MCID: BRT002
MIFTS: 50

Birt-Hogg-Dube Syndrome

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

Aliases & Classifications for Birt-Hogg-Dube Syndrome

MalaCards integrated aliases for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 54 12 50 24 71 13 52 42 14 72 23 25 56
Fibrofolliculomas with Trichodiscomas and Acrochordons 50 25 56 71
Bhd 50 24 25 71
Hornstein-Knickenberg Syndrome 50 25
Hornstein-Birt-Hogg-Dubé Syndrome 25
Multiple Fibrofolliculomas 69
Birt Hogg Dube Syndrome 50
Birt-Hogg-Dub Syndrome 29
Bhd Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
birt-hogg-dubé syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

54
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:

23
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 : 50 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. last updated: 7/1/2015

MalaCards based summary : Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to pneumothorax, primary spontaneous and bobble-head doll syndrome, and has symptoms including medullary thyroid carcinoma, emphysema and skin tags. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways/superpathways are Development HGF signaling pathway and Pathways in cancer. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

OMIM : 54
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 : 71 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 : 72 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 51)
id Related Disease Score Top Affiliating Genes
1 pneumothorax, primary spontaneous 28.5 CTNNB1 FH FLCN FNIP1 PTCH1 PTEN
2 bobble-head doll syndrome 11.6
3 renal oncocytoma 11.4
4 hip dysplasia, beukes type 11.3
5 pneumothorax 10.5
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4 FLCN PTEN
7 breast myoepithelial neoplasm 10.4 CTNNB1 PTEN
8 renal cell carcinoma 10.3
9 chromophobe renal cell carcinoma 10.3
10 split-hand/foot malformation 4 10.3 CTNNB1 PTEN
11 rectum kaposi's sarcoma 10.3 CTNNB1 PTEN
12 thyroid dyshormonogenesis 1 10.2 FLCN PTCH1
13 mismatch repair cancer syndrome 10.2 CTNNB1 PTEN
14 functional colonic disease 10.2 CTNNB1 PTCH1
15 bleeding disorder, platelet-type, 13 10.2 CTNNB1 PTEN
16 tuberous sclerosis 10.2
17 melanoma 10.2
18 angiomyolipoma 10.2
19 histiocytosis 10.2
20 angiolipoma 10.2
21 adenoma 10.2
22 beckwith-wiedemann syndrome 10.2
23 thyroiditis 10.2
24 lymphangioleiomyomatosis 10.2
25 parathyroid adenoma 10.2
26 peritonitis 10.2
27 incontinentia pigmenti 10.2
28 lung disease 10.2
29 pulmonary arteriovenous malformation 10.2
30 ciliopathy 10.2
31 arteriovenous malformation 10.2
32 arthus reaction 10.2 FLCN FNIP1
33 endometriosis of uterus 10.1 CTNNB1 PTEN
34 skin hemangioma 10.1 CTNNB1 PTCH1
35 trachea squamous cell carcinoma 10.1 CTNNB1 PTEN
36 small cell neuroendocrine carcinoma 10.1 CTNNB1 PTCH1
37 macrocytic anemia 10.1 CTNNB1 FLCN
38 malignant growth hormone secreting neoplasm of pituitary 10.0 FH FLCN
39 collecting duct carcinoma 10.0 FH FLCN
40 brown-vialetto-van laere syndrome 10.0 CTNNB1 PTEN
41 ovarian carcinosarcoma 10.0 FH FLCN
42 acidophil adenoma 9.9 FH FLCN
43 lymphoplasmacytic lymphoma 9.9 FLCN PTCH1 PTEN
44 chorea, hereditary benign 9.9 PTCH1 PTEN
45 bardet-biedl syndrome 9.9 CTNNB1 PTEN
46 nodular goiter 9.8 CTNNB1 PTCH1 PTEN
47 cleft lip palate dysmorphism kumar type 9.8 FLCN FNIP1 PTEN
48 orchitis 9.8 CTNNB1 PTCH1 PTEN
49 male reproductive organ benign neoplasm 9.8 CTNNB1 FH
50 gallbladder cancer 9.7 CTNNB1 PTEN

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:

54

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

Abdomen- Gastroin testinal:
colorectal adenomas
colonic polyps

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

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

Neoplasia:
lipomas
renal carcinoma
parotid oncocytomas
neural tissue tumors
angiolipomas

Head And Neck- Face:
facial papules

Skin Nails & Hair- Skin:
fibrofolliculomas
acrochordons (skin tag)


Clinical features from OMIM:

