KEGG   DISEASE: H00827Help
Entry
H00827                      Disease                                

Name
Brooke-Spiegler syndrome
Description
Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
RIG-I-like receptor signaling pathway
Gene
CYLD1 [HSA:1540] [KO:K08601]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:19462465 (description, gene)
  Authors
Blake PW, Toro JR
  Title
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
  Journal
Hum Mutat 30:1025-36 (2009)
Reference
PMID:15854031 (description, gene)
  Authors
Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
  Title
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
  Journal
J Invest Dermatol 124:919-20 (2005)
Reference
PMID:14632188 (description, gene)
  Authors
Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gurer MA, Celebi JT
  Title
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
  Journal
J Invest Dermatol 121:732-4 (2003)

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