protective effect of lawsone on L-Arginine induced acute pancreatitis in rats. (23678547)
2013
3
Associations between polymorphisms in sex steroid related genes and autistic-like traits. (23867117)
2013
4
Helicobacter pylori infection and administration of non-steroidal anti-inflammatory drugs down-regulate the expression of gastrokine-1 in gastric mucosa. (22798109)
2012
5
Recombinant human sperm-specific glyceraldehyde-3-phosphate dehydrogenase (GAPDHS) is expressed at high yield as an active homotetramer in baculovirus-infected insect cells. (20828617)
2011
6
Reduced level of smoothened suppresses intestinal tumorigenesis by down-regulation of Wnt signaling. (19427313)
2009
7
The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells. (19168546)
2009
8
Bacillus Calmette-GuAcrin enhances the function of human nature killer cells by inducing IL-12 production and IL-12R expression]. (19900360)
2009
9
Hereditary hemorrhagic telangiectasia]. (19839452)
2009
10
S-Nitrosylation of secreted recombinant human glypican-1. (19479373)
2009
11
High grade B-cell gastric lymphoma with complete pathologic remission after eradication of Helicobacter pylori infection: report of a case and review of the literature. (18353178)
2008
12
Association von Willebrand's disease and nevoid basal cell carcinoma syndrome (Gorlin syndrome). (19160467)
2008
13
Transcriptional regulation of the cannabinoid receptor type 1 gene in T cells by cannabinoids. (17041005)
2007
14
Slow intravenous iron administration does not aggravate oxidative stress and inflammatory biomarkers during hemodialysis: a comparative study between iron sucrose and iron dextran. (17804904)
2007
15
Distribution of eschars on the body of scrub typhus patients: a prospective study. (17488895)
2007
16
Influence of eNOS haplotypes on the plasma nitric oxide products concentrations in hypertensive and type 2 diabetes mellitus patients. (17306574)
2007
17
Cancer immunotherapy using irradiated tumor cells secreting heat shock protein 70. (17942939)
2007
18
TGF-beta1 mRNA upregulation influences chronic renal allograft dysfunction. (16612332)
2006
19
Social supports and serotonin transporter gene moderate depression in maltreated children. (15563601)
2004
20
Allelic length of a CA dinucleotide repeat in the egfr gene correlates with the frequency of amplifications of this sequence--first results of an inter-ethnic breast cancer study. (15095477)
2004
21
Identification of transcription coactivator OCA-B-dependent genes involved in antigen-dependent B cell differentiation by cDNA array analyses. (12857960)
2003
22
Amantadine inhibits RANTES production by influenzavirus-infected human bronchial epithelial cells. (11181433)
2001
23
Intensify standardized therapy for esophageal and stomach cancer in tumor hospitals. (11819737)
2001
24
3D-QSAR CoMFA on cyclin-dependent kinase inhibitors. (11063606)
2000
25
Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies. (10417796)
1999
26
N-oxygenation of amphetamine and methamphetamine by the human flavin-containing monooxygenase (form 3): role in bioactivation and detoxication. (10027866)
1999
27
Alanine substitutions in calmodulin-binding peptides result in unexpected affinity enhancement. (8613992)
1996
28
Infantile eosinophilic pustular "folliculitis" in infancy: a nonfollicular disease. (8041667)
1994
29
Role of polymorphic debrisoquin 4-hydroxylase activity in the stereoselective disposition of mexiletine in humans. (8371133)
1993
30
Steroidal saponins from the rhizomes of Smilax sieboldii. (1369386)
1992
31
Intravenous diclofenac coupled with PCA fentanyl for pain relief after total hip replacement. (1736695)
1992
32
Cloning of the cDNA for the serine protease homolog CAP37/azurocidin, a microbicidal and chemotactic protein from human granulocytes. (1919011)
1991
33
Experimental and clinical study of activated platelet in allergic asthma]. (1806336)
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34
Rate and extent of interconversion of tetrahydrofolate cofactors to dihydrofolate after cessation of dihydrofolate reductase activity in stationary versus log phase L1210 leukemia cells. (1825999)
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35
Laboratory prediction of the carrier state in hemophilia B: role of replication of assays. (391020)
1979

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 (show all 11)
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.1252delCdeletionPathogenicrs864622651GRCh37Chr 17, 17119742: 17119742
3FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119709: 17119709
4FLCNNM_144997.5(FLCN): c.1285delC (p.His429Thrfs)deletionPathogenicrs80338683GRCh37Chr 17, 17119709: 17119709
5FLCNFLCN, 2-BP DEL, 632AG AND 1-BP INS, 632CindelPathogenic
6FLCNFLCN, 28-BP DUP, NT923duplicationPathogenic
7FLCNNM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter)single nucleotide variantPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
8FLCNFLCN, IVS4AS, A-G, -2single nucleotide variantPathogenic
9FLCNFLCN, 11-BP DEL, NT1301-2 AND 1-BP DEL/2-BP INS, NT1323indelPathogenic
10FLCNFLCN, 2-BP DEL/2-BP INS, NT610indelPathogenic
11FLCNNM_144997.5(FLCN): c.610_611delGCinsTA (p.Ala204Ter)indelPathogenicrs398124538GRCh37Chr 17, 17127243: 17127244

