MCID: MSC109
MIFTS: 39

Mosaic Variegated Aneuploidy Syndrome 1

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 1

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome 1:

Name: Mosaic Variegated Aneuploidy Syndrome 1 57 12 75 29 13 6
Mva Syndrome 57 75
Mva1 57 75
Mosaic Variegated Aneuploidy Syndrome, Type 1 40
Mosaic Variegated Aneuploidy Syndrome 73
Congenital Chromosomal Disease 73
Chromosome Disorders 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, )


HPO:

32
mosaic variegated aneuploidy syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 1

OMIM : 57 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). (257300)

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 1, also known as mva syndrome, is related to mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 2, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome 1 is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B). The drugs Vaccines and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 Mosaic variegated aneuploidy syndrome 1: A severe developmental 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.

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 1

Diseases in the Mosaic Variegated Aneuploidy Syndrome family:

Mosaic Variegated Aneuploidy Syndrome 1 Mosaic Variegated Aneuploidy Syndrome 2
Mosaic Variegated Aneuploidy Syndrome 3

Diseases related to Mosaic Variegated Aneuploidy Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 30.0 BUB1B BUB1B-PAK6 LOC107984763
2 mosaic variegated aneuploidy syndrome 2 10.9
3 mosaic variegated aneuploidy syndrome 3 10.9
4 chromosomal disease 10.7
5 48, xxxx 10.7
6 jacobsen syndrome 10.5
7 emanuel syndrome 10.5
8 diploid-triploid mosaicism 10.5
9 tetrasomy x 10.5
10 trisomy 22 10.5
11 cri-du-chat syndrome 10.3
12 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3
13 chromosome 18p deletion syndrome 10.3
14 chromosome 9p deletion syndrome 10.3
15 down syndrome 10.3
16 phelan-mcdermid syndrome 10.3
17 chromosome 1p36 deletion syndrome 10.3
18 chromosome 3q29 deletion syndrome 10.3
19 chromosome 16p13.3 deletion syndrome, proximal 10.3
20 chromosome 13q14 deletion syndrome 10.3
21 ring chromosome 14 syndrome 10.3
22 selective igm deficiency disease 10.3
23 oligomeganephronia 10.3
24 patau syndrome 10.3
25 turner syndrome 10.3
26 mbd5 haploinsufficiency 10.3
27 15q13.3 microduplication syndrome 10.3
28 16q24.3 microdeletion syndrome 10.3
29 chromosome 10p deletion 10.3
30 chromosome 10p duplication 10.3
31 chromosome 10q duplication 10.3
32 chromosome 13q duplication 10.3
33 chromosome 14q deletion 10.3
34 chromosome 16q deletion 10.3
35 chromosome 17q deletion 10.3
36 chromosome 18p tetrasomy 10.3
37 chromosome 19p deletion 10.3
38 chromosome 20p deletion 10.3
39 chromosome 22q duplication 10.3
40 chromosome 9p duplication 10.3
41 chromosome 9q deletion 10.3
42 chromosome 9q duplication 10.3
43 distal chromosome 18q deletion syndrome 10.3
44 mosaic trisomy 14 10.3
45 mosaic trisomy 22 10.3
46 proximal chromosome 18q deletion syndrome 10.3
47 tetrasomy 9p 10.3
48 tracheoesophageal fistula 10.3
49 trisomy 2 mosaicism 10.3
50 distal trisomy 10q 10.3

Graphical network of the top 20 diseases related to Mosaic Variegated Aneuploidy Syndrome 1:



Diseases related to Mosaic Variegated Aneuploidy Syndrome 1

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
epicanthal folds
cataracts
upslanting palpebral fissures

Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
anteverted nares
short, wide nose

Head And Neck Head:
brachycephaly
microcephaly, severe

Head And Neck Face:
long philtrum
micrognathia
high forehead
midface hypoplasia

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
micropenis

Genitourinary:
ambiguous genitalia

Genitourinary Kidneys:
renal cysts
wilms tumor

Growth Other:
growth retardation, prenatal and postnatal

Prenatal Manifestations Delivery:
premature labor

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
dandy-walker malformation
enlarged ventricles
agenesis of the corpus callosum
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
triangular shaped mouth

Abdomen Gastrointestinal:
feeding difficulties

Chest Ribs Sternum Clavicles And Scapulae:
short sternum

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Neoplasia:
nephroblastoma
rhabdomyosarcoma
leukemia
wilms tumor
propensity to tumor development

Growth Weight:
low birth weight
low postnatal weight

Immunology:
combined immunodeficiency (reported in 1 patient)

Laboratory Abnormalities:
mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy
more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes
anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies


Clinical features from OMIM:

257300

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1:

32 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 agenesis of corpus callosum 32 HP:0001274
6 hydrocephalus 32 HP:0000238
7 nystagmus 32 HP:0000639
8 cataract 32 HP:0000518
9 depressed nasal bridge 32 HP:0005280
10 short nose 32 HP:0003196
11 microcephaly 32 HP:0000252
12 anteverted nares 32 HP:0000463
13 short stature 32 HP:0004322
14 feeding difficulties in infancy 32 HP:0008872
15 brachycephaly 32 HP:0000248
16 cleft palate 32 HP:0000175
17 long philtrum 32 HP:0000343
18 micrognathia 32 HP:0000347
19 generalized myoclonic seizures 32 HP:0002123
20 epicanthus 32 HP:0000286
21 severe global developmental delay 32 HP:0011344
22 cryptorchidism 32 HP:0000028
23 short sternum 32 HP:0000879
24 intrauterine growth retardation 32 HP:0001511
25 postnatal growth retardation 32 HP:0008897
26 generalized tonic-clonic seizures 32 HP:0002069
27 ventriculomegaly 32 HP:0002119
28 cerebellar hypoplasia 32 HP:0001321
29 hypospadias 32 HP:0000047
30 upslanted palpebral fissure 32 HP:0000582
31 intellectual disability, profound 32 HP:0002187
32 high forehead 32 HP:0000348
33 midface retrusion 32 HP:0011800
34 oligohydramnios 32 HP:0001562
35 ambiguous genitalia 32 HP:0000062
36 bifid scrotum 32 HP:0000048
37 wide nose 32 HP:0000445
38 dandy-walker malformation 32 HP:0001305
39 nephroblastoma 32 HP:0002667
40 rhabdomyosarcoma 32 HP:0002859
41 micropenis 32 HP:0000054
42 renal cyst 32 HP:0000107
43 generalized hypotonia 32 HP:0001290
44 posteriorly rotated ears 32 HP:0000358
45 small for gestational age 32 HP:0001518
46 leukemia 32 HP:0001909
47 triangular mouth 32 HP:0000207
48 cerebral hypoplasia 32 HP:0006872
49 hypodysplasia of the corpus callosum 32 HP:0006849
50 premature chromatid separation 32 HP:0200024

UMLS symptoms related to Mosaic Variegated Aneuploidy Syndrome 1:


myoclonic seizures

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 1

Drugs for Mosaic Variegated Aneuploidy Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Study With MVA BN and Dryvax Completed NCT00082446 Phase 1
2 Role of Cytochrome P450 2D6 (CYP2D6) *4 Polymorphism,in Malignant Breast Diseases Completed NCT00539422

Search NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome 1

Cochrane evidence based reviews: chromosome disorders

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 1

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 1:

# Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 1 29 BUB1B

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 1

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome 1:

41
Eye

Publications for Mosaic Variegated Aneuploidy Syndrome 1

Articles related to Mosaic Variegated Aneuploidy Syndrome 1:

# Title Authors Year
1
PCS/MVA syndrome caused by an <i>Alu</i> insertion in the <i>BUB1B</i> gene. ( 28611924 )
2017
2
Ciliopathy in PCS (MVA) syndrome. ( 26309087 )
2015
3
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome. ( 24344301 )
2014

Variations for Mosaic Variegated Aneuploidy Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 BUB1B p.Arg550Gln VAR_028923 rs28989187
2 BUB1B p.Arg814His VAR_028924 rs28989182
3 BUB1B p.Leu844Phe VAR_028925 rs28989181
4 BUB1B p.Ile909Thr VAR_028926 rs28989184
5 BUB1B p.Gln921His VAR_028927 rs28989183
6 BUB1B p.Leu1012Pro VAR_028928 rs28989185

