MCID: BRT002
MIFTS: 53

Birt-Hogg-Dube Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological 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 53 75 37 13 55 44 15 40 76 24 25 59
Fibrofolliculomas with Trichodiscomas and Acrochordons 57 53 25 59 75
Bhd 57 53 25 75
Hornstein-Knickenberg Syndrome 57 53 25
Birt-Hogg-Dub Syndrome 29 6
Hornstein-Birt-Hogg-Dubé Syndrome 25
Multiple Fibrofolliculomas 73
Birt Hogg Dube Syndrome 53
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
Orphanet 59 ORPHA122
MESH via Orphanet 45 D058249
UMLS via Orphanet 74 C0346010
MedGen 42 C0346010
MeSH 44 D058249
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 kidney angiomyolipoma 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 Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and skin, and related phenotypes are multiple lipomas and emphysema

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 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 54)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 30.9 FLCN FNIP1
2 pneumothorax 30.3 FLCN FNIP1 FNIP2
3 pneumothorax, primary spontaneous 12.0
4 beukes hip dysplasia 11.8
5 bobble-head doll syndrome 11.7
6 discoid fibromas, familial multiple 11.5
7 renal oncocytoma 11.5
8 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 FLCN PTEN
9 female reproductive endometrioid cancer 10.4 CTNNB1 PTEN
10 renal cell carcinoma, nonpapillary 10.4
11 chromophobe renal cell carcinoma 10.4
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.4 CTNNB1 PTEN
13 mismatch repair cancer syndrome 10.3 CTNNB1 PTEN
14 nodular medulloblastoma 10.3 CTNNB1 PTCH1
15 anaplastic thyroid cancer 10.3 CTNNB1 PTEN
16 beckwith-wiedemann syndrome 10.3
17 thyroid carcinoma, familial medullary 10.3
18 nipples, supernumerary 10.3
19 tuberous sclerosis 1 10.3
20 pulmonary arteriovenous fistulas 10.3
21 incontinentia pigmenti 10.3
22 oncocytoma 10.3
23 langerhans cell histiocytosis 10.3
24 lymphangioleiomyomatosis 10.3
25 arteriovenous malformation 10.3
26 tuberous sclerosis 10.3
27 melanoma 10.3
28 angiomyolipoma 10.3
29 histiocytosis 10.3
30 angiolipoma 10.3
31 adenoma 10.3
32 thyroiditis 10.3
33 parathyroid adenoma 10.3
34 peritonitis 10.3
35 lung disease 10.3
36 pulmonary arteriovenous malformation 10.3
37 polycystic liver disease 1 with or without kidney cysts 10.3 FLCN PTCH1
38 infratentorial cancer 10.2 CTNNB1 PTCH1
39 peutz-jeghers syndrome 10.2 CTNNB1 PTEN
40 suppression of tumorigenicity 12 10.1 CTNNB1 PTEN
41 female reproductive organ cancer 10.1 CTNNB1 PTEN
42 familial renal oncocytoma 10.0 FH FLCN
43 autosomal genetic disease 10.0 FLCN PTCH1 PTEN
44 hereditary renal cell carcinoma 9.9 FH FLCN
45 familial renal papillary carcinoma 9.9 FH FLCN
46 brain cancer 9.8 CTNNB1 PTCH1 PTEN
47 basal cell carcinoma 9.8 CTNNB1 PTCH1 PTEN
48 cell type benign neoplasm 9.7 CTNNB1 FH
49 squamous cell carcinoma 9.7 CTNNB1 PTCH1 PTEN
50 respiratory system 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:

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

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 FNIP2 PTCH1 CTNNB1 PTEN FH FLCN
2 homeostasis/metabolism MP:0005376 9.87 FNIP2 PTCH1 CTNNB1 PTEN FH FLCN
3 mortality/aging MP:0010768 9.8 FNIP1 FNIP2 PTCH1 CTNNB1 PTEN FH
4 neoplasm MP:0002006 9.63 FNIP2 PTCH1 CTNNB1 PTEN FLCN FNIP1
5 renal/urinary system MP:0005367 9.5 FNIP2 PTCH1 CTNNB1 PTEN FH FLCN
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 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:


# 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 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 Birt-Hogg-Dub Syndrome 29

