MCID: MSC022
MIFTS: 51

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 20 43 58 36 29 6 15 39 70
Warburton-Anyane-Yeboa Syndrome 20 43 58 6
Mva Syndrome 20 43
Mosaic Variegated Aneuplody Microcephaly Syndrome 43
Warburton Anyane Yeboa Syndrome 70

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

MedlinePlus Genetics : 43 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 Mitotic Prometaphase. Affiliated tissues include eye, cerebellum and colon, 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.

GARD : 20 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

Diseases in the Mosaic Variegated Aneuploidy Syndrome family:

Mosaic Variegated Aneuploidy Syndrome 1 Mosaic Variegated Aneuploidy Syndrome 2
Mosaic Variegated Aneuploidy Syndrome 3

Diseases related to Mosaic Variegated Aneuploidy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 2 33.6 TRIP13 CEP57 BUB1B
2 mosaic variegated aneuploidy syndrome 1 33.3 CEP57 CDC20 BUB3 BUB1B-PAK6 BUB1B BUB1
3 mosaic variegated aneuploidy syndrome 3 12.0
4 microcephaly 10.6
5 rhabdomyosarcoma 10.5
6 autosomal recessive disease 10.4
7 hypotonia 10.3
8 polyploidy 10.3 BUB3 BUB1
9 premature chromatid separation trait 10.3 BUB1B-PAK6 BUB1B
10 polyposis syndrome, hereditary mixed, 1 10.3 CDC20 BUB1B BUB1
11 joubert syndrome 23 10.2 KIF24 CNTLN CEP97
12 cone-rod dystrophy 20 10.2 KIF24 CEP97
13 wilms tumor 1 10.2
14 premature centromere division 10.2
15 leukemia, acute lymphoblastic 10.2
16 myelodysplastic syndrome 10.2
17 west syndrome 10.2
18 scoliosis 10.2
19 polycystic ovary syndrome 10.2
20 pancytopenia 10.2
21 embryonal rhabdomyosarcoma 10.2
22 learning disability 10.2
23 wilms tumor predisposition 10.2
24 chromosomal triplication 10.2
25 orofaciodigital syndrome i 10.2 PIFO KIF24 CEP97
26 primary autosomal recessive microcephaly 10.1 TUBGCP6 CNTLN CEP57 BUB1B BUB1
27 joubert syndrome 5 10.1 KIF24 CEP97
28 patau syndrome 10.1 CEP57 BUB1B
29 joubert syndrome 1 10.0 PIFO KIF24 CNTLN CEP97 CEP57
30 ciliopathy 9.9

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 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
19 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
23 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
24 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
25 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
26 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
27 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
28 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
29 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
30 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
31 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
32 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
33 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
34 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
35 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
36 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
37 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
38 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
39 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
40 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
41 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
42 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
43 intestinal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200008
44 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
45 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
46 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
47 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
48 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
49 acute lymphoblastic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006721
50 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247

UMLS symptoms related to Mosaic Variegated Aneuploidy Syndrome:


myoclonic seizures

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, Cerebellum, Colon, Kidney, Lung, Heart, Ovary

Publications for Mosaic Variegated Aneuploidy Syndrome

Articles related to Mosaic Variegated Aneuploidy Syndrome:

(show all 30)
# Title Authors PMID Year
1
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. 61 20 6
24259107 2014
2
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 6 61
21552266 2011
3
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. 61 6
21190457 2010
4
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome. 61 20
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. 20
25696020 2015
12
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. 61
32861809 2020
13
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? 61
31943948 2020
14
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
15
Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy. 61
31184400 2019
16
Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome. 61
31053147 2019
17
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
18
The Cep57-pericentrin module organizes PCM expansion and centriole engagement. 61
30804344 2019
19
[Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome]. 61
30512160 2018
20
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. 61
30147898 2018
21
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. 61
30035751 2018
22
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. 61
29448935 2018
23
Age-related decline in BubR1 impairs adult hippocampal neurogenesis. 61
28383136 2017
24
Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome? 61
27931980 2017
25
PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene. 61
28611924 2017
26
p21 both attenuates and drives senescence and aging in BubR1 progeroid mice. 61
23602569 2013
27
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. 61
16182441 2006
28
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. 61
16059936 2005
29
High risk of malignancy in mosaic variegated aneuploidy syndrome. 61
12567425 2003
30
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 480)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BUB1B NM_001211.5(BUB1B):c.1402-1G>T SNV Pathogenic 6767 rs1566824774 GRCh37: 15:40492444-40492444
GRCh38: 15:40200243-40200243
2 BUB1B NM_001211.5(BUB1B):c.1833del (p.Phe611fs) Deletion Pathogenic 6768 rs1566826570 GRCh37: 15:40498481-40498481
GRCh38: 15:40206280-40206280
3 BUB1B NM_001211.5(BUB1B):c.1402-5A>G SNV Pathogenic 6769 rs1566824771 GRCh37: 15:40492440-40492440
GRCh38: 15:40200239-40200239
4 BUB1B NM_001211.5(BUB1B):c.2386-11A>G SNV Pathogenic 30279 rs751421137 GRCh37: 15:40504689-40504689
GRCh38: 15:40212488-40212488
5 CEP57 NM_014679.5(CEP57):c.518_519GA[1] (p.Glu174fs) Microsatellite Pathogenic 30690 rs1565326373 GRCh37: 11:95550963-95550964
GRCh38: 11:95817799-95817800
6 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) Duplication Pathogenic 30691 rs1166323407 GRCh37: 11:95560979-95560989
GRCh38: 11:95827811-95827812
7 CEP57 NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) SNV Pathogenic 30692 rs387906977 GRCh37: 11:95546134-95546134
GRCh38: 11:95812970-95812970
8 BUB1B NM_001211.5(BUB1B):c.2308C>T (p.Arg770Ter) SNV Pathogenic 403749 rs750364303 GRCh37: 15:40502334-40502334
GRCh38: 15:40210133-40210133
9 CEP57 NM_014679.5(CEP57):c.724del (p.Arg242fs) Deletion Pathogenic 431798 rs1555052278 GRCh37: 11:95555059-95555059
GRCh38: 11:95821895-95821895
10 BUB1B NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter) SNV Pathogenic 434546 rs769350713 GRCh37: 15:40462838-40462838
GRCh38: 15:40170637-40170637
11 BUB1B NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) SNV Pathogenic 6764 rs28989182 GRCh37: 15:40504755-40504755
GRCh38: 15:40212554-40212554
12 BUB1B NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738fs) Duplication Pathogenic 6763 rs1392909108 GRCh37: 15:40501898-40501899
GRCh38: 15:40209697-40209698
13 BUB1B NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) SNV Pathogenic 6761 rs28989181 GRCh37: 15:40504844-40504844
GRCh38: 15:40212643-40212643
14 BUB1B NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) SNV Pathogenic 6760 rs28989186 GRCh37: 15:40468873-40468873
GRCh38: 15:40176672-40176672
15 BUB1B NM_001211.5(BUB1B):c.2210T>G (p.Leu737Ter) SNV Pathogenic 533901 rs759242053 GRCh37: 15:40501902-40501902
GRCh38: 15:40209701-40209701
16 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) Duplication Pathogenic 30691 rs1166323407 GRCh37: 11:95560979-95560989
GRCh38: 11:95827811-95827812
17 BUB1B NM_001211.5(BUB1B):c.1387A>T (p.Arg463Ter) SNV Pathogenic 572796 rs1566824608 GRCh37: 15:40491914-40491914
GRCh38: 15:40199713-40199713
18 CEP57 NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) SNV Pathogenic 643769 rs771182933 GRCh37: 11:95546700-95546700
GRCh38: 11:95813536-95813536
