Details of Disease

General Information of Disease (ID: DIS5QTMU)

Disease Name Mosaic variegated aneuploidy syndrome
Synonyms Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome 1; MVA1
Definition Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DISM5BB5: Chromosomal disorder
DIS5QTMU: Mosaic variegated aneuploidy syndrome
Disease Identifiers
MONDO ID
MONDO_0000141
MESH ID
C536682
UMLS CUI
C4551972
MedGen ID
1641418
Orphanet ID
1052
SNOMED CT ID
700056005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BUB1 TT78309 Supportive Autosomal dominant [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BUB1 OT80DZMT Supportive Autosomal dominant [1]
BUB1B OT8KME51 Supportive Autosomal dominant [2]
BUB3 OTU91HAU Supportive Autosomal dominant [1]
CEP57 OTPOHLIX Supportive Autosomal dominant [3]
TRIP13 OTFM3TI9 Supportive Autosomal dominant [4]
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References

1 Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5.
2 Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet. 2004 Nov;36(11):1159-61. doi: 10.1038/ng1449. Epub 2004 Oct 10.
3 Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8.
4 Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29.