BHD
MCID: BRT002
MIFTS: 56

Birt-Hogg-Dube Syndrome (BHD) malady

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

Summaries for Birt-Hogg-Dube Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Birt-hogg-dube syndrome is a rare complex disorder that affects the skin and lungs and increases the risk of certain types of tumors. the condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. affected individuals are also predisposed to developing benign cysts in the lungs, pneumothorax, and cancerous or noncancerous tumors of the kidneys.birt hogg dube syndrome is caused by mutations in the flcn gene. the condition is inherited in an autosomal dominant fashion. last updated: 3/16/2010

MalaCards: Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to melanoma and colorectal cancer, somatic, and has symptoms including radiologic lung abnormalities/changes, pedunculated skin lesions and thyroid neoplasm/tumor/carcinoma/cancer. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (folliculin), and among its related pathways are Class I PI3K signaling events and Inositol phosphate metabolism. The compounds cyclopamine and cetuximab have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Genetics Home Reference:22 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.

Description from OMIM:48 135150

GeneReviews summary for bhd

Aliases & Classifications for Birt-Hogg-Dube Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 11DISEASES, 46Novoseek, 66Wikipedia, 20GeneReviews, 22Genetics Home Reference, 50Orphanet, 63UMLS, 21GeneTests, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
fibrofolliculomas with trichodiscomas and acrochordons:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

birt-hogg-dube syndrome 9 10 44 48 11 46
fibrofolliculomas with trichodiscomas and acrochordons 44 22 50
birt-hogg-dubé syndrome 20 22 50
hornstein-knickenberg syndrome 44 22
birt hogg dube syndrome 44 21
bhd 44 22
basal ganglia disease, biotin-responsive 63
hornstein-birt-hogg-dubé syndrome 22
birt–hogg–dubé syndrome 66
multiple fibrofolliculomas 63
bhd syndrome 44


External Ids:

Disease Ontology9 DOID:0050676
OMIM48 135150
MESH via Orphanet37 D058249
SNOMED-CT via Orphanet60 110985001
UMLS via Orphanet64 C0346010

Related Diseases for Birt-Hogg-Dube Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

135150

Clinical features from OMIM:

135150

Symptoms:

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

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Birt-Hogg-Dube Syndrome

Search NIH Clinical Center for Birt-Hogg-Dube Syndrome

Search CenterWatch for Birt-Hogg-Dube Syndrome

Genetic Tests for Birt-Hogg-Dube Syndrome

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21GeneTests
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Genetic tests related to Birt-Hogg-Dube Syndrome:

id Genetic test Affiliating Genes
1 Birt-Hogg-Dube Syndrome21 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

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34MalaCards
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MalaCards organs/tissues related to Birt-Hogg-Dube Syndrome:

34
Skin, Lung, Kidney, Salivary gland, Thyroid

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

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38MGI
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Publications for Birt-Hogg-Dube Syndrome

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53PubMed
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Articles related to Birt-Hogg-Dube Syndrome:

(show all 33)
idTitleAuthorsYear
1
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
2
Birt-Hogg-Dube syndrome is a novel ciliopathy. (23784378)
2013
3
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. (23223565)
2013
4
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. (23904515)
2013
5
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. (23050938)
2012
6
Birt-Hogg-Dube syndrome. (22906666)
2012
7
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. (21538689)
2011
8
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. (21466061)
2011
9
Thoracic CT findings in Birt-Hogg-Dube syndrome. (21257886)
2011
10
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. (20413710)
2010
11
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. (20392792)
2010
12
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. (19785621)
2010
13
Association between Birt Hogg Dube syndrome and cancer predisposition. (20392993)
2010
14
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. (19659657)
2009
15
Dermoscopic features of Birt-Hogg-Dube syndrome. (19841421)
2009
16
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. (19101904)
2008
17
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
18
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. (17903168)
2007
19
Cystic lung disease in Birt-Hogg-Dube syndrome. (17505035)
2007
20
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. (16928562)
2006
21
Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. (15746620)
2005
22
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. (15852235)
2005
23
Birt-Hogg-Dube syndrome. (15748585)
2004
24
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12771781)
2003
25
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. (12352424)
2002
26
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
27
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. (11836379)
2002
28
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. (12358810)
2002
29
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. (11737429)
2001
30
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. (11176677)
2001
31
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. (9452372)
1997
32
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. (8734663)
1996
33
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Birt-Hogg-Dube Syndrome:

65
id Symbol AA change Variation ID SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029

