BHD
MCID: BRT002
MIFTS: 57

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 30
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:



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 kidney angiomyolipoma. 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 Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, skin 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 80)
# Related Disease Score Top Affiliating Genes
1 pneumothorax, primary spontaneous 33.4 FLCN FNIP1
2 kidney angiomyolipoma 30.8 FLCN FNIP1
3 pneumothorax 30.6 FLCN FNIP1 FNIP2
4 thyroid cancer 30.3 CTNNB1 PTCH1 PTEN
5 beukes hip dysplasia 12.1
6 bobble-head doll syndrome 11.9
7 discoid fibromas, familial multiple 11.7
8 renal oncocytoma 11.7
9 renal cell carcinoma, nonpapillary 10.6
10 chromophobe renal cell carcinoma 10.6
11 beckwith-wiedemann syndrome 10.5
12 thyroid carcinoma, familial medullary 10.5
13 tuberous sclerosis 1 10.5
14 cystic disease of lung 10.5
15 pulmonary arteriovenous fistulas 10.5
16 incontinentia pigmenti 10.5
17 oncocytoma 10.5
18 langerhans cell histiocytosis 10.5
19 lymphangioleiomyomatosis 10.5
20 autosomal dominant disease 10.5
21 arteriovenous malformation 10.5
22 acoustic neuroma 10.5
23 tuberous sclerosis 10.5
24 melanoma 10.5
25 perivascular epithelioid cell tumor 10.5
26 neurilemmoma 10.5
27 angiomyolipoma 10.5
28 histiocytosis 10.5
29 lung disease 10.5
30 pulmonary arteriovenous malformation 10.5
31 cerebral cavernous malformations 10.4
32 lung cancer 10.4
33 nevus comedonicus 10.4
34 familial adenomatous polyposis 10.4
35 fibroma 10.4
36 goiter 10.4
37 neuroendocrine carcinoma 10.4
38 papilloma 10.4
39 neurilemmomatosis 10.4
40 ischemia 10.4
41 histiocytoma 10.4
42 clear cell renal cell carcinoma 10.4
43 pneumonia 10.4
44 adenoma 10.4
45 parathyroid adenoma 10.4
46 skin melanoma 10.4
47 kidney cancer 10.4
48 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2 FLCN PTEN
49 colorectal cancer 10.2
50 familial renal oncocytoma 10.2 FH FLCN

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 20)
# 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 very rare (1%) 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 spontaneous pneumothorax 33 very rare (1%) HP:0002108
12 colon cancer 33 very rare (1%) HP:0003003
13 cutaneous leiomyoma 33 very rare (1%) HP:0007620
14 cutaneous leiomyosarcoma 33 very rare (1%) HP:0006755
15 fibrofolliculoma 33 very rare (1%) HP:0030436
16 sebaceous hyperplasia 33 very rare (1%) HP:0032227
17 trichodiscoma 33 very rare (1%) HP:0032228
18 large intestinal polyposis 33 HP:0030255
19 renal cyst 33 HP:0000107
20 renal neoplasm 33 HP:0009726

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
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 5284616 6436030
2
Everolimus Approved Phase 3,Phase 2 159351-69-6 70789204 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
4 Immunologic Factors Phase 3,Phase 2
5 Anti-Bacterial Agents Phase 3,Phase 2
6 Pharmaceutical Solutions Phase 3
7 Anti-Infective Agents Phase 3,Phase 2
8 Antibiotics, Antitubercular Phase 3,Phase 2
9 Immunosuppressive Agents Phase 3,Phase 2
10 Antifungal Agents Phase 3,Phase 2
11
Lactitol Investigational Phase 2 585-88-6, 585-86-4 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
2 Birt-Hogg-Dubé Syndrome 30