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

6
(show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh37 Chromosome 15, 40468873: 40468873
2 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh38 Chromosome 15, 40176672: 40176672
3 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh37 Chromosome 15, 40504844: 40504844
4 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh38 Chromosome 15, 40212643: 40212643
5 BUB1B BUB1B, 4-BP INS, 2211GTTA insertion Pathogenic
6 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh37 Chromosome 15, 40512842: 40512842
7 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh38 Chromosome 15, 40220641: 40220641
8 BUB1B BUB1B, IVS10, G-T, -1 single nucleotide variant Pathogenic
9 BUB1B BUB1B, 1-BP DEL, 1833T deletion Pathogenic
10 BUB1B BUB1B, IVS10AS, A-G, -5 single nucleotide variant Pathogenic
11 BUB1B BUB1B, IVS18AS, A-G, -11 single nucleotide variant Pathogenic
12 BUB1B NM_001211.5(BUB1B): c.2405C> T (p.Pro802Leu) single nucleotide variant Uncertain significance rs878854277 GRCh38 Chromosome 15, 40212518: 40212518
13 BUB1B NM_001211.5(BUB1B): c.2405C> T (p.Pro802Leu) single nucleotide variant Uncertain significance rs878854277 GRCh37 Chromosome 15, 40504719: 40504719
14 BUB1B NM_001211.5(BUB1B): c.2729T> A (p.Val910Glu) single nucleotide variant Uncertain significance rs747000103 GRCh38 Chromosome 15, 40217546: 40217546
15 BUB1B NM_001211.5(BUB1B): c.1371A> G (p.Gln457=) single nucleotide variant Likely benign rs141013408 GRCh37 Chromosome 15, 40491898: 40491898
16 BUB1B NM_001211.5(BUB1B): c.1371A> G (p.Gln457=) single nucleotide variant Likely benign rs141013408 GRCh38 Chromosome 15, 40199697: 40199697
17 BUB1B NM_001211.5(BUB1B): c.2729T> A (p.Val910Glu) single nucleotide variant Uncertain significance rs747000103 GRCh37 Chromosome 15, 40509747: 40509747
18 BUB1B NM_001211.5(BUB1B): c.1079C> G (p.Pro360Arg) single nucleotide variant Uncertain significance rs1060499942 GRCh37 Chromosome 15, 40488766: 40488766
19 BUB1B NM_001211.5(BUB1B): c.1079C> G (p.Pro360Arg) single nucleotide variant Uncertain significance rs1060499942 GRCh38 Chromosome 15, 40196565: 40196565
20 BUB1B NM_001211.5(BUB1B): c.1171_1173delGAG (p.Glu391del) deletion Uncertain significance rs1060499943 GRCh37 Chromosome 15, 40488858: 40488860
21 BUB1B NM_001211.5(BUB1B): c.1171_1173delGAG (p.Glu391del) deletion Uncertain significance rs1060499943 GRCh38 Chromosome 15, 40196657: 40196659
22 BUB1B NM_001211.5(BUB1B): c.1620_1622delGAA (p.Lys540del) deletion Uncertain significance rs587778141 GRCh37 Chromosome 15, 40494658: 40494660
23 BUB1B NM_001211.5(BUB1B): c.1620_1622delGAA (p.Lys540del) deletion Uncertain significance rs587778141 GRCh38 Chromosome 15, 40202457: 40202459
24 BUB1B NM_001211.5(BUB1B): c.2785G> A (p.Gly929Ser) single nucleotide variant Uncertain significance rs143232848 GRCh37 Chromosome 15, 40509803: 40509803
25 BUB1B NM_001211.5(BUB1B): c.2785G> A (p.Gly929Ser) single nucleotide variant Uncertain significance rs143232848 GRCh38 Chromosome 15, 40217602: 40217602
26 BUB1B NM_001211.5(BUB1B): c.2979G> T (p.Trp993Cys) single nucleotide variant Uncertain significance rs1060499945 GRCh37 Chromosome 15, 40512786: 40512786
27 BUB1B NM_001211.5(BUB1B): c.2979G> T (p.Trp993Cys) single nucleotide variant Uncertain significance rs1060499945 GRCh38 Chromosome 15, 40220585: 40220585
28 BUB1B NM_001211.5(BUB1B): c.1920G> A (p.Pro640=) single nucleotide variant Benign rs755507111 GRCh38 Chromosome 15, 40206369: 40206369
29 BUB1B NM_001211.5(BUB1B): c.1920G> A (p.Pro640=) single nucleotide variant Benign rs755507111 GRCh37 Chromosome 15, 40498570: 40498570
30 BUB1B NM_001211.5(BUB1B): c.2414T> C (p.Phe805Ser) single nucleotide variant Uncertain significance rs1060499948 GRCh38 Chromosome 15, 40212527: 40212527
