KEGG   DISEASE: Brooke-Spiegler syndrome
Entry
H00827                      Disease                                
Name
Brooke-Spiegler syndrome
Description
Brooke-Spiegler syndrome (BRSS) 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
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    Benign cutaneous neoplasms
     2F22  Benign neoplasms of epidermal appendages
      H00827  Brooke-Spiegler syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06527  Necroptosis
   H00827  Brooke-Spiegler syndrome
Pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04625  C-type lectin receptor signaling pathway
hsa04064  NF-kappa B signaling pathway
hsa04217  Necroptosis
hsa04380  Osteoclast differentiation
Network
nt06527 Necroptosis
Gene
CYLD [HSA:1540] [KO:K08601]
Other DBs
ICD-11: 2F22
MeSH: C536611
OMIM: 605041
Reference
PMID:26971504
  Authors
Kazakov DV
  Title
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.
  Journal
Head Neck Pathol 10:125-30 (2016)
DOI:10.1007/s12105-016-0705-x
Reference
PMID:19462465 (CYLD)
  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)
DOI:10.1002/humu.21024
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