MVA1
MCID: MSC109
MIFTS: 56

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 56 12 73 29 13 6 15
Mva Syndrome 56 73
Mva1 56 73
Mosaic Variegated Aneuploidy Syndrome, Type 1 39
Mosaic Variegated Aneuploidy Syndrome 71
Congenital Chromosomal Disease 71
Chromosome Disorders 43

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 1, also known as mva syndrome, is related to mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 2, 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 Lovastatin and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and myeloid, and related phenotypes are cataract and depressed nasal bridge

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 : 73 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 151)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 32.7 CEP57 BUB3 BUB1B-PAK6 BUB1B BUB1
2 mosaic variegated aneuploidy syndrome 2 32.1 CEP57 BUB1B
3 patau syndrome 31.6 CEP57 BUB1B
4 sex chromosome disorder of sex development 12.1
5 chromosomal disease 11.3
6 mosaic variegated aneuploidy syndrome 3 11.3
7 48, xxxx 11.0
8 down syndrome 11.0
9 turner syndrome 10.9
10 mixed gonadal dysgenesis 10.9
11 tetrasomy 18p 10.9
12 ring chromosome 20 10.9
13 triploidy 10.9
14 jacobsen syndrome 10.7
15 emanuel syndrome 10.7
16 trisomy 22 10.7
17 cri-du-chat syndrome 10.6
18 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.6
19 chromosome 18p deletion syndrome 10.6
20 chromosome 9p deletion syndrome 10.6
21 recombinant chromosome 8 syndrome 10.6
22 tracheoesophageal fistula with or without esophageal atresia 10.6
23 orofaciodigital syndrome viii 10.6
24 phelan-mcdermid syndrome 10.6
25 chromosome 1p36 deletion syndrome 10.6
26 chromosome 3q29 deletion syndrome 10.6
27 chromosome 16p13.3 deletion syndrome, proximal 10.6
28 chromosome 13q14 deletion syndrome 10.6
29 ring chromosome 14 syndrome 10.6
30 selective igm deficiency disease 10.6
31 oligomeganephronia 10.6
32 mbd5 haploinsufficiency 10.6
33 15q13.3 microduplication syndrome 10.6
34 16q24.3 microdeletion syndrome 10.6
35 chromosome 10p deletion 10.6
36 chromosome 10p duplication 10.6
37 chromosome 10q duplication 10.6
38 chromosome 13q duplication 10.6
39 chromosome 14q deletion 10.6
40 chromosome 16q deletion 10.6
41 chromosome 19p deletion 10.6
42 chromosome 20p deletion 10.6
43 chromosome 22q duplication 10.6
44 chromosome 9p duplication 10.6
45 chromosome 9q deletion 10.6
46 chromosome 9q duplication 10.6
47 distal chromosome 18q deletion syndrome 10.6
48 mosaic trisomy 14 10.6
49 mosaic trisomy 22 10.6
50 proximal chromosome 18q deletion syndrome 10.6

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 cataract 31 HP:0000518
2 depressed nasal bridge 31 HP:0005280
3 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
5 short nose 31 HP:0003196
6 hydrocephalus 31 HP:0000238
7 microcephaly 31 HP:0000252
8 anteverted nares 31 HP:0000463
9 short stature 31 HP:0004322
10 feeding difficulties in infancy 31 HP:0008872
11 brachycephaly 31 HP:0000248
12 nystagmus 31 HP:0000639
13 cleft palate 31 HP:0000175
14 cryptorchidism 31 HP:0000028
15 short sternum 31 HP:0000879
16 intrauterine growth retardation 31 HP:0001511
17 postnatal growth retardation 31 HP:0008897
18 micrognathia 31 HP:0000347
19 low-set ears 31 HP:0000369
20 epicanthus 31 HP:0000286
21 upslanted palpebral fissure 31 HP:0000582
22 micropenis 31 HP:0000054
23 bifid scrotum 31 HP:0000048
24 dandy-walker malformation 31 HP:0001305
25 long philtrum 31 HP:0000343
26 ventriculomegaly 31 HP:0002119
27 leukemia 31 HP:0001909
28 rhabdomyosarcoma 31 HP:0002859
29 malar flattening 31 HP:0000272
30 hypospadias 31 HP:0000047
31 high forehead 31 HP:0000348
32 agenesis of corpus callosum 31 HP:0001274
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:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares
short, wide nose

