BHD
MCID: BRT002
MIFTS: 59

Birt-Hogg-Dube Syndrome (BHD) malady

Nephrological diseases, Skin diseases, Cancer diseases categories

Summaries for Birt-Hogg-Dube Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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: Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to adenoma and lymphangioleiomyomatosis, 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 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, lung and kidney, 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:46 135150

GeneReviews summary for bhd

Aliases & Classifications for Birt-Hogg-Dube Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 19GeneReviews, 21Genetics Home Reference, 60UMLS, 20GeneTests, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
birt-hogg-dube syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

birt-hogg-dube syndrome 8 9 42 46 10 44 48
fibrofolliculomas with trichodiscomas and acrochordons 42 21 48
hornstein-knickenberg syndrome 42 21
birt-hogg-dubé syndrome 19 21
birt hogg dube syndrome 42 20
bhd 42 21
basal ganglia disease, biotin-responsive 60
hornstein-birt-hogg-dubé syndrome 21
multiple fibrofolliculomas 60
bhd syndrome 42


External Ids:

Disease Ontology8 DOID:0050676
OMIM46 135150
MESH via Orphanet35 D058249
SNOMED-CT via Orphanet57 110985001
UMLS via Orphanet61 C0346010

Related Diseases for Birt-Hogg-Dube Syndrome

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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.6CTNNB1
2lymphangioleiomyomatosis30.6MTOR
3melanoma30.6PTCH1, PTEN, EIF2AK2, MTOR, CTNNB1
4colorectal cancer29.9CTNNB1, PTEN
5biotin-responsive basal ganglia disease10.8
6pneumothorax10.7
7basal ganglia disease10.6
8biotin-thiamine-responsive basal ganglia disease10.6
9renal cell carcinoma10.6
10familial melanoma10.4
11beckwith-wiedemann syndrome10.4
12angiolipoma10.4
13histiocytosis10.4
14kidney cancer10.4
15langerhans-cell histiocytosis10.4
16lipoma10.4
17parathyroid adenoma10.4
18primary spontaneous pneumothorax10.4
19renal cell carcinoma, clear cell, somatic10.4
20biotin deficiency10.4
21multiple fibrofolliculoma familial10.3
22bobble-head doll syndrome10.3
23multiple fibroadenomas of the breast10.1
24juvenile polyposis syndrome10.0PTEN
25hepatoblastoma10.0CTNNB1
26astrocytoma10.0PTEN
27osteosarcoma10.0EIF2AK2
28hyperglycemia10.0MTOR
29familial adenomatous polyposis10.0CTNNB1, PTCH1
30skin benign neoplasm10.0PTCH1, FLCN
31thyroid cancer10.0PTCH1, PTEN
32turcot syndrome10.0CTNNB1, PTEN
33lung cancer10.0PTEN, MTOR
34basal cell carcinoma10.0PTCH1
35tuberous sclerosis10.0PTEN, MTOR
36endometrial carcinoma10.0PTEN, CTNNB1
37thyroid cancer, anaplastic10.0CTNNB1, PTEN
38acute leukemia10.0EIF2AK2, MTOR
39kidney rhabdoid cancer10.0MTOR, FLCN
40papillary thyroid carcinoma10.0CTNNB1, PTEN, PTCH1
41leukemia10.0EIF2AK2, MTOR
42stomach cancer10.0PTCH1, PTEN, CTNNB1
43adenocarcinoma10.0CTNNB1, PTEN, PTCH1
44colon cancer10.0PTCH1, PTEN, CTNNB1
45pancreatic cancer10.0PTCH1, MTOR, CTNNB1
46peutz-jeghers syndrome10.0CTNNB1, MTOR, PTEN
47ovarian cancer10.0CTNNB1, MTOR, PTEN
48glioblastoma multiforme10.0MTOR, EIF2AK2, PTEN, PTCH1
49large cell carcinoma10.0
50cystadenocarcinoma10.0

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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

135150

Clinical synopsis from OMIM:

135150

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Birt-Hogg-Dube Syndrome:

32
Skin, Lung, Kidney, Salivary gland, Thyroid

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

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36MGI
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Publications for Birt-Hogg-Dube Syndrome

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50PubMed
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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

Genetic Variations for Birt-Hogg-Dube Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Birt-Hogg-Dube Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FLCNp.Ser108IleVAR_066023
2FLCNp.Lys508ArgVAR_066029

Expression for genes affiliated with Birt-Hogg-Dube Syndrome

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
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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
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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

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44Novoseek, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Birt-Hogg-Dube Syndrome according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1cyclopamine44 5911.1PTCH1, CTNNB1
2cetuximab44 49 1111.9PTEN, CTNNB1
3crcs449.9PTEN, CTNNB1
4bicalutamide44 59 1111.9PTEN, CTNNB1
5indole-3-carbinol449.8CTNNB1, PTEN
6taxane449.7MTOR, PTEN
7erlotinib44 49 1111.6PTEN, MTOR
8mitoxantrone44 49 1111.5MTOR, PTEN
9inositol449.5PTEN, PLCG2, CTNNB1
10phosphotyrosine449.4CTNNB1, PLCG2, PTEN
11imatinib44 49 1111.3CTNNB1, MTOR, PTEN
125fluorouracil449.3CTNNB1, MTOR, PTEN
13tamoxifen44 49 28 1112.3CTNNB1, MTOR, PTEN
14okadaic acid44 5910.2PTEN, EIF2AK2, MTOR
15paraffin449.1CTNNB1, PTEN, PTCH1
16pd 98,059449.1CTNNB1, MTOR, PTEN
17doxorubicin44 49 1111.1PTEN, MTOR, CTNNB1
18rapamycin449.0PTEN, MTOR, FLCN, CTNNB1
19glycogen44 2410.0PTEN, MTOR, CTNNB1
20arachidonic acid44 28 11 2411.9PLCG2, MTOR, CTNNB1
21gefitinib44 49 1110.9PTEN, EIF2AK2, MTOR, CTNNB1
22arsenite44 249.9CTNNB1, MTOR, EIF2AK2, PTEN
23ly294002448.9CTNNB1, MTOR, PLCG2, PTEN
24wortmannin448.9PTEN, PLCG2, MTOR, CTNNB1
25phosphoinositide448.8CTNNB1, MTOR, PLCG2, PTEN
26arginine448.8PTEN, EIF2AK2, MTOR, CTNNB1
27phosphatidylinositol448.8CTNNB1, MTOR, PLCG2, PTEN
28threonine448.8PTEN, EIF2AK2, MTOR, CTNNB1
29genistein44 28 59 2 11 2413.7PTEN, MTOR, CTNNB1
30retinoic acid44 249.6PTEN, EIF2AK2, MTOR, CTNNB1
31atp44 289.3CTNNB1, MTOR, EIF2AK2, PLCG2, PTEN
32serine448.3PTEN, PLCG2, EIF2AK2, MTOR, CTNNB1
33tyrosine448.0CTNNB1, MTOR, EIF2AK2, PLCG2, PTEN, PTCH1

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

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet