MVA2
MCID: MSC106
MIFTS: 40

Mosaic Variegated Aneuploidy Syndrome 2 (MVA2)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 2

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome 2:

Name: Mosaic Variegated Aneuploidy Syndrome 2 56 12 73 29 13 6 15 71
Mva2 56 73
Mosaic Variegated Aneuploidy Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
mosaic variegated aneuploidy syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 2

UniProtKB/Swiss-Prot : 73 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 1 and patau syndrome. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 2 is CEP57 (Centrosomal Protein 57), and among its related pathways/superpathways are Staphylococcus aureus infection and Phagosome. Affiliated tissues include eye, heart and lung, and related phenotypes are temporal bossing and hearing impairment

Disease Ontology : 12 A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has material basis in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.

OMIM : 56 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

Graphical network of the top 20 diseases related to Mosaic Variegated Aneuploidy Syndrome 2:



Diseases related to Mosaic Variegated Aneuploidy Syndrome 2

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 2

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 2:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 temporal bossing 31 occasional (7.5%) HP:0032569
2 hearing impairment 31 very rare (1%) HP:0000365
3 delayed skeletal maturation 31 very rare (1%) HP:0002750
4 depressed nasal bridge 31 very rare (1%) HP:0005280
5 short nose 31 very rare (1%) HP:0003196
6 hypothyroidism 31 very rare (1%) HP:0000821
7 intellectual disability, mild 31 very rare (1%) HP:0001256
8 frontal bossing 31 very rare (1%) HP:0002007
9 micrognathia 31 very rare (1%) HP:0000347
10 low-set ears 31 very rare (1%) HP:0000369
11 epicanthus 31 very rare (1%) HP:0000286
12 dolichocephaly 31 very rare (1%) HP:0000268
13 downslanted palpebral fissures 31 very rare (1%) HP:0000494
14 long face 31 very rare (1%) HP:0000276
15 deeply set eye 31 very rare (1%) HP:0000490
16 blepharophimosis 31 very rare (1%) HP:0000581
17 sleep apnea 31 very rare (1%) HP:0010535
18 triangular face 31 very rare (1%) HP:0000325
19 abnormal lung lobation 31 very rare (1%) HP:0002101
20 duodenal atresia 31 very rare (1%) HP:0002247
21 cafe-au-lait spot 31 very rare (1%) HP:0000957
22 generalized hypotonia 31 very rare (1%) HP:0001290
23 short palpebral fissure 31 very rare (1%) HP:0012745
24 growth hormone deficiency 31 very rare (1%) HP:0000824
25 epidermoid cyst 31 very rare (1%) HP:0200040
26 microcephaly 31 HP:0000252
27 short stature 31 HP:0004322
28 intrauterine growth retardation 31 HP:0001511
29 atrial septal defect 31 HP:0001631
30 coarctation of aorta 31 HP:0001680
31 ventricular septal defect 31 HP:0001629
32 aortic regurgitation 31 HP:0001659
33 small for gestational age 31 HP:0001518
34 clinodactyly 31 HP:0030084
35 subvalvular aortic stenosis 31 HP:0001682

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 BUB1B CEP57 DYNC2H1 FOXM1 NCAM1 TRIP13

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 2

Search Clinical Trials , 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:

40
Eye, Heart, Lung, Bone

Publications for Mosaic Variegated Aneuploidy Syndrome 2

Articles related to Mosaic Variegated Aneuploidy Syndrome 2:

# Title Authors PMID Year
1
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. 6 56
24259107 2014
2
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 56 6
21552266 2011
3
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. 6 56
18548531 2008
4
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. 56 6
12116237 2002
5
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? 61
31943948 2020
6
Viologen-modified platinum clusters acting as an efficient catalyst in photocatalytic hydrogen evolution. 61
17125375 2006

Variations for Mosaic Variegated Aneuploidy Syndrome 2

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 2:

6 (show top 50) (show all 87) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP57 NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)SNV Pathogenic 643769 11:95546700-95546700 11:95813536-95813536
2 CEP57 NM_014679.5(CEP57):c.518_519GA[1] (p.Glu174fs)short repeat Pathogenic 30690 rs1565326373 11:95550963-95550964 11:95817799-95817800
3 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)duplication Pathogenic 30691 rs1166323407 11:95560979-95560989 11:95827811-95827812
4 CEP57 NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)SNV Pathogenic 30692 rs387906977 11:95546134-95546134 11:95812970-95812970
5 CEP57 NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)deletion Likely pathogenic 638495 11:95564319-95564319 11:95831155-95831155
6 CEP57 NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)SNV Uncertain significance 642617 11:95523887-95523887 11:95790723-95790723
7 CEP57 NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)SNV Uncertain significance 641896 11:95532472-95532472 11:95799308-95799308
8 CEP57 NM_014679.5(CEP57):c.366A>C (p.Glu122Asp)SNV Uncertain significance 640428 11:95546259-95546259 11:95813095-95813095
9 CEP57 NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)SNV Uncertain significance 240921 rs878854985 11:95523866-95523866 11:95790702-95790702
10 CEP57 NM_014679.5(CEP57):c.458T>C (p.Met153Thr)SNV Uncertain significance 665282 11:95546707-95546707 11:95813543-95813543
11 CEP57 NM_014679.5(CEP57):c.670A>G (p.Arg224Gly)SNV Uncertain significance 640663 11:95552039-95552039 11:95818875-95818875
12 CEP57 NM_014679.5(CEP57):c.701T>G (p.Leu234Trp)SNV Uncertain significance 650647 11:95555036-95555036 11:95821872-95821872
13 CEP57 NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser)SNV Uncertain significance 661026 11:95562388-95562388 11:95829224-95829224
14 CEP57 NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln)SNV Uncertain significance 664204 11:95564320-95564320 11:95831156-95831156
15 CEP57 NM_014679.5(CEP57):c.1272+4A>CSNV Uncertain significance 656154 11:95562499-95562499 11:95829335-95829335
16 CEP57 NM_014679.5(CEP57):c.39C>G (p.His13Gln)SNV Uncertain significance 836256 11:95523901-95523901 11:95790737-95790737
17 CEP57 NM_014679.5(CEP57):c.88C>A (p.Arg30=)SNV Uncertain significance 837051 11:95532438-95532438 11:95799274-95799274
18 CEP57 NM_014679.5(CEP57):c.145G>A (p.Asp49Asn)SNV Uncertain significance 857413 11:95532495-95532495 11:95799331-95799331
19 CEP57 NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)SNV Uncertain significance 843213 11:95532520-95532520 11:95799356-95799356
20 CEP57 NM_014679.5(CEP57):c.226C>G (p.Leu76Val)SNV Uncertain significance 862197 11:95546119-95546119 11:95812955-95812955
21 CEP57 NM_014679.5(CEP57):c.244C>T (p.Arg82Cys)SNV Uncertain significance 855218 11:95546137-95546137 11:95812973-95812973
22 CEP57 NM_014679.5(CEP57):c.258G>C (p.Glu86Asp)SNV Uncertain significance 847828 11:95546151-95546151 11:95812987-95812987
23 CEP57 NM_014679.5(CEP57):c.335T>A (p.Ile112Lys)SNV Uncertain significance 861263 11:95546228-95546228 11:95813064-95813064
24 CEP57 NM_014679.5(CEP57):c.723T>G (p.Asn241Lys)SNV Uncertain significance 861697 11:95555058-95555058 11:95821894-95821894
25 CEP57 NM_014679.5(CEP57):c.746C>T (p.Ala249Val)SNV Uncertain significance 862343 11:95555081-95555081 11:95821917-95821917
26 CEP57 NM_014679.5(CEP57):c.833C>T (p.Ala278Val)SNV Uncertain significance 839477 11:95555688-95555688 11:95822524-95822524
27 CEP57 NM_014679.5(CEP57):c.918T>A (p.Asn306Lys)SNV Uncertain significance 863400 11:95560982-95560982 11:95827818-95827818
28 CEP57 NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg)SNV Uncertain significance 864544 11:95561095-95561095 11:95827931-95827931
29 CEP57 NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile)SNV Uncertain significance 845465 11:95561110-95561110 11:95827946-95827946
30 CEP57 NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu)indel Uncertain significance 856443 11:95561139-95561140 11:95827975-95827976
31 CEP57 NM_014679.5(CEP57):c.1281_1295del (p.425_429LEKQK[1])deletion Uncertain significance 844393 11:95564193-95564207 11:95831029-95831043
32 CEP57 NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu)SNV Uncertain significance 847518 11:95564211-95564211 11:95831047-95831047
33 CEP57 NM_014679.5(CEP57):c.382+4T>CSNV Uncertain significance 852794 11:95546279-95546279 11:95813115-95813115
34 CEP57 NM_014679.5(CEP57):c.1273-7G>ASNV Uncertain significance 834297 11:95564183-95564183 11:95831019-95831019
35 CEP57 NM_014679.5(CEP57):c.572T>A (p.Leu191His)SNV Uncertain significance 408446 rs150399616 11:95551018-95551018 11:95817854-95817854
36 CEP57 NM_014679.5(CEP57):c.1214T>C (p.Val405Ala)SNV Uncertain significance 408445 rs763862458 11:95562437-95562437 11:95829273-95829273
37 CEP57 NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)SNV Uncertain significance 408447 rs1060501986 11:95550966-95550966 11:95817802-95817802
38 CEP57 NM_014679.5(CEP57):c.422A>G (p.Asn141Ser)SNV Uncertain significance 472257 rs149196489 11:95546671-95546671 11:95813507-95813507
39 CEP57 NM_014679.5(CEP57):c.917A>G (p.Asn306Ser)SNV Uncertain significance 472261 rs557536640 11:95560981-95560981 11:95827817-95827817
40 CEP57 NM_014679.5(CEP57):c.751C>T (p.Pro251Ser)SNV Uncertain significance 472260 rs149293164 11:95555086-95555086 11:95821922-95821922
41 CEP57 NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)deletion Uncertain significance 472256 rs761197192 11:95564209-95564217 11:95831045-95831053
42 CEP57 NM_014679.5(CEP57):c.373C>T (p.His125Tyr)SNV Uncertain significance 539587 rs751973626 11:95546266-95546266 11:95813102-95813102
43 CEP57 NM_014679.5(CEP57):c.448A>T (p.Met150Leu)SNV Uncertain significance 539590 rs1392775846 11:95546697-95546697 11:95813533-95813533
44 CEP57 NM_014679.5(CEP57):c.787A>C (p.Lys263Gln)SNV Uncertain significance 539585 rs1555052344 11:95555122-95555122 11:95821958-95821958
45 CEP57 NM_014679.5(CEP57):c.503A>T (p.Gln168Leu)SNV Uncertain significance 539582 rs1433730979 11:95546752-95546752 11:95813588-95813588
46 CEP57 NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe)SNV Uncertain significance 539584 rs1555053893 11:95561122-95561122 11:95827958-95827958
47 CEP57 NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)SNV Uncertain significance 539593 rs577173144 11:95532439-95532439 11:95799275-95799275
48 CEP57 NM_014679.5(CEP57):c.926T>G (p.Leu309Arg)SNV Uncertain significance 539591 rs567427808 11:95560990-95560990 11:95827826-95827826
49 CEP57 NM_014679.5(CEP57):c.23C>T (p.Ala8Val)SNV Uncertain significance 539592 rs751018904 11:95523885-95523885 11:95790721-95790721
50 CEP57 NM_014679.5(CEP57):c.26C>T (p.Ala9Val)SNV Uncertain significance 539589 rs1171650821 11:95523888-95523888 11:95790724-95790724

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

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

# Super pathways Score Top Affiliating Genes
1 11.14 FCGR3B FCGR3A
2 10.98 FCGR3B FCGR3A DYNC2H1
3 10.92 FCGR3B FCGR3A

GO Terms for Mosaic Variegated Aneuploidy Syndrome 2

Biological processes related to Mosaic Variegated Aneuploidy Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatid development GO:0007286 8.96 TRIP13 CEP57
2 mitotic spindle assembly checkpoint GO:0007094 8.62 TRIP13 BUB1B

Molecular functions related to Mosaic Variegated Aneuploidy Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 8.62 FCGR3B FCGR3A

Sources for Mosaic Variegated Aneuploidy Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....