Aliases & Classifications for Nondisjunction

MalaCards integrated aliases for Nondisjunction:

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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



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 premature chromatid separation trait and triple x syndrome. An important gene associated with Nondisjunction is GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1), and among its related pathways/superpathways are Folate Metabolism and One carbon pool by folate. The drugs Coenzyme Q10 and Fertility Agents have been mentioned in the context of this disorder. 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 53)
# Related Disease Score Top Affiliating Genes
1 premature chromatid separation trait 10.9
2 triple x syndrome 10.9
3 49, xxxxx 10.9
4 49, xxxyy syndrome 10.9
5 down syndrome 10.7
6 testicular infarct 10.3 KIT MTHFR
7 neural tube defects, folate-sensitive 10.3 MTHFR MTRR
8 gastrointestinal system benign neoplasm 10.3 KIT MTHFR
9 transcobalamin ii deficiency 10.2 MTHFR MTRR
10 homocysteinemia 10.2 MTHFR MTRR
11 aging 10.2
12 anencephaly 10.1 MTHFR MTRR
13 cleft lip/palate 10.1 MTHFR MTRR
14 homocystinuria 10.0 MTHFR MTRR
15 angelman syndrome 9.9
16 47, xxy 9.9
17 orofaciodigital syndrome viii 9.9
18 patau syndrome 9.9
19 megaloblastic anemia 9.9 MTHFR MTRR
20 fabry disease 9.8
21 diabetes mellitus, transient neonatal, 1 9.8
22 gastrointestinal stromal tumor 9.8
23 tetrasomy 18p 9.8
24 diabetes mellitus 9.8
25 neonatal diabetes mellitus 9.8
26 teratoma 9.8
27 turner syndrome 9.8
28 ovarian germ cell teratoma 9.8
29 48,xyyy 9.8
30 chromosome 18p tetrasomy 9.8
31 tetraploidy 9.8
32 triploidy 9.8
33 trisomy 22 9.8
34 chromosome 10, uniparental disomy 9.8
35 chromosome 16 trisomy 9.8
36 chromosome 20 trisomy 9.8
37 mosaic trisomy 13 9.8
38 mosaic trisomy 14 9.8
39 mosaic trisomy 22 9.8
40 mosaic trisomy 7 9.8
41 mosaic trisomy 8 9.8
42 mosaic trisomy 9 9.8
43 trisomy 2 mosaicism 9.8
44 monosomy 21 9.8
45 mosaic trisomy 17 9.8
46 mosaic trisomy 1 9.8
47 mosaic trisomy 12 9.8
48 mosaic trisomy 15 9.8
49 monosomy 22 9.8
50 mosaic trisomy 4 9.8

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 Micronutrients Not Applicable
4 Trace Elements Not Applicable
5 Ubiquinone Not Applicable
6 Vitamins 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

Publications for Nondisjunction

Articles related to Nondisjunction:

(show top 50) (show all 68)
# Title Authors Year
1
Genetics, Nondisjunction ( 29489267 )
2018
2
From the Cover: Does the Assessment of Nondisjunction Provide a More Sensitive Assay for the Detection of Aneugens? ( 28087838 )
2017
3
A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. ( 28680612 )
2017
4
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
5
Mosaic chromosome Y loss and testicular germ cell tumor risk. ( 28275244 )
2017
6
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. ( 28770003 )
2017
7
Analysis of B chromosome nondisjunction induced by the r-X1 deficiency in maize. ( 29159670 )
2017
8
True Nondisjunction of Whole Bivalents in Oocytes with Attachment and Congression Defects. ( 28278497 )
2017
9
A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation. ( 28396582 )
2017
10
A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. ( 26747203 )
2016
11
Meiotic Nondisjunction: Insights into the Origin and Significance of Aneuploidy in Human Spermatozoa. ( 26178843 )
2015
12
Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in Turner syndrome. ( 25858821 )
2015
13
Association between telomere length and chromosome 21 nondisjunction in the oocyte. ( 26407969 )
2015
14
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. ( 24926858 )
2014
15
Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation. ( 25086909 )
2014
16
Rec-8 dimorphism affects longevity, stress resistance and X-chromosome nondisjunction in C. elegans, and replicative lifespan in S. cerevisiae. ( 25136348 )
2014
17
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. ( 23401135 )
2013
18
Mosaic Chromosome 18q Partial Deletion Syndrome with Bilateral Full-thickness Corneal Disease: Surgical Intervention and Histopathology. ( 24024746 )
2013
19
SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome. ( 22931243 )
2012
20
APC(FZR1) prevents nondisjunction in mouse oocytes by controlling meiotic spindle assembly timing. ( 22918942 )
2012
21
Nondisjunction in favor of a chromosome: the mechanism of rye B chromosome drive during pollen mitosis. ( 23104833 )
2012
22
Nondisjunction of a single chromosome leads to breakage and activation of DNA damage checkpoint in G2. ( 22363215 )
2012
23
polo Is Identified as a Suppressor of bubR1 Nondisjunction in a Deficiency Screen of the Third Chromosome in Drosophila melanogaster. ( 22384328 )
2011
24
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). ( 20673865 )
2010
25
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. ( 19960447 )
2010
26
Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. ( 19533770 )
2009
27
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
28
Evolution from heterozygous to homozygous KIT mutation in gastrointestinal stromal tumor correlates with the mechanism of mitotic nondisjunction and significant tumor progression. ( 18488000 )
2008
29
Trichlorfon-induced polyploidy and nondisjunction in mouse oocytes from preantral follicle culture. ( 18065258 )
2008
30
Mental retardation and developmental delay due to mosaic chromosome 14q duplication. ( 19077851 )
2008
31
Dissection of rye B chromosomes, and nondisjunction properties of the dissected segments in a common wheat background. ( 18379131 )
2008
32
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )
2007
33
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. ( 17705154 )
2007
34
Mosaic chromosome 6 trisomy in an epidermal nevus. ( 17461811 )
2007
35
Cell biology: nondisjunction, aneuploidy and tetraploidy. ( 16915240 )
2006
36
SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction. ( 16258540 )
2005
37
Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. ( 15319376 )
2004
38
Early conjectures that Down syndrome is caused by chromosomal nondisjunction. ( 12486916 )
2002
39
Mosaic chromosomal aberrations in synovial fibroblasts of patients with rheumatoid arthritis, osteoarthritis, and other inflammatory joint diseases. ( 11549374 )
2001
40
Maternal folate polymorphisms and the etiology of human nondisjunction. ( 11443546 )
2001
41
Sex-ratio meiotic drive in Drosophila simulans is related to equational nondisjunction of the Y chromosome. ( 10628983 )
2000
42
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. ( 10733242 )
2000
43
Colchicine effects on meiosis in the male mouse. II. Inhibition of synapsis and induction of nondisjunction. ( 10434026 )
1999
44
[Frequency of sex chromosome nondisjunction as affected by microtubule destabilization and heat shock in various lines of Drosophila melanogaster]. ( 10519067 )
1999
45
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. ( 10450868 )
1999
46
Chromosomal drive and the evolution of meiotic nondisjunction and trisomy in humans. ( 9482890 )
1998
47
Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome. ( 9639654 )
1998
48
Tetrasomy 18p caused by paternal meiotic nondisjunction. ( 9272743 )
1997
49
Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. ( 7887421 )
1995
50
[A comparison of the characteristics of chromosome nondisjunction in the first maturation division of mouse oocytes heterozygous for balanced structural rearrangements of the chromosomes]. ( 7941016 )
1994

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 9.16 MTHFR MTRR
2 homocysteine metabolic process GO:0050667 8.96 MTHFR MTRR
3 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 8.96 MTHFR MTRR
2 NADP binding GO:0050661 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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