Mosaic variegated aneuploidy syndrome 1

Preferred Label : Mosaic variegated aneuploidy syndrome 1;

Symbol : MVA1;

CISMeF acronym : MVA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mva syndrome;

Description : Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues (Hanks et al., 2004). The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. 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. See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BUB1 mitotic checkpoint serine/threonine kinase B gene (BUB1B, 602860.0003);

Neoplasia : Propensity to tumor development; Wilms tumor; Nephroblastoma; Rhabdomyosarcoma; Leukemia;

Laboratory abnormalities : Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy; More than 50% of mitotic cells show premature chromatid separation (PCS) affecting all chromosomes; Anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies;

Prefixed ID : #257300;

Details

Origin ID

257300;

UMLS CUI

C1850343;

Currated CISMeF NLP mapping
- Mosaic Variegated Aneuploidy Syndrome 1 [NCIt concept]
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
- Mosaic variegated aneuploidy syndrome [MeSH concept]
- Mosaic variegated aneuploidy syndrome (disorder) [SNOMED CT concept]
- mosaic variegated aneuploidy syndrome [MeSH Supplementary Concept]
- mosaic variegated aneuploidy syndrome 1 [DO Concept]
DO Cross reference
- mosaic variegated aneuploidy syndrome 1 [DO Concept]
Genes related to phenotype
- Bub1 mitotic checkpoint serine/threonine kinase b [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Ambiguous genitalia [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral hypoplasia [HPO term]
- Cleft palate [HPO term]
- Combined immunodeficiency [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Growth retardation, prenatal and postnatal [HPO term]
- High forehead [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypodysplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, profound [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukemia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Nephroblastoma [HPO term]
- Nystagmus [HPO term]
- Oligohydramnios [HPO term]
- Posterior fossa malformations [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Premature chromatid separation [HPO term]
- Renal cyst [HPO term]
- Rhabdomyosarcoma [HPO term]
- Severe global developmental delay [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short sternum [HPO term]
- Small for gestational age [HPO term]
- Triangular mouth [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
See also inter- (CISMeF)
- BUB1B wt Allele [NCIt concept]
- warburton anyane yeboa syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mosaic Variegated Aneuploidy Syndrome 1 [NCIt concept]
- Mosaic variegated aneuploidy syndrome [MeSH concept]
- mosaic variegated aneuploidy syndrome [MeSH Supplementary Concept]
- mosaic variegated aneuploidy syndrome 1 [DO Concept]

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