BHD
MCID: BRT002
MIFTS: 54

Birt-Hogg-Dube Syndrome (BHD)

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

Aliases & Classifications for Birt-Hogg-Dube Syndrome

MalaCards integrated aliases for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 58 12 77 54 76 38 13 56 45 15 41
Fibrofolliculomas with Trichodiscomas and Acrochordons 58 54 26 60 76
Birt-Hogg-Dubé Syndrome 77 25 26 60
Bhd 58 54 26 76
Hornstein-Knickenberg Syndrome 58 54 26
Birt-Hogg-Dub Syndrome 30 6
Hornstein-Birt-Hogg-Dubé Syndrome 26
Multiple Fibrofolliculomas 74
Birt Hogg Dube Syndrome 54
Bhd Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
birt-hogg-dubé syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
features usually appear during adulthood
mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
see also isolated pneumothorax , an allelic disorder that may represent a mild form of the bhd syndrome


HPO:

33
birt-hogg-dube syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Based on the three major clinical manifestations, penetrance of bhds is considered to be very high...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050676
OMIM 58 135150
KEGG 38 H00818
MeSH 45 D058249
MESH via Orphanet 46 D058249
UMLS via Orphanet 75 C0346010
Orphanet 60 ORPHA122
MedGen 43 C0346010
UMLS 74 C0346010

Summaries for Birt-Hogg-Dube Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to pneumothorax, primary spontaneous and pneumothorax. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways/superpathways are Pathways in cancer and mTOR signaling pathway (KEGG). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and kidney, and related phenotypes are emphysema and papule

Disease Ontology : 12 An autosomal dominant disease that is characterized by the development of skin papules on the head, face and upper torso, has material basis in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.

Genetics Home Reference : 26 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 : 58 Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340). (135150)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome,... more...

GeneReviews: NBK1522

Related Diseases for Birt-Hogg-Dube Syndrome

Diseases related to Birt-Hogg-Dube Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 pneumothorax, primary spontaneous 33.4 FLCN FNIP1
2 pneumothorax 30.7 FLCN FNIP1 FNIP2
3 thyroid cancer 30.3 CTNNB1 PTCH1 PTEN
4 beukes hip dysplasia 12.0
5 bobble-head doll syndrome 11.9
6 discoid fibromas, familial multiple 11.7
7 renal oncocytoma 11.7
8 renal cell carcinoma, nonpapillary 10.6
9 chromophobe renal cell carcinoma 10.6
10 cystic disease of lung 10.5
11 papilloma 10.5
12 pneumonia 10.5
13 beckwith-wiedemann syndrome 10.5
14 thyroid carcinoma, familial medullary 10.5
15 tuberous sclerosis 1 10.5
16 pulmonary arteriovenous fistulas 10.5
17 incontinentia pigmenti 10.5
18 oncocytoma 10.5
19 langerhans cell histiocytosis 10.5
20 lymphangioleiomyomatosis 10.5
21 arteriovenous malformation 10.5
22 tuberous sclerosis 10.5
23 melanoma 10.5
24 perivascular epithelioid cell tumor 10.5
25 angiomyolipoma 10.5
26 histiocytosis 10.5
27 lung disease 10.5
28 pulmonary arteriovenous malformation 10.5
29 kidney cancer 10.3
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2 FLCN PTEN
31 familial renal oncocytoma 10.2 FH FLCN
32 polycystic liver disease 1 with or without kidney cysts 10.2 FLCN PTCH1
33 hereditary renal cell carcinoma 10.2 FH FLCN
34 familial renal papillary carcinoma 10.1 FH FLCN
35 female reproductive endometrioid cancer 10.1 CTNNB1 PTEN
36 central nervous system cancer 10.1 PTCH1 PTEN
37 nodular medulloblastoma 10.1 CTNNB1 PTCH1
38 mismatch repair cancer syndrome 10.1 CTNNB1 PTEN
39 nervous system cancer 10.1 PTCH1 PTEN
40 kidney angiomyolipoma 10.1 FLCN FNIP1
41 peutz-jeghers syndrome 10.1 CTNNB1 PTEN
42 uterine anomalies 10.1 CTNNB1 PTEN
43 brachydactyly, type b1 10.1 CTNNB1 PTCH1
44 infratentorial cancer 10.1 CTNNB1 PTCH1
45 carcinosarcoma 10.1 CTNNB1 PTEN
46 anaplastic thyroid cancer 10.0 CTNNB1 PTEN
47 male reproductive organ cancer 10.0 CTNNB1 PTEN
48 cell type benign neoplasm 10.0 CTNNB1 FH
49 female reproductive system disease 10.0 CTNNB1 PTEN
50 colorectal cancer 10.0

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



Diseases related to Birt-Hogg-Dube Syndrome

Symptoms & Phenotypes for Birt-Hogg-Dube Syndrome

Human phenotypes related to Birt-Hogg-Dube Syndrome:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
2 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
3 skin tags 60 33 hallmark (90%) Very frequent (99-80%) HP:0010609
4 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
5 multiple lipomas 60 33 frequent (33%) Frequent (79-30%) HP:0001012
6 pulmonary sequestration 60 33 frequent (33%) Frequent (79-30%) HP:0100632
7 renal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0005584
8 parathyroid adenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002897
9 pneumothorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0002107
10 medullary thyroid carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002865
11 fibrofolliculoma 33 very rare (1%) HP:0030436
12 spontaneous pneumothorax 33 HP:0002108
13 abnormality of the hair 33 HP:0001595
14 renal cyst 33 HP:0000107
15 renal neoplasm 33 HP:0009726
16 abnormality of abdomen morphology 33 HP:0001438

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
renal cysts
renal tumors (in about 27% of patients)

Respiratory Lung:
lung cysts (in about 80% of patients)
bullous disease
spontaneous pneumothorax (in about 30% of patients)

Skin Nails Hair Skin:
fibrofolliculomas
acrochordons (skin tag)

Neoplasia:
renal carcinoma
parotid oncocytomas
neural tissue tumors
lipomas
angiolipomas

Head And Neck Face:
facial papules

Abdomen Gastrointestinal:
colonic polyps
colorectal adenomas

Skin Nails Hair Hair:
trichodiscomas (tumor of the hair disc)

Clinical features from OMIM:

135150

MGI Mouse Phenotypes related to Birt-Hogg-Dube Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.95 CTNNB1 FH FLCN FNIP1 FNIP2 PTCH1
2 homeostasis/metabolism MP:0005376 9.91 CTNNB1 FH FLCN FNIP1 FNIP2 PTCH1
3 mortality/aging MP:0010768 9.87 CTNNB1 FH FLCN FNIP1 FNIP2 PTCH1
4 cardiovascular system MP:0005385 9.83 CTNNB1 FLCN FNIP1 PTCH1 PTEN
5 neoplasm MP:0002006 9.73 CTNNB1 FLCN FNIP1 FNIP2 PTCH1 PTEN
6 renal/urinary system MP:0005367 9.5 CTNNB1 FH FLCN FNIP1 FNIP2 PTCH1
7 pigmentation MP:0001186 9.33 CTNNB1 PTCH1 PTEN
8 taste/olfaction MP:0005394 8.8 CTNNB1 PTCH1 PTEN

Drugs & Therapeutics for Birt-Hogg-Dube Syndrome

Drugs for Birt-Hogg-Dube Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177 70789204
4 Anti-Bacterial Agents Phase 3,Phase 2
5 Anti-Infective Agents Phase 3,Phase 2
6 Immunosuppressive Agents Phase 3,Phase 2
7 Immunologic Factors Phase 3,Phase 2
8 Antibiotics, Antitubercular Phase 3,Phase 2
9 Antifungal Agents Phase 3,Phase 2
10 Pharmaceutical Solutions Phase 3
11
Lactitol Investigational Phase 2 585-86-4, 585-88-6 493591

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical Rapamycin for Fibrofolliculomas Completed NCT00928798 Phase 3 Rapamycin;placebo
2 Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer Terminated NCT02504892 Phase 2 Everolimus
3 Prevalence of Spontaneous Pneumothorax in BHD Unknown status NCT02916992 Phase 1
4 Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome Unknown status NCT03040115
5 Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer Recruiting NCT00033137
6 MyVHL: Patient Natural History Study Recruiting NCT03749980

Search NIH Clinical Center for Birt-Hogg-Dube Syndrome

Cochrane evidence based reviews: birt-hogg-dube syndrome

Genetic Tests for Birt-Hogg-Dube Syndrome

Genetic tests related to Birt-Hogg-Dube Syndrome:

# Genetic test Affiliating Genes
1 Birt-Hogg-Dub Syndrome 30

Anatomical Context for Birt-Hogg-Dube Syndrome

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

42
Skin, Lung, Kidney, Colon, Thyroid, Adrenal Gland

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show top 50) (show all 66)
# Title Authors Year
1
Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review. ( 30632664 )
2019
2
Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome. ( 30640787 )
2019
3
Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images. ( 30673341 )
2019
4
Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome. ( 30696655 )
2019
5
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome. ( 30845233 )
2019
6
Birt-Hogg-Dubé syndrome in the elderly. ( 30873309 )
2019
7
Isolated Cystic Lung Disease: An Algorithmic Approach to Distinguishing Birt-Hogg-Dubé Syndrome, Lymphangioleiomyomatosis, and Lymphocytic Interstitial Pneumonia. ( 30888864 )
2019
8
Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome. ( 29930184 )
2018
9
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
10
A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. ( 30083407 )
2018
11
A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis. ( 30325331 )
2018
12
Renal transplantation in Birt-Hogg-Dubé syndrome: should we? ( 30326848 )
2018
13
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up. ( 30360018 )
2018
14
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene. ( 30533232 )
2018
15
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome. ( 30586397 )
2018
16
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2017
17
Birt Hogg Dube Syndrome ( 28846260 )
2017
18
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. ( 28151982 )
2017
19
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
20
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
21
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
22
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. ( 26877139 )
2016
23
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. ( 27643397 )
2016
24
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. ( 27642565 )
2016
25
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
26
WITHDRAWN: A Unique Case of Perivascular Epithelioid Cell Tumor Associated With Birt-Hogg-Dube Syndrome. ( 29079164 )
2016
27
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. ( 25970555 )
2015
28
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. ( 26625667 )
2015
29
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. ( 25059020 )
2014
30
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. ( 24339506 )
2013
31
Birt-Hogg-Dube syndrome is a novel ciliopathy. ( 23784378 )
2013
32
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. ( 23904515 )
2013
33
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. ( 23223565 )
2013
34
Birt-Hogg-Dube syndrome. ( 22906666 )
2012
35
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. ( 23050938 )
2012
36
Thoracic CT findings in Birt-Hogg-Dube syndrome. ( 21257886 )
2011
37
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. ( 21538689 )
2011
38
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. ( 21466061 )
2011
39
Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. ( 21781069 )
2011
40
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. ( 20413710 )
2010
41
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. ( 19785621 )
2010
42
Association between Birt Hogg Dube syndrome and cancer predisposition. ( 20392993 )
2010
43
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. ( 20392792 )
2010
44
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. ( 19659657 )
2009
45
[Sporadic Birt-Hogg-Dube syndrome]. ( 19777910 )
2009
46
Dermoscopic features of Birt-Hogg-Dube syndrome. ( 19841421 )
2009
47
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
48
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. ( 19101904 )
2008
49
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. ( 17903168 )
2007
50
Cystic lung disease in Birt-Hogg-Dube syndrome. ( 17505035 )
2007

Variations for Birt-Hogg-Dube Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 FLCN p.Ser108Ile VAR_066023
2 FLCN p.Lys508Arg VAR_066029 rs199643834

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

6 (show top 50) (show all 847)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
2 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh38 Chromosome 17, 17222501: 17222501
3 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh38 Chromosome 17, 17224094: 17224094
4 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh37 Chromosome 17, 17127408: 17127408
5 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh37 Chromosome 17, 17118285: 17118285
6 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh38 Chromosome 17, 17214971: 17214971
7 FLCN NM_144997.6(FLCN): c.1692C> T (p.His564=) single nucleotide variant Likely benign rs201810397 GRCh37 Chromosome 17, 17117017: 17117017
8 FLCN NM_144997.6(FLCN): c.1692C> T (p.His564=) single nucleotide variant Likely benign rs201810397 GRCh38 Chromosome 17, 17213703: 17213703
9 FLCN NM_144997.6(FLCN): c.1635C> G (p.Asp545Glu) single nucleotide variant Uncertain significance rs760329266 GRCh38 Chromosome 17, 17213760: 17213760
10 FLCN NM_144997.6(FLCN): c.1635C> G (p.Asp545Glu) single nucleotide variant Uncertain significance rs760329266 GRCh37 Chromosome 17, 17117074: 17117074
11 FLCN NM_144997.6(FLCN): c.1283C> A (p.Pro428His) single nucleotide variant Uncertain significance rs199889477 GRCh37 Chromosome 17, 17119711: 17119711
12 FLCN NM_144997.6(FLCN): c.1283C> A (p.Pro428His) single nucleotide variant Uncertain significance rs199889477 GRCh38 Chromosome 17, 17216397: 17216397
13 FLCN NM_144997.6(FLCN): c.1278C> T (p.Ile426=) single nucleotide variant Likely benign rs41459448 GRCh37 Chromosome 17, 17119716: 17119716
14 FLCN NM_144997.6(FLCN): c.1278C> T (p.Ile426=) single nucleotide variant Likely benign rs41459448 GRCh38 Chromosome 17, 17216402: 17216402
15 FLCN NM_144997.5(FLCN): c.1274A> G (p.Gln425Arg) single nucleotide variant Uncertain significance rs786203348 GRCh37 Chromosome 17, 17119720: 17119720
16 FLCN NM_144997.5(FLCN): c.1274A> G (p.Gln425Arg) single nucleotide variant Uncertain significance rs786203348 GRCh38 Chromosome 17, 17216406: 17216406
17 FLCN NM_144997.6(FLCN): c.1059G> A (p.Arg353=) single nucleotide variant Likely benign rs751513488 GRCh37 Chromosome 17, 17122336: 17122336
18 FLCN NM_144997.6(FLCN): c.1059G> A (p.Arg353=) single nucleotide variant Likely benign rs751513488 GRCh38 Chromosome 17, 17219022: 17219022
19 FLCN NM_144997.5(FLCN): c.804G> T (p.Arg268=) single nucleotide variant Likely benign rs771424902 GRCh37 Chromosome 17, 17124918: 17124918
20 FLCN NM_144997.5(FLCN): c.804G> T (p.Arg268=) single nucleotide variant Likely benign rs771424902 GRCh38 Chromosome 17, 17221604: 17221604
21 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
22 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh38 Chromosome 17, 17224069: 17224071
23 FLCN NM_144997.6(FLCN): c.250-1G> A single nucleotide variant Pathogenic rs786202081 GRCh37 Chromosome 17, 17129637: 17129637
24 FLCN NM_144997.6(FLCN): c.250-1G> A single nucleotide variant Pathogenic rs786202081 GRCh38 Chromosome 17, 17226323: 17226323
25 FLCN NM_144997.5(FLCN): c.246C> T (p.Cys82=) single nucleotide variant Likely benign rs150712346 GRCh38 Chromosome 17, 17227892: 17227892
26 FLCN NM_144997.5(FLCN): c.246C> T (p.Cys82=) single nucleotide variant Likely benign rs150712346 GRCh37 Chromosome 17, 17131206: 17131206
27 FLCN NM_144997.5(FLCN): c.139G> C (p.Glu47Gln) single nucleotide variant Uncertain significance rs369115472 GRCh37 Chromosome 17, 17131313: 17131313
28 FLCN NM_144997.5(FLCN): c.139G> C (p.Glu47Gln) single nucleotide variant Uncertain significance rs369115472 GRCh38 Chromosome 17, 17227999: 17227999
29 FLCN NM_144997.5(FLCN): c.135G> A (p.Ala45=) single nucleotide variant Likely benign rs759930161 GRCh37 Chromosome 17, 17131317: 17131317
30 FLCN NM_144997.5(FLCN): c.135G> A (p.Ala45=) single nucleotide variant Likely benign rs759930161 GRCh38 Chromosome 17, 17228003: 17228003
31 FLCN NM_144997.6(FLCN): c.1252delC (p.Leu418Trpfs) deletion Pathogenic rs864622651 GRCh37 Chromosome 17, 17119742: 17119742
32 FLCN NM_144997.6(FLCN): c.1252delC (p.Leu418Trpfs) deletion Pathogenic rs864622651 GRCh38 Chromosome 17, 17216428: 17216428
33 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
34 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
35 FLCN NM_144997.6(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
36 FLCN NM_144997.6(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
37 FLCN NM_144997.6(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
38 FLCN NM_144997.6(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh38 Chromosome 17, 17215228: 17215228
39 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh37 Chromosome 17, 17118598: 17118598
40 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh38 Chromosome 17, 17215284: 17215284
41 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
42 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
43 FLCN NM_144997.5(FLCN): c.1301-7_1304delGTTACAGAGTT deletion no interpretation for the single variant rs878854340 GRCh37 Chromosome 17, 17118627: 17118637
44 FLCN NM_144997.5(FLCN): c.1301-7_1304delGTTACAGAGTT deletion no interpretation for the single variant rs878854340 GRCh38 Chromosome 17, 17215313: 17215323
45 FLCN FLCN, 2-BP DEL/2-BP INS, NT610 indel Pathogenic
46 FLCN NM_144997.6(FLCN): c.1523A> G (p.Lys508Arg) single nucleotide variant Likely benign rs199643834 GRCh37 Chromosome 17, 17118314: 17118314
47 FLCN NM_144997.6(FLCN): c.1523A> G (p.Lys508Arg) single nucleotide variant Likely benign rs199643834 GRCh38 Chromosome 17, 17215000: 17215000
48 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh37 Chromosome 17, 17129618: 17129618
49 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh38 Chromosome 17, 17226304: 17226304
50 FLCN NM_144997.6(FLCN): c.586A> G (p.Ile196Val) single nucleotide variant Uncertain significance rs201078144 GRCh37 Chromosome 17, 17127268: 17127268

