BHD
MCID: BRT002
MIFTS: 51

Birt-Hogg-Dube Syndrome (BHD) malady

Nephrological, Skin, Cancer categories

Summaries for Birt-Hogg-Dube Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 adenoma and lymphangioleiomyomatosis, and has symptoms including autosomal dominant inheritance, retinitis pigmentosa/retinal pigmentary changes and emphysema. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (folliculin), and among its related pathways are Synthesis of IP3 and IP4 in the cytosol and Class I PI3K signaling events. The compounds cyclopamine and cetuximab have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related mouse phenotypes are renal/urinary system 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:47 135150

GeneReviews summary for bhd

Aliases & Classifications for Birt-Hogg-Dube Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 19GeneReviews, 61UMLS, 20GeneTests, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Nephrological, Skin


Characteristics (Orphanet epidemiological data):

49
birt-hogg-dube syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

birt-hogg-dube syndrome 8 9 43 47 10 45 49
fibrofolliculomas with trichodiscomas and acrochordons 43 49
birt hogg dube syndrome 43 20
basal ganglia disease, biotin-responsive 61
biotin-responsive basal ganglia disease 19
thiamine transporter-2 deficiency 19
hornstein-knickenberg syndrome 43
multiple fibrofolliculomas 61
birt-hogg-dubé syndrome 19
bhd syndrome 43
btbgd 19
bhd 43


External Ids:

Disease Ontology8 DOID:0050676
OMIM47 135150
MESH via Orphanet36 D058249
SNOMED-CT via Orphanet58 110985001
UMLS via Orphanet62 C0346010

Related Diseases for Birt-Hogg-Dube Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Birt-Hogg-Dube Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.6CTNNB1
2lymphangioleiomyomatosis30.6MTOR
3colorectal cancer29.9CTNNB1, PTEN
4birt-hogg-dub� syndrome11.2
5birt–hogg–dubé syndrome11.2
6biotin-responsive basal ganglia disease11.0
7basal ganglia disease10.9
8biotin-thiamine-responsive basal ganglia disease10.6
9chromophobe renal cell carcinoma10.6
10kid syndrome10.6
11spontaneous pneumothorax10.6
12familial melanoma10.4
13beckwith-wiedemann syndrome10.4
14n syndrome10.4
15angiolipoma10.4
16supernumerary nipples10.4
17atypical mole syndrome10.4
18radio renal syndrome10.4
19primary spontaneous pneumothorax10.4
20renal cell carcinoma, clear cell, somatic10.4
21familial supernumerary nipples10.4
22leigh disease10.4
23biotin deficiency10.4
24thiamine-responsive megaloblastic anemia syndrome10.4
25thiamine metabolism dysfunction syndrome 210.4
26multiple fibrofolliculoma familial10.4
27bobble-head doll syndrome10.3
28multiple fibroadenomas of the breast10.1
29juvenile polyposis syndrome10.0PTEN
30hepatoblastoma10.0CTNNB1
31astrocytoma10.0PTEN
32osteosarcoma10.0EIF2AK2
33large cell carcinoma10.0
34german syndrome10.0
35fibromatosis10.0
36male germ cell tumor10.0
37hyperglycemia10.0MTOR
38familial adenomatous polyposis10.0CTNNB1, PTCH1
39skin benign neoplasm10.0FLCN, PTCH1
40thyroid cancer10.0PTEN, PTCH1
41turcot syndrome10.0PTEN, CTNNB1
42lung cancer10.0MTOR, PTEN
43basal cell carcinoma10.0PTCH1
44tuberous sclerosis10.0PTEN, MTOR
45endometrial carcinoma10.0PTEN, CTNNB1
46thyroid cancer, anaplastic10.0PTEN, CTNNB1
47acute leukemia10.0MTOR, EIF2AK2
48kidney rhabdoid cancer10.0FLCN, MTOR
49papillary thyroid carcinoma10.0PTCH1, PTEN, CTNNB1
50leukemia10.0EIF2AK2, MTOR

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



Diseases related to birt-hogg-dube syndrome

Clinical Features for Birt-Hogg-Dube Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

135150

Clinical synopsis from OMIM:

135150

Symptoms:

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

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Birt-Hogg-Dube Syndrome

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

Sources:
20GeneTests
See all sources

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

Sources:
33MalaCards
See all sources

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

33
Skin, Kidney, Lung

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Birt-Hogg-Dube Syndrome

Sources:
51PubMed
See all sources

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

Genetic Variations for Birt-Hogg-Dube Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Birt-Hogg-Dube Syndrome:

63
id Symbol AA change Variation SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029

Expression for genes affiliated with Birt-Hogg-Dube Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology
See all sources

