MCID: MSC106
MIFTS: 27

Mosaic Variegated Aneuploidy Syndrome 2

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 2

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome 2:

Name: Mosaic Variegated Aneuploidy Syndrome 2 57 12 75 29 13 6 73
Mva2 57 75
Mosaic Variegated Aneuploidy Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
four patients have been reported (as of july 2011)
facial dysmorphic features are mild


HPO:

32
mosaic variegated aneuploidy syndrome 2:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 2

UniProtKB/Swiss-Prot : 75 Mosaic variegated aneuploidy syndrome 2: 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.

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 2, also known as mva2, is related to mosaic variegated aneuploidy syndrome. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 2 is CEP57 (Centrosomal Protein 57). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and lung, and related phenotypes are low-set ears and frontal bossing

OMIM : 57 Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15. (614114)

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 9.0 CEP57 FAM76B

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
temporal bossing (in 1/4 patients)
frontal bossing (in 1/4 patients)
narrow head (in 1/4 patients)
dolichocephaly (in 2/4 patients)

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
aortic valve regurgitation
congenital heart defects (in 2/4 patients)

Growth Weight:
low birth weight
intrauterine growth retardation (iugr)

Head And Neck Face:
long face (in 1/4 patients)
triangular face (in 2/4 patients)
micrognathia (in 2/4 patients)

Head And Neck Eyes:
deep-set eyes (in 1/4 patients)
short palpebral fissures (in 1/4 patients)
downslanting palpebral fissures (in 2/4 patients)
epicanthal folds (3/4 patients)

Respiratory Lung:
abnormal lung lobation (in 1/4 patients)

Skeletal:
delayed bone age (in 1/4 patients)

Skeletal Limbs:
rhizomelic shortening of the upper limbs (in 2/4 patients)

Skin Nails Hair Skin:
cafe-au-lait spot (in 1/4 patients)

Endocrine Features:
growth hormone deficiency (in 1/4 patients)
hypothyroidism (in 2/4 patients)

Growth Height:
short stature

Cardiovascular Vascular:
subaortic stenosis
aortic coarctation

Growth Other:
poor growth

Head And Neck Ears:
hearing impairment (in 1/4 patients)
low-set ears (in 2/4 patients)

Head And Neck Nose:
small nose (in 2/4 patients)
flat nasal bridge (in 2/4 patients)

Abdomen Gastrointestinal:
duodenal atresia (in 1/4 patients)

Skeletal Skull:
epidermoid cysts (in 1/4 patients)

Skeletal Hands:
clinodactyly (in 2/4 patients)

Neurologic Central Nervous System:
mild mental retardation (in 1/4 patients)
hypotonia (in 1/4 patients)
sleep apnea (in 1/4 patients)

Laboratory Abnormalities:
mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes
chromosomal structural abnormalities


Clinical features from OMIM:

614114

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 2:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 very rare (1%) HP:0000369
2 frontal bossing 32 very rare (1%) HP:0002007
3 clinodactyly 32 HP:0030084
4 hypothyroidism 32 very rare (1%) HP:0000821
5 sleep apnea 32 very rare (1%) HP:0010535
6 hearing impairment 32 very rare (1%) HP:0000365
7 delayed skeletal maturation 32 very rare (1%) HP:0002750
8 depressed nasal bridge 32 very rare (1%) HP:0005280
9 short nose 32 very rare (1%) HP:0003196
10 microcephaly 32 HP:0000252
11 short stature 32 HP:0004322
12 intellectual disability, mild 32 very rare (1%) HP:0001256
13 micrognathia 32 very rare (1%) HP:0000347
14 epicanthus 32 very rare (1%) HP:0000286
15 dolichocephaly 32 very rare (1%) HP:0000268
16 intrauterine growth retardation 32 HP:0001511
17 atrial septal defect 32 HP:0001631
18 coarctation of aorta 32 HP:0001680
19 deeply set eye 32 very rare (1%) HP:0000490
20 downslanted palpebral fissures 32 very rare (1%) HP:0000494
21 long face 32 very rare (1%) HP:0000276
22 ventricular septal defect 32 HP:0001629
23 blepharophimosis 32 very rare (1%) HP:0000581
24 triangular face 32 very rare (1%) HP:0000325
25 abnormal lung lobation 32 very rare (1%) HP:0002101
26 duodenal atresia 32 very rare (1%) HP:0002247
27 short palpebral fissure 32 very rare (1%) HP:0012745
28 cafe-au-lait spot 32 very rare (1%) HP:0000957
29 aortic regurgitation 32 HP:0001659
30 generalized hypotonia 32 very rare (1%) HP:0001290
31 small for gestational age 32 HP:0001518
32 growth hormone deficiency 32 very rare (1%) HP:0000824
33 subvalvular aortic stenosis 32 HP:0001682
34 epidermoid cyst 32 very rare (1%) HP:0200040

GenomeRNAi Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 CEP57 FAM76B
2 Decreased shRNA abundance GR00251-A-2 9.23 CEP57 FAM76B

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 2

Drugs for Mosaic Variegated Aneuploidy Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Study With MVA BN and Dryvax Completed NCT00082446 Phase 1

Search NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome 2

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 2

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 2:

# Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 2 29 CEP57

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 2

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome 2:

41
Eye, Heart, Lung, Bone

Publications for Mosaic Variegated Aneuploidy Syndrome 2

Variations for Mosaic Variegated Aneuploidy Syndrome 2

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 2:

6
(show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP57 CEP57, 2-BP DEL, 520GA deletion Pathogenic
2 CEP57 NM_014679.4(CEP57): c.915_925dupCAATGTTCAGC (p.Leu309Profs) duplication Pathogenic rs587776887 GRCh38 Chromosome 11, 95827815: 95827825
3 CEP57 NM_014679.4(CEP57): c.915_925dupCAATGTTCAGC (p.Leu309Profs) duplication Pathogenic rs587776887 GRCh37 Chromosome 11, 95560979: 95560989
4 CEP57 NM_014679.4(CEP57): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs387906977 GRCh37 Chromosome 11, 95546134: 95546134
5 CEP57 NM_014679.4(CEP57): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs387906977 GRCh38 Chromosome 11, 95812970: 95812970
6 CEP57 NM_014679.4(CEP57): c.4G> A (p.Ala2Thr) single nucleotide variant Uncertain significance rs878854985 GRCh38 Chromosome 11, 95790702: 95790702
7 CEP57 NM_014679.4(CEP57): c.4G> A (p.Ala2Thr) single nucleotide variant Uncertain significance rs878854985 GRCh37 Chromosome 11, 95523866: 95523866
8 CEP57 NM_014679.4(CEP57): c.807+3G> A single nucleotide variant Benign rs181776180 GRCh38 Chromosome 11, 95821981: 95821981
9 CEP57 NM_014679.4(CEP57): c.807+3G> A single nucleotide variant Benign rs181776180 GRCh37 Chromosome 11, 95555145: 95555145
10 CEP57 NM_014679.4(CEP57): c.1036T> C (p.Leu346=) single nucleotide variant Benign rs34254650 GRCh38 Chromosome 11, 95827936: 95827936
11 CEP57 NM_014679.4(CEP57): c.1036T> C (p.Leu346=) single nucleotide variant Benign rs34254650 GRCh37 Chromosome 11, 95561100: 95561100
12 CEP57 NM_014679.4(CEP57): c.572T> A (p.Leu191His) single nucleotide variant Uncertain significance rs150399616 GRCh37 Chromosome 11, 95551018: 95551018
13 CEP57 NM_014679.4(CEP57): c.572T> A (p.Leu191His) single nucleotide variant Uncertain significance rs150399616 GRCh38 Chromosome 11, 95817854: 95817854
14 CEP57 NM_014679.4(CEP57): c.753G> A (p.Pro251=) single nucleotide variant Benign rs11742 GRCh37 Chromosome 11, 95555088: 95555088
15 CEP57 NM_014679.4(CEP57): c.753G> A (p.Pro251=) single nucleotide variant Benign rs11742 GRCh38 Chromosome 11, 95821924: 95821924
16 CEP57 NM_014679.4(CEP57): c.807+8G> A single nucleotide variant Benign rs117602509 GRCh37 Chromosome 11, 95555150: 95555150
17 CEP57 NM_014679.4(CEP57): c.807+8G> A single nucleotide variant Benign rs117602509 GRCh38 Chromosome 11, 95821986: 95821986
18 CEP57 NM_014679.4(CEP57): c.798A> G (p.Pro266=) single nucleotide variant Benign rs61903295 GRCh37 Chromosome 11, 95555133: 95555133
19 CEP57 NM_014679.4(CEP57): c.798A> G (p.Pro266=) single nucleotide variant Benign rs61903295 GRCh38 Chromosome 11, 95821969: 95821969
20 CEP57 NM_014679.4(CEP57): c.1214T> C (p.Val405Ala) single nucleotide variant Uncertain significance rs763862458 GRCh37 Chromosome 11, 95562437: 95562437
21 CEP57 NM_014679.4(CEP57): c.1214T> C (p.Val405Ala) single nucleotide variant Uncertain significance rs763862458 GRCh38 Chromosome 11, 95829273: 95829273
22 CEP57 NM_014679.4(CEP57): c.333G> C (p.Gln111His) single nucleotide variant Benign rs117321017 GRCh37 Chromosome 11, 95546226: 95546226
23 CEP57 NM_014679.4(CEP57): c.333G> C (p.Gln111His) single nucleotide variant Benign rs117321017 GRCh38 Chromosome 11, 95813062: 95813062
24 CEP57 NM_014679.4(CEP57): c.451C> A (p.Arg151=) single nucleotide variant Likely benign rs771182933 GRCh37 Chromosome 11, 95546700: 95546700
25 CEP57 NM_014679.4(CEP57): c.451C> A (p.Arg151=) single nucleotide variant Likely benign rs771182933 GRCh38 Chromosome 11, 95813536: 95813536
26 CEP57 NM_014679.4(CEP57): c.520G> C (p.Glu174Gln) single nucleotide variant Uncertain significance rs1060501986 GRCh37 Chromosome 11, 95550966: 95550966
27 CEP57 NM_014679.4(CEP57): c.520G> C (p.Glu174Gln) single nucleotide variant Uncertain significance rs1060501986 GRCh38 Chromosome 11, 95817802: 95817802
28 CEP57 NM_014679.4(CEP57): c.979A> G (p.Ile327Val) single nucleotide variant Benign rs35604386 GRCh37 Chromosome 11, 95561043: 95561043
29 CEP57 NM_014679.4(CEP57): c.979A> G (p.Ile327Val) single nucleotide variant Benign rs35604386 GRCh38 Chromosome 11, 95827879: 95827879
30 CEP57 NM_014679.4(CEP57): c.422A> G (p.Asn141Ser) single nucleotide variant Uncertain significance rs149196489 GRCh38 Chromosome 11, 95813507: 95813507
31 CEP57 NM_014679.4(CEP57): c.422A> G (p.Asn141Ser) single nucleotide variant Uncertain significance rs149196489 GRCh37 Chromosome 11, 95546671: 95546671
32 CEP57 NM_014679.4(CEP57): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs557536640 GRCh38 Chromosome 11, 95827817: 95827817
33 CEP57 NM_014679.4(CEP57): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs557536640 GRCh37 Chromosome 11, 95560981: 95560981
34 CEP57 NM_014679.4(CEP57): c.1008A> G (p.Val336=) single nucleotide variant Likely benign rs933546735 GRCh37 Chromosome 11, 95561072: 95561072
35 CEP57 NM_014679.4(CEP57): c.1008A> G (p.Val336=) single nucleotide variant Likely benign rs933546735 GRCh38 Chromosome 11, 95827908: 95827908
36 CEP57 NM_014679.4(CEP57): c.677G> A (p.Arg226His) single nucleotide variant Likely benign rs143711180 GRCh38 Chromosome 11, 95818882: 95818882
37 CEP57 NM_014679.4(CEP57): c.677G> A (p.Arg226His) single nucleotide variant Likely benign rs143711180 GRCh37 Chromosome 11, 95552046: 95552046
38 CEP57 NM_014679.4(CEP57): c.925C> T (p.Leu309Phe) single nucleotide variant Likely benign rs548800686 GRCh38 Chromosome 11, 95827825: 95827825
39 CEP57 NM_014679.4(CEP57): c.925C> T (p.Leu309Phe) single nucleotide variant Likely benign rs548800686 GRCh37 Chromosome 11, 95560989: 95560989
40 CEP57 NM_014679.4(CEP57): c.510C> G (p.Ser170=) single nucleotide variant Likely benign rs201373134 GRCh37 Chromosome 11, 95550956: 95550956
41 CEP57 NM_014679.4(CEP57): c.510C> G (p.Ser170=) single nucleotide variant Likely benign rs201373134 GRCh38 Chromosome 11, 95817792: 95817792
42 CEP57 NM_014679.4(CEP57): c.751C> T (p.Pro251Ser) single nucleotide variant Uncertain significance rs149293164 GRCh38 Chromosome 11, 95821922: 95821922
43 CEP57 NM_014679.4(CEP57): c.751C> T (p.Pro251Ser) single nucleotide variant Uncertain significance rs149293164 GRCh37 Chromosome 11, 95555086: 95555086
44 CEP57 NM_014679.4(CEP57): c.1297_1305delCAGAAGAAG (p.Gln433_Lys435del) deletion Uncertain significance GRCh37 Chromosome 11, 95564214: 95564222
45 CEP57 NM_014679.4(CEP57): c.1297_1305delCAGAAGAAG (p.Gln433_Lys435del) deletion Uncertain significance GRCh38 Chromosome 11, 95831050: 95831058
46 CEP57 NM_014679.4(CEP57): c.65C> T (p.Ser22Leu) single nucleotide variant Uncertain significance rs554897859 GRCh38 Chromosome 11, 95799251: 95799251
47 CEP57 NM_014679.4(CEP57): c.65C> T (p.Ser22Leu) single nucleotide variant Uncertain significance rs554897859 GRCh37 Chromosome 11, 95532415: 95532415
48 CEP57 NM_014679.4(CEP57): c.95C> T (p.Ser32Phe) single nucleotide variant Uncertain significance rs139110744 GRCh38 Chromosome 11, 95799281: 95799281
49 CEP57 NM_014679.4(CEP57): c.95C> T (p.Ser32Phe) single nucleotide variant Uncertain significance rs139110744 GRCh37 Chromosome 11, 95532445: 95532445
50 CEP57 NM_014679.4(CEP57): c.373C> T (p.His125Tyr) single nucleotide variant Uncertain significance rs751973626 GRCh38 Chromosome 11, 95813102: 95813102

Expression for Mosaic Variegated Aneuploidy Syndrome 2

Search GEO for disease gene expression data for Mosaic Variegated Aneuploidy Syndrome 2.

Pathways for Mosaic Variegated Aneuploidy Syndrome 2

GO Terms for Mosaic Variegated Aneuploidy Syndrome 2

Sources for Mosaic Variegated Aneuploidy Syndrome 2

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