Head And Neck Neck:
short neck

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

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

Genitourinary Kidneys:
renal cysts
wilms tumor

Prenatal Manifestations Delivery:
premature labor

Immunology:
combined immunodeficiency (reported in 1 patient)

Head And Neck Eyes:
hypertelorism
nystagmus
epicanthal folds
cataracts
upslanting palpebral fissures

Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar hypoplasia
hypodysplasia of the corpus callosum
enlarged ventricles
more
Head And Neck Head:
brachycephaly
microcephaly, severe

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

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

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 9.23 BUB1 BUB1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.23 BUB1 BUB1B TTK
3 Decreased substrate adherent cell growth GR00193-A-3 9.23 BUB1
4 Decreased substrate adherent cell growth GR00193-A-4 9.23 BUB1 TTK
5 Decreased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor) GR00198-A-2 9.13 BUB1B BUB3 TTK

MGI Mouse Phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 BUB1 BUB1B BUB3 CDC20 CEBPB CENPE
2 growth/size/body region MP:0005378 10.02 BUB1 BUB1B BUB3 CDC20 CEBPB GTF2I
3 embryo MP:0005380 9.97 BUB1B BUB3 CDC20 CENPE GTF2I HNF4A
4 mortality/aging MP:0010768 9.93 BUB1 BUB1B BUB3 CDC20 CEBPB CENPE
5 liver/biliary system MP:0005370 9.73 BUB1 BUB1B CEBPB CENPE HNF4A MYB
6 neoplasm MP:0002006 9.43 BUB1 BUB1B BUB3 CDC20 CEBPB CEP57
7 reproductive system MP:0005389 9.28 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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
2 Antimetabolites Phase 4
3 Dihydromevinolin Phase 4
4 Hypolipidemic Agents Phase 4
5 Lipid Regulating Agents Phase 4
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
7 Anticholesteremic Agents Phase 4
8 L 647318 Phase 4
9 Imatinib Mesylate Phase 4 220127-57-1 123596
10
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
11 Hypoglycemic Agents Phase 2, Phase 3
12
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
13
Lenalidomide Approved Phase 2 191732-72-6 216326
14
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
15
Ketamine Approved, Vet_approved Phase 1, Phase 2 6740-88-1 3821
16
Mecasermin Approved, Investigational Phase 2 68562-41-4
17 Angiogenesis Inhibitors Phase 2
18 Immunologic Factors Phase 2
19 Hormone Antagonists Phase 2
20 Hormones Phase 2
21 Pharmaceutical Solutions Phase 2
22 Anesthetics Phase 1, Phase 2
23 Excitatory Amino Acid Antagonists Phase 1, Phase 2
24 Anesthetics, Dissociative Phase 1, Phase 2
25 Anesthetics, General Phase 1, Phase 2
26 Analgesics Phase 1, Phase 2
27 Anesthetics, Intravenous Phase 1, Phase 2
28 Neurotransmitter Agents Phase 1, Phase 2
29 Insulin, Globin Zinc Phase 2
30 Mitogens Phase 2
31 insulin Phase 2
32
Cytarabine Approved, Experimental, Investigational 147-94-4, 65-46-3 6253
33
leucovorin Approved 58-05-9 6006 143
34
Nicotinamide Approved, Investigational 98-92-0 936
35
Hydroquinone Approved, Investigational 123-31-9 785
36
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
37
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
38
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
40
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
41
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
42
Pantothenic acid Approved, Nutraceutical, Vet_approved 79-83-4 6613
43
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
44
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
45
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
46
Cobalamin Experimental 13408-78-1 6857388
47 Tocotrienol Investigational 6829-55-6
48 Chorionic Gonadotropin
49 5-bromouridine
50 bromodeoxyuridine

