MVA2
MCID: MSC106
MIFTS: 41

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 57 12 72 29 13 6 15 70
Mva2 57 72
Mosaic Variegated Aneuploidy Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
five patients have been reported (last curated may 2014)
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 : 72 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 Fc gamma R-mediated phagocytosis and Staphylococcus aureus infection. Affiliated tissues include eye, lung and bone, and related phenotypes are temporal bossing and frontal bossing

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® : 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) (Updated 05-Apr-2021)

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 frontal bossing 31 very rare (1%) HP:0002007
3 sleep apnea 31 very rare (1%) HP:0010535
4 hypothyroidism 31 very rare (1%) HP:0000821
5 hearing impairment 31 very rare (1%) HP:0000365
6 delayed skeletal maturation 31 very rare (1%) HP:0002750
7 depressed nasal bridge 31 very rare (1%) HP:0005280
8 short nose 31 very rare (1%) HP:0003196
9 intellectual disability, mild 31 very rare (1%) HP:0001256
10 micrognathia 31 very rare (1%) HP:0000347
11 low-set ears 31 very rare (1%) HP:0000369
12 epicanthus 31 very rare (1%) HP:0000286
13 dolichocephaly 31 very rare (1%) HP:0000268
14 downslanted palpebral fissures 31 very rare (1%) HP:0000494
15 long face 31 very rare (1%) HP:0000276
16 deeply set eye 31 very rare (1%) HP:0000490
17 blepharophimosis 31 very rare (1%) HP:0000581
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 epidermoid cyst 31 very rare (1%) HP:0200040
25 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
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 subvalvular aortic stenosis 31 HP:0001682
35 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
frontal bossing
microcephaly
dolichocephaly
temporal bossing
narrow head

Endocrine Features:
hypothyroidism
growth hormone deficiency

Head And Neck Face:
micrognathia
long face
triangular face

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital heart defects
aortic valve regurgitation

Respiratory Lung:
abnormal lung lobation

Skin Nails Hair Skin:
cafe-au-lait spot

Neurologic Central Nervous System:
hypotonia
impaired intellectual development, mild (uncommon)
sleep apnea (rare)

Head And Neck Nose:
small nose
flat nasal bridge

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

Cardiovascular Vascular:
aortic coarctation
subaortic stenosis

Skeletal Limbs:
rhizomelic shortening of the upper limbs

Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Ears:
low-set ears
hearing impairment (rare)

Skin Nails Hair Hair:
sparse hair

Abdomen Gastrointestinal:
duodenal atresia

Skeletal Hands:
clinodactyly
single palmar crease

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
deep-set eyes
short palpebral fissures
closely spaced eyes

Skeletal:
delayed bone age

Skeletal Skull:
epidermoid cysts
skull anomalies
craniosynostosis with premature fusion of sagittal and metopic sutures (rare)

Growth Other:
poor growth

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

Clinical features from OMIM®:

614114 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 BUB1B CEP57 DYNC2H1 FCGR3B 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, Lung, Bone, Heart

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 57
24259107 2014
2
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 57 6
21552266 2011
3
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. 6 57
18548531 2008
4
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. 6 57
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 146)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP57 NM_014679.5(CEP57):c.518_519GA[1] (p.Glu174fs) Microsatellite Pathogenic 30690 rs1565326373 GRCh37: 11:95550963-95550964
GRCh38: 11:95817799-95817800
2 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) Duplication Pathogenic 30691 rs1166323407 GRCh37: 11:95560979-95560989
GRCh38: 11:95827811-95827812
3 CEP57 NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) SNV Pathogenic 30692 rs387906977 GRCh37: 11:95546134-95546134
GRCh38: 11:95812970-95812970
4 CEP57 NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) SNV Pathogenic 643769 rs771182933 GRCh37: 11:95546700-95546700
GRCh38: 11:95813536-95813536
5 CEP57 NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) SNV Pathogenic 936628 GRCh37: 11:95555113-95555113
GRCh38: 11:95821949-95821949
6 CEP57 NM_014679.5(CEP57):c.382+2T>C SNV Pathogenic 977798 GRCh37: 11:95546277-95546277
GRCh38: 11:95813113-95813113
7 CEP57 NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter) SNV Pathogenic 1030345 GRCh37: 11:95561079-95561079
GRCh38: 11:95827915-95827915
8 CEP57 NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) Deletion Likely pathogenic 638495 rs1590962541 GRCh37: 11:95564319-95564319
GRCh38: 11:95831155-95831155
9 CEP57 NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) SNV Conflicting interpretations of pathogenicity 696640 rs768269976 GRCh37: 11:95555099-95555099
GRCh38: 11:95821935-95821935
10 CEP57 NM_014679.5(CEP57):c.677G>A (p.Arg226His) SNV Conflicting interpretations of pathogenicity 472259 rs143711180 GRCh37: 11:95552046-95552046
GRCh38: 11:95818882-95818882
11 CEP57 NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) SNV Uncertain significance 472257 rs149196489 GRCh37: 11:95546671-95546671
GRCh38: 11:95813507-95813507
12 CEP57 NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) SNV Uncertain significance 640663 rs755140070 GRCh37: 11:95552039-95552039
GRCh38: 11:95818875-95818875
13 CEP57 NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) SNV Uncertain significance 664204 rs146538238 GRCh37: 11:95564320-95564320
GRCh38: 11:95831156-95831156
14 CEP57 NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) SNV Uncertain significance 847828 GRCh37: 11:95546151-95546151
GRCh38: 11:95812987-95812987
15 CEP57 NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) SNV Uncertain significance 861263 GRCh37: 11:95546228-95546228
GRCh38: 11:95813064-95813064
16 CEP57 NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg) SNV Uncertain significance 864544 GRCh37: 11:95561095-95561095
GRCh38: 11:95827931-95827931
17 CEP57 NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys) SNV Uncertain significance 933260 GRCh37: 11:95561139-95561139
GRCh38: 11:95827975-95827975
18 CEP57 NM_014679.5(CEP57):c.1286dup (p.Leu430fs) Duplication Uncertain significance 938902 GRCh37: 11:95564201-95564202
GRCh38: 11:95831037-95831038
19 CEP57 NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) SNV Uncertain significance 939932 GRCh37: 11:95560960-95560960
GRCh38: 11:95827796-95827796
20 CEP57 NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) SNV Uncertain significance 945524 GRCh37: 11:95550998-95550998
GRCh38: 11:95817834-95817834
21 CEP57 NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr) SNV Uncertain significance 946126 GRCh37: 11:95562419-95562419
GRCh38: 11:95829255-95829255
22 CEP57 NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro) SNV Uncertain significance 958761 GRCh37: 11:95561109-95561109
GRCh38: 11:95827945-95827945
23 CEP57 NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) SNV Uncertain significance 971868 GRCh37: 11:95523893-95523893
GRCh38: 11:95790729-95790729
24 CEP57 NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) SNV Uncertain significance 997512 GRCh37: 11:95564274-95564274
GRCh38: 11:95831110-95831110
