KEGG   DISEASE: Microcephaly, growth restriction, and increased sister chromatid exchange
Entry
H02492                      Disease                                
Name
Microcephaly, growth restriction, and increased sister chromatid exchange
  Subgroup
Bloom syndrome [DS:H01346]
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06506  Double-strand break repair
   H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
Pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
Network
nt06506 Double-strand break repair
Gene
(MGRISCE1) BLM [HSA:641] [KO:K10901]
(MGRISCE2) TOP3A [HSA:7156] [KO:K03165]
Other DBs
ICD-11: LD20.2
ICD-10: Q87.8
OMIM: 210900 618097
Reference
PMID:4140506
  Authors
Chaganti RS, Schonberg S, German J
  Title
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.
  Journal
Proc Natl Acad Sci U S A 71:4508-12 (1974)
DOI:10.1073/pnas.71.11.4508
Reference
PMID:23928670 (MGRISCE1)
  Authors
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
  Title
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
  Journal
J Clin Endocrinol Metab 98:3932-8 (2013)
DOI:10.1210/jc.2013-2491
Reference
PMID:30057030 (MGRISCE2)
  Authors
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
  Title
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
  Journal
Am J Hum Genet 103:221-231 (2018)
DOI:10.1016/j.ajhg.2018.07.001
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