135150

Human phenotypes related to Birt-Hogg-Dube Syndrome:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 medullary thyroid carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002865
2 emphysema 56 32 hallmark (90%) Very frequent (99-80%) HP:0002097
3 skin tags 56 32 hallmark (90%) Very frequent (99-80%) HP:0010609
4 parathyroid adenoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002897
5 pneumothorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0002107
6 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
7 multiple lipomas 56 32 frequent (33%) Frequent (79-30%) HP:0001012
8 renal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0005584
9 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
10 pulmonary sequestration 56 32 frequent (33%) Frequent (79-30%) HP:0100632
11 spontaneous pneumothorax 32 HP:0002108
12 renal cyst 32 HP:0000107
13 abnormality of the hair 32 HP:0001595
14 abnormality of abdomen morphology 32 HP:0001438
15 fibrofolliculoma 32 HP:0030436

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 FH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 RRAGC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 FLCN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.64 FH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.64 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.64 FLCN RRAGC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 FLCN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 FH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.64 RRAGC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 FLCN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.64 FH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.64 RRAGC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 FH
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 RRAGC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.64 FLCN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.64 FLCN RRAGC FH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 FLCN RRAGC

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 CTNNB1 FH FLCN FNIP1 PTCH1 PTEN
2 neoplasm MP:0002006 9.35 CTNNB1 FLCN FNIP1 PTCH1 PTEN
3 renal/urinary system MP:0005367 9.1 CTNNB1 FH FLCN FNIP1 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 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 3,Phase 2
5 Antibiotics, Antitubercular Phase 3,Phase 2
6 Antifungal Agents Phase 3,Phase 2
7 Anti-Infective Agents Phase 3,Phase 2
8 Immunosuppressive Agents Phase 3,Phase 2
9 Pharmaceutical Solutions Phase 3
10
Lactitol Investigational Phase 2 585-86-4 3871

Interventional clinical trials:


id 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 Recruiting NCT02504892 Phase 2 Everolimus
3 Prevalence of Spontaneous Pneumothorax in BHD Recruiting NCT02916992 Phase 1
4 Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome Recruiting NCT03040115
5 Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer Recruiting NCT00033137

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:

id Genetic test Affiliating Genes
1 Birt-Hogg-Dub Syndrome 29
2 Birt-Hogg-Dube Syndrome 24 FLCN

Anatomical Context for Birt-Hogg-Dube Syndrome

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

39
Kidney, Lung, Skin, Thyroid, Colon

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show all 46)
id Title Authors Year
1
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2017
2
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. ( 28151982 )
2017
3
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
4
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
5
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
6
Birt Hogg Dube Syndrome ( 28846260 )
2017
7
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. ( 27642565 )
2016
8
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. ( 27643397 )
2016
9
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. ( 26877139 )
2016
10
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
11
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. ( 26625667 )
2015
12
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. ( 25970555 )
2015
13
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. ( 25059020 )
2014
14
Birt-Hogg-Dube syndrome is a novel ciliopathy. ( 23784378 )
2013
15
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. ( 23223565 )
2013
16
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. ( 24339506 )
2013
17
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. ( 23904515 )
2013
18
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. ( 23050938 )
2012
19
Birt-Hogg-Dube syndrome. ( 22906666 )
2012
20
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. ( 21466061 )
2011
21
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. ( 21538689 )
2011
22
Thoracic CT findings in Birt-Hogg-Dube syndrome. ( 21257886 )
2011
23
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. ( 20392792 )
2010
24
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. ( 19785621 )
2010
25
Association between Birt Hogg Dube syndrome and cancer predisposition. ( 20392993 )
2010
26
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. ( 20413710 )
2010
27
Dermoscopic features of Birt-Hogg-Dube syndrome. ( 19841421 )
2009
28
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. ( 19659657 )
2009
29
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. ( 19101904 )
2008
30
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
31
Cystic lung disease in Birt-Hogg-Dube syndrome. ( 17505035 )
2007
32
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. ( 17903168 )
2007
33
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. ( 16928562 )
2006
34
[Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. ( 15746620 )
2005
35
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. ( 15852235 )
2005
36
Birt-Hogg-Dube syndrome. ( 15748585 )
2004
37
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12771781 )
2003
38
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12352424 )
2002
39
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. ( 12358810 )
2002
40
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. ( 11836379 )
2002
41
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg- Dube syndrome. ( 12204536 )
2002
42
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. ( 11176677 )
2001
43
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. ( 11737429 )
2001
44
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. ( 9452372 )
1997
45
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. ( 8734663 )
1996
46
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. ( 7712645 )
1995

