KEGG   DISEASE: Mosaic variegated aneuploidy syndrome
H01288                      Disease                                

Mosaic variegated aneuploidy syndrome
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.
Chromosomal abnormality
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
hsa04110  Cell cycle
(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
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
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nat Genet 36:1159-61 (2004)
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
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nat Genet 43:527-9 (2011)
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
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Nat Genet 49:1148-1151 (2017)

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