MCID: BRT002
MIFTS: 54

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 53 12 49 71 36 13 51 41 14 72 23 24 55
Fibrofolliculomas with Trichodiscomas and Acrochordons 53 49 24 55 71
Bhd 53 49 24 71
Hornstein-Knickenberg Syndrome 53 49 24
Multiple Fibrofolliculomas 69 28
Hornstein-Birt-Hogg-Dubé Syndrome 24
Birt Hogg Dube Syndrome 49
Birt-Hogg-Dub Syndrome 28
Bhd Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
birt-hogg-dubé syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

53
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:

31
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:



External Ids:

OMIM 53 135150
Disease Ontology 12 DOID:0050676
Orphanet 55 ORPHA122
MESH via Orphanet 42 D058249
UMLS via Orphanet 70 C0346010
MedGen 39 C0346010
MeSH 41 D058249
KEGG 36 H00818
UMLS 69 C0346010

Summaries for Birt-Hogg-Dube Syndrome

NIH Rare Diseases : 49 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 multiple fibrofolliculoma familial and pneumothorax, primary spontaneous, and has symptoms including abnormality of retinal pigmentation, emphysema and multiple lipomas. 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 Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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.

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 55)
# Related Disease Score Top Affiliating Genes
1 multiple fibrofolliculoma familial 12.3
2 pneumothorax, primary spontaneous 12.0
3 beukes hip dysplasia 11.8
4 bobble-head doll syndrome 11.7
5 discoid fibromas, familial multiple 11.5
6 renal oncocytoma 11.5
7 pneumothorax 10.6
8 renal cell carcinoma, nonpapillary 10.4
9 chromophobe renal cell carcinoma 10.4
10 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 FLCN PTEN
11 beckwith-wiedemann syndrome 10.3
12 lipomatosis, multiple 10.3
13 thyroid carcinoma, familial medullary 10.3
14 nipples, supernumerary 10.3
15 tuberous sclerosis 1 10.3
16 pulmonary arteriovenous fistulas 10.3
17 incontinentia pigmenti 10.3
18 langerhans cell histiocytosis 10.3
19 lymphangioleiomyomatosis 10.3
20 ciliopathy 10.3
21 arteriovenous malformation 10.3
22 tuberous sclerosis 10.3
23 melanoma 10.3
24 angiomyolipoma 10.3
25 histiocytosis 10.3
26 angiolipoma 10.3
27 adenoma 10.3
28 thyroiditis 10.3
29 parathyroid adenoma 10.3
30 peritonitis 10.3
31 lung disease 10.3
32 pulmonary arteriovenous malformation 10.3
33 female reproductive endometrioid cancer 10.2 CTNNB1 PTEN
34 polycystic liver disease 1 10.2 FLCN PTCH1
35 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.2 CTNNB1 PTEN
36 nodular medulloblastoma 10.2 CTNNB1 PTCH1
37 infratentorial cancer 10.1 CTNNB1 PTCH1
38 mismatch repair cancer syndrome 10.1 CTNNB1 PTEN
39 peutz-jeghers syndrome 10.1 CTNNB1 PTEN
40 clear cell renal cell carcinoma 10.1 FLCN FNIP1
41 endometrial adenocarcinoma 10.0 CTNNB1 PTEN
42 autosomal genetic disease 10.0 FLCN PTCH1 PTEN
43 familial renal oncocytoma 10.0 FH FLCN
44 ovarian cancer 1 10.0 CTNNB1 PTEN
45 hereditary renal cell carcinoma 9.9 FH FLCN
46 familial renal papillary carcinoma 9.9 FH FLCN
47 brain cancer 9.9 CTNNB1 PTCH1 PTEN
48 thyroid cancer, nonmedullary, 1 9.9 CTNNB1 PTCH1 PTEN
49 female reproductive organ cancer 9.9 CTNNB1 PTEN
50 basal cell carcinoma 9.9 CTNNB1 PTCH1 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:

53
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 Gastroin testinal:
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:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
2 emphysema 55 31 hallmark (90%) Very frequent (99-80%) HP:0002097
3 multiple lipomas 55 31 frequent (33%) Frequent (79-30%) HP:0001012
4 renal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0005584
5 parathyroid adenoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002897
6 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
7 pneumothorax 55 31 occasional (7.5%) Occasional (29-5%) HP:0002107
8 skin tags 55 31 hallmark (90%) Very frequent (99-80%) HP:0010609
9 medullary thyroid carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002865
10 pulmonary sequestration 55 31 frequent (33%) Frequent (79-30%) HP:0100632
11 spontaneous pneumothorax 31 HP:0002108
12 abnormality of the hair 31 HP:0001595
13 renal cyst 31 HP:0000107
14 abnormality of abdomen morphology 31 HP:0001438
15 fibrofolliculoma 31 HP:0030436

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

25 (show all 17)
# 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 FH FLCN RRAGC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 FLCN RRAGC

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 PTCH1 CTNNB1 PTEN FH FLCN FNIP1
2 homeostasis/metabolism MP:0005376 9.87 PTCH1 CTNNB1 PTEN FH FLCN FNIP1
3 mortality/aging MP:0010768 9.8 PTCH1 CTNNB1 PTEN FH FLCN FNIP1
4 neoplasm MP:0002006 9.63 PTCH1 CTNNB1 PTEN FLCN FNIP1 FNIP2
5 renal/urinary system MP:0005367 9.5 PTCH1 CTNNB1 PTEN FH FLCN FNIP1
6 taste/olfaction MP:0005394 8.8 PTCH1 CTNNB1 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)
# 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 46835353 6436030 5284616
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:


# 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:

# Genetic test Affiliating Genes
1 Multiple Fibrofolliculomas 28 FLCN
2 Birt-Hogg-Dub Syndrome 28

Anatomical Context for Birt-Hogg-Dube Syndrome

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

38
Skin, Kidney, Lung, Thyroid, Colon

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show all 47)
# Title Authors Year
1
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
2
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
3
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
4
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2017
5
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
6
Birt Hogg Dube Syndrome ( 28846260 )
2017
7
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. ( 28151982 )
2017
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
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. ( 27642565 )
2016
11
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
12
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. ( 26625667 )
2015
13
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. ( 25970555 )
2015
14
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. ( 25059020 )
2014
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
Birt-Hogg-Dube syndrome is a novel ciliopathy. ( 23784378 )
2013
18
An inherited cause of pneumothorax--the Birt-Hogg-Dube syndrome. ( 23904515 )
2013
19
Birt-Hogg-Dube syndrome. ( 22906666 )
2012
20
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. ( 23050938 )
2012
21
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. ( 21538689 )
2011
22
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. ( 21466061 )
2011
23
Thoracic CT findings in Birt-Hogg-Dube syndrome. ( 21257886 )
2011
24
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. ( 20392792 )
2010
25
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. ( 19785621 )
2010
26
Association between Birt Hogg Dube syndrome and cancer predisposition. ( 20392993 )
2010
27
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. ( 20413710 )
2010
28
Dermoscopic features of Birt-Hogg-Dube syndrome. ( 19841421 )
2009
29
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. ( 19659657 )
2009
30
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. ( 19101904 )
2008
31
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
32
Cystic lung disease in Birt-Hogg-Dube syndrome. ( 17505035 )
2007
33
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. ( 17903168 )
2007
34
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. ( 16928562 )
2006
35
[Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. ( 15746620 )
2005
36
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. ( 15852235 )
2005
37
Birt-Hogg-Dube syndrome. ( 15748585 )
2004
38
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12771781 )
2003
39
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. ( 11836379 )
2002
40
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12352424 )
2002
41
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. ( 12358810 )
2002
42
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
43
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. ( 11176677 )
2001
44
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. ( 11737429 )
2001
45
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. ( 9452372 )
1997
46
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. ( 8734663 )
1996
47
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
# 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 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh37 Chromosome 17, 17118313: 17118315
2 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh37 Chromosome 17, 17118304: 17118304
3 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh37 Chromosome 17, 17129638: 17129638
4 FLCN NM_144997.6(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh37 Chromosome 17, 17129590: 17129590
5 FLCN NM_144997.5(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh37 Chromosome 17, 17129566: 17129567
6 FLCN NM_144997.5(FLCN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs398124536 GRCh37 Chromosome 17, 17129540: 17129540
7 FLCN NM_144997.6(FLCN): c.610_611delGCinsTA (p.Ala204Ter) indel Pathogenic rs398124538 GRCh37 Chromosome 17, 17127243: 17127244
8 FLCN NM_144997.5(FLCN): c.890_893delAAAG (p.Glu297Alafs) deletion Pathogenic rs398124541 GRCh37 Chromosome 17, 17122502: 17122505
9 FLCN NM_144997.6(FLCN): c.927_954dup (p.Gly319Serfs) duplication Pathogenic rs398124542 GRCh37 Chromosome 17, 17122441: 17122468
10 FLCN NM_144997.6(FLCN): c.499C> T (p.Gln167Ter) single nucleotide variant Pathogenic rs587782069 GRCh37 Chromosome 17, 17127355: 17127355
11 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh37 Chromosome 17, 17127408: 17127408
12 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
13 FLCN NM_144997.6(FLCN): c.250-1G> A single nucleotide variant Pathogenic rs786202081 GRCh37 Chromosome 17, 17129637: 17129637
14 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
15 FLCN NM_144997.6(FLCN): c.1285delC (p.His429Thrfs) deletion Pathogenic rs80338683 GRCh37 Chromosome 17, 17119709: 17119709
16 FLCN NM_144997.6(FLCN): c.1389C> G (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
17 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
18 FLCN FLCN, 2-BP DEL/2-BP INS, NT610 indel Pathogenic
19 FLCN NM_144997.6(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_144997.6(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_144997.6(FLCN): c.189delC (p.Ala64Glnfs) deletion Pathogenic rs876660611 GRCh37 Chromosome 17, 17131263: 17131263
24 FLCN NM_144997.5(FLCN): c.59delT (p.Phe20Serfs) deletion Pathogenic rs876658390 GRCh37 Chromosome 17, 17131393: 17131393
25 FLCN NM_144997.6(FLCN): c.1539-2A> G single nucleotide variant Likely pathogenic rs878855214 GRCh37 Chromosome 17, 17117172: 17117172
26 FLCN NM_144997.5(FLCN): c.1219delA (p.Ser407Alafs) deletion Pathogenic rs878855213 GRCh37 Chromosome 17, 17119775: 17119775
27 FLCN NM_144997.5(FLCN): c.987delC (p.Ser330Profs) deletion Pathogenic rs878855221 GRCh38 Chromosome 17, 17219094: 17219094
28 FLCN NM_144997.5(FLCN): c.828delTinsAGA (p.Ala277Glufs) indel Pathogenic rs878855220 GRCh37 Chromosome 17, 17124894: 17124894
29 FLCN NM_144997.5(FLCN): c.780-1G> C single nucleotide variant Likely pathogenic rs878855218 GRCh37 Chromosome 17, 17124943: 17124943
30 FLCN NM_144997.6(FLCN): c.584delG (p.Gly195Glufs) deletion Pathogenic rs878855217 GRCh37 Chromosome 17, 17127270: 17127270
31 FLCN NM_144997.6(FLCN): c.347dup (p.Leu117Alafs) duplication Pathogenic rs776896550 GRCh38 Chromosome 17, 17226225: 17226225
32 FLCN NM_144997.6(FLCN): c.113delG (p.Ser38Ilefs) deletion Pathogenic rs878855212 GRCh38 Chromosome 17, 17228025: 17228025
33 FLCN NM_144997.5(FLCN): c.1579_1580insA (p.Arg527Glnfs) insertion Pathogenic rs753009073 GRCh37 Chromosome 17, 17117129: 17117130
34 FLCN NM_144997.6(FLCN): c.1579C> T (p.Arg527Ter) single nucleotide variant Pathogenic/Likely pathogenic rs879255683 GRCh37 Chromosome 17, 17117130: 17117130
35 FLCN NM_144997.5(FLCN): c.1532G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs879255682 GRCh37 Chromosome 17, 17118305: 17118305
36 FLCN NM_144997.5(FLCN): c.1528_1530delGAG (p.Glu510del) deletion Pathogenic/Likely pathogenic rs879255681 GRCh37 Chromosome 17, 17118307: 17118309
37 FLCN NM_144997.5(FLCN): c.1528delG (p.Glu510Serfs) deletion Pathogenic rs879255680 GRCh38 Chromosome 17, 17214995: 17214995
38 FLCN NM_144997.6(FLCN): c.1487_1490dup (p.Asp498Cysfs) duplication Pathogenic rs879255679 GRCh38 Chromosome 17, 17215033: 17215036
39 FLCN NM_144997.6(FLCN): c.1432+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs755959303 GRCh37 Chromosome 17, 17118498: 17118498
40 FLCN NM_144997.6(FLCN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs879255678 GRCh38 Chromosome 17, 17215188: 17215188
41 FLCN NM_144997.5(FLCN): c.1389C> A (p.Tyr463Ter) single nucleotide variant Pathogenic rs137852929 GRCh37 Chromosome 17, 17118542: 17118542
42 FLCN NM_144997.6(FLCN): c.1318_1334dup (p.Leu449Glnfs) duplication Pathogenic rs879255677 GRCh38 Chromosome 17, 17215283: 17215299
43 FLCN NM_144997.5(FLCN): c.1300+1G> A single nucleotide variant Pathogenic rs879255676 GRCh37 Chromosome 17, 17119693: 17119693
44 FLCN NM_144997.6(FLCN): c.1286dup (p.His429Glnfs) duplication Pathogenic rs879255675 GRCh38 Chromosome 17, 17216394: 17216394
45 FLCN NM_144997.5(FLCN): c.1124_1139del16 (p.Ile375Thrfs) deletion Pathogenic rs879255673 GRCh37 Chromosome 17, 17120420: 17120435
46 FLCN NM_144997.5(FLCN): c.1098G> A (p.Trp366Ter) single nucleotide variant Pathogenic rs879255672 GRCh37 Chromosome 17, 17120461: 17120461
47 FLCN NM_144997.5(FLCN): c.1036_1043delTTCAAGTC (p.Phe346Profs) deletion Pathogenic rs879255670 GRCh38 Chromosome 17, 17219038: 17219045
48 FLCN NM_144997.6(FLCN): c.927dup (p.Ala310Serfs) duplication Pathogenic rs879255669 GRCh37 Chromosome 17, 17122468: 17122468
49 FLCN NM_144997.6(FLCN): c.875T> G (p.Leu292Ter) single nucleotide variant Pathogenic rs879255668 GRCh38 Chromosome 17, 17219206: 17219206
50 FLCN NM_144997.5(FLCN): c.853C> T (p.Gln285Ter) single nucleotide variant Pathogenic rs879255667 GRCh37 Chromosome 17, 17124869: 17124869

