MCID: MSC022
MIFTS: 50

Mosaic Variegated Aneuploidy Syndrome

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

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome:

Name: Mosaic Variegated Aneuploidy Syndrome 12 52 25 58 36 29 6 39 71
Warburton-Anyane-Yeboa Syndrome 52 25 58
Mva Syndrome 52 25
Mosaic Variegated Aneuplody Microcephaly Syndrome 25
Warburton Anyane Yeboa Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
mosaic variegated aneuploidy syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Mosaic Variegated Aneuploidy Syndrome

Genetics Home Reference : 25 Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated. In MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia. Less commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome. There are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome, also known as warburton-anyane-yeboa syndrome, is related to mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome 1, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome is CEP57 (Centrosomal Protein 57), and among its related pathways/superpathways are Cell cycle and Cell Cycle, Mitotic. Affiliated tissues include eye, brain and kidney, and related phenotypes are cataract and corneal opacity

Disease Ontology : 12 A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.

NIH Rare Diseases : 52 Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis ) that results in a high number of cells with missing (monosomy ) or extra (trisomy ) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly , growth deficiency and short stature , mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system , seizures , developmental delay , and intellectual disability . The risk for cancer is increased, with rhabdomyosarcoma , Wilm's tumor , and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations ) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division. Treatment depends on the symptoms present in each person, but may include growth hormone therapy . Individuals with a BUB1B mutations should also be offered cancer screening .

KEGG : 36 Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B, CEP57, and TRIP13 genes cause MVA.

Related Diseases for Mosaic Variegated Aneuploidy Syndrome

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



Diseases related to Mosaic Variegated Aneuploidy Syndrome

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 ascites 58 31 hallmark (90%) Very frequent (99-80%) HP:0001541
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
8 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
9 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
10 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
11 increased nuchal translucency 58 31 hallmark (90%) Very frequent (99-80%) HP:0010880
12 muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003560
13 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
14 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
15 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
16 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
17 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
18 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
20 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
21 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
22 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
23 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
24 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
25 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
26 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
27 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
28 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
29 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
30 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
31 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
32 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
33 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
34 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
35 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
36 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
37 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
38 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
39 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
40 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
41 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
42 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
43 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
44 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
45 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
46 intestinal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200008
47 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
48 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
49 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
50 acute lymphoblastic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006721

UMLS symptoms related to Mosaic Variegated Aneuploidy Syndrome:


myoclonic seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.1 BUB1B BUB3 TRIP13
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.1 BUB1B BUB3 TRIP13
3 Decreased mitotic index GR00110-A-0 8.96 BUB1 BUB1B

MGI Mouse Phenotypes related to Mosaic Variegated Aneuploidy Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 BUB1 BUB1B BUB3 CEP57 TRIP13
2 neoplasm MP:0002006 8.92 BUB1 BUB1B BUB3 CEP57

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome

Search Clinical Trials , NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome:

# Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 29

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome:

40
Eye, Brain, Kidney, Heart, Cerebellum, Colon, Lung

Publications for Mosaic Variegated Aneuploidy Syndrome

Articles related to Mosaic Variegated Aneuploidy Syndrome:

(show all 29)
# Title Authors PMID Year
1
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. 61 52 6
24259107 2014
2
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 61 6
21552266 2011
3
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. 6 61
21190457 2010
4
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome. 61 52
23916859 2013
5
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. 6
18548531 2008
6
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. 6
16411201 2006
7
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 6
15475955 2004
8
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. 6
12116237 2002
9
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. 6
11169558 2001
10
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. 6
9916837 1999
11
A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review. 52
25696020 2015
12
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? 61
31943948 2020
13
Long-term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis. 61
31081598 2019
14
Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy. 61
31184400 2019
15
Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome. 61
31053147 2019
16
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. 61
30010053 2019
17
The Cep57-pericentrin module organizes PCM expansion and centriole engagement. 61
30804344 2019
18
[Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome]. 61
30512160 2018
19
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. 61
30035751 2018
20
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. 61
30147898 2018
21
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. 61
29448935 2018
22
Age-related decline in BubR1 impairs adult hippocampal neurogenesis. 61
28383136 2017
23
Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome? 61
27931980 2017
24
PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene. 61
28611924 2017
25
p21 both attenuates and drives senescence and aging in BubR1 progeroid mice. 61
23602569 2013
26
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. 61
16182441 2006
27
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. 61
16059936 2005
28
High risk of malignancy in mosaic variegated aneuploidy syndrome. 61
12567425 2003
29
High risk of malignancy in mosaic variegated aneuploidy syndrome. 61
11932988 2002

