MVA1
MCID: MSC109
MIFTS: 57

Mosaic Variegated Aneuploidy Syndrome 1 (MVA1)

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

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 1

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome 1:

Name: Mosaic Variegated Aneuploidy Syndrome 1 57 12 72 29 13 6 15
Mva Syndrome 57 72
Mva1 57 72
Mosaic Variegated Aneuploidy Syndrome, Type 1 39
Mosaic Variegated Aneuploidy Syndrome 70
Congenital Chromosomal Disease 70
Chromosome Disorders 44

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, )


HPO:

31
mosaic variegated aneuploidy syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome 1

OMIM® : 57 Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. 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 (summary by Hanks et al., 2004). (257300) (Updated 05-Apr-2021)

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 1, also known as mva syndrome, is related to mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome 1 is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B), and among its related pathways/superpathways are Cell Cycle, Mitotic and Signaling by Rho GTPases. The drugs Imatinib Mesylate and Metformin have been mentioned in the context of this disorder. Affiliated tissues include eye and myeloid, and related phenotypes are agenesis of corpus callosum and nystagmus

Disease Ontology : 12 A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has material basis in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.

UniProtKB/Swiss-Prot : 72 Mosaic variegated aneuploidy syndrome 1: 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.

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 2 31.4 CEP57 BUB1B
2 mosaic variegated aneuploidy syndrome 31.1 CEP57 CENPE CDC20 BUB3 BUB1B-PAK6 BUB1B
3 polyploidy 29.0 BUB3 BUB1
4 mosaic variegated aneuploidy syndrome 3 10.9
5 cri-du-chat syndrome 10.7
6 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.7
7 chromosome 18p deletion syndrome 10.7
8 jacobsen syndrome 10.7
9 chromosome 9p deletion syndrome 10.7
10 tracheoesophageal fistula with or without esophageal atresia 10.7
11 chromosome 16p13.3 deletion syndrome, proximal 10.7
12 chromosome 13q14 deletion syndrome 10.7
13 ring chromosome 14 syndrome 10.7
14 selective igm deficiency disease 10.7
15 16q24.3 microdeletion syndrome 10.7
16 chromosome 10p deletion 10.7
17 chromosome 10p duplication 10.7
18 chromosome 10q duplication 10.7
19 chromosome 13q duplication 10.7
20 chromosome 14q deletion 10.7
21 chromosome 16q deletion 10.7
22 chromosome 19p deletion 10.7
23 chromosome 20p deletion 10.7
24 chromosome 22q duplication 10.7
25 chromosome 9p duplication 10.7
26 chromosome 9q deletion 10.7
27 chromosome 9q duplication 10.7
28 distal chromosome 18q deletion syndrome 10.7
29 proximal chromosome 18q deletion syndrome 10.7
30 premature chromatid separation trait 10.1 BUB1B-PAK6 BUB1B
31 microcephaly 10.0
32 chromosomal triplication 10.0
33 down syndrome 10.0
34 patau syndrome 9.9 CEP57 BUB1B
35 autosomal recessive disease 9.9
36 ciliopathy 9.9
37 gonadal dysgenesis 9.8
38 turner syndrome 9.8
39 amenorrhea 9.8
40 measles 9.8
41 learning disability 9.8
42 47,xyy 9.8
43 epidermolytic hyperkeratosis 9.6
44 retinoblastoma 9.6
45 xeroderma pigmentosum, variant type 9.6
46 fragile x syndrome 9.6
47 leukemia, acute lymphoblastic 9.6
48 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.6
49 variola major 9.6
50 scoliosis 9.6

Graphical network of the top 20 diseases related to Mosaic Variegated Aneuploidy Syndrome 1:



Diseases related to Mosaic Variegated Aneuploidy Syndrome 1

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 1

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1:

31 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 nystagmus 31 HP:0000639
3 hydrocephalus 31 HP:0000238
4 short neck 31 HP:0000470
5 cataract 31 HP:0000518
6 depressed nasal bridge 31 HP:0005280
7 hypertelorism 31 HP:0000316
8 short nose 31 HP:0003196
9 microcephaly 31 HP:0000252
10 anteverted nares 31 HP:0000463
11 short stature 31 HP:0004322
12 feeding difficulties in infancy 31 HP:0008872
13 brachycephaly 31 HP:0000248
14 cleft palate 31 HP:0000175
15 cryptorchidism 31 HP:0000028
16 short sternum 31 HP:0000879
17 intrauterine growth retardation 31 HP:0001511
18 postnatal growth retardation 31 HP:0008897
19 micrognathia 31 HP:0000347
20 low-set ears 31 HP:0000369
21 epicanthus 31 HP:0000286
22 upslanted palpebral fissure 31 HP:0000582
23 micropenis 31 HP:0000054
24 bifid scrotum 31 HP:0000048
25 dandy-walker malformation 31 HP:0001305
26 long philtrum 31 HP:0000343
27 ventriculomegaly 31 HP:0002119
28 leukemia 31 HP:0001909
29 rhabdomyosarcoma 31 HP:0002859
30 malar flattening 31 HP:0000272
31 hypospadias 31 HP:0000047
32 high forehead 31 HP:0000348
33 severe global developmental delay 31 HP:0011344
34 midface retrusion 31 HP:0011800
35 ambiguous genitalia 31 HP:0000062
36 cerebellar hypoplasia 31 HP:0001321
37 wide nose 31 HP:0000445
38 nephroblastoma 31 HP:0002667
39 oligohydramnios 31 HP:0001562
40 posteriorly rotated ears 31 HP:0000358
41 intellectual disability, profound 31 HP:0002187
42 renal cyst 31 HP:0000107
43 small for gestational age 31 HP:0001518
44 generalized hypotonia 31 HP:0001290
45 triangular mouth 31 HP:0000207
46 cerebral hypoplasia 31 HP:0006872
47 combined immunodeficiency 31 HP:0005387
48 bilateral tonic-clonic seizure 31 HP:0002069
49 generalized myoclonic seizure 31 HP:0002123
50 premature chromatid separation 31 HP:0200024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
hypertelorism
epicanthal folds
cataracts
upslanting palpebral fissures

Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
triangular shaped mouth

Chest Ribs Sternum Clavicles And Scapulae:
short sternum

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neoplasia:
leukemia
rhabdomyosarcoma
nephroblastoma
wilms tumor
propensity to tumor development

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
renal cysts
wilms tumor

Prenatal Manifestations Delivery:
premature labor

Immunology:
combined immunodeficiency (reported in 1 patient)

Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar hypoplasia
hypodysplasia of the corpus callosum
enlarged ventricles
more
Head And Neck Nose:
depressed nasal bridge
anteverted nares
short, wide nose

Head And Neck Head:
brachycephaly
microcephaly, severe

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
long philtrum
high forehead
midface hypoplasia

Genitourinary External Genitalia Male:
micropenis
bifid scrotum
hypospadias

Genitourinary:
ambiguous genitalia

Abdomen Gastrointestinal:
feeding difficulties

Growth Weight:
low birth weight
low postnatal weight

Growth Other:
growth retardation, prenatal and postnatal

Laboratory Abnormalities:
mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy
more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes
anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

Clinical features from OMIM®:

257300 (Updated 05-Apr-2021)

UMLS symptoms related to Mosaic Variegated Aneuploidy Syndrome 1:


myoclonic seizures

GenomeRNAi Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.56 BUB1 BUB1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.56 BUB1 BUB1B TTK
3 Decreased substrate adherent cell growth GR00193-A-3 9.56 BUB1
4 Decreased substrate adherent cell growth GR00193-A-4 9.56 BUB1 TTK
5 Decreased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor) GR00198-A-2 9.33 BUB1B BUB3 TTK
6 Decreased viability GR00231-A 9.17 CDC20 CENPE
7 Decreased viability GR00249-S 9.17 CDC20 CENPE
8 Decreased viability GR00386-A-1 9.17 CDC20 CENPE
9 Decreased viability GR00402-S-2 9.17 CENPE