Anatomical Context for Birt-Hogg-Dube Syndrome

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

41
Kidney, Lung, Skin, Thyroid, Colon, Adrenal Gland

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

(show all 49)
# 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
Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. ( 28470670 )
2017
4
Birt Hogg Dube Syndrome ( 28846260 )
2017
5
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. ( 28151982 )
2017
6
Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. ( 28242119 )
2017
7
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene. ( 28805452 )
2017
8
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. ( 28785590 )
2017
9
Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. ( 26877139 )
2016
10
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. ( 27643397 )
2016
11
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. ( 27642565 )
2016
12
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. ( 27867584 )
2016
13
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. ( 25970555 )
2015
14
BIRT-HOGG-DUBE SYNDROME: A CASE REPORT. ( 26625667 )
2015
15
A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. ( 25059020 )
2014
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: clinicopathological features of the lung. ( 23223565 )
2013
20
Birt-Hogg-Dube syndrome. ( 22906666 )
2012
21
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. ( 23050938 )
2012
22
Thoracic CT findings in Birt-Hogg-Dube syndrome. ( 21257886 )
2011
23
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. ( 21538689 )
2011
24
Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. ( 21466061 )
2011
25
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. ( 20413710 )
2010
26
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. ( 19785621 )
2010
27
Association between Birt Hogg Dube syndrome and cancer predisposition. ( 20392993 )
2010
28
The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. ( 20392792 )
2010
29
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. ( 19659657 )
2009
30
[Sporadic Birt-Hogg-Dube syndrome]. ( 19777910 )
2009
31
Dermoscopic features of Birt-Hogg-Dube syndrome. ( 19841421 )
2009
32
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
33
An unusual case of Birt-Hogg-Dube syndrome with renal involvement. ( 19101904 )
2008
34
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. ( 17903168 )
2007
35
Cystic lung disease in Birt-Hogg-Dube syndrome. ( 17505035 )
2007
36
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. ( 16928562 )
2006
37
[Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]. ( 15746620 )
2005
38
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. ( 15852235 )
2005
39
Birt-Hogg-Dube syndrome. ( 15748585 )
2004
40
Re: Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12771781 )
2003
41
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. ( 11836379 )
2002
42
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dube syndrome. ( 12352424 )
2002
43
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
44
Histomorphologic and immunophenotypic analysis of fibrofolliculomas and trichodiscomas in Birt-Hogg-Dube syndrome and sporadic disease. ( 12358810 )
2002
45
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. ( 11737429 )
2001
46
Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. ( 11176677 )
2001
47
Asymptomatic facial papules and acrochordons of the thighs. Birt-Hogg-Dube syndrome. ( 9452372 )
1997
48
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. ( 8734663 )
1996
49
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:

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 688)
# 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_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
8 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
9 FLCN FLCN, 2-BP DEL/2-BP INS, NT610 indel Pathogenic
10 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh37 Chromosome 17, 17120442: 17120442
11 FLCN NM_144997.5(FLCN): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs398124524 GRCh38 Chromosome 17, 17217128: 17217128
12 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh37 Chromosome 17, 17118313: 17118315
13 FLCN NM_144997.5(FLCN): c.1522_1524delAAG (p.Lys508del) deletion Pathogenic/Likely pathogenic rs398124529 GRCh38 Chromosome 17, 17214999: 17215001
14 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh37 Chromosome 17, 17118304: 17118304
15 FLCN NM_144997.6(FLCN): c.1533G> A (p.Trp511Ter) single nucleotide variant Pathogenic rs398124530 GRCh38 Chromosome 17, 17214990: 17214990
16 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh37 Chromosome 17, 17129638: 17129638
17 FLCN NM_144997.6(FLCN): c.250-2A> G single nucleotide variant Pathogenic rs398124533 GRCh38 Chromosome 17, 17226324: 17226324
18 FLCN NM_144997.6(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh37 Chromosome 17, 17129590: 17129590
19 FLCN NM_144997.6(FLCN): c.296delA (p.Asp99Valfs) deletion Pathogenic rs398124534 GRCh38 Chromosome 17, 17226276: 17226276
20 FLCN NM_144997.6(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh37 Chromosome 17, 17129566: 17129567
21 FLCN NM_144997.6(FLCN): c.319_320delGTinsCAC (p.Val107Hisfs) indel Pathogenic rs398124535 GRCh38 Chromosome 17, 17226252: 17226253
22 FLCN NM_144997.5(FLCN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs398124536 GRCh37 Chromosome 17, 17129540: 17129540
23 FLCN NM_144997.5(FLCN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs398124536 GRCh38 Chromosome 17, 17226226: 17226226
24 FLCN NM_144997.6(FLCN): c.610_611delGCinsTA (p.Ala204Ter) indel Pathogenic rs398124538 GRCh37 Chromosome 17, 17127243: 17127244
25 FLCN NM_144997.6(FLCN): c.610_611delGCinsTA (p.Ala204Ter) indel Pathogenic rs398124538 GRCh38 Chromosome 17, 17223929: 17223930
26 FLCN NM_144997.5(FLCN): c.890_893delAAAG (p.Glu297Alafs) deletion Pathogenic rs398124541 GRCh37 Chromosome 17, 17122502: 17122505
27 FLCN NM_144997.5(FLCN): c.890_893delAAAG (p.Glu297Alafs) deletion Pathogenic rs398124541 GRCh38 Chromosome 17, 17219188: 17219191
28 FLCN NM_144997.6(FLCN): c.927_954dup (p.Gly319Serfs) duplication Pathogenic rs398124542 GRCh37 Chromosome 17, 17122441: 17122468
29 FLCN NM_144997.6(FLCN): c.927_954dup (p.Gly319Serfs) duplication Pathogenic rs398124542 GRCh38 Chromosome 17, 17219127: 17219154
30 FLCN NM_144997.6(FLCN): c.499C> T (p.Gln167Ter) single nucleotide variant Pathogenic rs587782069 GRCh37 Chromosome 17, 17127355: 17127355
31 FLCN NM_144997.6(FLCN): c.499C> T (p.Gln167Ter) single nucleotide variant Pathogenic rs587782069 GRCh38 Chromosome 17, 17224041: 17224041
32 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
33 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh38 Chromosome 17, 17222501: 17222501
34 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh37 Chromosome 17, 17127408: 17127408
35 FLCN NM_144997.5(FLCN): c.446delG (p.Gly149Alafs) deletion Likely pathogenic rs727504645 GRCh38 Chromosome 17, 17224094: 17224094
36 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh37 Chromosome 17, 17118285: 17118285
37 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh38 Chromosome 17, 17214971: 17214971
38 FLCN NM_144997.6(FLCN): c.1692C> T (p.His564=) single nucleotide variant Likely benign rs201810397 GRCh37 Chromosome 17, 17117017: 17117017
39 FLCN NM_144997.6(FLCN): c.1692C> T (p.His564=) single nucleotide variant Likely benign rs201810397 GRCh38 Chromosome 17, 17213703: 17213703
40 FLCN NM_144997.6(FLCN): c.1635C> G (p.Asp545Glu) single nucleotide variant Uncertain significance rs760329266 GRCh37 Chromosome 17, 17117074: 17117074
41 FLCN NM_144997.6(FLCN): c.1635C> G (p.Asp545Glu) single nucleotide variant Uncertain significance rs760329266 GRCh38 Chromosome 17, 17213760: 17213760
42 FLCN NM_144997.6(FLCN): c.1283C> A (p.Pro428His) single nucleotide variant Uncertain significance rs199889477 GRCh37 Chromosome 17, 17119711: 17119711
43 FLCN NM_144997.6(FLCN): c.1283C> A (p.Pro428His) single nucleotide variant Uncertain significance rs199889477 GRCh38 Chromosome 17, 17216397: 17216397
44 FLCN NM_144997.6(FLCN): c.1278C> T (p.Ile426=) single nucleotide variant Likely benign rs41459448 GRCh37 Chromosome 17, 17119716: 17119716
45 FLCN NM_144997.6(FLCN): c.1278C> T (p.Ile426=) single nucleotide variant Likely benign rs41459448 GRCh38 Chromosome 17, 17216402: 17216402
46 FLCN NM_144997.5(FLCN): c.1274A> G (p.Gln425Arg) single nucleotide variant Uncertain significance rs786203348 GRCh37 Chromosome 17, 17119720: 17119720
47 FLCN NM_144997.5(FLCN): c.1274A> G (p.Gln425Arg) single nucleotide variant Uncertain significance rs786203348 GRCh38 Chromosome 17, 17216406: 17216406
48 FLCN NM_144997.6(FLCN): c.1059G> A (p.Arg353=) single nucleotide variant Likely benign rs751513488 GRCh37 Chromosome 17, 17122336: 17122336
49 FLCN NM_144997.6(FLCN): c.1059G> A (p.Arg353=) single nucleotide variant Likely benign rs751513488 GRCh38 Chromosome 17, 17219022: 17219022
50 FLCN NM_144997.5(FLCN): c.804G> T (p.Arg268=) single nucleotide variant Likely benign rs771424902 GRCh37 Chromosome 17, 17124918: 17124918

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 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.74 CTNNB1 FLCN PTEN
2 response to drug GO:0042493 9.72 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 9.6 FLCN PTEN
5 cellular response to starvation GO:0009267 9.59 FNIP1 RRAGC
6 negative regulation of epithelial cell proliferation GO:0050680 9.58 PTCH1 PTEN
7 cellular protein localization GO:0034613 9.58 CTNNB1 RRAGC
8 negative regulation of protein kinase B signaling GO:0051898 9.56 FLCN PTEN
9 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 CTNNB1 FLCN FNIP1 FNIP2 PTCH1
10 branching involved in ureteric bud morphogenesis GO:0001658 9.54 CTNNB1 PTCH1
11 dorsal/ventral pattern formation GO:0009953 9.52 CTNNB1 PTCH1
12 positive regulation of TOR signaling GO:0032008 9.51 FLCN RRAGC
13 negative regulation of TOR signaling GO:0032007 9.49 FLCN FNIP1
14 positive regulation of protein complex assembly GO:0031334 9.46 FNIP1 FNIP2
15 renal system development GO:0072001 9.43 CTNNB1 PTCH1
16 response to estradiol GO:0032355 9.43 CTNNB1 PTCH1 PTEN
17 cell fate determination GO:0001709 9.4 CTNNB1 PTCH1
18 regulation of TOR signaling GO:0032006 9.37 FLCN RRAGC
19 TOR signaling GO:0031929 9.32 FLCN FNIP1
20 regulation of protein phosphorylation GO:0001932 9.13 FLCN FNIP1 FNIP2
21 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....