MCID: MSC106
MIFTS: 25

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 54 12 24 71 29 13 69
Mva2 71

Characteristics:

OMIM:

54
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 : 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 short stature, microcephaly and long face. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 2 is CEP57 (Centrosomal Protein 57). The drugs Vaccines and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and lung.

OMIM : 54
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:

54

Growth- Height:
short stature

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)

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)

Growth- Other:
poor growth

Cardiovascular- Vascular:
aortic coarctation
subaortic stenosis

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:

32 (show all 34)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 microcephaly 32 HP:0000252
3 long face 32 very rare (1%) HP:0000276
4 low-set ears 32 very rare (1%) HP:0000369
5 micrognathia 32 very rare (1%) HP:0000347
6 depressed nasal bridge 32 very rare (1%) HP:0005280
7 intrauterine growth retardation 32 HP:0001511
8 atrial septal defect 32 HP:0001631
9 frontal bossing 32 very rare (1%) HP:0002007
10 short nose 32 very rare (1%) HP:0003196
11 ventricular septal defect 32 HP:0001629
12 clinodactyly 32 HP:0030084
13 intellectual disability, mild 32 very rare (1%) HP:0001256
14 coarctation of aorta 32 HP:0001680
15 triangular face 32 very rare (1%) HP:0000325
16 downslanted palpebral fissures 32 very rare (1%) HP:0000494
17 duodenal atresia 32 very rare (1%) HP:0002247
18 growth hormone deficiency 32 very rare (1%) HP:0000824
19 blepharophimosis 32 very rare (1%) HP:0000581
20 hypothyroidism 32 very rare (1%) HP:0000821
21 dolichocephaly 32 very rare (1%) HP:0000268
22 epicanthus 32 very rare (1%) HP:0000286
23 muscular hypotonia 32 occasional (7.5%) HP:0001252
24 small for gestational age 32 HP:0001518
25 delayed skeletal maturation 32 very rare (1%) HP:0002750
26 subaortic stenosis 32 HP:0001682
27 sleep apnea 32 very rare (1%) HP:0010535
28 aortic regurgitation 32 HP:0001659
29 hearing impairment 32 very rare (1%) HP:0000365
30 abnormal lung lobation 32 very rare (1%) HP:0002101
31 short palpebral fissure 32 occasional (7.5%) HP:0012745
32 deeply set eye 32 very rare (1%) HP:0000490
33 cafe-au-lait spot 32 very rare (1%) HP:0000957
34 epidermal cyst 32 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):


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 2

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 2

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 2:

id Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 2 29 24 CEP57

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 2

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

39
Eye, Heart, Lung, Bone, Breast

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
id 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
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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