Cosmic variations for Birt-Hogg-Dube Syndrome:

9 (show top 50) (show all 826)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6940591 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 0
2 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 0
3 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 0
4 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 0
5 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 0
6 COSM17806 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111S 3:10142180-10142180 0
7 COSM18028 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 3:10142104-10142104 0
8 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 0
9 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 0
10 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
11 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 0
12 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 0
13 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 0
14 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 0
15 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 0
16 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 0
17 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 0
18 COSM7349320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 0
19 COSM7349613 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 0
20 COSM7349594 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 0
21 COSM7349602 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 0
22 COSM7349619 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 0
23 COSM7349321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 0
24 COSM7349621 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 0
25 COSM7349639 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 0
26 COSM7349636 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 0
27 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 0
28 COSM6940589 TSC2 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.3385C>T p.R1129C 16:2079657-2079657 0
29 COSM7349616 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 0
30 COSM1272079 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 0
31 COSM6943738 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 0
32 COSM7349331 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 0
33 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 0
34 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 0
35 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 0
36 COSM7349328 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 0
37 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 0
38 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 0
39 COSM10662 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
40 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 0
41 COSM11071 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1009C>T p.R337C 17:7670700-7670700 0
42 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
43 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
44 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
45 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.742C>T p.R248W 17:7674221-7674221 0
46 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
47 COSM45322 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.757A>G p.T253A 17:7674206-7674206 0
48 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.374C>G p.T125R 17:7675995-7675995 0
49 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 0
50 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 0

Expression for Birt-Hogg-Dube Syndrome

Search GEO for disease gene expression data for Birt-Hogg-Dube Syndrome.

Pathways for Birt-Hogg-Dube Syndrome

Pathways related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.98 CTNNB1 FH PTCH1 PTEN
2
Show member pathways
11.39 FLCN FNIP1 FNIP2 PTEN

GO Terms for Birt-Hogg-Dube Syndrome

Biological processes related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.75 CTNNB1 PTCH1 PTEN
2 positive regulation of apoptotic process GO:0043065 9.72 CTNNB1 FLCN PTEN
3 response to drug GO:0042493 9.71 CTNNB1 PTCH1 PTEN
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.61 FNIP1 FNIP2
5 in utero embryonic development GO:0001701 9.61 CTNNB1 FLCN PTCH1
6 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.6 FLCN PTEN
7 canonical Wnt signaling pathway GO:0060070 9.59 CTNNB1 PTEN
8 hemopoiesis GO:0030097 9.58 CTNNB1 FLCN
9 negative regulation of epithelial cell proliferation GO:0050680 9.57 PTCH1 PTEN
10 negative regulation of protein kinase B signaling GO:0051898 9.56 FLCN PTEN
11 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 CTNNB1 FLCN FNIP1 FNIP2 PTCH1
12 branching involved in ureteric bud morphogenesis GO:0001658 9.52 CTNNB1 PTCH1
13 dorsal/ventral pattern formation GO:0009953 9.51 CTNNB1 PTCH1
14 negative regulation of TOR signaling GO:0032007 9.49 FLCN FNIP1
15 positive regulation of protein complex assembly GO:0031334 9.48 FNIP1 FNIP2
16 renal system development GO:0072001 9.46 CTNNB1 PTCH1
17 response to estradiol GO:0032355 9.43 CTNNB1 PTCH1 PTEN
18 cell fate determination GO:0001709 9.4 CTNNB1 PTCH1
19 TOR signaling GO:0031929 9.37 FLCN FNIP1
20 TORC1 signaling GO:0038202 9.32 FNIP1 FNIP2
21 regulation of protein phosphorylation GO:0001932 9.13 FLCN FNIP1 FNIP2
22 regulation of pro-B cell differentiation GO:2000973 8.62 FLCN FNIP1

Molecular functions related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase inhibitor activity GO:0042030 8.62 FNIP1 FNIP2

Sources for Birt-Hogg-Dube Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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