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). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Mosaic Variegated Aneuploidy Syndrome 1; Mva1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Colorectal Polyposis Panel.

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 %
Comprehensive Hereditary Colorectal Cancer Panel.

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 %
CHOP Comprehensive Hereditary Cancer Panel.

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 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

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 %
OncoRisk Plus (NGS panel for 89 genes).

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 %
Mosaic Variegated Aneuploidy Syndrome via BUB1B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BUB1B
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

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 %
Hereditary Cancer Syndromes - panels.

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 %

We have 32 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UV-SENSITIVE SYNDROME 1; UVSS1 XIA-GIBBS SYNDROME SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS LONG QT SYNDROME 1; LQT1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more