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
11.48 FLCN FNIP1 FNIP2 PTEN RRAGC

GO Terms for Birt-Hogg-Dube Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.75 CTNNB1 FLCN PTEN
2 response to drug GO:0042493 9.73 CTNNB1 PTCH1 PTEN
3 in utero embryonic development GO:0001701 9.65 CTNNB1 FLCN PTCH1
4 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.59 FLCN PTEN
5 negative regulation of epithelial cell proliferation GO:0050680 9.58 PTCH1 PTEN
6 negative regulation of protein kinase B signaling GO:0051898 9.57 FLCN PTEN
7 cellular protein localization GO:0034613 9.55 CTNNB1 RRAGC
8 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 CTNNB1 FLCN FNIP1 FNIP2 PTCH1
9 branching involved in ureteric bud morphogenesis GO:0001658 9.54 CTNNB1 PTCH1
10 dorsal/ventral pattern formation GO:0009953 9.52 CTNNB1 PTCH1
11 positive regulation of TOR signaling GO:0032008 9.51 FLCN RRAGC
12 negative regulation of TOR signaling GO:0032007 9.49 FLCN FNIP1
13 positive regulation of protein complex assembly GO:0031334 9.46 FNIP1 FNIP2
14 renal system development GO:0072001 9.43 CTNNB1 PTCH1
15 response to estradiol GO:0032355 9.43 CTNNB1 PTCH1 PTEN
16 cell fate determination GO:0001709 9.4 CTNNB1 PTCH1
17 regulation of TOR signaling GO:0032006 9.37 FLCN RRAGC
18 TOR signaling GO:0031929 9.32 FLCN FNIP1
19 regulation of protein phosphorylation GO:0001932 9.13 FLCN FNIP1 FNIP2
20 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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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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