Details of Disease

General Information of Disease (ID: DIS3IPQ6)

Disease Name Mosaic variegated aneuploidy syndrome 2
Synonyms
MVA2; MOSAIC variegated aneuploidy syndrome 2; mosaic variegated aneuploidy syndrome caused by mutation in CEP57; mosaic variegated aneuploidy syndrome type 2; mosaic variegated aneuploidy syndrome 2; CEP57 mosaic variegated aneuploidy syndrome; Mosaic variegated aneuploidy syndrome type 2
Definition Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.
Disease Hierarchy
DIS5QTMU: Mosaic variegated aneuploidy syndrome
DIS3IPQ6: Mosaic variegated aneuploidy syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013582
UMLS CUI
C3279843
OMIM ID
614114
MedGen ID
481473

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP57 OTPOHLIX Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.