Aliases & Classifications for Nondisjunction

MalaCards integrated aliases for Nondisjunction:

Name: Nondisjunction 57 73
Mosaicism, Chromosomal 57
Mixoploidy, Familial 57

Characteristics:

OMIM:

57
Miscellaneous:
decreased fertility
increased tendency to chromosomal nondisjunction
increased aneuploidy in offspring
inheritance pattern is unclear

Inheritance:
autosomal recessive
autosomal dominant



Classifications:



External Ids:

OMIM 57 158250
MedGen 42 C1834741
SNOMED-CT via HPO 69 263681008 258211005 17276009
UMLS 73 C1834741

Summaries for Nondisjunction

OMIM : 57 Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction. (158250)

MalaCards based summary : Nondisjunction, also known as mosaicism, chromosomal, is related to gastrointestinal stromal tumor and chromosome 15, trisomy mosaicism. An important gene associated with Nondisjunction is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Selenium Micronutrient Network and One carbon pool by folate. The drugs Coenzyme Q10 and Fertility Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and b cells, and related phenotypes are decreased fertility and abnormality of chromosome segregation

Wikipedia : 76 Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during... more...

Related Diseases for Nondisjunction

Diseases related to Nondisjunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 29.8 MTRR MTHFR KIT
2 chromosome 15, trisomy mosaicism 11.2
3 trisomy 17 mosaicism 11.1
4 premature chromatid separation trait 11.0
5 triple x syndrome 11.0
6 49, xxxxx 11.0
7 49, xxxyy syndrome 11.0
8 down syndrome 11.0
9 patau syndrome 10.6
10 mosaic trisomy 8 10.5
11 aging 10.2
12 testicular infarct 10.1 MTHFR KIT
13 leukemia 10.1
14 gastric cardia carcinoma 10.1 MTHFR KIT
15 cardia cancer 10.1 MTRR MTHFR
16 neural tube defects, folate-sensitive 10.1 MTRR MTHFR
17 orofaciodigital syndrome viii 10.1
18 transcobalamin ii deficiency 10.1 MTRR MTHFR
19 homocysteinemia 10.0 MTRR MTHFR
20 angelman syndrome 10.0
21 homocystinuria 10.0 MTRR MTHFR
22 anencephaly 10.0 MTRR MTHFR
23 megaloblastic anemia 10.0 MTRR MTHFR
24 chromosome 10, uniparental disomy 9.9
25 chromosome 16 trisomy 9.9
26 chromosome 20 trisomy 9.9
27 mosaic trisomy 13 9.9
28 mosaic trisomy 14 9.9
29 mosaic trisomy 22 9.9
30 mosaic trisomy 7 9.9
31 mosaic trisomy 9 9.9
32 trisomy 2 mosaicism 9.9
33 monosomy 21 9.9
34 mosaic trisomy 17 9.9
35 mosaic trisomy 1 9.9
36 mosaic trisomy 12 9.9
37 mosaic trisomy 15 9.9
38 monosomy 22 9.9
39 mosaic trisomy 4 9.9
40 mosaic trisomy 5 9.9
41 mosaic trisomy 3 9.9
42 cleft lip 9.9 MTRR MTHFR
43 alzheimer disease 9.9
44 prader-willi syndrome 9.9
45 disorganization, mouse, homolog of 9.9
46 fabry disease 9.9
47 diabetes mellitus, transient neonatal, 1 9.9
48 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.9
49 anxiety 9.9
50 leukemia, acute lymphoblastic 9.9

Graphical network of the top 20 diseases related to Nondisjunction:



Diseases related to Nondisjunction

Symptoms & Phenotypes for Nondisjunction

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
chromosomal mosaicism in cultured cells


Clinical features from OMIM:

158250

Human phenotypes related to Nondisjunction:

32
# Description HPO Frequency HPO Source Accession
1 decreased fertility 32 HP:0000144
2 abnormality of chromosome segregation 32 HP:0002916

Drugs & Therapeutics for Nondisjunction

Drugs for Nondisjunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coenzyme Q10 Approved, Investigational, Nutraceutical Not Applicable 303-98-0 5281915
2 Fertility Agents Not Applicable
3 Ubiquinone Not Applicable
4 Vitamins Not Applicable
5 Micronutrients Not Applicable
6 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization Terminated NCT01048385 Not Applicable

Search NIH Clinical Center for Nondisjunction

Genetic Tests for Nondisjunction

Anatomical Context for Nondisjunction

MalaCards organs/tissues related to Nondisjunction:

41
Testes, Testis, B Cells

Publications for Nondisjunction

Articles related to Nondisjunction:

(show top 50) (show all 338)
# Title Authors Year
1
Genetics, Nondisjunction ( 29489267 )
2018
2
Differentially expressed gene (DEG) based protein-protein interaction (PPI) network identifies a spectrum of gene interactome, transcriptome and correlated miRNA in nondisjunction Down syndrome. ( 30218739 )
2018
3
Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis-II nondisjunction at younger age and without any detectable recombination error. ( 30240118 )
2018
4
Meiotic nondisjunction and sperm aneuploidy in humans ( 30390610 )
2018
5
From the Cover: Does the Assessment of Nondisjunction Provide a More Sensitive Assay for the Detection of Aneugens? ( 28087838 )
2017
6
A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. ( 28680612 )
2017
7
Chromosome nondisjunction during bipolar mitoses of binucleated intermediates promote aneuploidy formation along with multipolar mitoses rather than chromosome loss in micronuclei induced by asbestos. ( 28038458 )
2017
8
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. ( 28770003 )
2017
9
Analysis of B chromosome nondisjunction induced by the r-X1 deficiency in maize. ( 29159670 )
2017
10
True Nondisjunction of Whole Bivalents in Oocytes with Attachment and Congression Defects. ( 28278497 )
2017
11
A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation. ( 28396582 )
2017
12
A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. ( 26747203 )
2016
13
Meiotic Nondisjunction: Insights into the Origin and Significance of Aneuploidy in Human Spermatozoa. ( 26178843 )
2015
14
Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in Turner syndrome. ( 25858821 )
2015
15
Association between telomere length and chromosome 21 nondisjunction in the oocyte. ( 26407969 )
2015
16
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. ( 24926858 )
2014
17
Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation. ( 25086909 )
2014
18
Rec-8 dimorphism affects longevity, stress resistance and X-chromosome nondisjunction in C. elegans, and replicative lifespan in S. cerevisiae. ( 25136348 )
2014
19
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. ( 23401135 )
2013
20
SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome. ( 22931243 )
2012
21
APC(FZR1) prevents nondisjunction in mouse oocytes by controlling meiotic spindle assembly timing. ( 22918942 )
2012
22
Nondisjunction in favor of a chromosome: the mechanism of rye B chromosome drive during pollen mitosis. ( 23104833 )
2012
23
Nondisjunction of a single chromosome leads to breakage and activation of DNA damage checkpoint in G2. ( 22363215 )
2012
24
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. ( 22160426 )
2012
25
polo Is Identified as a Suppressor of bubR1 Nondisjunction in a Deficiency Screen of the Third Chromosome in Drosophila melanogaster. ( 22384328 )
2011
26
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). ( 20673865 )
2010
27
Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth. ( 20063167 )
2010
28
Sporophytic nondisjunction of the maize B chromosome at high copy numbers. ( 20171580 )
2010
29
Statistical analysis of nondisjunction assays in Drosophila. ( 20660647 )
2010
30
Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis. ( 20722466 )
2010
31
Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. ( 19533770 )
2009
32
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. ( 19050929 )
2009
33
Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. ( 19309277 )
2009
34
A strategy for constructing aneuploid yeast strains by transient nondisjunction of a target chromosome. ( 19594932 )
2009
35
Investigation of factors associated with paternal nondisjunction of chromosome 21. ( 19606484 )
2009
36
Aneuploidy in mitosis of PtK1 cells is generated by random loss and nondisjunction of individual chromosomes. ( 19737818 )
2009
37
Evolution from heterozygous to homozygous KIT mutation in gastrointestinal stromal tumor correlates with the mechanism of mitotic nondisjunction and significant tumor progression. ( 18488000 )
2008
38
Trichlorfon-induced polyploidy and nondisjunction in mouse oocytes from preantral follicle culture. ( 18065258 )
2008
39
Acrocentric cryptic translocation associated with nondisjunction of chromosome 21. ( 18074364 )
2008
40
New insights into human nondisjunction of chromosome 21 in oocytes. ( 18369452 )
2008
41
Dissection of rye B chromosomes, and nondisjunction properties of the dissected segments in a common wheat background. ( 18379131 )
2008
42
Aging predisposes oocytes to meiotic nondisjunction when the cohesin subunit SMC1 is reduced. ( 19008956 )
2008
43
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )
2007
44
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. ( 17705154 )
2007
45
Gonosomal mosaicism from deleted Y chromosomal nondisjunction. ( 17192599 )
2007
46
2-methoxyestradiol induces spindle aberrations, chromosome congression failure, and nondisjunction in mouse oocytes. ( 17229934 )
2007
47
Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects. ( 17284771 )
2007
48
Chromosome malorientations after meiosis II arrest cause nondisjunction. ( 17314397 )
2007
49
Centromere function and nondisjunction are independent components of the maize B chromosome accumulation mechanism. ( 17322406 )
2007
50
Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population. ( 17546231 )
2007

Variations for Nondisjunction

Expression for Nondisjunction

Search GEO for disease gene expression data for Nondisjunction.

Pathways for Nondisjunction

GO Terms for Nondisjunction

Biological processes related to Nondisjunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 folic acid metabolic process GO:0046655 9.26 MTHFR MTRR
2 methionine biosynthetic process GO:0009086 9.16 MTHFR MTRR
3 homocysteine metabolic process GO:0050667 8.96 MTHFR MTRR
4 methionine metabolic process GO:0006555 8.62 MTHFR MTRR

Molecular functions related to Nondisjunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.16 MTHFR MTRR
2 NADP binding GO:0050661 8.96 MTHFR MTRR
3 FAD binding GO:0071949 8.62 MTHFR MTRR

Sources for Nondisjunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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