Variations for Mosaic Variegated Aneuploidy Syndrome

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome:

6 (show top 50) (show all 199) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP57 NM_014679.5(CEP57):c.724del (p.Arg242fs)deletion Pathogenic 431798 rs1555052278 11:95555059-95555059 11:95821895-95821895
2 BUB1B NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter)SNV Pathogenic 434546 rs769350713 15:40462838-40462838 15:40170637-40170637
3 BUB1B NM_001211.5(BUB1B):c.1387A>T (p.Arg463Ter)SNV Pathogenic 572796 rs1566824608 15:40491914-40491914 15:40199713-40199713
4 BUB1B NM_001211.5(BUB1B):c.1954C>T (p.Gln652Ter)SNV Pathogenic 581252 rs1401171363 15:40498604-40498604 15:40206403-40206403
5 BUB1B NM_001211.5(BUB1B):c.2210T>G (p.Leu737Ter)SNV Pathogenic 533901 rs759242053 15:40501902-40501902 15:40209701-40209701
6 BUB1B NM_001211.5(BUB1B):c.2316C>G (p.Tyr772Ter)SNV Pathogenic 639058 15:40502342-40502342 15:40210141-40210141
7 BUB1B NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)SNV Pathogenic 854842 15:40477539-40477539 15:40185338-40185338
8 BUB1B NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)SNV Pathogenic 851299 15:40462856-40462856 15:40170655-40170655
9 BUB1B NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)deletion Pathogenic 849777 15:40476040-40476043 15:40183839-40183842
10 BUB1B NM_001211.6(BUB1B):c.967-2A>TSNV Likely pathogenic 863360 15:40477750-40477750 15:40185549-40185549
11 BUB1B NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp)SNV Conflicting interpretations of pathogenicity 133777 rs148159407 15:40477419-40477419 15:40185218-40185218
12 BUB1B NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu)SNV Conflicting interpretations of pathogenicity 133779 rs141953425 15:40477786-40477786 15:40185585-40185585
13 BUB1B NM_001211.5(BUB1B):c.1746A>C (p.Thr582=)SNV Conflicting interpretations of pathogenicity 465363 rs373105304 15:40498396-40498396 15:40206195-40206195
14 BUB1B NM_001211.5(BUB1B):c.767G>T (p.Arg256Ile)SNV Uncertain significance 533911 rs531786139 15:40477381-40477381 15:40185180-40185180
15 BUB1B NM_001211.5(BUB1B):c.1003G>C (p.Ala335Pro)SNV Uncertain significance 533904 rs145184714 15:40477788-40477788 15:40185587-40185587
16 BUB1B NM_001211.5(BUB1B):c.1628+4C>TSNV Uncertain significance 465362 rs1029721957 15:40494670-40494670 15:40202469-40202469
17 BUB1B NM_001211.5(BUB1B):c.750G>C (p.Lys250Asn)SNV Uncertain significance 465381 rs1440328650 15:40476083-40476083 15:40183882-40183882
18 BUB1B NM_001211.5(BUB1B):c.1288+5G>ASNV Uncertain significance 533898 rs770077868 15:40488980-40488980 15:40196779-40196779
19 BUB1B NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg)SNV Uncertain significance 533909 rs373256667 15:40491888-40491888 15:40199687-40199687
20 BUB1B NM_001211.5(BUB1B):c.1451C>G (p.Ser484Cys)SNV Uncertain significance 533910 rs777814938 15:40492494-40492494 15:40200293-40200293
21 BUB1B NM_001211.5(BUB1B):c.179+5G>ASNV Uncertain significance 533913 rs368869250 15:40457402-40457402 15:40165201-40165201
22 BUB1B NM_001211.5(BUB1B):c.19G>A (p.Glu7Lys)SNV Uncertain significance 533915 rs1218056057 15:40453440-40453440 15:40161239-40161239
23 BUB1B NM_001211.5(BUB1B):c.229G>A (p.Val77Ile)SNV Uncertain significance 533902 rs774353130 15:40462312-40462312 15:40170111-40170111
24 BUB1B NM_001211.5(BUB1B):c.892C>T (p.Pro298Ser)SNV Uncertain significance 533914 rs756759220 15:40477506-40477506 15:40185305-40185305