MGI Mouse Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 BUB1 BUB1B BUB3 CDC20 CEBPB CENPE
2 mortality/aging MP:0010768 9.93 BUB1 BUB1B BUB3 CDC20 CEBPB CENPE
3 embryo MP:0005380 9.92 BUB1B BUB3 CDC20 CENPE GTF2I HNF4A
4 liver/biliary system MP:0005370 9.73 BUB1 BUB1B CEBPB CENPE HNF4A MYB
5 neoplasm MP:0002006 9.43 BUB1 BUB1B BUB3 CDC20 CEBPB CEP57
6 reproductive system MP:0005389 9.17 BUB1 BUB1B CDC20 CEBPB GTF2I LEF1

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 1

Drugs for Mosaic Variegated Aneuploidy Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Imatinib Mesylate Phase 4 220127-57-1 123596
2
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
3 Hypoglycemic Agents Phase 2, Phase 3
4
Lenalidomide Approved Phase 2 191732-72-6 216326
5
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
6
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
7
Mecasermin Approved, Investigational Phase 2 68562-41-4
8 Angiogenesis Inhibitors Phase 2
9 Immunologic Factors Phase 2
10 Hormone Antagonists Phase 2
11 Hormones Phase 2
12 Antimetabolites Phase 2
13 Pharmaceutical Solutions Phase 2
14 Mitogens Phase 2
15 insulin Phase 2
16 Insulin, Globin Zinc Phase 2
17
Cytarabine Approved, Investigational 147-94-4 6253
18
Nicotinamide Approved, Investigational 98-92-0 936
19
Levoleucovorin Approved, Investigational 68538-85-2 149436
20
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
21
Tocopherol Approved, Investigational 1406-66-2
22
Hydroquinone Approved, Investigational 123-31-9 785
23
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
25
Pantothenic acid Approved, Nutraceutical, Vet_approved 79-83-4 6613
26
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
27
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
28
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
29
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
30
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
31
Cobalamin Experimental 13408-78-1 6857388
32 Tocotrienol Investigational 6829-55-6
33 Chorionic Gonadotropin
34 5-bromouridine
35 bromodeoxyuridine
36 Vitamin B9
37 Trace Elements
38 Nutrients
39 Hematinics
40 Vitamins
41 Micronutrients
42 Folate
43 Vitamin B Complex
44 Ubiquinone
45 Tocopherols
46 Tocotrienols
47 Vitamin B12
48 Vitamin B3
49 Vitamin B 12
50 Nicotinic Acids

