BHD
MCID: BRT002
MIFTS: 56

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 57 12 76 53 75 37 13 55 44 15 40
Fibrofolliculomas with Trichodiscomas and Acrochordons 57 53 25 59 75
Bhd 57 53 25 75
Hornstein-Knickenberg Syndrome 57 53 25
Birt-Hogg-Dubé Syndrome 24 25 59
Birt-Hogg-Dub Syndrome 29 6
Hornstein-Birt-Hogg-Dubé Syndrome 25
Multiple Fibrofolliculomas 73
Birt Hogg Dube Syndrome 53
Birthoggdub� Syndrome 76
Bhd Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
birt-hogg-dubé syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
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:

32
birt-hogg-dube syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Based on the three major clinical manifestations, penetrance of bhds is considered to be very high...

Classifications:



External Ids:

OMIM 57 135150
Disease Ontology 12 DOID:0050676
MeSH 44 D058249
Orphanet 59 ORPHA122
MESH via Orphanet 45 D058249
UMLS via Orphanet 74 C0346010
MedGen 42 C0346010
KEGG 37 H00818
UMLS 73 C0346010

Summaries for Birt-Hogg-Dube Syndrome

NIH Rare Diseases : 53 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 Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and kidney, and related phenotypes are abnormality of retinal pigmentation and emphysema

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 Birt�??Hogg�??Dubé syndrome (BHD), also Hornstein�??Birt�??Hogg�??Dubé syndrome, Hornstein�??Knickenberg... 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 65)
# Related Disease Score Top Affiliating Genes
1 pneumothorax, primary spontaneous 33.3 FNIP1 FLCN
2 pneumothorax 30.9 FNIP2 FNIP1 FLCN
3 kidney angiomyolipoma 30.8 FNIP1 FLCN
4 beukes hip dysplasia 12.0
5 bobble-head doll syndrome 11.8
6 discoid fibromas, familial multiple 11.6
7 renal oncocytoma 11.6
8 renal cell carcinoma, nonpapillary 10.6
9 chromophobe renal cell carcinoma 10.6
10 papilloma 10.5
11 adenoma 10.5
12 parathyroid adenoma 10.5
13 beckwith-wiedemann syndrome 10.4
14 thyroid carcinoma, familial medullary 10.4
15 tuberous sclerosis 1 10.4
16 pulmonary arteriovenous fistulas 10.4
17 incontinentia pigmenti 10.4
18 oncocytoma 10.4
19 langerhans cell histiocytosis 10.4
20 lymphangioleiomyomatosis 10.4
21 arteriovenous malformation 10.4
22 tuberous sclerosis 10.4
23 melanoma 10.4
24 perivascular epithelioid cell tumor 10.4
25 angiomyolipoma 10.4
26 histiocytosis 10.4
27 lung disease 10.4
28 pulmonary arteriovenous malformation 10.4
29 kidney cancer 10.3
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 PTEN FLCN
31 familial renal oncocytoma 10.1 FLCN FH
32 hereditary renal cell carcinoma 10.1 FLCN FH
33 polycystic liver disease 1 with or without kidney cysts 10.1 PTCH1 FLCN
34 familial renal papillary carcinoma 10.1 FLCN FH
35 female reproductive endometrioid cancer 10.1 PTEN CTNNB1
36 nodular medulloblastoma 10.1 PTCH1 CTNNB1
37 central nervous system cancer 10.1 PTEN PTCH1
38 mismatch repair cancer syndrome 10.1 PTEN CTNNB1
39 nervous system cancer 10.1 PTEN PTCH1
40 peutz-jeghers syndrome 10.1 PTEN CTNNB1
41 brachydactyly, type b1 10.1 PTCH1 CTNNB1
42 infratentorial cancer 10.1 PTCH1 CTNNB1
43 uterine anomalies 10.1 PTEN CTNNB1
44 anaplastic thyroid cancer 10.0 PTEN CTNNB1
45 carcinosarcoma 10.0 PTEN CTNNB1
46 male reproductive organ cancer 10.0 PTEN CTNNB1
47 cell type benign neoplasm 10.0 FH CTNNB1
48 female reproductive system disease 10.0 PTEN CTNNB1
49 reproductive system disease 10.0 PTEN CTNNB1
50 endometrial adenocarcinoma 10.0 PTEN CTNNB1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Birt-Hogg-Dube Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
2 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
3 multiple lipomas 59 32 frequent (33%) Frequent (79-30%) HP:0001012
4 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
5 parathyroid adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002897
6 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
7 pneumothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0002107
8 skin tags 59 32 hallmark (90%) Very frequent (99-80%) HP:0010609
9 medullary thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002865
10 pulmonary sequestration 59 32 frequent (33%) Frequent (79-30%) HP:0100632
11 spontaneous pneumothorax 32 HP:0002108
12 abnormality of the hair 32 HP:0001595
13 renal cyst 32 HP:0000107
14 renal neoplasm 32 HP:0009726
15 abnormality of abdomen morphology 32 HP:0001438
16 fibrofolliculoma 32 HP:0030436

