Mosaic Variegated Aneuploidy Syndrome 1; Mva1
Description
Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. 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 (summary by Hanks et al., 2004).
Genes related to Mosaic Variegated Aneuploidy Syndrome 1; Mva1
- BUB1B
- CEP57
Clinical Features
Top most frequent phenotypes and symptoms related to Mosaic Variegated Aneuploidy Syndrome 1; Mva1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Growth delay
- Hypertelorism
- Nystagmus
- Neoplasm
And another 63 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Mosaic Variegated Aneuploidy Syndrome 1; Mva1 Is also known as mva syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Mosaic Variegated Aneuploidy Syndrome 1; Mva1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
BMPR1A, STK11, BUB1B, GREM1, ENG, APC, SMAD4, MUTYH, AXIN2, POLD1, POLE, PTEN
Specificity
9 %
Genes
50 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BMPR1A, STK11, BUB1B, EPCAM, TP53, CDH1, GALNT12, GREM1, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, AXIN2, PMS2, POLD1, POLE, PTEN
Specificity
5 %
Genes
50 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)
View the complete list with 85 more genes
Specificity
1 %
Genes
50 % |
![]() By CGC Genetics (Portugal).
STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)
View the complete list with 32 more genes
Specificity
2 %
Genes
50 % |
![]() By CGC Genetics (Portugal).
RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)
View the complete list with 68 more genes
Specificity
3 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
BUB1B
Specificity
100 %
Genes
50 % |
![]() By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
50 % |
![]() By MGZ Medical Genetics Center (Germany).
RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, HNF1A, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA , (...)
View the complete list with 79 more genes
Specificity
3 %
Genes
100 % |
You can get up to 32 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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