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
2 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
3 A Multicenter, Single-arm, Open-label Study of the Efficacy and Safety of Lenalidomide Monotherapy in Red Blood Cell Transfusion-dependent Subjects With Myelodysplastic Syndromes Associated With a Del(5q) Cytogenetic Abnormality. Completed NCT00065156 Phase 2 lenalidomide
4 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Completed NCT02710084 Phase 2 Oxytocin;Saline
5 An Open Label Trial of Growth Hormone in Children and Adolescents With Phelan-McDermid Syndrome Targeting Social Withdrawal Completed NCT04003207 Phase 2 Recombinant human Growth hormone
6 An Open-label Study to Investigate the Safety, Tolerability and Efficacy of a Single 6-hour Intravenous Infusion of AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy Completed NCT03493607 Phase 2 AMO-01
7 Pilot Study of 5 Azacytidine in the Treatment of Myelodysplastic Syndromes/Acute Myeloid Leukaemia With High-risk (Chromosome 7 and or Complex) Cytogenetic Abnormalities Completed NCT00915785 Phase 2 5 azacytidine
8 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
9 A Double-Blind Placebo-Controlled Crossover Trial of Insulin-Like Growth Factor-1 (IGF-1) in Children and Adolescents With 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Recruiting NCT01525901 Phase 2 Insulin-Like Growth Factor-1 (IGF-1);Normal saline
10 National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY) Unknown status NCT00064597
11 Examining the Ability of Electronic Nose in Detecting Fetal Chromosomal Disorders Unknown status NCT02579213
12 First and 2nd Trimester Evaluation of the Risk of Aneuploidy Unknown status NCT00006445
13 Prenatal Screening, Diagnosis and Intrauterine Intervention of Fetal Abnormal Chromosome and Structure in Twins Pregnancy Unknown status NCT02982356 Potassium Chloride
14 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
15 Chromosomal Analysis of Single Cells in Human Embryos Unknown status NCT00614367
16 Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies Unknown status NCT03201666
17 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
18 Role of Cytochrome P450 2D6 (CYP2D6) *4 Polymorphism, Oxidative Stress and Ferretin in Benign and Malignant Breast Diseases Completed NCT00539422
19 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
20 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
21 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Completed NCT01852708
22 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
23 Post-operative Use of Lite Run in a Pediatric Population With Cerebral Palsy Completed NCT03135145
24 Validation of a Noninvasive Chromosome Screening (NICS) Method Using the Culture Medium Completed NCT03879265
25 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
26 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
27 Evaluation of Efficacy of Counseling for Prenatal Screening and Diagnostic Tests on Pregnant Women's Decisional Conflict, Being Sure of the Decision, Anxiety Levels and Attitudes Towards the Tests: A Randomised Controlled Clinical Study Completed NCT03825978
28 Prospective Non-selection Study to Investigate the Clinical Predictive Value of Chromosome Copy Number Values Consistent With the Presence of Mosaicism Within the Trophectoderm Biopsy (NON-SELECTION MOSAICISM) Completed NCT03673592
29 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Completed NCT03426059
30 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
31 Genomic Instability Associated With Chronic Long Term Exposure to Ionizing Radiation in Vascular Surgeons Completed NCT04363190
32 Utilizing Free DNA in Embryo Culture Media for Preimplantation Genetic Screening Completed NCT02884063
33 Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test Completed NCT01426308
34 Randomized Controlled Trial (RCT) of Preimplantation Genetic Screening (PGS) in Women of Advanced Maternal Age (AMA) Completed NCT00795795
35 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
36 Turner Syndrome Minipuberty Study A Prospective, Descriptive Cohortstudy Recruiting NCT04189406
37 Risk-stratified Therapy Based on Molecular and Cytogenetic Aberration and Treatment Response in Acute Myeloid Leukemia Recruiting NCT03620955
38 A Prospective, Observational, Multi-center, International Study to Validate a Non-invasive Preimplantation Genetic Test for Embryo Aneuploidy in the Spent Culture Media (niPGT-A). Recruiting NCT03520933
39 Ultrasensitive Chromosomal Aneuploidy Detection (UCAD) in Urine Exfoliated Cells for Diagnosis of Urothelial Carcinoma in in Urine Exfoliated Cells Recruiting NCT03998371
40 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Recruiting NCT02461420
41 Diagnosis and Management of Intrauterine Growth Restriction, Structural Anomalies and Chromosomal Anomalies: A Prospective Cohort Study Recruiting NCT03398629
42 Randomized Controlled Clinical Study to Assess the Benefit of Non-invasive PGT-A, by the Analysis of Spent Blastocyst Media, as a Tool for Embryo Prioritization in Infertile Patients Undergoing Assisted Reproduction. Recruiting NCT04000152
43 The Value of Prenatal Ultrasound in the Diagnosis and Monitoring of Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies of Twin Active, not recruiting NCT02732717
44 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
45 Randomized, Placebo-controlled, Cross-over, Double-blind Study of a Metabolic Support Therapy With Q10 Ubiquinol and a Multivitamin B and E Complex in Two Cohorts of Patients With Idiopathic and Syndromic Autism (Phelan-McDermid Syndrome) Enrolling by invitation NCT04312152
46 A Multicenter Clinical Study on Embryo Selection by Using the Ploidy of Cell Free DNA in Embryo Culture Medium Not yet recruiting NCT04339166
47 Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome: a Pilot Study Terminated NCT00691574

Search NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome 1

Cochrane evidence based reviews: chromosome disorders

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 1

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 1:

# Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 1 29 BUB1B

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 1

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome 1:

40
Eye, Myeloid

Publications for Mosaic Variegated Aneuploidy Syndrome 1

Articles related to Mosaic Variegated Aneuploidy Syndrome 1:

(show all 28)
# Title Authors PMID Year
1
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. 6 57
21190457 2010
2
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. 57 6
16411201 2006
3
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 57 6
15475955 2004
4
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. 57 6
11169558 2001
5
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. 57 6
9916837 1999
6
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. 57
16059936 2005
7
Premature chromatid separation (PCS) vs. premature centromere division (PCD). 57
15098246 2004
8
Association of nonsyndromic Wilms tumor with premature centromere division (PCD). 57
12244559 2002
9
High risk of malignancy in mosaic variegated aneuploidy syndrome. 57
11932988 2002
10
Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants. 57
11746029 2001
11
Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. 57
10877982 2000
12
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature. 57
10429359 1999
13
Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. 57
9677059 1998
14
Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review. 57
9450856 1998
15
A possible mosaic form of delayed centromere separation and aneuploidy. 57
1740325 1992
16
Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant? 57
1809239 1991
17
Mitotic disturbance associated with mosaic aneuploidies. 57
2307459 1990
18
Evidence for a human mitotic mutant with pleiotropic effect. 57
2596830 1989
19
Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant? 57
3169747 1988
20
Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism. 57
2989151 1985
21
Bilateral cystic nephroblastomas and botryoid sarcoma involving vagina and urinary bladder in a child with microcephaly, arhinencephaly, and bilateral cataracts. 57
6268275 1981
22
Non-random centromere division: a mechanism of non-disjunction causing aneuploidy? 57
149087 1978
23
Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome. 61
31053147 2019
24
Genome-Wide Transcription Study of Cryptococcus neoformans H99 Clinical Strain versus Environmental Strains. 61
26360021 2015
25
Establishment of a novel anabolism-based addiction system with an artificially introduced mevalonate pathway: complete stabilization of plasmids as universal application in white biotechnology. 61
19558962 2009
26
Genotyping of cytochrome P450 2D6*3 and *4 mutations using conventional PCR. 61
11412814 2001
27
[Cleavage of concatamer-type substrates by restriction endonucleases MVA1 and SSO1I]. 61
1883910 1991
28
[The clinical importance of magnesium during neonatal life (author's transl)]. 61
1269892 1976

