MCID: MSC109
MIFTS: 34

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 53 12 71 28 13
Congenital Chromosomal Disease 69 28
Mva Syndrome 53 71
Mva1 53 71
Mosaic Variegated Aneuploidy Syndrome 69
Chromosome Disorders 41

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
mosaic variegated aneuploidy syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 1

OMIM : 53 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 congenital chromosomal disease, is related to mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 2, and has symptoms including malar flattening, hypertelorism and low-set ears. 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.

UniProtKB/Swiss-Prot : 71 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 61)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 11.8
2 mosaic variegated aneuploidy syndrome 2 10.9
3 mosaic variegated aneuploidy syndrome 3 10.9
4 chromosomal disease 10.7
5 jacobsen syndrome 10.5
6 emanuel syndrome 10.5
7 diploid-triploid mosaicism 10.5
8 trisomy 22 10.5
9 cri-du-chat syndrome 10.3
10 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3
11 chromosome 18p deletion syndrome 10.3
12 down syndrome 10.3
13 chromosome 1p36 deletion syndrome 10.3
14 chromosome 3q29 deletion syndrome 10.3
15 chromosome 16p13.3 deletion syndrome, proximal 10.3
16 chromosome 13q14 deletion syndrome 10.3
17 selective igm deficiency disease 10.3
18 patau syndrome 10.3
19 turner syndrome 10.3
20 mbd5 haploinsufficiency 10.3
21 16q24.3 microdeletion syndrome 10.3
22 chromosome 10p deletion 10.3
23 chromosome 13q duplication 10.3
24 chromosome 14q deletion 10.3
25 chromosome 16q deletion 10.3
26 chromosome 17q deletion 10.3
27 chromosome 18p tetrasomy 10.3
28 chromosome 19p deletion 10.3
29 chromosome 22q duplication 10.3
30 chromosome 9p duplication 10.3
31 chromosome 9q deletion 10.3
32 chromosome 9q duplication 10.3
33 distal chromosome 18q deletion syndrome 10.3
34 mosaic trisomy 14 10.3
35 mosaic trisomy 22 10.3
36 oligomeganephronic renal hypoplasia 10.3
37 proximal chromosome 18q deletion syndrome 10.3
38 tetrasomy 9p 10.3
39 tetrasomy x 10.3
40 tracheoesophageal fistula 10.3
41 trisomy 2 mosaicism 10.3
42 distal trisomy 10q 10.3
43 ciliopathy 9.7
44 neural tube defects 9.5
45 neural tube defects, folate-sensitive 9.5
46 angelman syndrome 9.4
47 prader-willi syndrome 9.4
48 wolf-hirschhorn syndrome 9.4
49 pelizaeus-merzbacher disease 9.4
50 alpha-fetoprotein deficiency 9.4

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:

53
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

Genitourinary Internal Genitalia Male:
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 Gastroin testinal:
feeding difficulties

Chest RibsSternum 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:

31 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 short neck 31 HP:0000470
5 agenesis of corpus callosum 31 HP:0001274
6 hydrocephalus 31 HP:0000238
7 nystagmus 31 HP:0000639
8 cataract 31 HP:0000518
9 depressed nasal bridge 31 HP:0005280
10 short nose 31 HP:0003196
11 microcephaly 31 HP:0000252
12 anteverted nares 31 HP:0000463
13 short stature 31 HP:0004322
14 feeding difficulties in infancy 31 HP:0008872
15 brachycephaly 31 HP:0000248
16 cleft palate 31 HP:0000175
17 long philtrum 31 HP:0000343
18 micrognathia 31 HP:0000347
19 generalized myoclonic seizures 31 HP:0002123
20 epicanthus 31 HP:0000286
21 severe global developmental delay 31 HP:0011344
22 cryptorchidism 31 HP:0000028
23 short sternum 31 HP:0000879
24 intrauterine growth retardation 31 HP:0001511
25 postnatal growth retardation 31 HP:0008897
26 generalized tonic-clonic seizures 31 HP:0002069
27 ventriculomegaly 31 HP:0002119
28 cerebellar hypoplasia 31 HP:0001321
29 hypospadias 31 HP:0000047
30 upslanted palpebral fissure 31 HP:0000582
31 intellectual disability, profound 31 HP:0002187
32 high forehead 31 HP:0000348
33 midface retrusion 31 HP:0011800
34 oligohydramnios 31 HP:0001562
35 ambiguous genitalia 31 HP:0000062
36 bifid scrotum 31 HP:0000048
37 wide nose 31 HP:0000445
38 dandy-walker malformation 31 HP:0001305
39 nephroblastoma 31 HP:0002667
40 rhabdomyosarcoma 31 HP:0002859
41 micropenis 31 HP:0000054
42 renal cyst 31 HP:0000107
43 generalized hypotonia 31 HP:0001290
44 posteriorly rotated ears 31 HP:0000358
45 small for gestational age 31 HP:0001518
46 leukemia 31 HP:0001909
47 triangular mouth 31 HP:0000207
48 cerebral hypoplasia 31 HP:0006872
49 hypodysplasia of the corpus callosum 31 HP:0006849
50 premature chromatid separation 31 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 Congenital Chromosomal Disease 28
2 Mosaic Variegated Aneuploidy Syndrome 1 28 BUB1B

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 1

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

38
Eye

Publications for Mosaic Variegated Aneuploidy Syndrome 1

Articles related to Mosaic Variegated Aneuploidy Syndrome 1:

# Title Authors Year
1
Ciliopathy in PCS (MVA) syndrome. ( 26309087 )
2015

Variations for Mosaic Variegated Aneuploidy Syndrome 1

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

71
# 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 all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B BUB1B, IVS18AS, A-G, -11 single nucleotide variant Pathogenic
2 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh37 Chromosome 15, 40468873: 40468873
3 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh37 Chromosome 15, 40504844: 40504844
4 BUB1B BUB1B, 4-BP INS, 2211GTTA insertion Pathogenic
5 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Pathogenic rs28989182 GRCh37 Chromosome 15, 40504755: 40504755
6 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh37 Chromosome 15, 40512842: 40512842
7 BUB1B BUB1B, IVS10, G-T, -1 single nucleotide variant Pathogenic
8 BUB1B BUB1B, 1-BP DEL, 1833T deletion Pathogenic
9 BUB1B BUB1B, IVS10AS, A-G, -5 single nucleotide variant Pathogenic
10 BUB1B NM_001211.5(BUB1B): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs750364303 GRCh38 Chromosome 15, 40210133: 40210133
11 BUB1B NM_001211.5(BUB1B): c.340C> T (p.Arg114Ter) single nucleotide variant Pathogenic rs769350713 GRCh38 Chromosome 15, 40170637: 40170637
12 BUB1B NM_001211.5(BUB1B): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs767213728 GRCh37 Chromosome 15, 40494809: 40494809

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

Sources for Mosaic Variegated Aneuploidy Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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