25 BUB1B NM_001211.5(BUB1B):c.1227A>C (p.Glu409Asp)SNV Uncertain significance 533899 rs28989188 15:40488914-40488914 15:40196713-40196713
26 BUB1B NM_001211.5(BUB1B):c.2762A>T (p.Gln921Leu)SNV Uncertain significance 582237 rs141119531 15:40509780-40509780 15:40217579-40217579
27 BUB1B NM_001211.5(BUB1B):c.3067T>G (p.Phe1023Val)SNV Uncertain significance 577193 rs1566831798 15:40512874-40512874 15:40220673-40220673
28 BUB1B NM_001211.5(BUB1B):c.26G>C (p.Gly9Ala)SNV Uncertain significance 575983 rs768279736 15:40453447-40453447 15:40161246-40161246
29 BUB1B NM_001211.5(BUB1B):c.550G>A (p.Glu184Lys)SNV Uncertain significance 572147 rs145028054 15:40468843-40468843 15:40176642-40176642
30 BUB1B NM_001211.5(BUB1B):c.631G>C (p.Glu211Gln)SNV Uncertain significance 570109 rs1566819827 15:40475964-40475964 15:40183763-40183763
31 BUB1B NM_001211.5(BUB1B):c.895C>G (p.Pro299Ala)SNV Uncertain significance 576127 rs1263513288 15:40477509-40477509 15:40185308-40185308
32 BUB1B NM_001211.5(BUB1B):c.907G>A (p.Ala303Thr)SNV Uncertain significance 565559 rs746825915 15:40477521-40477521 15:40185320-40185320
33 BUB1B NM_001211.5(BUB1B):c.1220T>G (p.Val407Gly)SNV Uncertain significance 576844 rs750703763 15:40488907-40488907 15:40196706-40196706
34 BUB1B NM_001211.5(BUB1B):c.2030G>A (p.Arg677His)SNV Uncertain significance 582609 rs557521971 15:40500858-40500858 15:40208657-40208657
35 BUB1B NM_001211.5(BUB1B):c.2397A>G (p.Gln799=)SNV Uncertain significance 566024 rs754363122 15:40504711-40504711 15:40212510-40212510
36 BUB1B NM_001211.5(BUB1B):c.2752C>T (p.Leu918Phe)SNV Uncertain significance 568063 rs145639700 15:40509770-40509770 15:40217569-40217569
37 BUB1B NC_000015.9:g.(?_40453416)_(40512966_?)dupduplication Uncertain significance 583743 15:40453416-40512966 15:40161215-40220765
38 BUB1B NM_001211.5(BUB1B):c.1032G>A (p.Val344=)SNV Uncertain significance 580410 rs756307061 15:40477817-40477817 15:40185616-40185616
39 BUB1B NM_001211.5(BUB1B):c.1351A>G (p.Lys451Glu)SNV Uncertain significance 582101 rs1566824564 15:40491878-40491878 15:40199677-40199677
40 BUB1B NM_001211.5(BUB1B):c.1919C>T (p.Pro640Leu)SNV Uncertain significance 567797 rs370388424 15:40498569-40498569 15:40206368-40206368
41 BUB1B NM_001211.5(BUB1B):c.1943C>T (p.Thr648Ile)SNV Uncertain significance 578374 rs148348158 15:40498593-40498593 15:40206392-40206392
42 BUB1B NM_001211.5(BUB1B):c.242A>G (p.Tyr81Cys)SNV Uncertain significance 465370 rs1212671249 15:40462740-40462740 15:40170539-40170539
43 BUB1B NM_001211.5(BUB1B):c.1875A>G (p.Ile625Met)SNV Uncertain significance 465364 rs541881263 15:40498525-40498525 15:40206324-40206324
44 BUB1B NM_001211.5(BUB1B):c.2179C>T (p.Arg727Cys)SNV Uncertain significance 465366 rs577591919 15:40501871-40501871 15:40209670-40209670
45 BUB1B NM_001211.5(BUB1B):c.2513A>G (p.Tyr838Cys)SNV Uncertain significance 465372 rs753916523 15:40504827-40504827 15:40212626-40212626
46 BUB1B NM_001211.5(BUB1B):c.581G>A (p.Arg194Gln)SNV Uncertain significance 465380 rs567916146 15:40468874-40468874 15:40176673-40176673
47 BUB1B NM_001211.5(BUB1B):c.2164T>C (p.Trp722Arg)SNV Uncertain significance 465365 rs758664966 15:40501856-40501856 15:40209655-40209655
48 BUB1B NM_001211.5(BUB1B):c.2572A>G (p.Ile858Val)SNV Uncertain significance 465374 rs867416581 15:40505569-40505569 15:40213368-40213368
49 BUB1B NM_001211.5(BUB1B):c.2996G>A (p.Arg999Gln)SNV Uncertain significance 465377 rs377612791 15:40512803-40512803 15:40220602-40220602
50 BUB1B NM_001211.5(BUB1B):c.542A>G (p.Gln181Arg)SNV Uncertain significance 465378 rs375798678 15:40468835-40468835 15:40176634-40176634