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

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119708: 17119709
2FLCNNM_144997.5(FLCN): c.1285delC (p.His429Thrfs)deletionPathogenicrs80338683GRCh37Chr 17, 17119709: 17119709
3FLCNFLCN, 2-BP DEL, 632AG AND 1-BP INS, 632CindelPathogenic
4FLCNFLCN, 28-BP DUP, NT923duplicationPathogenic
5FLCNNM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter)single nucleotide variantPathogenicrs137852929GRCh37Chr 17, 17118542: 17118542
6FLCNFLCN, IVS4AS, A-G, -2single nucleotide variantPathogenic
7FLCNFLCN, 11-BP DEL, NT1301-2 AND 1-BP DEL/2-BP INS, NT1323indelPathogenic
8FLCNFLCN, 2-BP DEL/2-BP INS, NT610indelPathogenic
9SLC19A3NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val)single nucleotide variantPathogenicrs121917882GRCh37Chr 2, 228566967: 228566967
10SLC19A3NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala)single nucleotide variantPathogenicrs121917884GRCh37Chr 2, 228552932: 228552932
11SLC19A3NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu)single nucleotide variantPathogenicrs137852957GRCh37Chr 2, 228566905: 228566905
12SLC19A3NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852958GRCh37Chr 2, 228563473: 228563473
13FLCNNM_144997.5(FLCN): c.610_611delGCinsTA (p.Ala204Ter)indelPathogenicrs398124538GRCh37Chr 17, 17127243: 17127244

Expression for genes affiliated with Birt-Hogg-Dube Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Birt-Hogg-Dube Syndrome

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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 52PharmGKB, 58SinoBiological, 31KEGG, 54QIAGEN, 61Thomson Reuters
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Pathways related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTEN, PLCG2
2
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis39
inositol pyrophosphates biosynthesis39
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis39
9.3PLCG2, PTEN
3
Show member pathways
9.3PLCG2, PTEN
49.0PTCH1, PLCG2, CTNNB1
59.0CTNNB1, EIF2AK2, PTEN
6
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.9CTNNB1, PLCG2, PTEN
7
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
8.9CTNNB1, PLCG2, PTEN
88.9CTNNB1, PLCG2, PTEN
9
Show member pathways
Signaling Pathways in Glioblastoma39
8.9PTEN, PLCG2, CTNNB1
10
Show member pathways
8.7CTNNB1, RAB27B, PTEN
118.5CTNNB1, PLCG2, PTCH1, PTEN

Compounds for genes affiliated with Birt-Hogg-Dube Syndrome

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46Novoseek, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1cyclopamine46 6210.9CTNNB1, PTCH1
2cetuximab46 52 1211.7PTEN, CTNNB1
3crcs469.7PTEN, CTNNB1
4bicalutamide46 62 1211.7PTEN, CTNNB1
51-Phosphatidyl-D-myo-inositol259.6PTEN, PLCG2
6indole-3-carbinol469.6CTNNB1, PTEN
7rapamycin469.4CTNNB1, FLCN, PTEN
8gefitinib46 52 1211.3CTNNB1, EIF2AK2, PTEN
9arsenite46 2510.3CTNNB1, EIF2AK2, PTEN
10trastuzumab46 52 1211.2CTNNB1, PTEN
11inositol469.2PTEN, PLCG2, CTNNB1
12phosphotyrosine469.2CTNNB1, PLCG2, PTEN
13ly294002469.0CTNNB1, PLCG2, PTEN
14paraffin469.0PTEN, PTCH1, CTNNB1
15wortmannin469.0PTEN, PLCG2, CTNNB1
16aspartate469.0CTNNB1, EIF2AK2, PTEN
17phosphoinositide468.9CTNNB1, PLCG2, PTEN
18atp46 309.6CTNNB1, EIF2AK2, PLCG2, PTEN
19tyrosine468.2PTEN, PTCH1, PLCG2, EIF2AK2, CTNNB1

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

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17Gene Ontology
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Cellular components related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.5CTNNB1, PTEN

Biological processes related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein kinase B signalingGO:0518989.8FLCN, PTEN
2embryonic limb morphogenesisGO:0303269.7CTNNB1, PTCH1
3negative regulation of epithelial cell proliferationGO:0506809.4PTCH1, PTEN
4inositol phosphate metabolic processGO:0436479.4PLCG2, PTEN
5phosphatidylinositol biosynthetic processGO:0066619.3PLCG2, PTEN
6positive regulation of apoptotic processGO:0430659.3CTNNB1, FLCN, PTEN
7response to estradiolGO:0323559.3CTNNB1, PTCH1, PTEN
8branching involved in ureteric bud morphogenesisGO:0016589.3CTNNB1, PTCH1
9response to drugGO:0424939.2PTEN, PTCH1, CTNNB1
10negative regulation of cell proliferationGO:0082859.0PTEN, EIF2AK2, CTNNB1
11innate immune responseGO:0450878.6PTEN, PLCG2, EIF2AK2, CTNNB1

Molecular functions related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.3CTNNB1, FLCN, PTCH1

Products for genes affiliated with Birt-Hogg-Dube Syndrome

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Sources for Birt-Hogg-Dube Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet