Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725] Ataxia with ocular apraxia [DS:H00848] Spinocerebellar degeneration [DS:H01616]
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.
Human diseases [BR:br08402]
Immune system diseases
Primary immunodeficiency
H00064 Ataxia telangiectasia
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
Related pathway
hsa03440
Homologous recombination
hsa04064
NF-kappa B signaling pathway
hsa04110
Cell cycle
hsa04218
Cellular senescence
Network
nt06506 Double-strand break repair
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
PMID:17889645
Authors
Rass U, Ahel I, West SC.
Title
Defective DNA repair and neurodegenerative disease.