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5PTEN, PLCG2
29.5PTEN, PLCG2
3
Hide members
9.5PTEN, PLCG2
49.1PTEN, PLCG2, CTNNB1
5
Hide members
9.1PTEN, PLCG2, CTNNB1
69.1PTEN, EIF2AK2, CTNNB1
79.0PTEN, MTOR, CTNNB1
8
Development Endothelin-1/EDNRA signaling
Hide members
9.0PTEN, MTOR, CTNNB1
9
Hide members
9.0PTEN, MTOR, CTNNB1
10
Transcription Androgen Receptor nuclear signaling
Hide members
9.0CTNNB1, MTOR, PTEN
119.0FLCN, MTOR, EIF2AK2
128.9PTEN, PLCG2, MTOR
13
Hide members
8.9PTEN, PLCG2, MTOR
14
Hide members
8.9MTOR, PLCG2, PTEN
15
Hide members
8.9MTOR, PLCG2, PTEN
16
Translation Insulin regulation of translation
Hide members
8.9MTOR, EIF2AK2, PTEN
17
Immune response IFN gamma signaling pathway
Hide members
8.8PLCG2, EIF2AK2, MTOR
18
Hide members
8.8PTEN, RAB27B, CTNNB1
198.5CTNNB1, MTOR, PLCG2, PTCH1
20
Hide members
8.5PTEN, PLCG2, MTOR, CTNNB1
21
Hide members
8.1PTEN, PLCG2, MTOR, FLCN, CTNNB1
228.1CTNNB1, MTOR, PLCG2, PTEN, PTCH1

Compounds for genes affiliated with Birt-Hogg-Dube Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 2BitterDB
See all sources

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

(show all 33)
idCompoundScoreTop Affiliating Genes
1cyclopamine45 6011.1PTCH1, CTNNB1
2cetuximab45 50 1111.9PTEN, CTNNB1
3crcs459.9PTEN, CTNNB1
4bicalutamide45 60 1111.9PTEN, CTNNB1
5indole-3-carbinol459.8CTNNB1, PTEN
6taxane459.7MTOR, PTEN
7erlotinib45 50 1111.6PTEN, MTOR
8mitoxantrone45 50 1111.5MTOR, PTEN
9inositol459.5PTEN, PLCG2, CTNNB1
10phosphotyrosine459.4CTNNB1, PLCG2, PTEN
11imatinib45 50 1111.3CTNNB1, MTOR, PTEN
125fluorouracil459.3CTNNB1, MTOR, PTEN
13tamoxifen45 50 29 1112.3CTNNB1, MTOR, PTEN
14okadaic acid45 6010.2PTEN, EIF2AK2, MTOR
15paraffin459.1CTNNB1, PTEN, PTCH1
16pd 98,059459.1CTNNB1, MTOR, PTEN
17doxorubicin45 50 1111.1PTEN, MTOR, CTNNB1
18rapamycin459.0PTEN, MTOR, FLCN, CTNNB1
19glycogen45 2410.0PTEN, MTOR, CTNNB1
20arachidonic acid45 29 11 2411.9PLCG2, MTOR, CTNNB1
21gefitinib45 50 1110.9PTEN, EIF2AK2, MTOR, CTNNB1
22arsenite45 249.9CTNNB1, MTOR, EIF2AK2, PTEN
23ly294002458.9CTNNB1, MTOR, PLCG2, PTEN
24wortmannin458.9PTEN, PLCG2, MTOR, CTNNB1
25phosphoinositide458.8CTNNB1, MTOR, PLCG2, PTEN
26arginine458.8PTEN, EIF2AK2, MTOR, CTNNB1
27phosphatidylinositol458.8CTNNB1, MTOR, PLCG2, PTEN
28threonine458.8PTEN, EIF2AK2, MTOR, CTNNB1
29genistein45 29 60 2 11 2413.7PTEN, MTOR, CTNNB1
30retinoic acid45 249.6PTEN, EIF2AK2, MTOR, CTNNB1
31atp45 299.3CTNNB1, MTOR, EIF2AK2, PLCG2, PTEN
32serine458.3PTEN, PLCG2, EIF2AK2, MTOR, CTNNB1
33tyrosine458.0CTNNB1, MTOR, EIF2AK2, PLCG2, PTEN, PTCH1

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

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1internal side of plasma membraneGO:0098989.6PTEN, CTNNB1

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 signaling cascadeGO:0518989.8FLCN, PTEN
2embryonic limb morphogenesisGO:0303269.8PTCH1, CTNNB1
3TOR signaling cascadeGO:0319299.7MTOR, FLCN
4negative regulation of epithelial cell proliferationGO:0506809.6PTCH1, PTEN
5negative regulation of cell sizeGO:0457929.6MTOR, PTEN
6branching involved in ureteric bud morphogenesisGO:0016589.6CTNNB1, PTCH1
7inositol phosphate metabolic processGO:0436479.6PTEN, PLCG2
8phosphatidylinositol biosynthetic processGO:0066619.5PTEN, PLCG2
9Fc-epsilon receptor signaling pathwayGO:0380959.1PTEN, PLCG2, MTOR
10negative regulation of cell proliferationGO:0082858.8PTEN, EIF2AK2, CTNNB1
11innate immune responseGO:0450878.2PTEN, PLCG2, EIF2AK2, MTOR, CTNNB1

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.0PTCH1, FLCN, CTNNB1
2protein bindingGO:0055157.2FLCN, MTOR, EIF2AK2, PLCG2, PTEN, PTCH1

Products for genes affiliated with Birt-Hogg-Dube Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Birt-Hogg-Dube Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet