Mosaic Variegated Aneuploidy Syndrome 3; Mva3

Description

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mosaic Variegated Aneuploidy Syndrome 3; Mva3

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Neoplasm
  • Abnormality of the nervous system
  • Leukemia
  • Severe global developmental delay

And another 5 symptoms. If you need more information about this disease we can help you.

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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.

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 3; Mva3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1 , (...)

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Specificity
2 %
Genes
100 %
TRIP13.

By Fulgent Genetics Fulgent Genetics (United States).

TRIP13
Specificity
100 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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