Variations for Mosaic Variegated Aneuploidy Syndrome 1

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

6 (show top 50) (show all 334)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BUB1B NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) SNV Pathogenic 6760 rs28989186 GRCh37: 15:40468873-40468873
GRCh38: 15:40176672-40176672
2 BUB1B NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) SNV Pathogenic 6761 rs28989181 GRCh37: 15:40504844-40504844
GRCh38: 15:40212643-40212643
3 BUB1B NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738fs) Duplication Pathogenic 6763 rs1392909108 GRCh37: 15:40501898-40501899
GRCh38: 15:40209697-40209698
4 BUB1B NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) SNV Pathogenic 6764 rs28989182 GRCh37: 15:40504755-40504755
GRCh38: 15:40212554-40212554
5 BUB1B NM_001211.5(BUB1B):c.1402-1G>T SNV Pathogenic 6767 rs1566824774 GRCh37: 15:40492444-40492444
GRCh38: 15:40200243-40200243
6 BUB1B NM_001211.5(BUB1B):c.1833del (p.Phe611fs) Deletion Pathogenic 6768 rs1566826570 GRCh37: 15:40498481-40498481
GRCh38: 15:40206280-40206280
7 BUB1B NM_001211.5(BUB1B):c.1402-5A>G SNV Pathogenic 6769 rs1566824771 GRCh37: 15:40492440-40492440
GRCh38: 15:40200239-40200239
8 BUB1B NM_001211.5(BUB1B):c.2386-11A>G SNV Pathogenic 30279 rs751421137 GRCh37: 15:40504689-40504689
GRCh38: 15:40212488-40212488
9 BUB1B NM_001211.5(BUB1B):c.2308C>T (p.Arg770Ter) SNV Pathogenic 403749 rs750364303 GRCh37: 15:40502334-40502334
GRCh38: 15:40210133-40210133
10 CEP57 NM_014679.5(CEP57):c.724del (p.Arg242fs) Deletion Pathogenic 431798 rs1555052278 GRCh37: 11:95555059-95555059
GRCh38: 11:95821895-95821895
11 BUB1B NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter) SNV Pathogenic 434546 rs769350713 GRCh37: 15:40462838-40462838
GRCh38: 15:40170637-40170637
12 BUB1B NM_001211.5(BUB1B):c.2210T>G (p.Leu737Ter) SNV Pathogenic 533901 rs759242053 GRCh37: 15:40501902-40501902
GRCh38: 15:40209701-40209701
13 BUB1B NM_001211.5(BUB1B):c.2316C>G (p.Tyr772Ter) SNV Pathogenic 639058 rs1595533765 GRCh37: 15:40502342-40502342
GRCh38: 15:40210141-40210141
14 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) Duplication Pathogenic 30691 rs1166323407 GRCh37: 11:95560979-95560989
GRCh38: 11:95827811-95827812
15 BUB1B NM_001211.5(BUB1B):c.1954C>T (p.Gln652Ter) SNV Pathogenic 581252 rs1401171363 GRCh37: 15:40498604-40498604
GRCh38: 15:40206403-40206403
16 BUB1B NM_001211.6(BUB1B):c.2566del (p.His856fs) Deletion Pathogenic 958852 GRCh37: 15:40505561-40505561
GRCh38: 15:40213360-40213360
17 BUB1B NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter) SNV Pathogenic 959090 GRCh37: 15:40504792-40504792
GRCh38: 15:40212591-40212591
18 BUB1B NM_001211.5(BUB1B):c.1387A>T (p.Arg463Ter) SNV Pathogenic 572796 rs1566824608 GRCh37: 15:40491914-40491914
GRCh38: 15:40199713-40199713
19 BUB1B NM_001211.6(BUB1B):c.709_712del (p.Thr237fs) Deletion Pathogenic 849777 GRCh37: 15:40476040-40476043
GRCh38: 15:40183839-40183842
20 BUB1B NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter) SNV Pathogenic 851299 GRCh37: 15:40462856-40462856
GRCh38: 15:40170655-40170655
21 BUB1B NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter) SNV Pathogenic 854842 GRCh37: 15:40477539-40477539
GRCh38: 15:40185338-40185338
22 BUB1B , BUB1B-PAK6 NM_001128628.2(BUB1B-PAK6):c.-201+2974T>C SNV Pathogenic 6765 rs28989185 GRCh37: 15:40512842-40512842
GRCh38: 15:40220641-40220641
23 BUB1B NM_001211.6(BUB1B):c.1327C>T (p.Gln443Ter) SNV Pathogenic 1030303 GRCh37: 15:40491854-40491854
GRCh38: 15:40199653-40199653
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.578del (p.His193fs) Deletion Pathogenic 947291 GRCh37: 15:40468871-40468871
