BHD
MCID: BRT002
MIFTS: 57

Birt-Hogg-Dube Syndrome (BHD) malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases categories
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Summaries for Birt-Hogg-Dube Syndrome

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NIH Rare Diseases:42 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 based summary: Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to colorectal cancer, somatic and melanoma, and has symptoms including follicular/erythematous/edematous papules/milium, pedunculated skin lesions and emphysema. 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 pigmentation and limbs/digits/tail.

Genetics Home Reference:21 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:46 135150

GeneReviews summary for bhd

Aliases & Classifications for Birt-Hogg-Dube Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 65Wikipedia, 19GeneReviews, 21Genetics Home Reference, 48Orphanet, 20GeneTests, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Birt-Hogg-Dube Syndrome, Aliases & Descriptions:

Name: Birt-Hogg-Dube Syndrome 8 9 42 46 10 44
Fibrofolliculomas with Trichodiscomas and Acrochordons 42 21 48
Hornstein-Knickenberg Syndrome 42 21 62
Birt-Hogg-Dubé Syndrome 19 21 48
Birt Hogg Dube Syndrome 42 20
 
Bhd 42 21
Hornstein-Birt-Hogg-Dubé Syndrome 21
Birt–hogg–dubé Syndrome 65
Multiple Fibrofolliculomas 62
Bhd Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
fibrofolliculomas with trichodiscomas and acrochordons:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:0050676
OMIM46 135150
MESH via Orphanet35 D058249
UMLS via Orphanet63 C0346010

Related Diseases for Birt-Hogg-Dube Syndrome

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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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Symptoms by clinical synopsis from OMIM:

135150

Clinical features from OMIM:

135150

Symptoms:

48 (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 abnormality of the skin hallmark (90%) HP:0000951
2 emphysema hallmark (90%) HP:0002097
3 multiple lipomas typical (50%) HP:0001012
4 abnormal 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

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

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Drug clinical trials:

Search ClinicalTrials for Birt-Hogg-Dube Syndrome

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 Syndrome20 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

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

32
Skin, Lung, Kidney, Thyroid, Salivary gland

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

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Publications for Birt-Hogg-Dube Syndrome

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Articles related to Birt-Hogg-Dube Syndrome:

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

64
id Symbol AA change Variation ID SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029

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

6
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
9FLCNNM_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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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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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 biosynthesis37
inositol pyrophosphates biosynthesis37
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis37
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 adhesion37
Focal Adhesion37
8.9CTNNB1, PLCG2, PTEN
7
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.9CTNNB1, PLCG2, PTEN
88.9CTNNB1, PLCG2, PTEN
9
Show member pathways
Signaling Pathways in Glioblastoma37
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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Compounds related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1cyclopamine44 6110.9CTNNB1, PTCH1
2cetuximab44 50 1111.7PTEN, CTNNB1
3crcs449.7PTEN, CTNNB1
4bicalutamide44 61 1111.7PTEN, CTNNB1
51-Phosphatidyl-D-myo-inositol249.6PTEN, PLCG2
6indole-3-carbinol449.6CTNNB1, PTEN
7rapamycin449.4CTNNB1, FLCN, PTEN
8gefitinib44 50 1111.3CTNNB1, EIF2AK2, PTEN
9arsenite44 2410.3CTNNB1, EIF2AK2, PTEN
10trastuzumab44 50 1111.2CTNNB1, PTEN
11inositol449.2PTEN, PLCG2, CTNNB1
12phosphotyrosine449.2CTNNB1, PLCG2, PTEN
13ly294002449.0CTNNB1, PLCG2, PTEN
14paraffin449.0PTEN, PTCH1, CTNNB1
15wortmannin449.0PTEN, PLCG2, CTNNB1
16aspartate449.0CTNNB1, EIF2AK2, PTEN
17phosphoinositide448.9CTNNB1, PLCG2, PTEN
18atp44 289.6CTNNB1, EIF2AK2, PLCG2, PTEN
19tyrosine448.2PTEN, PTCH1, PLCG2, EIF2AK2, CTNNB1

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/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet