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mosaic variegated aneuploidy syndrome 1
Disease Summary
Associated Targets (4)
Tbio
3
Tchem
1
Mondo Description Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.
Uniprot Description A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080141
OMIM:257300
UMLS:CN031748
MONDO:0009759
High level summary of knowledge for a disease, including descriptions and datasource references.