Anatomical Context for Birt-Hogg-Dube Syndrome

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

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

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show top 50) (show all 290)
# Title Authors Year
1
Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex. ( 31008171 )
2019
2
Isolated Cystic Lung Disease: An Algorithmic Approach to Distinguishing Birt-Hogg-Dubé Syndrome, Lymphangioleiomyomatosis, and Lymphocytic Interstitial Pneumonia. ( 30888864 )
2019
3
Birt-Hogg-Dubé syndrome in the elderly. ( 30873309 )
2019
4
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome. ( 30845233 )
2019
5
Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome. ( 30696655 )
2019
6
Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images. ( 30673341 )
2019
7
Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome. ( 30640787 )
2019
8
Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review. ( 30632664 )
2019
9
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2019
10
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome. ( 30586397 )
2018
11
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene. ( 30533232 )
2018
12
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up. ( 30360018 )
2018
13
Renal transplantation in Birt-Hogg-Dubé syndrome: should we? ( 30326848 )
2018
14
A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis. ( 30325331 )
2018
15
A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. ( 30083407 )
2018
16
Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome. ( 29971177 )
2018
17
Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome. ( 29930184 )
2018
18
A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome. ( 29764481 )
2018
19
Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dubé Syndrome: Evidence for a Real Association. ( 29744825 )
2018
20
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. ( 29720200 )
2018
21
Renal Manifestation of Birt-Hogg-Dubé Syndrome Depicted by 18F-fludeoxyglucose Positron Emission Tomography/Computed Tomography in a Patient with Hurtle Cell Thyroid Malignancy. ( 29719489 )
2018
22
Familial Birt-Hogg-Dubé Syndrome. ( 29669049 )
2018
23
Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report. ( 29548312 )
2018
24
Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome. ( 29537177 )
2018
25
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature. ( 29439288 )
2018
26
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
27
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene. ( 29357828 )
2018
28
Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom. ( 29321196 )
2018
29
Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report. ( 29223882 )
2018
30
Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts. ( 29157599 )
2018
31
FLCN: The causative gene for Birt-Hogg-Dubé syndrome. ( 28970150 )
2018
32
Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt-Hogg-Dubé syndrome. ( 28960698 )
2018
33
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? ( 28869776 )
2018
34
Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms. ( 28695430 )
2018
35
Mutations induce conformational changes in folliculin C-terminal domain: possible cause of loss of guanine exchange factor activity and Birt-Hogg-Dubé syndrome. ( 27484154 )
2017
36
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
37
Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. ( 27943432 )
2017
38
Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome. ( 27991910 )
2017
39
Partial pleural covering for intractable pneumothorax in patients with Birt-Hogg-Dubé Syndrome. ( 26073198 )
2017
40
Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome. ( 29220357 )
2017
41
Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene. ( 29124032 )
2017
42
Birt-Hogg-Dubé Syndrome: Another Battle for a Retired Navy Seal. ( 29087933 )
2017
43
Birt-Hogg-Dubé syndrome: awareness is important! ( 29066638 )
2017
44
The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome. ( 28981362 )
2017
45
A novel heterozygous mutation in the Birt-Hogg-Dubé Syndrome. ( 28891800 )
2017
46
Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases. ( 28830849 )
2017
47
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
48
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
49
Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax. ( 28775225 )
2017
50
A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering. ( 28690286 )
2017

