BHD
MCID: BRT002
MIFTS: 52

Birt-Hogg-Dube Syndrome (BHD) malady

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

Aliases & Classifications for Birt-Hogg-Dube Syndrome

Aliases & Descriptions for Birt-Hogg-Dube Syndrome:

Name: Birt-Hogg-Dube Syndrome 54 12 50 24 66 13 52 42 14 23 25 56
Fibrofolliculomas with Trichodiscomas and Acrochordons 50 25 56 66
Bhd 50 24 25 66
Hornstein-Knickenberg Syndrome 50 25
Birt Hogg Dube Syndrome 50 29
Hornstein-Birt-Hogg-Dubé Syndrome 25
Multiple Fibrofolliculomas 69
Bhd Syndrome 50

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

23
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 54 135150
Disease Ontology 12 DOID:0050676
Orphanet 56 ORPHA122
MESH via Orphanet 43 D058249
UMLS via Orphanet 70 C0346010
MedGen 40 C0346010
MeSH 42 D058249

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 renal cell carcinoma and bobble-head doll syndrome, 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 Development HGF signaling pathway and Endometrial cancer. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney 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... (135150) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé 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 all 49)
id Related Disease Score Top Affiliating Genes
1 renal cell carcinoma 11.7
2 bobble-head doll syndrome 11.6
3 pneumothorax, primary spontaneous 11.5
4 renal oncocytoma 11.4
5 hip dysplasia, beukes type 11.3
6 pneumothorax 10.5
7 chromophobe renal cell carcinoma 10.3
8 incontinentia pigmenti 10.2
9 peritonitis 10.2
10 lipoma 10.2
11 lung disease 10.2
12 pulmonary arteriovenous malformation 10.2
13 ciliopathy 10.2
14 arteriovenous malformation 10.2
15 tuberous sclerosis 10.2
16 melanoma 10.2
17 angiomyolipoma 10.2
18 histiocytosis 10.2
19 angiolipoma 10.2
20 beckwith-wiedemann syndrome 10.2
21 adenoma 10.2
22 lymphangioleiomyomatosis 10.2
23 thyroiditis 10.2
24 parathyroid adenoma 10.2
25 polycythemia 10.1 FLCN MTOR
26 breast ductal carcinoma 10.1 CTNNB1 PTEN
27 adult syndrome 10.1 CTNNB1 PTEN
28 gallbladder cancer 10.1 FLCN MTOR
29 intestinal pseudo-obstruction 10.1 CTNNB1 PTCH1
30 chronic pain 10.1 CTNNB1 PTEN
31 hemorrhagic proctocolitis 10.1 CTNNB1 MTOR
32 fibromatosis, gingival, 1 10.1 CTNNB1 PTEN
33 childhood central nervous system primitive neuroectodermal neoplasm 10.1 CTNNB1 PTCH1
34 focal cortical dysplasia, taylor balloon cell type 10.1 MTOR PTEN
35 complement deficiency 10.0 FH FLCN
36 urticaria 10.0 FLCN FNIP1
37 renal clear cell carcinoma 10.0 FH FLCN
38 pineal dysgerminoma 10.0 MTOR PTEN
39 extragonadal germ cell cancer 10.0 CTNNB1 PTCH1
40 rectum kaposi's sarcoma 10.0 FH FLCN
41 herpes simplex encephalitic 6 10.0 CTNNB1 PTCH1 PTEN
42 nodular goiter 10.0 CTNNB1 PTCH1 PTEN
43 caroli disease 9.9 CTNNB1 PTCH1
44 ocular melanoma 9.9 CTNNB1 PTCH1 PTEN
45 lipoadenoma 9.9 FH FLCN
46 neurological consequences of cytomegalovirus infection 9.9 MTOR PTEN
47 ovarian brenner tumor 9.7 FH FLCN MTOR PTEN
48 bernard-soulier syndrome, type c 9.7 FH FLCN MTOR PTEN
49 thyrotoxic periodic paralysis 2 9.0 CTNNB1 FH FLCN FNIP1 MTOR PTCH1

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 by clinical synopsis from OMIM:

135150

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 abnormality of retinal pigmentation 56 32 Frequent (79-30%) HP:0007703
2 emphysema 56 32 Very frequent (99-80%) HP:0002097
3 multiple lipomas 56 32 Frequent (79-30%) HP:0001012
4 renal cell carcinoma 56 32 Occasional (29-5%) HP:0005584
5 parathyroid adenoma 56 32 Occasional (29-5%) HP:0002897
6 papule 56 32 Very frequent (99-80%) HP:0200034
7 pneumothorax 56 32 Occasional (29-5%) HP:0002107
8 skin tags 56 32 Very frequent (99-80%) HP:0010609
9 medullary thyroid carcinoma 56 32 Occasional (29-5%) HP:0002865
10 pulmonary sequestration 56 32 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 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-105 9.7 MTOR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 MTOR CTNNB1 FLCN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 CTNNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 FLCN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 FLCN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 MTOR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 CTNNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 FLCN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.7 CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.7 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 FLCN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.7 CTNNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.7 MTOR CTNNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.7 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.7 FLCN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.7 CTNNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 FLCN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 MTOR