25 CEP57 NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) SNV Uncertain significance 997616 GRCh37: 11:95546126-95546126
GRCh38: 11:95812962-95812962
26 CEP57 NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) SNV Uncertain significance 1003179 GRCh37: 11:95546156-95546156
GRCh38: 11:95812992-95812992
27 CEP57 NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) SNV Uncertain significance 1005140 GRCh37: 11:95564401-95564401
GRCh38: 11:95831237-95831237
28 CEP57 NM_014679.5(CEP57):c.550A>G (p.Ser184Gly) SNV Uncertain significance 1005438 GRCh37: 11:95550996-95550996
GRCh38: 11:95817832-95817832
29 CEP57 NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr) SNV Uncertain significance 1006057 GRCh37: 11:95561115-95561115
GRCh38: 11:95827951-95827951
30 CEP57 NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys) SNV Uncertain significance 1008166 GRCh37: 11:95562443-95562443
GRCh38: 11:95829279-95829279
31 CEP57 NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) SNV Uncertain significance 1010140 GRCh37: 11:95546110-95546110
GRCh38: 11:95812946-95812946
32 CEP57 NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys) SNV Uncertain significance 1010256 GRCh37: 11:95564370-95564370
GRCh38: 11:95831206-95831206
33 CEP57 NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr) SNV Uncertain significance 1010370 GRCh37: 11:95561092-95561092
GRCh38: 11:95827928-95827928
34 CEP57 NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr) SNV Uncertain significance 1010988 GRCh37: 11:95562430-95562430
GRCh38: 11:95829266-95829266
35 CEP57 NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) SNV Uncertain significance 472260 rs149293164 GRCh37: 11:95555086-95555086
GRCh38: 11:95821922-95821922
36 CEP57 NM_014679.5(CEP57):c.917A>G (p.Asn306Ser) SNV Uncertain significance 472261 rs557536640 GRCh37: 11:95560981-95560981
GRCh38: 11:95827817-95827817
37 CEP57 NM_014679.5(CEP57):c.505-9_505-6del Deletion Uncertain significance 571688 rs1565326346 GRCh37: 11:95550940-95550943
GRCh38: 11:95817776-95817779
38 CEP57 NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu) Indel Uncertain significance 856443 GRCh37: 11:95561139-95561140
GRCh38: 11:95827975-95827976
39 CEP57 NM_014679.5(CEP57):c.304A>G (p.Ile102Val) SNV Uncertain significance 937085 GRCh37: 11:95546197-95546197
GRCh38: 11:95813033-95813033
40 CEP57 NM_014679.5(CEP57):c.846T>C (p.Tyr282=) SNV Uncertain significance 941850 GRCh37: 11:95555701-95555701
GRCh38: 11:95822537-95822537
41 CEP57 NM_014679.5(CEP57):c.1122G>T (p.Met374Ile) SNV Uncertain significance 942902 GRCh37: 11:95561186-95561186
GRCh38: 11:95828022-95828022
42 CEP57 NM_014679.5(CEP57):c.245G>A (p.Arg82His) SNV Uncertain significance 947834 GRCh37: 11:95546138-95546138
GRCh38: 11:95812974-95812974
43 CEP57 NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) SNV Uncertain significance 954847 GRCh37: 11:95546689-95546689
GRCh38: 11:95813525-95813525
44 CEP57 NM_014679.5(CEP57):c.680T>C (p.Met227Thr) SNV Uncertain significance 956588 GRCh37: 11:95552049-95552049
GRCh38: 11:95818885-95818885
45 CEP57 NM_014679.5(CEP57):c.504A>G (p.Gln168=) SNV Uncertain significance 961242 GRCh37: 11:95546753-95546753
GRCh38: 11:95813589-95813589
46 CEP57 NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) SNV Uncertain significance 962319 GRCh37: 11:95546659-95546659
GRCh38: 11:95813495-95813495
47 CEP57 NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) SNV Uncertain significance 1017539 GRCh37: 11:95551045-95551045
GRCh38: 11:95817881-95817881
48 CEP57 NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys) SNV Uncertain significance 1024278 GRCh37: 11:95561148-95561148
GRCh38: 11:95827984-95827984
49 CEP57 NM_014679.5(CEP57):c.752C>T (p.Pro251Leu) SNV Uncertain significance 1025718 GRCh37: 11:95555087-95555087
GRCh38: 11:95821923-95821923
50 CEP57 NM_014679.5(CEP57):c.572T>A (p.Leu191His) SNV Uncertain significance 408446 rs150399616 GRCh37: 11:95551018-95551018
GRCh38: 11:95817854-95817854

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 11.24 FCGR3B FCGR3A
2 11.14 FCGR3B FCGR3A
3 10.98 FCGR3B FCGR3A DYNC2H1
4 10.78 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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