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

46
# 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
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
4 Pharmaceutical Solutions Phase 3
5 Antibiotics, Antitubercular Phase 3,Phase 2
6 Immunosuppressive Agents Phase 3,Phase 2
7 Immunologic Factors Phase 3,Phase 2
8 Antifungal Agents Phase 3,Phase 2
9 Anti-Infective Agents Phase 3,Phase 2
10 Anti-Bacterial Agents Phase 3,Phase 2
11
Lactitol Investigational Phase 2 585-86-4 3871

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 29

Anatomical Context for Birt-Hogg-Dube Syndrome

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

41
Lung, Skin, Kidney, Colon, Thyroid, Brain, Heart

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show top 50) (show all 74)
# Title Authors Year
1
Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome. ( 29930184 )
2018
2
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
3
A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. ( 30083407 )
2018
4
A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis. ( 30325331 )
2018
5
Renal transplantation in Birt-Hogg-Dubé syndrome: should we? ( 30326848 )
2018
6
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up. ( 30360018 )
2018
7
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene. ( 30533232 )
2018
8
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2017
9
Birt Hogg Dube Syndrome ( 28846260 )
2017
10
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. ( 28151982 )
2017
11
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
12
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
13
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
14
Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. ( 27943432 )
2017
15
Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. ( 28248571 )
2017
16
Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations. ( 28539984 )
2017
17
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. ( 26877139 )
2016
18
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. ( 27643397 )
2016
19
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. ( 27642565 )
2016
20
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
21
Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-Dubé syndrome-associated chromophobe renal cell carcinomas. ( 26980015 )
2016
22
Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation. ( 28031834 )
2016
23
WITHDRAWN: A Unique Case of Perivascular Epithelioid Cell Tumor Associated With Birt-Hogg-Dube Syndrome. ( 29079164 )
2016
24
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. ( 25970555 )
2015
25
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. ( 26625667 )
2015
26
Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. ( 25519092 )
2015
27
Prevalence of Birt-Hogg-Dubé syndrome in patients with apparently primary spontaneous pneumothorax. ( 25537564 )
2015
28
Birt-Hogg-Dubé syndrome and intracranial vascular pathologies. ( 25952757 )
2015
29
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. ( 25059020 )
2014
30
An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome. ( 23848572 )
2014
31
A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies. ( 25610687 )
2014
32
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. ( 24339506 )
2013
33
Birt-Hogg-Dube syndrome is a novel ciliopathy. ( 23784378 )
2013
34
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. ( 23904515 )
2013
35
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. ( 23223565 )
2013
36
Birt-Hogg-Dube syndrome. ( 22906666 )
2012
37
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. ( 23050938 )
2012
38
White papules on the face, neck and upper chest. Birt-Hogg-Dubé syndrome. ( 22672312 )
2012
39
Familial facial papules. Birt-Hogg-Dubé syndrome. ( 23067074 )
2012
40
Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. ( 23295609 )
2012
41
Thoracic CT findings in Birt-Hogg-Dube syndrome. ( 21257886 )
2011
42
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. ( 21538689 )
2011
43
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. ( 21466061 )
2011
44
Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. ( 21781069 )
2011
45
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. ( 20413710 )
2010
46
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. ( 19785621 )
2010
47
Association between Birt Hogg Dube syndrome and cancer predisposition. ( 20392993 )
2010
48
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. ( 20392792 )
2010
49
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. ( 19659657 )
2009
50
[Sporadic Birt-Hogg-Dube syndrome]. ( 19777910 )
2009

