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 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-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H01288  Mosaic variegated aneuploidy syndrome
hsa04110  Cell cycle
nt06515 Regulation of kinetochore-microtubule interactions
(MVA1) BUB1B [HSA:701] [KO:K06637]
(MVA2) CEP57 [HSA:9702] [KO:K16762]
(MVA3) TRIP13 [HSA:9319] [KO:K22399]
(MVA4) CENATAC [HSA:338657] [KO:K26160]
(MVA7) MAD1L1 [HSA:8379] [KO:K06679]
Other DBs
ICD-11: LD7Y
ICD-10: Q99.8
MeSH: C536987
OMIM: 257300 614114 617598 620153 620189
PMID:15475955 (MVA1)
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)
PMID:21552266 (MVA2)
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)
PMID:28553959 (MVA3)
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)
PMID:34009673 (MVA4)
de Wolf B, Oghabian A, Akinyi MV, Hanks S, Tromer EC, van Hooff JJE, van Voorthuijsen L, van Rooijen LE, Verbeeren J, Uijttewaal ECH, Baltissen MPA, Yost S, Piloquet P, Vermeulen M, Snel B, Isidor B, Rahman N, Frilander MJ, Kops GJPL
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
EMBO J 40:e106536 (2021)
PMID:36322655 (MVA7)
Villarroya-Beltri C, Osorio A, Torres-Ruiz R, Gomez-Sanchez D, Trakala M, Sanchez-Belmonte A, Mercadillo F, Hurtado B, Pitarch B, Hernandez-Nunez A, Gomez-Caturla A, Rueda D, Perea J, Rodriguez-Perales S, Malumbres M, Urioste M
Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.
Sci Adv 8:eabq5914 (2022)

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