KEGG   DISEASE: H01288Help
Entry
H01288                      Disease                                

Name
Mosaic variegated aneuploidy (MVA) syndrome
Description
Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B and CEP57 genes cause MVA.
Category
Developmental disorder
BRITE hierarchy
Pathway
Cell cycle
Gene
BUB1B [HSA:701] [KO:K06637]
CEP57 [HSA:9702] [KO:K16762]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N
  Title
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
  Journal
Nat Genet 36:1159-61 (2004)
Reference
  Authors
Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N
  Title
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
  Journal
Nat Genet 43:527-9 (2011)

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