KEGG   DISEASE: Familial cutaneous telangiectasia and cancer syndrome
Entry
H02576                      Disease                                
Name
Familial cutaneous telangiectasia and cancer syndrome
Description
Familial cutaneous telangiectasia and cancer syndrome (FCTCS) is an autosomal dominant disease caused by germline mutations in ATR. ATR is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H02576  Familial cutaneous telangiectasia and cancer syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06506  Double-strand break repair
   H02576  Familial cutaneous telangiectasia and cancer syndrome
  nt06508  Interstrand crosslink repair
   H02576  Familial cutaneous telangiectasia and cancer syndrome
Pathway
hsa03460  Fanconi anemia pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04218  Cellular senescence
Network
nt06506 Double-strand break repair
nt06508 Interstrand crosslink repair
Gene
ATR [HSA:545] [KO:K06640]
Other DBs
ICD-11: LD2D.Y
OMIM: 614564
Reference
PMID:22341969
  Authors
Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA
  Title
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
  Journal
Am J Hum Genet 90:511-7 (2012)
DOI:10.1016/j.ajhg.2012.01.007
LinkDB

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