Variations for Birt-Hogg-Dube Syndrome

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

71
id 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 64)
id 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_144997.5(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338683 GRCh37 Chromosome 17, 17119709: 17119709
3 FLCN NM_144997.5(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
4 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
5 FLCN FLCN, 2-BP DEL/2-BP INS, NT610 indel Pathogenic
6 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh37 Chromosome 17, 17118313: 17118315
7 FLCN NM_144997.5(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh37 Chromosome 17, 17118304: 17118304
8 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh37 Chromosome 17, 17129638: 17129638
9 FLCN NM_144997.5(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh37 Chromosome 17, 17129590: 17129590
10 FLCN NM_144997.5(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh37 Chromosome 17, 17129566: 17129567
11 FLCN NM_144997.5(FLCN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs398124536 GRCh37 Chromosome 17, 17129540: 17129540
12 FLCN NM_144997.5(FLCN): c.610_611delGCinsTA (p.Ala204Ter) indel Pathogenic rs398124538 GRCh37 Chromosome 17, 17127243: 17127244
13 FLCN NM_144997.5(FLCN): c.890_893delAAAG (p.Glu297Alafs) deletion Pathogenic rs398124541 GRCh37 Chromosome 17, 17122502: 17122505
14 FLCN NM_144997.6(FLCN): c.927_954dup (p.Gly319Serfs) duplication Pathogenic rs398124542 GRCh37 Chromosome 17, 17122441: 17122468
15 FLCN NM_144997.5(FLCN): c.499C> T (p.Gln167Ter) single nucleotide variant Pathogenic rs587782069 GRCh37 Chromosome 17, 17127355: 17127355
16 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh37 Chromosome 17, 17127408: 17127408
17 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
18 FLCN NM_144997.6(FLCN): c.250-1G> A single nucleotide variant Pathogenic rs786202081 GRCh37 Chromosome 17, 17129637: 17129637
19 FLCN NM_144997.5(FLCN): c.1252delC (p.Leu418Trpfs) deletion Pathogenic rs864622651 GRCh37 Chromosome 17, 17119742: 17119742
20 FLCN NM_144997.5(FLCN): c.553T> C (p.Ser185Pro) single nucleotide variant Likely pathogenic rs876657646 GRCh37 Chromosome 17, 17127301: 17127301
21 FLCN NM_144997.5(FLCN): c.779+1G> T single nucleotide variant Pathogenic rs758175953 GRCh37 Chromosome 17, 17125814: 17125814
22 FLCN NM_144997.5(FLCN): c.557G> A (p.Trp186Ter) single nucleotide variant Pathogenic rs876658409 GRCh37 Chromosome 17, 17127297: 17127297
23 FLCN NM_144997.5(FLCN): c.59delT (p.Phe20Serfs) deletion Pathogenic rs876658390 GRCh37 Chromosome 17, 17131393: 17131393
24 FLCN NM_144997.5(FLCN): c.1539-2A> G single nucleotide variant Likely pathogenic rs878855214 GRCh38 Chromosome 17, 17213858: 17213858
25 FLCN NM_144997.5(FLCN): c.1219delA (p.Ser407Alafs) deletion Pathogenic rs878855213 GRCh37 Chromosome 17, 17119775: 17119775
26 FLCN NM_144997.5(FLCN): c.987delC (p.Ser330Profs) deletion Pathogenic rs878855221 GRCh38 Chromosome 17, 17219094: 17219094
27 FLCN NM_144997.5(FLCN): c.828delTinsAGA (p.Ala277Glufs) indel Pathogenic rs878855220 GRCh37 Chromosome 17, 17124894: 17124894
28 FLCN NM_144997.5(FLCN): c.780-1G> C single nucleotide variant Likely pathogenic rs878855218 GRCh37 Chromosome 17, 17124943: 17124943
29 FLCN NM_144997.5(FLCN): c.584delG (p.Gly195Glufs) deletion Pathogenic rs878855217 GRCh38 Chromosome 17, 17223956: 17223956
30 FLCN NM_144997.6(FLCN): c.347dup (p.Leu117Alafs) duplication Pathogenic rs776896550 GRCh38 Chromosome 17, 17226225: 17226225
31 FLCN NM_144997.5(FLCN): c.113delG (p.Ser38Ilefs) deletion Pathogenic rs878855212 GRCh38 Chromosome 17, 17228025: 17228025
32 FLCN NM_144997.5(FLCN): c.1579_1580insA (p.Arg527Glnfs) insertion Pathogenic rs753009073 GRCh37 Chromosome 17, 17117129: 17117130
33 FLCN NM_144997.5(FLCN): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic/Likely pathogenic rs879255683 GRCh37 Chromosome 17, 17117130: 17117130
34 FLCN NM_144997.5(FLCN): c.1532G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs879255682 GRCh37 Chromosome 17, 17118305: 17118305
35 FLCN NM_144997.5(FLCN): c.1528_1530delGAG (p.Glu510del) deletion Pathogenic/Likely pathogenic rs879255681 GRCh37 Chromosome 17, 17118307: 17118309
36 FLCN NM_144997.5(FLCN): c.1528delG (p.Glu510Serfs) deletion Pathogenic rs879255680 GRCh38 Chromosome 17, 17214995: 17214995
37 FLCN NM_144997.6(FLCN): c.1487_1490dup (p.Asp498Cysfs) duplication Pathogenic rs879255679 GRCh38 Chromosome 17, 17215033: 17215036
38 FLCN NM_144997.5(FLCN): c.1432+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs755959303 GRCh37 Chromosome 17, 17118498: 17118498
39 FLCN NM_144997.5(FLCN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs879255678 GRCh38 Chromosome 17, 17215188: 17215188
40 FLCN NM_144997.5(FLCN): c.1389C> A (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
41 FLCN NM_144997.6(FLCN): c.1318_1334dup (p.Leu449Glnfs) duplication Pathogenic rs879255677 GRCh38 Chromosome 17, 17215283: 17215299
42 FLCN NM_144997.5(FLCN): c.1300+1G> A single nucleotide variant Pathogenic rs879255676 GRCh37 Chromosome 17, 17119693: 17119693
43 FLCN NM_144997.6(FLCN): c.1286dup (p.His429Glnfs) duplication Pathogenic rs879255675 GRCh38 Chromosome 17, 17216394: 17216394
44 FLCN NM_144997.5(FLCN): c.1124_1139del16 (p.Ile375Thrfs) deletion Pathogenic rs879255673 GRCh37 Chromosome 17, 17120420: 17120435
45 FLCN NM_144997.5(FLCN): c.1098G> A (p.Trp366Ter) single nucleotide variant Pathogenic rs879255672 GRCh37 Chromosome 17, 17120461: 17120461
46 FLCN NM_144997.5(FLCN): c.1036_1043delTTCAAGTC (p.Phe346Profs) deletion Pathogenic rs879255670 GRCh38 Chromosome 17, 17219038: 17219045
47 FLCN NM_144997.6(FLCN): c.927dup (p.Ala310Serfs) duplication Pathogenic rs879255669 GRCh37 Chromosome 17, 17122468: 17122468
48 FLCN NM_144997.5(FLCN): c.875T> G (p.Leu292Ter) single nucleotide variant Pathogenic rs879255668 GRCh38 Chromosome 17, 17219206: 17219206
49 FLCN NM_144997.5(FLCN): c.853C> T (p.Gln285Ter) single nucleotide variant Pathogenic rs879255667 GRCh37 Chromosome 17, 17124869: 17124869
50 FLCN NM_144997.5(FLCN): c.851delT (p.Val284Alafs) deletion Pathogenic rs879255666 GRCh37 Chromosome 17, 17124871: 17124871