GRCh38: 15:40176670-40176670
27 BUB1B NM_001211.5(BUB1B):c.1648C>T (p.Arg550Ter) SNV Pathogenic 438799 rs767213728 GRCh37: 15:40494809-40494809
GRCh38: 15:40202608-40202608
28 BUB1B NM_001211.6(BUB1B):c.967-2A>T SNV Likely pathogenic 863360 GRCh37: 15:40477750-40477750
GRCh38: 15:40185549-40185549
29 BUB1B NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr) SNV Uncertain significance 938610 GRCh37: 15:40477788-40477788
GRCh38: 15:40185587-40185587
30 BUB1B NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe) SNV Uncertain significance 861174 GRCh37: 15:40457265-40457265
GRCh38: 15:40165064-40165064
31 BUB1B NM_001211.6(BUB1B):c.2144-5G>A SNV Uncertain significance 952506 GRCh37: 15:40501831-40501831
GRCh38: 15:40209630-40209630
32 BUB1B NM_001211.6(BUB1B):c.466A>G (p.Ile156Val) SNV Uncertain significance 943044 GRCh37: 15:40468759-40468759
GRCh38: 15:40176558-40176558
33 BUB1B NM_001211.6(BUB1B):c.1533G>A (p.Ala511=) SNV Uncertain significance 946099 GRCh37: 15:40493147-40493147
GRCh38: 15:40200946-40200946
34 BUB1B NM_001211.5(BUB1B):c.1943C>T (p.Thr648Ile) SNV Uncertain significance 578374 rs148348158 GRCh37: 15:40498593-40498593
GRCh38: 15:40206392-40206392
35 BUB1B NM_001211.5(BUB1B):c.1943C>T (p.Thr648Ile) SNV Uncertain significance 578374 rs148348158 GRCh37: 15:40498593-40498593
GRCh38: 15:40206392-40206392
36 BUB1B NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly) SNV Uncertain significance 1030304 GRCh37: 15:40477471-40477471
GRCh38: 15:40185270-40185270
37 BUB1B , BUB1B-PAK6 NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly) SNV Uncertain significance 1034718 GRCh37: 15:40512827-40512827
GRCh38: 15:40220626-40220626
38 BUB1B NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys) SNV Uncertain significance 1035539 GRCh37: 15:40462317-40462317
GRCh38: 15:40170116-40170116
39 BUB1B , BUB1B-PAK6 NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala) SNV Uncertain significance 1036336 GRCh37: 15:40512883-40512883
GRCh38: 15:40220682-40220682
40 BUB1B NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp) SNV Uncertain significance 1036995 GRCh37: 15:40457272-40457272
GRCh38: 15:40165071-40165071
41 BUB1B NM_001211.6(BUB1B):c.1213G>T (p.Ala405Ser) SNV Uncertain significance 1037714 GRCh37: 15:40488900-40488900
GRCh38: 15:40196699-40196699
42 BUB1B NM_001211.6(BUB1B):c.1391C>T (p.Thr464Ile) SNV Uncertain significance 1038745 GRCh37: 15:40491918-40491918
GRCh38: 15:40199717-40199717
43 BUB1B NM_001211.6(BUB1B):c.874G>A (p.Val292Ile) SNV Uncertain significance 1038920 GRCh37: 15:40477488-40477488
GRCh38: 15:40185287-40185287
44 BUB1B NM_001211.6(BUB1B):c.1734T>G (p.Cys578Trp) SNV Uncertain significance 1041215 GRCh37: 15:40494895-40494895
GRCh38: 15:40202694-40202694
45 BUB1B NM_001211.6(BUB1B):c.2dup (p.Met1fs) Duplication Uncertain significance 1042564 GRCh37: 15:40453422-40453423
GRCh38: 15:40161221-40161222
46 BUB1B NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg) SNV Uncertain significance 1045130 GRCh37: 15:40457343-40457343
GRCh38: 15:40165142-40165142
47 BUB1B NM_001211.6(BUB1B):c.1123G>A (p.Glu375Lys) SNV Uncertain significance 1045225 GRCh37: 15:40488810-40488810
GRCh38: 15:40196609-40196609
48 BUB1B NM_001211.6(BUB1B):c.2143+5_2143+6insT Insertion Uncertain significance 1045927 GRCh37: 15:40500976-40500977
GRCh38: 15:40208775-40208776
49 BUB1B NM_001211.6(BUB1B):c.966G>A (p.Arg322=) SNV Uncertain significance 1046803 GRCh37: 15:40477580-40477580
GRCh38: 15:40185379-40185379
50 BUB1B , BUB1B-PAK6 NM_001128628.2(BUB1B-PAK6):c.-201+804A>G SNV Uncertain significance 403752 rs775844666 GRCh37: 15:40510672-40510672
GRCh38: 15:40218471-40218471

