KEGG   DISEASE: Bloom syndrome
Entry
H01346                      Disease                                

Name
Bloom syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
Defects in RecQ helicases [DS:H00296]
Description
Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by dwarfism, photosensitivity, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01346  Bloom syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01346  Bloom syndrome
Pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
Gene
BLM [HSA:641] [KO:K10901]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: 4A01.31
ICD-10: Q82.8
MeSH: D001816
OMIM: 210900
Reference
  Authors
Manthei KA, Keck JL
  Title
The BLM dissolvasome in DNA replication and repair.
  Journal
Cell Mol Life Sci 70:4067-84 (2013)
DOI:10.1007/s00018-013-1325-1
Reference
  Authors
Tikoo S, Sengupta S
  Title
Time to bloom.
  Journal
Genome Integr 1:14 (2010)
DOI:10.1186/2041-9414-1-14
Reference
  Authors
Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K
  Title
Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
  Journal
J Biol Chem 284:26360-7 (2009)
DOI:10.1074/jbc.M109.029348
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