19 BUB1B NM_001211.5(BUB1B):c.1954C>T (p.Gln652Ter) SNV Pathogenic 581252 rs1401171363 GRCh37: 15:40498604-40498604
GRCh38: 15:40206403-40206403
20 BUB1B NM_001211.5(BUB1B):c.2316C>G (p.Tyr772Ter) SNV Pathogenic 639058 rs1595533765 GRCh37: 15:40502342-40502342
GRCh38: 15:40210141-40210141
21 BUB1B NM_001211.6(BUB1B):c.709_712del (p.Thr237fs) Deletion Pathogenic 849777 GRCh37: 15:40476040-40476043
GRCh38: 15:40183839-40183842
22 BUB1B NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter) SNV Pathogenic 851299 GRCh37: 15:40462856-40462856
GRCh38: 15:40170655-40170655
23 BUB1B NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter) SNV Pathogenic 854842 GRCh37: 15:40477539-40477539
GRCh38: 15:40185338-40185338
24 BUB1B NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter) SNV Pathogenic 434546 rs769350713 GRCh37: 15:40462838-40462838
GRCh38: 15:40170637-40170637
25 BUB1B NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter) SNV Pathogenic 939671 GRCh37: 15:40475928-40475928
GRCh38: 15:40183727-40183727
26 BUB1B NM_001211.6(BUB1B):c.2566del (p.His856fs) Deletion Pathogenic 958852 GRCh37: 15:40505561-40505561
GRCh38: 15:40213360-40213360
27 BUB1B NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter) SNV Pathogenic 959090 GRCh37: 15:40504792-40504792
GRCh38: 15:40212591-40212591
28 BUB1B , BUB1B-PAK6 NM_001128628.2(BUB1B-PAK6):c.-201+2974T>C SNV Pathogenic 6765 rs28989185 GRCh37: 15:40512842-40512842
GRCh38: 15:40220641-40220641
29 CEP57 NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter) SNV Pathogenic 1030345 GRCh37: 11:95561079-95561079
GRCh38: 11:95827915-95827915
30 BUB1B NM_001211.6(BUB1B):c.578del (p.His193fs) Deletion Pathogenic 947291 GRCh37: 15:40468871-40468871
GRCh38: 15:40176670-40176670
31 CEP57 NM_014679.5(CEP57):c.382+2T>C SNV Pathogenic 977798 GRCh37: 11:95546277-95546277
GRCh38: 11:95813113-95813113
32 CEP57 NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) SNV Pathogenic 936628 GRCh37: 11:95555113-95555113
GRCh38: 11:95821949-95821949
33 BUB1B NM_001211.5(BUB1B):c.1648C>T (p.Arg550Ter) SNV Pathogenic 438799 rs767213728 GRCh37: 15:40494809-40494809
GRCh38: 15:40202608-40202608
34 BUB1B NM_001211.6(BUB1B):c.1327C>T (p.Gln443Ter) SNV Pathogenic 1030303 GRCh37: 15:40491854-40491854
GRCh38: 15:40199653-40199653
35 CEP57 NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) Deletion Likely pathogenic 638495 rs1590962541 GRCh37: 11:95564319-95564319
GRCh38: 11:95831155-95831155
36 BUB1B NM_001211.6(BUB1B):c.967-2A>T SNV Likely pathogenic 863360 GRCh37: 15:40477750-40477750
GRCh38: 15:40185549-40185549
37 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
38 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
39 BUB1B NM_001211.5(BUB1B):c.242A>G (p.Tyr81Cys) SNV Uncertain significance 465370 rs1212671249 GRCh37: 15:40462740-40462740
GRCh38: 15:40170539-40170539
40 CEP57 NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) SNV Uncertain significance 472257 rs149196489 GRCh37: 11:95546671-95546671
GRCh38: 11:95813507-95813507
41 BUB1B NM_001211.5(BUB1B):c.1220T>G (p.Val407Gly) SNV Uncertain significance 576844 rs750703763 GRCh37: 15:40488907-40488907
GRCh38: 15:40196706-40196706
42 BUB1B , BUB1B-PAK6 NM_001128628.2(BUB1B-PAK6):c.-201+3006T>G SNV Uncertain significance 577193 rs1566831798 GRCh37: 15:40512874-40512874
GRCh38: 15:40220673-40220673
43 BUB1B NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) SNV Uncertain significance 133767 rs146795655 GRCh37: 15:40492521-40492521
GRCh38: 15:40200320-40200320
44 CEP57 NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) SNV Uncertain significance 640663 rs755140070 GRCh37: 11:95552039-95552039
GRCh38: 11:95818875-95818875
45 BUB1B NM_001211.5(BUB1B):c.2389T>G (p.Ser797Ala) SNV Uncertain significance 650681 rs150707631 GRCh37: 15:40504703-40504703
GRCh38: 15:40212502-40212502
46 BUB1B NM_001211.5(BUB1B):c.922C>G (p.Leu308Val) SNV Uncertain significance 654088 rs781357180 GRCh37: 15:40477536-40477536
GRCh38: 15:40185335-40185335
47 CEP57 NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) SNV Uncertain significance 664204 rs146538238 GRCh37: 11:95564320-95564320
GRCh38: 11:95831156-95831156
48 BUB1B , BUB1B-PAK6 NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr) SNV Uncertain significance 840075 GRCh37: 15:40509852-40509852
GRCh38: 15:40217651-40217651
49 BUB1B NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys) SNV Uncertain significance 840920 GRCh37: 15:40468757-40468757
GRCh38: 15:40176556-40176556
50 BUB1B NM_001211.6(BUB1B):c.868C>A (p.Pro290Thr) SNV Uncertain significance 842245 GRCh37: 15:40477482-40477482
GRCh38: 15:40185281-40185281