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
2 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
3 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
4 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
5 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
6 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
7 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Recruiting NCT02710084 Phase 2 Oxytocin;Saline
8 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
9 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 Recruiting NCT03493607 Phase 2 AMO-01
10 A Phase 2A Open-Label Study Evaluating the Safety and Efficacy of Low-Dose Ketamine in Children With ADNP Syndrome Recruiting NCT04388774 Phase 1, Phase 2 Ketamine
11 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
12 Chromosomal Analysis of Single Cells in Human Embryos Unknown status NCT00614367
13 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
14 Prenatal Screening, Diagnosis and Intrauterine Intervention of Fetal Abnormal Chromosome and Structure in Twins Pregnancy Unknown status NCT02982356 Potassium Chloride
15 National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY) Unknown status NCT00064597
16 Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies Unknown status NCT03201666
17 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
18 Examining the Ability of Electronic Nose in Detecting Fetal Chromosomal Disorders Unknown status NCT02579213
19 The Value of Prenatal Ultrasound in the Diagnosis and Monitoring of Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies of Twin Unknown status NCT02732717
20 First and 2nd Trimester Evaluation of the Risk of Aneuploidy Unknown status NCT00006445
21 Non-Invasive Chromosomal Evaluation of Trisomy Study Completed NCT02201862
22 Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test Completed NCT01426308
23 Role of Cytochrome P450 2D6 (CYP2D6) *4 Polymorphism, Oxidative Stress and Ferretin in Benign and Malignant Breast Diseases Completed NCT00539422
24 Utilizing Free DNA in Embryo Culture Media for Preimplantation Genetic Screening Completed NCT02884063
25 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
26 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
27 Randomized Controlled Trial (RCT) of Preimplantation Genetic Screening (PGS) in Women of Advanced Maternal Age (AMA) Completed NCT00795795
28 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
29 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
30 Genomic Instability Associated With Chronic Long Term Exposure to Ionizing Radiation in Vascular Surgeons Completed NCT04363190
31 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
32 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
33 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
34 Validation of a Noninvasive Chromosome Screening (NICS) Method Using the Culture Medium Recruiting NCT03879265
35 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
36 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Recruiting NCT02461420
37 Ultrasensitive Chromosomal Aneuploidy Detection (UCAD) in Urine Exfoliated Cells for Diagnosis of Urothelial Carcinoma in in Urine Exfoliated Cells Recruiting NCT03998371
38 Diagnosis and Management of Intrauterine Growth Restriction, Structural Anomalies and Chromosomal Anomalies: A Prospective Cohort Study Recruiting NCT03398629
39 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
40 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) Recruiting NCT03673592
41 Risk-stratified Therapy Based on Molecular and Cytogenetic Aberration and Treatment Response in Acute Myeloid Leukemia Recruiting NCT03620955
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 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
44 Post-operative Use of Lite Run in a Pediatric Population With Cerebral Palsy Recruiting NCT03135145
45 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Active, not recruiting NCT03426059
46 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
47 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
48 Turner Syndrome Minipuberty Study A Prospective, Descriptive Cohortstudy Not yet recruiting NCT04189406
49 A Multicenter Clinical Study on Embryo Selection by Using the Ploidy of Cell Free DNA in Embryo Culture Medium Not yet recruiting NCT04339166
50 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, Testes, Myeloid, Breast

