Birt-Hogg-Dube syndrome

Summary

Birt-Hogg-Dube syndrome (MONDO:0800444) is a disease caused by FLCN (GenCC Strong), with 3 cohort genes and 6 clinical trials. Top therapeutic interventions include everolimus.

At a glance

• Causal gene: FLCN (GenCC Strong)
• Cohort genes: 3
• ClinVar variants: 2,172
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Birt-Hogg-Dube syndrome
Mondo ID	MONDO:0800444
OMIM	135150
UMLS	C0346010
MedGen	91070
GARD	0028061
Is cancer (heuristic)	no

Also known as: BHD

Data availability: 2,172 ClinVar variants · 1 GenCC gene-disease record · 6 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › Birt-Hogg-Dube syndrome

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid syndrome

Subtypes (2): Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 2

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

234 uncertain significance, 174 likely benign, 76 benign/likely benign, 49 conflicting classifications of pathogenicity, 45 pathogenic, 11 likely pathogenic, 10 pathogenic/likely pathogenic, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1068460	NM_144997.7(FLCN):c.319_320del (p.Val107fs)	FLCN	Pathogenic	criteria provided, single submitter
1068469	NM_144997.7(FLCN):c.57_58del (p.Phe20fs)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1068651	NM_144997.7(FLCN):c.367C>T (p.Gln123Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1069125	NM_144997.7(FLCN):c.826_842del (p.Gly276fs)	FLCN	Pathogenic	criteria provided, single submitter
1069356	NC_000017.10:g.(?17131193)(17140502_?)del	FLCN	Pathogenic	criteria provided, single submitter
1069357	NC_000017.10:g.(?17127226)(17140502_?)del	FLCN	Pathogenic	criteria provided, single submitter
1071535	NM_144997.7(FLCN):c.827_828insAG (p.Ala277fs)	FLCN	Pathogenic	criteria provided, single submitter
1071737	NM_144997.7(FLCN):c.995dup (p.Ser333fs)	FLCN	Pathogenic	criteria provided, single submitter
1071832	NM_144997.7(FLCN):c.1477C>T (p.Gln493Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1071978	NM_144997.7(FLCN):c.321dup (p.Ser108fs)	FLCN	Pathogenic	criteria provided, single submitter
1072205	NM_144997.7(FLCN):c.397-1G>T	FLCN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072796	NM_144997.7(FLCN):c.1333_1352del (p.Ala445fs)	FLCN	Pathogenic	criteria provided, single submitter
1073198	NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1074043	NM_144997.7(FLCN):c.558G>A (p.Trp186Ter)	FLCN	Pathogenic	criteria provided, single submitter
1075238	NC_000017.10:g.(?17116969)(17140502_?)del	FLCN	Pathogenic	criteria provided, single submitter
1075239	NC_000017.10:g.(?17116969)(17117180_?)del	FLCN	Pathogenic	criteria provided, single submitter
1075380	NC_000017.10:g.(?17124841)(17125985_?)del	FLCN	Pathogenic	criteria provided, single submitter
1076330	NM_144997.7(FLCN):c.1616dup (p.Ala541fs)	FLCN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076910	NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1349973	NM_144997.7(FLCN):c.1300+1G>C	FLCN	Pathogenic	criteria provided, single submitter
1361458	NM_144997.7(FLCN):c.810del (p.Glu271fs)	FLCN	Pathogenic	criteria provided, single submitter
1361582	NM_144997.7(FLCN):c.476_479dup (p.Asp160fs)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1381774	NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)	FLCN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1382685	NM_144997.7(FLCN):c.919del (p.Glu307fs)	FLCN	Pathogenic	criteria provided, single submitter
1404404	NM_144997.7(FLCN):c.30del (p.Cys11fs)	FLCN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1408666	NM_144997.7(FLCN):c.1063-2A>G	FLCN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
141706	NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
141865	NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1451720	NM_144997.7(FLCN):c.1127G>A (p.Trp376Ter)	FLCN	Pathogenic	criteria provided, multiple submitters, no conflicts
1451945	NC_000017.10:g.(?17131193)(17131475_?)del	FLCN	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 12 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
FLCN	Definitive	Autosomal dominant	Birt-Hogg-Dube syndrome 1	12

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FLCN	Orphanet:122	Birt-Hogg-Dubé syndrome
FLCN	Orphanet:2903	Familial spontaneous pneumothorax
FLCN	Orphanet:422526	Hereditary clear cell renal cell carcinoma
PKD2	Orphanet:730	Autosomal dominant polycystic kidney disease