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.98 CTNNB1 FH FLCN FNIP1 MTOR PTCH1
2 cardiovascular system MP:0005385 9.93 CTNNB1 FLCN FNIP1 MTOR PTCH1 PTEN
3 homeostasis/metabolism MP:0005376 9.87 CTNNB1 FH FLCN FNIP1 MTOR PTCH1
4 hematopoietic system MP:0005397 9.85 CTNNB1 FLCN FNIP1 MTOR PTCH1 PTEN
5 embryo MP:0005380 9.8 CTNNB1 FLCN MTOR PTCH1 PTEN
6 immune system MP:0005387 9.73 CTNNB1 FLCN FNIP1 MTOR PTCH1 PTEN
7 muscle MP:0005369 9.55 FNIP1 MTOR PTCH1 PTEN CTNNB1
8 neoplasm MP:0002006 9.35 CTNNB1 FLCN FNIP1 PTCH1 PTEN
9 renal/urinary system MP:0005367 9.17 PTCH1 PTEN CTNNB1 FH FLCN FNIP1

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Topical Rapamycin for Fibrofolliculomas Completed NCT00928798 Phase 3
2 Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer Recruiting NCT02504892 Phase 2
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
Lung, Kidney, Skin, Thyroid

Publications for Birt-Hogg-Dube Syndrome

Articles related to Birt-Hogg-Dube Syndrome:

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

66
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 63)
id Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.5(FLCN): c.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_144997.5(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_144997.5(FLCN): c.927_954dup28 (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 GRCh38 Chromosome 17, 17224069: 17224071
18 FLCN NM_144997.5(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 GRCh37 Chromosome 17, 17117172: 17117172
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_144997.5(FLCN): c.347dupA (p.Leu117Alafs) duplication Pathogenic rs776896550 GRCh38 Chromosome 17, 17226225: 17226225
31 FLCN NM_144997.5(FLCN): c.113delG (p.Ser38Ilefs) deletion Pathogenic rs878855212 GRCh37 Chromosome 17, 17131339: 17131339
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 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_144997.5(FLCN): c.1487_1490dupCTGT (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_144997.5(FLCN): c.1318_1334dup17 (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_144997.5(FLCN): c.1286dupA (p.His429Glnfs) duplication Pathogenic rs879255675 GRCh37 Chromosome 17, 17119708: 17119708
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_144997.5(FLCN): c.927dupA (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

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 CTNNB1 FH FLCN MTOR PTEN
2
Show member pathways
11.96 CTNNB1 MTOR PTEN
3
Show member pathways
11.93 FLCN FNIP1 MTOR PTEN
4 11.89 CTNNB1 MTOR PTCH1
5 11.73 CTNNB1 MTOR PTEN
6
Show member pathways
11.66 CTNNB1 MTOR PTEN
7 11.62 CTNNB1 FH MTOR PTCH1 PTEN
8 11.48 CTNNB1 MTOR PTEN
9 11.34 MTOR PTEN
10 11.23 CTNNB1 MTOR
11 10.99 MTOR PTEN
12 10.95 CTNNB1 MTOR
13 10.93 MTOR PTEN

GO Terms for Birt-Hogg-Dube Syndrome

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.83 CTNNB1 FLCN FNIP1 PTCH1
2 negative regulation of cell proliferation GO:0008285 9.81 CTNNB1 PTCH1 PTEN
3 positive regulation of gene expression GO:0010628 9.79 CTNNB1 MTOR PTEN
4 positive regulation of apoptotic process GO:0043065 9.77 CTNNB1 FLCN PTEN
5 response to drug GO:0042493 9.76 CTNNB1 PTCH1 PTEN
6 in utero embryonic development GO:0001701 9.69 CTNNB1 FLCN PTCH1
7 negative regulation of protein phosphorylation GO:0001933 9.63 MTOR PTEN
8 negative regulation of epithelial cell proliferation GO:0050680 9.62 PTCH1 PTEN
9 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.62 FLCN PTEN
10 heart morphogenesis GO:0003007 9.61 MTOR PTCH1
11 positive regulation of protein phosphorylation GO:0001934 9.61 FLCN FNIP1 MTOR
12 social behavior GO:0035176 9.6 MTOR PTEN
13 dorsal/ventral pattern formation GO:0009953 9.58 CTNNB1 PTCH1
14 branching involved in ureteric bud morphogenesis GO:0001658 9.57 CTNNB1 PTCH1
15 negative regulation of protein kinase B signaling GO:0051898 9.56 FLCN PTEN
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.55 CTNNB1 MTOR
17 negative regulation of TOR signaling GO:0032007 9.54 FLCN FNIP1
18 cardiac muscle tissue development GO:0048738 9.49 MTOR PTEN
19 renal system development GO:0072001 9.48 CTNNB1 PTCH1
20 cell fate determination GO:0001709 9.46 CTNNB1 PTCH1
21 response to estradiol GO:0032355 9.43 CTNNB1 PTCH1 PTEN
22 regulation of osteoclast differentiation GO:0045670 9.4 CTNNB1 MTOR
23 regulation of myelination GO:0031641 9.37 CTNNB1 MTOR
24 negative regulation of cell size GO:0045792 9.32 MTOR PTEN
25 regulation of pro-B cell differentiation GO:2000973 9.16 FLCN FNIP1
26 regulation of protein phosphorylation GO:0001932 9.13 FLCN FNIP1 MTOR
27 TOR signaling GO:0031929 8.8 FLCN FNIP1 MTOR

Molecular functions related to Birt-Hogg-Dube Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.8 CTNNB1 MTOR PTEN

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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