KEGG   DISEASE: Birt-Hogg-Dube syndrome
Entry
H00818                      Disease                                
Name
Birt-Hogg-Dube syndrome
Description
Birt-Hogg-Dube syndrome is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with multiple white papules in the midface. The disease is caused by mutations in the FLCN gene coding for folliculin.
Category
Other disease
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H00818  Birt-Hogg-Dube syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00818  Birt-Hogg-Dube syndrome
Related
pathway
hsa04150  mTOR signaling pathway
Gene
FLCN [HSA:201163] [KO:K09594]
Other DBs
ICD-11: LD27.5
MeSH: D058249
OMIM: 135150
Reference
  Authors
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjold M, Hansen TV, Solly J, Maher ER
  Title
Birt-Hogg-Dube syndrome: diagnosis and management.
  Journal
Lancet Oncol 10:1199-206 (2009)
DOI:10.1016/S1470-2045(09)70188-3
Reference
  Authors
Maher ER
  Title
Genetics of familial renal cancers.
  Journal
Nephron Exp Nephrol 118:e21-6 (2011)
DOI:10.1159/000320892
Reference
  Authors
Morrison PJ, Donnelly DE, Atkinson AB, Maxwell AP
  Title
Advances in the genetics of familial renal cancer.
  Journal
Oncologist 15:532-8 (2010)
DOI:10.1634/theoncologist.2010-0023
LinkDB

» Japanese version

DBGET integrated database retrieval system