KEGG   DISEASE: Familial cylindromatosis
Entry
H00828                      Disease                                
Name
Familial cylindromatosis
Description
Familial cylindromatosis (FC) is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.
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
      H00828  Familial cylindromatosis
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06527  Necroptosis
   H00828  Familial cylindromatosis
Pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04064  NF-kappa B signaling pathway
hsa04217  Necroptosis
hsa04380  Osteoclast differentiation
hsa04625  C-type lectin receptor signaling pathway
Network
nt06527 Necroptosis
Gene
CYLD [HSA:1540] [KO:K08601]
Other DBs
ICD-11: 2F22
MeSH: C536611
OMIM: 132700
Reference
PMID:7493027
  Authors
Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
  Title
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.
  Journal
Nat Genet 11:441-3 (1995)
DOI:10.1038/ng1295-441
Reference
PMID:20972631 (CYLD)
  Authors
van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC
  Title
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
  Journal
Fam Cancer 10:127-32 (2011)
DOI:10.1007/s10689-010-9393-y

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   OMIM (1)   
All databases (1)   

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