Cosmic variations for Birt-Hogg-Dube Syndrome:

7 (show top 50)    (show all 393)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM29043PTCH1skin,face,carcinoma,NS3
2COSM29046PTCH1skin,face,carcinoma,NS3
3COSM29043PTCH1skin,face,carcinoma,NS3
4COSM29040PTCH1skin,face,carcinoma,NS3
5COSM29033PTCH1skin,face,carcinoma,NS3
6COSM29040PTCH1skin,face,carcinoma,NS3
7COSM29046PTCH1skin,face,carcinoma,NS3
8COSM29053PTCH1skin,neck,carcinoma,NS3
9COSM29061PTCH1skin,face,carcinoma,NS3
10COSM29070PTCH1skin,face,carcinoma,NS3
11COSM29061PTCH1skin,face,carcinoma,NS3
12COSM29055PTCH1skin,face,carcinoma,NS3
13COSM29053PTCH1skin,neck,carcinoma,NS3
14COSM29055PTCH1skin,face,carcinoma,NS3
15COSM29033PTCH1skin,face,carcinoma,NS3
16COSM26363PTCH1skin,face,carcinoma,NS3
17COSM17585PTCH1skin,face,carcinoma,NS3
18COSM17585PTCH1skin,face,carcinoma,NS3
19COSM17582PTCH1skin,face,carcinoma,NS3
20COSM17582PTCH1skin,face,carcinoma,NS3
21COSM17533PTCH1skin,face,carcinoma,NS3
22COSM14439PTCH1skin,face,carcinoma,NS3
23COSM17598PTCH1skin,face,carcinoma,NS3
24COSM17598PTCH1skin,face,carcinoma,NS3
25COSM17600PTCH1skin,face,carcinoma,NS3
26COSM26363PTCH1skin,face,carcinoma,NS3
27COSM17600PTCH1skin,face,carcinoma,NS3
28COSM17599PTCH1skin,face,carcinoma,NS3
29COSM17599PTCH1skin,face,carcinoma,NS3
30COSM29070PTCH1skin,face,carcinoma,NS3
31COSM29071PTCH1skin,face,carcinoma,NS3
32COSM29048PTCH1skin,face,carcinoma,NS3
33COSM29048PTCH1skin,face,carcinoma,NS3
34COSM29048PTCH1skin,face,carcinoma,NS3
35COSM29048PTCH1skin,face,carcinoma,NS3
36COSM17498PTCH1skin,face,carcinoma,NS3
37COSM17498PTCH1skin,face,carcinoma,NS3
38COSM17584PTCH1skin,face,carcinoma,NS3
39COSM17584PTCH1skin,face,carcinoma,NS3
40COSM29072PTCH1skin,neck,carcinoma,NS3
41COSM29072PTCH1skin,neck,carcinoma,NS3
42COSM17522PTCH1skin,face,carcinoma,NS3
43COSM17522PTCH1skin,face,carcinoma,NS3
44COSM17601PTCH1skin,face,carcinoma,NS3
45COSM17601PTCH1skin,face,carcinoma,NS3
46COSM17511PTCH1skin,face,carcinoma,NS3
47COSM17511PTCH1skin,face,carcinoma,NS3
48COSM144232PTCH1skin,face,carcinoma,NS3
49COSM144239PTCH1skin,face,carcinoma,NS3
50COSM144232PTCH1skin,face,carcinoma,NS3

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 pathwaysScoreTop 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
78.8MET, MTOR, PTEN
8
Show member pathways
8.8MET, MTOR, PTEN
9
Show member pathways
8.8MET, MTOR, PTEN
10
Show member pathways
8.7CTNNB1, MET, MTOR
11
Show member pathways
8.4CTNNB1, MET, MTOR, PTEN
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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Biological processes related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein kinase B signalingGO:005189810.1FLCN, PTEN
2dorsal/ventral pattern formationGO:000995310.1CTNNB1, PTCH1
3regulation of osteoclast differentiationGO:004567010.0CTNNB1, MTOR
4cardiac muscle tissue developmentGO:004873810.0MTOR, PTEN
5cell fate determinationGO:00017099.9CTNNB1, PTCH1
6negative regulation of ERK1 and ERK2 cascadeGO:00703739.8FLCN, PTEN
7negative regulation of epithelial cell proliferationGO:00506809.8PTCH1, PTEN
8in utero embryonic developmentGO:00017019.7CTNNB1, FLCN, PTCH1
9negative regulation of protein phosphorylationGO:00019339.6MTOR, PTEN
10response to drugGO:00424939.5CTNNB1, PTCH1, PTEN
11social behaviorGO:00351769.3MTOR, PTEN
12response to organic cyclic compoundGO:00140709.2CTNNB1, PTCH1, PTEN

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