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_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
3 FLCN NM_144997.5(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
4 FLCN NM_144997.5(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
5 FLCN NM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
6 FLCN NM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh38 Chromosome 17, 17215228: 17215228
7 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh37 Chromosome 17, 17118598: 17118598
8 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh38 Chromosome 17, 17215284: 17215284
9 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
10 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
11 FLCN NM_144997.5(FLCN): c.1301-7_1304delGTTACAGAGTT deletion no interpretation for the single variant rs878854340 GRCh37 Chromosome 17, 17118627: 17118637
12 FLCN NM_144997.5(FLCN): c.1301-7_1304delGTTACAGAGTT deletion no interpretation for the single variant rs878854340 GRCh38 Chromosome 17, 17215313: 17215323
13 FLCN FLCN, 2-BP DEL/2-BP INS, NT610 indel Pathogenic
14 FLCN NM_144997.6(FLCN): c.1523A> G (p.Lys508Arg) single nucleotide variant Likely benign rs199643834 GRCh37 Chromosome 17, 17118314: 17118314
15 FLCN NM_144997.6(FLCN): c.1523A> G (p.Lys508Arg) single nucleotide variant Likely benign rs199643834 GRCh38 Chromosome 17, 17215000: 17215000
16 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh37 Chromosome 17, 17129618: 17129618
17 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh38 Chromosome 17, 17226304: 17226304
18 FLCN NM_144997.6(FLCN): c.586A> G (p.Ile196Val) single nucleotide variant Uncertain significance rs201078144 GRCh37 Chromosome 17, 17127268: 17127268
19 FLCN NM_144997.6(FLCN): c.586A> G (p.Ile196Val) single nucleotide variant Uncertain significance rs201078144 GRCh38 Chromosome 17, 17223954: 17223954
20 FLCN NM_144997.5(FLCN): c.871+47G> A single nucleotide variant Likely benign rs142934950 GRCh37 Chromosome 17, 17124804: 17124804
21 FLCN NM_144997.5(FLCN): c.871+47G> A single nucleotide variant Likely benign rs142934950 GRCh38 Chromosome 17, 17221490: 17221490
22 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh37 Chromosome 17, 17122436: 17122436
23 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh38 Chromosome 17, 17219122: 17219122
24 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh37 Chromosome 17, 17118599: 17118599
25 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh38 Chromosome 17, 17215285: 17215285
26 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 NCBI36 Chromosome 17, 17059324: 17059324
27 FLCN NM_144997.5(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh37 Chromosome 17, 17129638: 17129638
28 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh37 Chromosome 17, 17122327: 17122327
29 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh38 Chromosome 17, 17219013: 17219013
30 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh37 Chromosome 17, 17120442: 17120442
31 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh38 Chromosome 17, 17217128: 17217128
32 FLCN NM_144997.6(FLCN): c.1149C> T (p.Leu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs150752548 GRCh37 Chromosome 17, 17120410: 17120410
33 FLCN NM_144997.6(FLCN): c.1149C> T (p.Leu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs150752548 GRCh38 Chromosome 17, 17217096: 17217096
34 FLCN NM_144997.5(FLCN): c.1179delC (p.Met394Cysfs) deletion Pathogenic rs398124525 GRCh37 Chromosome 17, 17119815: 17119815
35 FLCN NM_144997.5(FLCN): c.1179delC (p.Met394Cysfs) deletion Pathogenic rs398124525 GRCh38 Chromosome 17, 17216501: 17216501
36 FLCN NM_144997.5(FLCN): c.1198G> T (p.Val400Phe) single nucleotide variant Uncertain significance rs148257120 GRCh37 Chromosome 17, 17119796: 17119796
37 FLCN NM_144997.5(FLCN): c.1198G> T (p.Val400Phe) single nucleotide variant Uncertain significance rs148257120 GRCh38 Chromosome 17, 17216482: 17216482
38 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh37 Chromosome 17, 17119761: 17119761
39 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh38 Chromosome 17, 17216447: 17216447
40 FLCN NM_144997.5(FLCN): c.1305delT (p.Phe435Leufs) deletion Pathogenic rs398124527 GRCh37 Chromosome 17, 17118626: 17118626
41 FLCN NM_144997.5(FLCN): c.1305delT (p.Phe435Leufs) deletion Pathogenic rs398124527 GRCh38 Chromosome 17, 17215312: 17215312
42 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh37 Chromosome 17, 17118313: 17118315
43 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh38 Chromosome 17, 17214999: 17215001
44 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh37 Chromosome 17, 17118304: 17118304
45 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh38 Chromosome 17, 17214990: 17214990
46 FLCN NM_144997.5(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh38 Chromosome 17, 17226324: 17226324
47 FLCN NM_144997.5(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh37 Chromosome 17, 17129590: 17129590
48 FLCN NM_144997.5(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh38 Chromosome 17, 17226276: 17226276
49 FLCN NM_144997.6(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh37 Chromosome 17, 17129566: 17129567
50 FLCN NM_144997.6(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh38 Chromosome 17, 17226252: 17226253

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 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
10 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 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 COSM7349328 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 0
33 COSM7349331 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 0
34 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 0
35 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 0
36 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 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 COSM10812 TP53 skin,trunk,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
40 COSM11450 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.644G>T p.S215I 17:7674887-7674887 0
41 COSM10660 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
42 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
43 COSM10863 TP53 skin,chest,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 0
44 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
45 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
46 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.742C>T p.R248W 17:7674221-7674221 0
47 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
48 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
49 COSM10662 TP53 skin,face,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
50 COSM45322 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.757A>G p.T253A 17:7674206-7674206 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 response to estradiol GO:0032355 9.43 CTNNB1 PTCH1 PTEN
17 cell fate determination GO:0001709 9.4 CTNNB1 PTCH1
18 TOR signaling GO:0031929 9.37 FLCN FNIP1
19 TORC1 signaling GO:0038202 9.32 FNIP1 FNIP2
20 renal system development GO:0072001 9.16 PTCH1
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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