KEGG   DISEASE: Ataxia-telangiectasia-like syndrome
Entry
H02014                      Disease                                

Name
Ataxia-telangiectasia-like syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
Description
Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as a double-strand break sensor and recruits ATM to broken DNA molecules. The clinical features include the progressive cerebellar ataxia, and they are very similar to those of Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H02014  Ataxia-telangiectasia-like 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
    H02014  Ataxia-telangiectasia-like syndrome
Pathway
hsa03410  Base excision repair
hsa03420  Nucleotide excision repair
hsa03440  Homologous recombination
Gene
(ATLD1) MRE11A [HSA:4361] [KO:K10865]
(ATLD2) PCNA [HSA:5111] [KO:K04802]
Other DBs
ICD-11: 4A01.31
ICD-10: G11.3
MeSH: C565779
OMIM: 604391 615919
Reference
  Authors
Taylor AM, Groom A, Byrd PJ
  Title
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
  Journal
DNA Repair (Amst) 3:1219-25 (2004)
DOI:10.1016/j.dnarep.2004.04.009
Reference
  Authors
Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM
  Title
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
  Journal
Cell 99:577-87 (1999)
DOI:10.1016/S0092-8674(00)81547-0
Reference
  Authors
Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L
  Title
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
  Journal
Hum Mol Genet 13:2155-63 (2004)
DOI:10.1093/hmg/ddh221
Reference
  Authors
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH
  Title
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
  Journal
J Clin Invest 124:3137-46 (2014)
DOI:10.1172/JCI74593
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