MCID: MSC139
MIFTS: 14

Mosaic Variegated Aneuploidy Syndrome 3

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 3

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome 3:

Name: Mosaic Variegated Aneuploidy Syndrome 3 57 75 6
Mva3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of wilms tumor in early childhood
highly variable phenotype other than wilms tumor


Classifications:



External Ids:

OMIM 57 617598
MeSH 44 D025063

Summaries for Mosaic Variegated Aneuploidy Syndrome 3

UniProtKB/Swiss-Prot : 75 Mosaic variegated aneuploidy syndrome 3: A form of mosaic variegated aneuploidy syndrome, a severe 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. MVA3 inheritance is autosomal recessive.

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 3, is also known as mva3. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 3 is TRIP13 (Thyroid Hormone Receptor Interactor 13). Affiliated tissues include eye.

OMIM : 57 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 (257300). (617598)

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 3

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
developmental delay (in some patients)
seizures (in some patients)

Laboratory Abnormalities:
aneuploidy
premature chromatid separation
chromosome instability

Growth Other:
growth retardation

Skin Nails Hair Skin:
pigmentary abnormalities

Neoplasia:
wilms tumor


Clinical features from OMIM:

617598

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 3

Search Clinical Trials , NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome 3

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 3

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 3

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome 3:

41
Eye

Publications for Mosaic Variegated Aneuploidy Syndrome 3

Variations for Mosaic Variegated Aneuploidy Syndrome 3

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP13 NM_004237.3(TRIP13): c.1060C> T (p.Arg354Ter) single nucleotide variant Pathogenic rs376882637 GRCh38 Chromosome 5, 914504: 914504
2 TRIP13 NM_004237.3(TRIP13): c.1060C> T (p.Arg354Ter) single nucleotide variant Pathogenic rs376882637 GRCh37 Chromosome 5, 914619: 914619
3 TRIP13 NM_004237.3(TRIP13): c.673-1G> C single nucleotide variant Pathogenic rs1131692330 GRCh37 Chromosome 5, 908102: 908102
4 TRIP13 NM_004237.3(TRIP13): c.673-1G> C single nucleotide variant Pathogenic rs1131692330 GRCh38 Chromosome 5, 907987: 907987

Expression for Mosaic Variegated Aneuploidy Syndrome 3

Search GEO for disease gene expression data for Mosaic Variegated Aneuploidy Syndrome 3.

Pathways for Mosaic Variegated Aneuploidy Syndrome 3

GO Terms for Mosaic Variegated Aneuploidy Syndrome 3

Sources for Mosaic Variegated Aneuploidy Syndrome 3

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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