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. 56 6
21190457 2010
2
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. 56 6
16411201 2006
3
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 6 56
15475955 2004
4
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. 56 6
11169558 2001
5
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. 6 56
9916837 1999
6
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. 56
16059936 2005
7
Premature chromatid separation (PCS) vs. premature centromere division (PCD). 56
15098246 2004
8
Association of nonsyndromic Wilms tumor with premature centromere division (PCD). 56
12244559 2002
9
High risk of malignancy in mosaic variegated aneuploidy syndrome. 56
11932988 2002
10
Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants. 56
11746029 2001
11
Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. 56
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. 56
10429359 1999
13
Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. 56
9677059 1998
14
Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review. 56
9450856 1998
15
A possible mosaic form of delayed centromere separation and aneuploidy. 56
1740325 1992
16
Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant? 56
1809239 1991
17
Mitotic disturbance associated with mosaic aneuploidies. 56
2307459 1990
18
Evidence for a human mitotic mutant with pleiotropic effect. 56
2596830 1989
19
Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant? 56
3169747 1988
20
Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism. 56
2989151 1985
21
Bilateral cystic nephroblastomas and botryoid sarcoma involving vagina and urinary bladder in a child with microcephaly, arhinencephaly, and bilateral cataracts. 56
6268275 1981
22
Non-random centromere division: a mechanism of non-disjunction causing aneuploidy? 56
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 all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BUB1B NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter)SNV Pathogenic 434546 rs769350713 15:40462838-40462838 15:40170637-40170637
2 BUB1B NM_001211.5(BUB1B):c.1648C>T (p.Arg550Ter)SNV Pathogenic 438799 rs767213728 15:40494809-40494809 15:40202608-40202608
3 BUB1B NM_001211.5(BUB1B):c.2308C>T (p.Arg770Ter)SNV Pathogenic 403749 rs750364303 15:40502334-40502334 15:40210133-40210133
4 BUB1B NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter)SNV Pathogenic 6760 rs28989186 15:40468873-40468873 15:40176672-40176672
5 BUB1B NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738fs)duplication Pathogenic 6763 rs1392909108 15:40501898-40501899 15:40209697-40209698
6 BUB1B NM_001211.5(BUB1B):c.1402-1G>TSNV Pathogenic 6767 rs1566824774 15:40492444-40492444 15:40200243-40200243
7 BUB1B NM_001211.5(BUB1B):c.1833del (p.Phe611fs)deletion Pathogenic 6768 rs1566826570 15:40498481-40498481 15:40206280-40206280
8 BUB1B NM_001211.5(BUB1B):c.1402-5A>GSNV Pathogenic 6769 rs1566824771 15:40492440-40492440 15:40200239-40200239
9 BUB1B NM_001211.5(BUB1B):c.2386-11A>GSNV Pathogenic 30279 rs751421137 15:40504689-40504689 15:40212488-40212488
10 CEP57 NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)duplication Pathogenic 30691 rs1166323407 11:95560979-95560989 11:95827811-95827812
11 BUB1B NM_001128628.2(BUB1B-PAK6):c.-201+2974T>CSNV Pathogenic 6765 rs28989185 15:40512842-40512842 15:40220641-40220641
12 BUB1B NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp)SNV Conflicting interpretations of pathogenicity 133777 rs148159407 15:40477419-40477419 15:40185218-40185218
13 BUB1B NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu)SNV Conflicting interpretations of pathogenicity 133779 rs141953425 15:40477786-40477786 15:40185585-40185585
14 BUB1B NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser)SNV Uncertain significance 238662 rs138332995 15:40494791-40494791 15:40202590-40202590
15 BUB1B NM_001211.5(BUB1B):c.2405C>T (p.Pro802Leu)SNV Uncertain significance 238664 rs878854277 15:40504719-40504719 15:40212518-40212518
16 BUB1B NM_001211.5(BUB1B):c.2729T>A (p.Val910Glu)SNV Uncertain significance 238665 rs747000103 15:40509747-40509747 15:40217546-40217546
17 BUB1B NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile)SNV Uncertain significance 133767 rs146795655 15:40492521-40492521 15:40200320-40200320
18 BUB1B NM_001211.5(BUB1B):c.2441G>A (p.Arg814His)SNV Uncertain significance 6764 rs28989182 15:40504755-40504755 15:40212554-40212554
19 BUB1B NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe)SNV Uncertain significance 6761 rs28989181 15:40504844-40504844 15:40212643-40212643
20 BUB1B NM_001211.5(BUB1B):c.2763G>C (p.Gln921His)SNV Uncertain significance 6762 rs28989183 15:40509781-40509781 15:40217580-40217580
21 BUB1B NM_001211.5(BUB1B):c.2866A>G (p.Ile956Val)SNV Uncertain significance 403752 rs775844666 15:40510672-40510672 15:40218471-40218471
22 BUB1B NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg)SNV Uncertain significance 533909 rs373256667 15:40491888-40491888 15:40199687-40199687
23 BUB1B NM_001211.5(BUB1B):c.737G>A (p.Gly246Glu)SNV Uncertain significance 533905 rs1407334063 15:40476070-40476070 15:40183869-40183869
24 BUB1B NM_001211.5(BUB1B):c.1079C>G (p.Pro360Arg)SNV Uncertain significance 403740 rs1060499942 15:40488766-40488766 15:40196565-40196565
25 BUB1B NM_001211.5(BUB1B):c.1617_1619GAA[1] (p.Lys540del)short repeat Uncertain significance 403754 rs587778141 15:40494653-40494655 15:40202452-40202454
26 BUB1B NM_001211.5(BUB1B):c.2979G>T (p.Trp993Cys)SNV Uncertain significance 403747 rs1060499945 15:40512786-40512786 15:40220585-40220585
27 BUB1B NM_001211.5(BUB1B):c.2414T>C (p.Phe805Ser)SNV Uncertain significance 403756 rs1060499948 15:40504728-40504728 15:40212527-40212527
28 BUB1B NM_001211.5(BUB1B):c.2801A>G (p.Gln934Arg)SNV Uncertain significance 403744 rs781299320 15:40509819-40509819 15:40217618-40217618
29 BUB1B NM_001211.5(BUB1B):c.273A>T (p.Gln91His)SNV Uncertain significance 403753 rs751056896 15:40462771-40462771 15:40170570-40170570
30 BUB1B NM_001211.5(BUB1B):c.605G>A (p.Arg202Gln)SNV Uncertain significance 403755 rs768417752 15:40475938-40475938 15:40183737-40183737
31 BUB1B NM_001211.5(BUB1B):c.1442A>C (p.Gln481Pro)SNV Uncertain significance 403746 rs1060499944 15:40492485-40492485 15:40200284-40200284
32 BUB1B NM_001211.5(BUB1B):c.1453G>A (p.Glu485Lys)SNV Uncertain significance 403748 rs770704003 15:40492496-40492496 15:40200295-40200295
33 BUB1B NM_001211.6(BUB1B):c.585A>G (p.Gln195=)SNV Likely benign 803065 15:40475918-40475918 15:40183717-40183717
34 BUB1B NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln)SNV Benign/Likely benign 6766 rs28989187 15:40494810-40494810 15:40202609-40202609
35 BUB1B NM_001211.6(BUB1B):c.2679-97A>GSNV Benign 803066 15:40509600-40509600 15:40217399-40217399
36 BUB1B NM_001211.5(BUB1B):c.119C>T (p.Thr40Met)SNV Benign 6758 rs56079734 15:40457337-40457337 15:40165136-40165136
37 BUB1B NM_001211.6(BUB1B):c.385-2460_385-2453dupduplication Benign 803064 15:40466217-40466218 15:40174016-40174017