Variations for Birt-Hogg-Dube Syndrome

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

75
# 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_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
3 FLCN NM_144997.6(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338683 GRCh37 Chromosome 17, 17119709: 17119709
4 FLCN NM_144997.6(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338683 GRCh38 Chromosome 17, 17216395: 17216395
5 FLCN NM_144997.6(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
6 FLCN NM_144997.6(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh38 Chromosome 17, 17215228: 17215228
7 FLCN NM_144997.6(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh37 Chromosome 17, 17118598: 17118598
8 FLCN NM_144997.6(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_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh37 Chromosome 17, 17122327: 17122327
28 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh38 Chromosome 17, 17219013: 17219013
29 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh37 Chromosome 17, 17120442: 17120442
30 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh38 Chromosome 17, 17217128: 17217128
31 FLCN NM_144997.6(FLCN): c.1149C> T (p.Leu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs150752548 GRCh37 Chromosome 17, 17120410: 17120410
32 FLCN NM_144997.6(FLCN): c.1149C> T (p.Leu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs150752548 GRCh38 Chromosome 17, 17217096: 17217096
33 FLCN NM_144997.5(FLCN): c.1179delC (p.Met394Cysfs) deletion Pathogenic rs398124525 GRCh37 Chromosome 17, 17119815: 17119815
34 FLCN NM_144997.5(FLCN): c.1179delC (p.Met394Cysfs) deletion Pathogenic rs398124525 GRCh38 Chromosome 17, 17216501: 17216501
35 FLCN NM_144997.5(FLCN): c.1198G> T (p.Val400Phe) single nucleotide variant Uncertain significance rs148257120 GRCh37 Chromosome 17, 17119796: 17119796
36 FLCN NM_144997.5(FLCN): c.1198G> T (p.Val400Phe) single nucleotide variant Uncertain significance rs148257120 GRCh38 Chromosome 17, 17216482: 17216482
37 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh37 Chromosome 17, 17119761: 17119761
38 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh38 Chromosome 17, 17216447: 17216447
39 FLCN NM_144997.5(FLCN): c.1305delT (p.Phe435Leufs) deletion Pathogenic rs398124527 GRCh37 Chromosome 17, 17118626: 17118626
40 FLCN NM_144997.5(FLCN): c.1305delT (p.Phe435Leufs) deletion Pathogenic rs398124527 GRCh38 Chromosome 17, 17215312: 17215312
41 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh37 Chromosome 17, 17118313: 17118315
42 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh38 Chromosome 17, 17214999: 17215001
43 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh37 Chromosome 17, 17118304: 17118304
44 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh38 Chromosome 17, 17214990: 17214990
45 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh37 Chromosome 17, 17129638: 17129638
46 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh38 Chromosome 17, 17226324: 17226324
47 FLCN NM_144997.6(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh37 Chromosome 17, 17129590: 17129590
48 FLCN NM_144997.6(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 808)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 6
2 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 6
3 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 6
4 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 6
5 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 6
6 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 6
7 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 6
8 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 6
9 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 6
10 COSM44552 TP53 skin,face,carcinoma,NS c.509C>T p.T170M 17:7675103-7675103 6
11 COSM45830 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 6
12 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 6
13 COSM10992 TP53 skin,face,carcinoma,NS c.844C>G p.R282G 17:7673776-7673776 6
14 COSM45304 TP53 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 6
15 COSM43588 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 6
16 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 6
17 COSM11081 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 6
18 COSM11073 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 6
19 COSM45733 TP53 skin,face,carcinoma,NS c.432G>A p.Q144Q 17:7675180-7675180 6
20 COSM43700 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 6
21 COSM10733 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 6
22 COSM44227 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 6
23 COSM10768 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 6
24 COSM43651 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 6
25 COSM43920 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 6
26 COSM44436 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 17:7675992-7675992 6
27 COSM43596 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 6
28 COSM10749 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 17:7673790-7673790 6
29 COSM11084 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 17:7675095-7675095 6
30 COSM43742 TP53 skin,face,carcinoma,NS c.419C>T p.T140I 17:7675193-7675193 6
31 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 6
32 COSM44241 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 17:7674939-7674939 6
33 COSM43665 TP53 skin,face,carcinoma,NS c.746G>C p.R249T 17:7674217-7674217 6
34 COSM10728 TP53 skin,face,carcinoma,NS c.839G>A p.R280K 17:7673781-7673781 6
35 COSM10988 TP53 skin,face,carcinoma,NS c.772G>A p.E258K 17:7674191-7674191 6
36 COSM45677 TP53 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 6
37 COSM13233 SUFU skin,face,carcinoma,NS c.591C>T p.F197F 10:102592718-102592718 6
38 COSM13234 SUFU skin,face,carcinoma,NS c.560C>T p.P187L 10:102592687-102592687 6
39 COSM3942016 SMO skin,face,carcinoma,NS c.1376C>T p.A459V 7:129209307-129209307 6
40 COSM13146 SMO skin,face,carcinoma,NS c.1604G>T p.W535L 7:129210500-129210500 6
41 COSM13144 SMO skin,face,carcinoma,NS c.1598G>A p.S533N 7:129210494-129210494 6
42 COSM13145 SMO skin,face,carcinoma,NS c.595C>T p.R199W 7:129205260-129205260 6
43 COSM216037 SMO skin,face,carcinoma,NS c.1234C>T p.L412F 7:129206557-129206557 6
44 COSM13240 SMO skin,face,carcinoma,NS c.1955C>T p.A652V 7:129212042-129212042 6
45 COSM1731707 RB1 skin,face,carcinoma,NS c.1789C>T p.Q597* 13:48453086-48453086 6
46 COSM17598 PTCH1 skin,face,carcinoma,NS c.550C>T p.Q184* 9:95485719-95485719 6
47 COSM29147 PTCH1 skin,face,carcinoma,NS c.1356T>G p.Y452* 9:95477694-95477694 6
48 COSM17511 PTCH1 skin,face,carcinoma,NS c.3583A>T p.T1195S 9:95449290-95449290 6
49 COSM17522 PTCH1 skin,face,carcinoma,NS c.3586C>T p.P1196S 9:95449287-95449287 6
50 COSM17495 PTCH1 skin,face,carcinoma,NS c.1229G>A p.S410N 9:95478173-95478173 6

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
3 11.11 CTNNB1 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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