UniProtKB/Swiss-Prot genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 BUB1B p.Arg550Gln VAR_028923 rs28989187
2 BUB1B p.Arg814His VAR_028924 rs28989182
3 BUB1B p.Leu844Phe VAR_028925 rs28989181
4 BUB1B p.Ile909Thr VAR_028926 rs28989184
5 BUB1B p.Gln921His VAR_028927 rs28989183
6 BUB1B p.Leu1012Pro VAR_028928 rs28989185

Expression for Mosaic Variegated Aneuploidy Syndrome 1

Search GEO for disease gene expression data for Mosaic Variegated Aneuploidy Syndrome 1.

Pathways for Mosaic Variegated Aneuploidy Syndrome 1

Pathways related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 CEP57 CENPE CDC20 BUB3 BUB1B BUB1
2
Show member pathways
12.69 CENPE CDC20 BUB3 BUB1B BUB1
3
Show member pathways
12.49 CENPE CDC20 BUB3 BUB1B BUB1
4
Show member pathways
12.25 CENPE CDC20 BUB3 BUB1B BUB1
5 12.13 TTK CENPE CDC20 BUB3 BUB1B
6 12.01 CDC20 BUB3 BUB1B
7 11.91 TTK CDC20 BUB3 BUB1B BUB1
8
Show member pathways
11.67 CDC20 BUB3 BUB1B
9 11.47 MYB LEF1 CEBPB
10 11.15 HNF4A CEBPB
11 10.99 CDC20 BUB3 BUB1B BUB1
12
Show member pathways
10.64 CENPE CDC20 BUB1B BUB1

GO Terms for Mosaic Variegated Aneuploidy Syndrome 1

Cellular components related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.11 TTK MYB LEF1 HNF4A GTF2I CEP57
2 nucleoplasm GO:0005654 9.97 MYB LEF1 HNF4A GTF2I CENPE CEBPB
3 chromosome GO:0005694 9.78 CENPE BUB3 BUB1B BUB1
4 spindle GO:0005819 9.56 TTK CENPE CDC20 BUB1B
5 condensed chromosome, centromeric region GO:0000779 9.46 CENPE CEBPB
6 chromosome, centromeric region GO:0000775 9.46 CENPE BUB3 BUB1B BUB1
7 anaphase-promoting complex GO:0005680 9.43 CDC20 BUB1B
8 condensed nuclear chromosome kinetochore GO:0000778 9.4 BUB1B BUB1
9 condensed chromosome kinetochore GO:0000777 9.26 CENPE BUB3 BUB1B BUB1
10 kinetochore GO:0000776 9.02 TTK CENPE BUB3 BUB1B BUB1

Biological processes related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 MYB LEF1 HNF4A GTF2I CEBPB
2 negative regulation of transcription, DNA-templated GO:0045892 9.83 MYB LEF1 HNF4A CEBPB
3 cell cycle GO:0007049 9.83 CENPE CDC20 BUB3 BUB1B BUB1
4 mitotic cell cycle GO:0000278 9.67 MYB CENPE BUB1B
5 cell division GO:0051301 9.65 CENPE CDC20 BUB3 BUB1B BUB1
6 anaphase-promoting complex-dependent catabolic process GO:0031145 9.58 CDC20 BUB3 BUB1B
7 regulation of mitotic cell cycle phase transition GO:1901990 9.54 CDC20 BUB3 BUB1B
8 regulation of chromosome segregation GO:0051983 9.48 BUB3 BUB1
9 protein localization to kinetochore GO:0034501 9.46 TTK BUB3
10 chromosome segregation GO:0007059 9.46 TTK CENPE BUB3 BUB1
11 meiotic sister chromatid cohesion, centromeric GO:0051754 9.32 BUB1B BUB1
12 mitotic cell cycle checkpoint GO:0007093 9.13 TTK BUB1B BUB1
13 mitotic spindle assembly checkpoint GO:0007094 9.1 TTK CDC20 BUB3 BUB1B-PAK6 BUB1B BUB1

Molecular functions related to Mosaic Variegated Aneuploidy Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 MYB LEF1 HNF4A GTF2I CEBPB
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 LEF1 HNF4A CEBPB
3 histone deacetylase binding GO:0042826 9.33 LEF1 CEBPB CDC20
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.02 MYB LEF1 HNF4A GTF2I CEBPB
5 kinetochore binding GO:0043515 8.96 TTK CENPE

Sources for Mosaic Variegated Aneuploidy Syndrome 1

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
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57 OMIM® (Updated 05-Apr-2021)
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