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FLCN	HGNC:27310	ENSG00000154803	Q8NFG4	Folliculin	gencc,clinvar
FLII	HGNC:3750	ENSG00000177731	Q13045	Protein flightless-1 homolog	clinvar
PKD2	HGNC:9009	ENSG00000118762	Q13563	Polycystin-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FLCN	Folliculin	Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis.
FLII	Protein flightless-1 homolog	Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments.
PKD2	Polycystin-2	Forms a nonselective cation channel.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	3	1.8×	0.174

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FLCN	Other/Unknown	no		Folliculin, Folliculin_DENN, Folliculin/SMCR8_longin
FLII	Other/Unknown	no		Leu-rich_rpt, Leu-rich_rpt_typical-subtyp, Villin/Gelsolin
PKD2	Other/Unknown	no		EF_hand_dom, PKD_2, EF-hand-dom_pair

Expression context

Cohort genes with no expression data: 0.

3 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
apex of heart	1
hindlimb stylopod muscle	1
lower esophagus mucosa	1
blood vessel layer	1
calcaneal tendon	1
saphenous vein	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FLCN	261	ubiquitous	marker	buccal mucosa cell, right hemisphere of cerebellum, cerebellar hemisphere
FLII	134	ubiquitous	marker	lower esophagus mucosa, apex of heart, hindlimb stylopod muscle
PKD2	288	ubiquitous	marker	blood vessel layer, calcaneal tendon, saphenous vein

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FLII	2,364
PKD2	1,644
FLCN	1,317

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PKD2	Q13563	31
FLCN	Q8NFG4	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FLII	Q13045	81.20

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 3 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
VxPx cargo-targeting to cilium	1	259.6×	0.008	PKD2
Amino acids regulate mTORC1	1	100.2×	0.010	FLCN

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
metanephric cortex development	1	5617.3×	0.004	PKD2
metanephric cortical collecting duct development	1	5617.3×	0.004	PKD2
metanephric distal tubule development	1	5617.3×	0.004	PKD2
negative regulation of cell proliferation involved in kidney development	1	5617.3×	0.004	FLCN
renal artery morphogenesis	1	2808.7×	0.004	PKD2
mesonephric tubule development	1	2808.7×	0.004	PKD2
metanephric smooth muscle tissue development	1	2808.7×	0.004	PKD2
detection of nodal flow	1	1872.4×	0.004	PKD2
cellular response to hydrostatic pressure	1	1872.4×	0.004	PKD2
cell proliferation involved in kidney development	1	1872.4×	0.004	FLCN
metanephric part of ureteric bud development	1	1404.3×	0.004	PKD2
renal tubule morphogenesis	1	1404.3×	0.004	PKD2
metanephric ascending thin limb development	1	1404.3×	0.004	PKD2
metanephric S-shaped body morphogenesis	1	1404.3×	0.004	PKD2
negative regulation of post-translational protein modification	1	1404.3×	0.004	FLCN
negative regulation of lysosome organization	1	1404.3×	0.004	FLCN
mesonephric duct development	1	1123.5×	0.005	PKD2
regulation of pro-B cell differentiation	1	1123.5×	0.005	FLCN
determination of liver left/right asymmetry	1	936.2×	0.005	PKD2
negative regulation of brown fat cell differentiation	1	936.2×	0.005	FLCN
metanephric mesenchyme development	1	802.5×	0.005	PKD2
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	1	802.5×	0.005	PKD2
regulation of calcium ion import	1	702.2×	0.006	PKD2
regulation of Ras protein signal transduction	1	624.1×	0.006	FLCN
placenta blood vessel development	1	468.1×	0.008	PKD2
cellular response to fluid shear stress	1	432.1×	0.008	PKD2
detection of mechanical stimulus	1	401.2×	0.008	PKD2
actin filament severing	1	401.2×	0.008	FLII
cellular response to osmotic stress	1	401.2×	0.008	PKD2
myofibril assembly	1	374.5×	0.009	FLII

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FLCN	0	0
FLII	0	0
PKD2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PKD2	12	Binding:12

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	3	FLCN, FLII, PKD2

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FLCN	0	—
FLII	0	—
PKD2	12	—

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02504892	PHASE2	TERMINATED	Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer
NCT03749980	Not specified	RECRUITING	MyVHL: Patient Natural History Study
NCT06330324	Not specified	ENROLLING_BY_INVITATION	Reproductive Options in Inherited Skin Diseases
NCT06330350	Not specified	RECRUITING	Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
NCT03040115	Not specified	COMPLETED	Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome
NCT05534854	Not specified	UNKNOWN	Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EVEROLIMUS	4	1