Expression for Birt-Hogg-Dube Syndrome

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

Pathways for Birt-Hogg-Dube Syndrome

GO Terms for Birt-Hogg-Dube Syndrome

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.77 CTNNB1 PTCH1 PTEN
2 positive regulation of apoptotic process GO:0043065 9.73 CTNNB1 FLCN PTEN
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.73 CTNNB1 FLCN FNIP1 PTCH1
4 response to drug GO:0042493 9.7 CTNNB1 PTCH1 PTEN
5 canonical Wnt signaling pathway GO:0060070 9.61 CTNNB1 PTEN
6 hemopoiesis GO:0030097 9.6 CTNNB1 FLCN
7 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.58 FLCN PTEN
8 negative regulation of epithelial cell proliferation GO:0050680 9.58 PTCH1 PTEN
9 in utero embryonic development GO:0001701 9.58 CTNNB1 FLCN PTCH1
10 regulation of protein phosphorylation GO:0001932 9.57 FLCN FNIP1
11 cellular protein localization GO:0034613 9.55 CTNNB1 RRAGC
12 negative regulation of protein kinase B signaling GO:0051898 9.54 FLCN PTEN
13 branching involved in ureteric bud morphogenesis GO:0001658 9.51 CTNNB1 PTCH1
14 dorsal/ventral pattern formation GO:0009953 9.49 CTNNB1 PTCH1
15 negative regulation of TOR signaling GO:0032007 9.46 FLCN FNIP1
16 renal system development GO:0072001 9.37 CTNNB1 PTCH1
17 cell fate determination GO:0001709 9.32 CTNNB1 PTCH1
18 regulation of TOR signaling GO:0032006 9.26 FLCN RRAGC
19 positive regulation of TOR signaling GO:0032008 9.18 FLCN
20 TOR signaling GO:0031929 9.16 FLCN FNIP1
21 response to estradiol GO:0032355 9.13 CTNNB1 PTCH1 PTEN
22 regulation of pro-B cell differentiation GO:2000973 8.62 FLCN FNIP1

Sources for Birt-Hogg-Dube Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....