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:

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# 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 microtubule GO:0005874 9.71 TUBGCP6 SNTB2 KIF24 CEP57
2 centrosome GO:0005813 9.65 TUBGCP6 CNTLN CEP97 CEP57 CDC20
3 chromosome, centromeric region GO:0000775 9.63 BUB3 BUB1B BUB1
4 kinetochore GO:0000776 9.54 BUB3 BUB1B BUB1
5 condensed chromosome kinetochore GO:0000777 9.5 BUB3 BUB1B BUB1
6 anaphase-promoting complex GO:0005680 9.43 CDC20 BUB1B
7 microtubule organizing center GO:0005815 9.35 TUBGCP6 CEP97 CEP57 CDC20 BUB1B
8 cytoskeleton GO:0005856 9.28 TUBGCP6 SPAG16 SNTB2 KIF24 CNTLN CEP97
9 condensed nuclear chromosome kinetochore GO:0000778 9.16 BUB1B BUB1

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.78 CDC20 BUB3 BUB1B BUB1
2 meiotic cell cycle GO:0051321 9.63 TUBGCP6 TRIP13 BUB3
3 ciliary basal body-plasma membrane docking GO:0097711 9.58 KIF24 CEP97 CEP57
4 anaphase-promoting complex-dependent catabolic process GO:0031145 9.5 CDC20 BUB3 BUB1B
5 cell projection organization GO:0030030 9.46 SPAG16 PIFO KIF24 CEP97
6 mitotic cell cycle checkpoint GO:0007093 9.43 BUB1B BUB1
7 regulation of mitotic cell cycle phase transition GO:1901990 9.43 CDC20 BUB3 BUB1B
8 regulation of chromosome segregation GO:0051983 9.37 BUB3 BUB1
9 mitotic spindle assembly checkpoint GO:0007094 9.1 TRIP13 CDC20 BUB3 BUB1B-PAK6 BUB1B BUB1
10 meiotic sister chromatid cohesion, centromeric GO:0051754 8.96 BUB1B BUB1

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

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.8 TUBGCP6 PIFO CEP57

Sources for Mosaic Variegated Aneuploidy Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
29 GTR
30 HMDB
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36 KEGG
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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