MCID: MSC106
MIFTS: 24

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 53 12 71 28 13 69
Mva2 53 71

Characteristics:

OMIM:

53
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:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 2

UniProtKB/Swiss-Prot : 71 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, is also known as mva2, and has symptoms including low-set ears, frontal bossing and clinodactyly. 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.

OMIM : 53 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

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
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:

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

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 28 CEP57

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 2

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

38
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
# 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.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs387906977 GRCh37 Chromosome 11, 95546134: 95546134

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

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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