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 54 12 24 71 29 13
Mva Syndrome 24 71
Mosaic Variegated Aneuploidy Syndrome 69
Congenital Chromosomal Disease 69
Chromosome Disorders 42
Mva1 71

Characteristics:

OMIM:

54
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 : 54
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 3, and has symptoms including short stature, nystagmus and ventriculomegaly. 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 breast.

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 3 Mosaic Variegated Aneuploidy Syndrome 2
Mosaic Variegated Aneuploidy Syndrome 1

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

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 11.7
2 mosaic variegated aneuploidy syndrome 3 10.8
3 mosaic variegated aneuploidy syndrome 2 10.8
4 chromosomal disease 10.6
5 tetrasomy x 10.4
6 trisomy 22 10.4
7 emanuel syndrome 10.4
8 diploid-triploid mosaicism 10.4
9 mbd5 haploinsufficiency 10.2
10 distal chromosome 18q deletion syndrome 10.2
11 cri-du-chat syndrome 10.2
12 16q24.3 microdeletion syndrome 10.2
13 mosaic trisomy 14 10.2
14 chromosome 3q29 deletion syndrome 10.2
15 chromosome 10p deletion 10.2
16 mosaic trisomy 22 10.2
17 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.2
18 chromosome 13q duplication 10.2
19 chromosome 14q deletion 10.2
20 oligomeganephronic renal hypoplasia 10.2
21 chromosome 1p36 deletion syndrome 10.2
22 chromosome 16p13.3 deletion syndrome 10.2
23 proximal chromosome 18q deletion syndrome 10.2
24 chromosome 16q deletion 10.2
25 tetrasomy 9p 10.2
26 chromosome 17q deletion 10.2
27 chromosome 18p tetrasomy 10.2
28 tracheoesophageal fistula 10.2
29 patau syndrome 10.2
30 chromosome 19p deletion 10.2
31 trisomy 2 mosaicism 10.2
32 jacobsen syndrome 10.2
33 chromosome 22q duplication 10.2
34 chromosome 13q14 deletion syndrome 10.2
35 chromosome 9p duplication 10.2
36 distal trisomy 10q 10.2
37 chromosome 18p deletion syndrome 10.2
38 chromosome 9q deletion 10.2
39 down syndrome 10.2
40 turner syndrome 10.2
41 chromosome 9q duplication 10.2
42 ciliopathy 9.7
43 neural tube defects 9.5
44 pelizaeus-merzbacher disease 9.3
45 craniosynostosis 9.3
46 male infertility 9.3
47 primary ciliary dyskinesia 9.3
48 wolf-hirschhorn syndrome 9.3
49 gonadal dysgenesis 9.3
50 mixed gonadal dysgenesis 9.3

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
seizures, generalized tonic-clonic
hydrocephalus
mental retardation, profound
cerebellar hypoplasia
agenesis of the corpus callosum
more
Head And Neck- Ears:
low-set ears
posteriorly rotated ears

Genitourinary:
ambiguous genitalia

Head And Neck- Mouth:
cleft palate
triangular shaped mouth

Head And Neck- Neck:
short neck

Genitourinary- Kidneys:
renal cysts
wilms tumor

Abdomen- Gastroin testinal:
feeding difficulties

Neoplasia:
wilms tumor
leukemia
rhabdomyosarcoma
nephroblastoma
propensity to tumor development

Chest- Ribs Sternum Clavicles And Scapulae:
short sternum

Prenatal Manifestations- Delivery:
premature labor

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

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

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

Genitourinary- External Genitalia Male:
micropenis
hypospadias
bifid scrotum

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Weight:
low birth weight
low postnatal weight

Head And Neck- Head:
brachycephaly
microcephaly, severe

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios

Growth- Other:
growth retardation, prenatal and postnatal

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

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 1

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


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 1 29 24 BUB1B

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 1

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

39
Eye, Breast

Publications for Mosaic Variegated Aneuploidy Syndrome 1

Variations for Mosaic Variegated Aneuploidy Syndrome 1

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

71
id 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)
id 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.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh37 Chromosome 15, 40504844: 40504844
3 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Pathogenic rs28989183 GRCh37 Chromosome 15, 40509781: 40509781
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 BUB1B, IVS18AS, A-G, -11 single nucleotide variant Pathogenic
11 BUB1B NM_001211.5(BUB1B): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs750364303 GRCh38 Chromosome 15, 40210133: 40210133
12 BUB1B NM_001211.5(BUB1B): c.340C> T (p.Arg114Ter) single nucleotide variant Pathogenic rs769350713 GRCh38 Chromosome 15, 40170637: 40170637

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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