Cosmic variations for Mosaic Variegated Aneuploidy Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM151343377 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.77C>G p.S26C 3:41224610-41224610 4

Expression for Mosaic Variegated Aneuploidy Syndrome

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

Pathways for Mosaic Variegated Aneuploidy Syndrome

Pathways related to Mosaic Variegated Aneuploidy Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

GO Terms for Mosaic Variegated Aneuploidy Syndrome

Cellular components related to Mosaic Variegated Aneuploidy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, centromeric region GO:0000775 9.5 BUB3 BUB1B BUB1
2 kinetochore GO:0000776 9.33 BUB3 BUB1B BUB1
3 condensed nuclear chromosome kinetochore GO:0000778 9.26 BUB1B BUB1
4 chromosome GO:0005694 9.26 TRIP13 BUB3 BUB1B BUB1
5 condensed chromosome kinetochore GO:0000777 8.8 BUB3 BUB1B BUB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.65 BUB3 BUB1B BUB1
2 cell division GO:0051301 9.5 BUB3 BUB1B BUB1
3 meiotic cell cycle GO:0051321 9.49 TRIP13 BUB3
4 spermatid development GO:0007286 9.46 TRIP13 CEP57
5 chromosome segregation GO:0007059 9.43 BUB3 BUB1
6 anaphase-promoting complex-dependent catabolic process GO:0031145 9.4 BUB3 BUB1B
7 regulation of mitotic cell cycle phase transition GO:1901990 9.37 BUB3 BUB1B
8 mitotic cell cycle checkpoint GO:0007093 9.26 BUB1B BUB1
9 regulation of chromosome segregation GO:0051983 9.16 BUB3 BUB1
10 mitotic spindle assembly checkpoint GO:0007094 9.02 TRIP13 BUB3 BUB1B-PAK6 BUB1B BUB1
11 meiotic sister chromatid cohesion, centromeric GO:0051754 8.96 BUB1B BUB1

Sources for Mosaic Variegated Aneuploidy Syndrome

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
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