KEGG   DISEASE: Mosaic variegated aneuploidy syndrome
Entry
H01288                      Disease                                

Name
Mosaic variegated aneuploidy 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, CEP57, and TRIP13 genes cause MVA.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01288  Mosaic variegated aneuploidy syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD7Y  Other specified chromosomal anomalies, excluding gene mutations
    H01288  Mosaic variegated aneuploidy syndrome
Pathway
hsa04110  Cell cycle
Gene
(MVA1) BUB1B [HSA:701] [KO:K06637]
(MVA2) CEP57 [HSA:9702] [KO:K16762]
(MVA3) TRIP13 [HSA:9319] [KO:K22399]
Other DBs
ICD-11: LD7Y
ICD-10: Q99.8
MeSH: C536987
OMIM: 257300 614114 617598
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)
DOI:10.1038/ng1449
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)
DOI:10.1038/ng.822
Reference
  Authors
Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N
  Title
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
  Journal
Nat Genet 49:1148-1151 (2017)
DOI:10.1038/ng.3883
LinkDB

» Japanese version

DBGET integrated database retrieval system