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

73
# 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

GO Terms for Mosaic Variegated Aneuploidy Syndrome 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.18 TTK NFIC MYB LEF1 HNF4A GTF2I
2 nucleoplasm GO:0005654 9.96 NFIC MYB LEF1 HNF4A GTF2I CENPE
3 chromosome GO:0005694 9.8 CENPE BUB3 BUB1B BUB1
4 microtubule organizing center GO:0005815 9.76 PCNT CEP57 CDC20 BUB1B
5 spindle GO:0005819 9.62 TTK CENPE CDC20 BUB1B
6 anaphase-promoting complex GO:0005680 9.48 CDC20 BUB1B
7 chromosome, centromeric region GO:0000775 9.46 CENPE BUB3 BUB1B BUB1
8 condensed nuclear chromosome kinetochore GO:0000778 9.43 BUB1B BUB1
9 condensed chromosome, centromeric region GO:0000779 9.37 CENPE CEBPB
10 condensed chromosome kinetochore GO:0000777 9.26 CENPE BUB3 BUB1B BUB1
11 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 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.02 NFIC MYB LEF1 HNF4A GTF2I CEBPB
2 cell cycle GO:0007049 9.92 CENPE CDC20 BUB3 BUB1B BUB1
3 negative regulation of transcription, DNA-templated GO:0045892 9.85 NFIC MYB LEF1 HNF4A CEBPB
4 transcription by RNA polymerase II GO:0006366 9.78 NFIC LEF1 GTF2I CEBPB
5 mitotic cell cycle GO:0000278 9.71 MYB CENPE BUB1B
6 cell division GO:0051301 9.65 CENPE CDC20 BUB3 BUB1B BUB1
7 anaphase-promoting complex-dependent catabolic process GO:0031145 9.61 CDC20 BUB3 BUB1B
8 regulation of mitotic cell cycle phase transition GO:1901990 9.58 CDC20 BUB3 BUB1B
9 regulation of chromosome segregation GO:0051983 9.51 BUB3 BUB1
10 mitotic spindle organization GO:0007052 9.5 TTK PCNT CENPE
11 protein localization to kinetochore GO:0034501 9.49 TTK BUB3
12 meiotic sister chromatid cohesion, centromeric GO:0051754 9.37 BUB1B BUB1
13 mitotic cell cycle checkpoint GO:0007093 9.33 TTK BUB1B BUB1
14 chromosome segregation GO:0007059 9.26 TTK CENPE BUB3 BUB1
15 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 9.77 NFIC MYB LEF1 HNF4A CEBPB
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 NFIC MYB LEF1 HNF4A CEBPB
3 DNA-binding transcription factor activity GO:0003700 9.63 NFIC MYB LEF1 HNF4A GTF2I CEBPB
4 histone deacetylase binding GO:0042826 9.5 LEF1 CEBPB CDC20
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.02 NFIC MYB LEF1 HNF4A CEBPB
6 kinetochore binding GO:0043515 8.96 TTK CENPE

Sources for Mosaic Variegated Aneuploidy Syndrome 1

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