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birt-hogg-dube-syndrome
Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome (BHD) is caused by germline FLCN mutations; fibrofolliculomas (skin), pulmonary cysts (pneumothorax risk 7×), bilateral multifocal chromophobe/hybrid oncocytic RCC (~30% lifetime); nephron-sparing surveillance surgery; mTOR inhibitors explored.
Entry Metadata
| Field | Value |
|---|---|
| ID | birt-hogg-dube-syndrome |
| Name | Birt-Hogg-Dubé Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toFlcn
connects-toMtor
connects-toVhl
connects-toRenal Cell Carcinoma
connects-toLung
connects-toSkin
connects-toAmpk
connects-toCowden Syndrome
connects-toType Ii Pneumocyte
connects-toKidney
connects-toTuberous Sclerosis Complex
connects-toHlrcc
connects-toVhl Disease
connects-toFibroblast
connects-toRenal System
connects-toRespiratory System
connects-toPten
connects-toAutophagy
connects-toCollagen
connects-toIntegumentary System
connects-toColorectal Cancer
connects-toThyroid Cancer
connects-toMen1 Syndrome
connects-toAdipocyte
connects-toPancreas
connects-toOxygen
connects-toMet
connects-toAkt
connects-toHif 1Alpha
connects-toMacrophage
connects-toLarge Intestine
connects-toNitrogen
connects-toFibrosis
connects-toVegf
connects-toPhoton
connects-toAlveolus
connects-toThyroid
connects-toElectron
connects-toEye
connects-toAdrenal Gland
connects-toSmooth Muscle Cell
connects-toEndothelial Cell
connects-toStomach
connects-toReproductive System
connects-toBasal Cell Carcinoma
connects-toErythrocyte
connects-toMelanoma
connects-toCyclin D1
connects-toPeutz Jeghers Syndrome
connects-toCopd
connects-toTgf Beta
connects-toP53
connects-toNf Kb
connects-toStat3
connects-toCkd
connects-toAnemia Of Chronic Disease
connects-toVenous Thromboembolism
connects-toMajor Depressive Disorder
connects-toAspergillus Fumigatus
connects-toSepsis
connects-toGeneralized Anxiety Disorder
connects-toWound Healing
connects-toDigestive System
connects-toEndocrine System
connects-toCardiovascular System
connects-toMusculoskeletal System
connects-toImmune System
connects-toNeurofibromatosis Type 1
connects-toNeurofibromatosis Type 2
connects-toGorlin Syndrome
connects-toTargeted Therapy
connects-toDicer1 Syndrome
connects-toCarney Complex
connects-toLung Slice
connects-toCancer Chemotherapy
connects-toCheckpoint Inhibitors
connects-toStk11
connects-toAtp
connects-toLi Fraumeni Syndrome
connects-toMarfan Syndrome
connects-toCystic Fibrosis
connects-toIntestinal Epithelium
connects-toTsc1 Tsc2
connects-toYap1
connects-toPheochromocytoma Paraganglioma
connects-toMyc
connects-toNfe2L2
connects-toWnt Beta Catenin
connects-toFoxo1
connects-toErk1 2
connects-toEgln1
connects-toCdh1
connects-toSdhb
connects-toTert
connects-toFh
connects-toIgf 1
connects-toCaspase 3
connects-toPik3Ca
connects-toNotch
connects-toBcl 2
connects-toIdh1
connects-toPdgf
connects-toKras
connects-toEpas1
connects-toGalectin 3
connects-toJak1 2
connects-toStat1
connects-toSmad4
connects-toCgas Sting
connects-toCdk4 6
connects-toPerforin
connects-toGsk 3B
connects-toMdm2
connects-toS100A8 A9
connects-toSrc Kinase
connects-toDnmt3A
connects-toCcr5
connects-toArid1A
connects-toCxcl12
connects-toIl 1B
connects-toIl 6
connects-toIl 33
connects-toIl 17A
connects-toComplement C3
connects-toInsulin
connects-toAxl Receptor
connects-toMhc Class Ii
connects-toIl 2
connects-toT Cytotoxic Cell
connects-toXanthine Oxidase
connects-toIl 10
connects-toNitric Oxide
connects-toCholesterol
connects-toIl 4
connects-toIl 13
connects-toIron
connects-toLeptin
connects-toAdiponectin
connects-toResistin
connects-toVhl Disease
connects-toTuberous Sclerosis Complex
connects-toFibroblast
connects-toIfn Gamma
connects-toIl 12
connects-toType I Interferon
connects-toIl 5
connects-toIl 23
connects-toIge
connects-toT Helper Cell
connects-toMast Cell
connects-toC5Ar1
connects-toComplement C5
connects-toFactor H
connects-toTransferrin
connects-toTslp
connects-toBradykinin
connects-toErythropoietin
connects-toHistamine
connects-toMelatonin
connects-toC1 Esterase Inhibitor
connects-toTestosterone
connects-toSerotonin
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSelenium
connects-toSodium
connects-toPotassium
connects-toMagnesium
connects-toIodine
connects-toCopper
connects-toZinc
connects-toCarbon
connects-toChloride
connects-toHydrogen
connects-toPd 1
connects-toGlp 1
connects-toAngiotensin Ii
connects-toRankl
connects-toFibronectin
connects-toActivin A
connects-toCgrp
connects-toCalcitonin
connects-toSubstance P
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toBdnf
connects-toOsteopontin
connects-toFgfr
connects-toEpinephrine
Sources
- Nickerson ML, Warren MB, Toro JR, et al. 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-Dubé syndrome. Cancer Cell. 2002;2(2):157-164. · PubMed 12204536
- Tsun ZY, Bar-Peled L, Chantranupong L, et al. The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1. Mol Cell. 2013;52(4):495-505. · PubMed 24095279