MVA3
MCID: MSC139
MIFTS: 20

Mosaic Variegated Aneuploidy Syndrome 3 (MVA3)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 12 72 29 6
Mva3 57 72
Mosaic Variegated Aneuploidy Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mosaic variegated aneuploidy syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080689
OMIM® 57 617598
OMIM Phenotypic Series 57 PS257300
MeSH 44 D025063

Summaries for Mosaic Variegated Aneuploidy Syndrome 3

UniProtKB/Swiss-Prot : 72 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, and related phenotypes are global developmental delay and microcephaly

Disease Ontology : 12 A mosaic variegated aneuploidy syndrome that has material basis in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.

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) (Updated 05-Apr-2021)

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 3

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 3

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 seizure 31 very rare (1%) HP:0001250
4 short stature 31 HP:0004322
5 nephroblastoma 31 HP:0002667
6 premature chromatid separation 31 HP:0200024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Growth Other:
growth retardation

Neoplasia:
wilms tumor

Skin Nails Hair Skin:
pigmentary abnormalities

Laboratory Abnormalities:
premature chromatid separation
chromosome instability
aneuploidy

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

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

617598 (Updated 05-Apr-2021)

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

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 3:

# Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 3 29 TRIP13

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 3

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

40
Eye

Publications for Mosaic Variegated Aneuploidy Syndrome 3

Articles related to Mosaic Variegated Aneuploidy Syndrome 3:

# Title Authors PMID Year
1
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 57 6
28553959 2017

Variations for Mosaic Variegated Aneuploidy Syndrome 3

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP13 NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter) SNV Pathogenic 431045 rs376882637 GRCh37: 5:914619-914619
GRCh38: 5:914504-914504
2 TRIP13 NM_004237.4(TRIP13):c.673-1G>C SNV Pathogenic 431046 rs1131692330 GRCh37: 5:908102-908102
GRCh38: 5:907987-907987
3 TRIP13 NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn) SNV Uncertain significance 1031392 GRCh37: 5:908142-908142
GRCh38: 5:908027-908027

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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