KEGG   DISEASE: Ataxia telangiectasiaHelp
Entry
H00064                      Disease                                

Name
Ataxia telangiectasia;
Louis-Bar syndrome;
Boder-Sedgwick syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
Ataxia with ocular apraxia [DS:H00848]
Description
Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.
Category
Neurodegenerative disease; Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00064  Ataxia telangiectasia
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
    H00064  Ataxia telangiectasia
BRITE hierarchy
Pathway
hsa03440  Homologous recombination
hsa04110  Cell cycle
hsa04218  Cellular senescence
Gene
(AT) ATM [HSA:472] [KO:K04728]
Comment
Affected region: cerebellum
Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells
Other DBs
ICD-11: 4A01.31
ICD-10: G11.3
MeSH: D001260
OMIM: 208900
Reference
  Authors
Rass U, Ahel I, West SC.
  Title
Defective DNA repair and neurodegenerative disease.
  Journal
Cell 130:991-1004 (2007)
DOI:10.1016/j.cell.2007.08.043
Reference
  Authors
Ristow M.
  Title
Neurodegenerative disorders associated with diabetes mellitus.
  Journal
J Mol Med 82:510-29 (2004)
DOI:10.1007/s00109-004-0552-1

» Japanese version

DBGET integrated database retrieval system