KEGG   DISEASE: 小頭症・発育不全および姉妹染色分体交換の増加
エントリ  
H02492                                                             
名称    
小頭症・発育不全および姉妹染色分体交換の増加
  下位グループ
ブルーム症候群 [DS:H01346]
概要    
Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges on cytogenetic testing. MGRISCE1, caused by biallelic mutations in BLM, is known as Bloom syndrome [DS:H01346]. Recently, MGRISCE2, caused by mutations in TOP3A, has been reported. TOP3A encodes topoisomerase III alpha, which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02492  小頭症・発育不全および姉妹染色分体交換の増加
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06506  二本鎖切断修復
   H02492  小頭症・発育不全および姉妹染色分体交換の増加
パスウェイ 
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
ネットワーク
nt06506 Double-strand break repair
病因遺伝子 
(MGRISCE1) BLM [HSA:641] [KO:K10901]
(MGRISCE2) TOP3A [HSA:7156] [KO:K03165]
リンク   
ICD-11: LD20.2
OMIM: 210900 618097
文献    
PMID:4140506
  著者
Chaganti RS, Schonberg S, German J
  タイトル
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.
  雑誌
Proc Natl Acad Sci U S A 71:4508-12 (1974)
DOI:10.1073/pnas.71.11.4508
文献    
PMID:23928670 (MGRISCE1)
  著者
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
  タイトル
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
  雑誌
J Clin Endocrinol Metab 98:3932-8 (2013)
DOI:10.1210/jc.2013-2491
文献    
PMID:30057030 (MGRISCE2)
  著者
Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
  タイトル
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
  雑誌
Am J Hum Genet 103:221-231 (2018)
DOI:10.1016/j.ajhg.2018.07.001
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