31 BUB1B NM_001211.5(BUB1B): c.2414T> C (p.Phe805Ser) single nucleotide variant Uncertain significance rs1060499948 GRCh37 Chromosome 15, 40504728: 40504728
32 BUB1B NM_001211.5(BUB1B): c.440T> C (p.Ile147Thr) single nucleotide variant Uncertain significance rs763623522 GRCh38 Chromosome 15, 40176532: 40176532
33 BUB1B NM_001211.5(BUB1B): c.440T> C (p.Ile147Thr) single nucleotide variant Uncertain significance rs763623522 GRCh37 Chromosome 15, 40468733: 40468733
34 BUB1B NM_001211.5(BUB1B): c.751+9G> A single nucleotide variant Likely benign rs372133651 GRCh38 Chromosome 15, 40183892: 40183892
35 BUB1B NM_001211.5(BUB1B): c.751+9G> A single nucleotide variant Likely benign rs372133651 GRCh37 Chromosome 15, 40476093: 40476093
36 BUB1B NM_001211.5(BUB1B): c.1127_1128delGAinsTT (p.Gly376Val) indel Uncertain significance rs386783327 GRCh38 Chromosome 15, 40196613: 40196614
37 BUB1B NM_001211.5(BUB1B): c.1127_1128delGAinsTT (p.Gly376Val) indel Uncertain significance rs386783327 GRCh37 Chromosome 15, 40488814: 40488815
38 BUB1B NM_001211.5(BUB1B): c.1539C> T (p.Asn513=) single nucleotide variant Likely benign rs140534961 GRCh38 Chromosome 15, 40200952: 40200952
39 BUB1B NM_001211.5(BUB1B): c.1539C> T (p.Asn513=) single nucleotide variant Likely benign rs140534961 GRCh37 Chromosome 15, 40493153: 40493153
40 BUB1B NM_001211.5(BUB1B): c.2667T> C (p.Ile889=) single nucleotide variant Likely benign rs901161308 GRCh38 Chromosome 15, 40213463: 40213463
41 BUB1B NM_001211.5(BUB1B): c.2667T> C (p.Ile889=) single nucleotide variant Likely benign rs901161308 GRCh37 Chromosome 15, 40505664: 40505664
42 BUB1B NM_001211.5(BUB1B): c.2801A> G (p.Gln934Arg) single nucleotide variant Uncertain significance rs781299320 GRCh38 Chromosome 15, 40217618: 40217618
43 BUB1B NM_001211.5(BUB1B): c.2801A> G (p.Gln934Arg) single nucleotide variant Uncertain significance rs781299320 GRCh37 Chromosome 15, 40509819: 40509819
44 BUB1B NM_001211.5(BUB1B): c.273A> T (p.Gln91His) single nucleotide variant Uncertain significance rs751056896 GRCh38 Chromosome 15, 40170570: 40170570
45 BUB1B NM_001211.5(BUB1B): c.273A> T (p.Gln91His) single nucleotide variant Uncertain significance rs751056896 GRCh37 Chromosome 15, 40462771: 40462771
46 BUB1B NM_001211.5(BUB1B): c.605G> A (p.Arg202Gln) single nucleotide variant Uncertain significance rs768417752 GRCh38 Chromosome 15, 40183737: 40183737
47 BUB1B NM_001211.5(BUB1B): c.605G> A (p.Arg202Gln) single nucleotide variant Uncertain significance rs768417752 GRCh37 Chromosome 15, 40475938: 40475938
48 BUB1B NM_001211.5(BUB1B): c.1442A> C (p.Gln481Pro) single nucleotide variant Uncertain significance rs1060499944 GRCh38 Chromosome 15, 40200284: 40200284
49 BUB1B NM_001211.5(BUB1B): c.1442A> C (p.Gln481Pro) single nucleotide variant Uncertain significance rs1060499944 GRCh37 Chromosome 15, 40492485: 40492485
50 BUB1B NM_001211.5(BUB1B): c.1453G> A (p.Glu485Lys) single nucleotide variant Uncertain significance rs770704003 GRCh38 Chromosome 15, 40200295: 40200295

Expression for Mosaic Variegated Aneuploidy Syndrome 1

Search GEO for disease gene expression data for Mosaic Variegated Aneuploidy Syndrome 1.

Pathways for Mosaic Variegated Aneuploidy Syndrome 1

GO Terms for Mosaic Variegated Aneuploidy Syndrome 1

Biological processes related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.16 BUB1B BUB1B-PAK6
2 protein phosphorylation GO:0006468 8.96 BUB1B BUB1B-PAK6
3 mitotic spindle assembly checkpoint GO:0007094 8.62 BUB1B BUB1B-PAK6

Molecular functions related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.16 BUB1B BUB1B-PAK6
2 protein kinase activity GO:0004672 8.96 BUB1B BUB1B-PAK6
3 protein serine/threonine kinase activity GO:0004674 8.62 BUB1B BUB1B-PAK6

Sources for Mosaic Variegated Aneuploidy Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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