Aliases & Classifications for Nondisjunction

MalaCards integrated aliases for Nondisjunction:

Name: Nondisjunction 57 29 70
Mosaicism, Chromosomal 57
Mixoploidy, Familial 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 41 C1834741
SNOMED-CT via HPO 68 17276009 258211005 263681008
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Nondisjunction, also known as mosaicism, chromosomal, is related to down syndrome and male infertility. An important gene associated with Nondisjunction is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Selenium Micronutrient Network and One carbon pool by folate. Affiliated tissues include bone marrow, heart and eye, and related phenotypes are decreased fertility and abnormality of chromosome segregation

Wikipedia : 73 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 89)
# Related Disease Score Top Affiliating Genes
1 down syndrome 31.0 MTRR MTHFR GART
2 male infertility 29.4 MTRR MTHFR KIT
3 premature chromatid separation trait 10.9
4 triple x syndrome 10.9
5 49, xxxxx 10.9
6 49, xxxyy syndrome 10.9
7 chromosomal triplication 10.7
8 47,xyy 10.3
9 patau syndrome 10.3
10 mosaic trisomy 8 10.2
11 angelman syndrome 10.1
12 methotrexate toxicity 10.1 MTRR MTHFR
13 vitamin metabolic disorder 10.1 MTRR MTHFR
14 neural tube defects, folate-sensitive 10.1 MTRR MTHFR
15 cardia cancer 10.1 MTRR MTHFR
16 vitamin b12 deficiency 10.1 MTRR MTHFR
17 myelomeningocele 10.1 MTRR MTHFR
18 prader-willi syndrome 10.0
19 infertility 10.0
20 placental abruption 10.0 MTRR MTHFR
21 cleft lip/palate 10.0 MTRR MTHFR
22 amino acid metabolic disorder 10.0 MTRR MTHFR
23 anencephaly 10.0 MTRR MTHFR
24 homocysteinemia 10.0 MTRR MTHFR
25 chromosomal duplication syndrome 10.0 MTRR MTHFR
26 tetrasomy 18p 10.0
27 gonadal dysgenesis 10.0
28 tetraploidy 10.0
29 triploidy 10.0
30 trisomy 22 10.0
31 maternal uniparental disomy 10.0
32 paternal uniparental disomy 10.0
33 orofaciodigital syndrome viii 10.0
34 total autosomal monosomy 10.0
35 autosomal monosomy 10.0
36 methylmalonic acidemia 9.9 MTRR MTHFR
37 megaloblastic anemia 9.9 MTRR MTHFR
38 physical disorder 9.9 MTRR MTHFR
39 alzheimer disease 9.8
40 cat eye syndrome 9.8
41 silver-russell syndrome 1 9.8
42 androgen insensitivity syndrome 9.8
43 fabry disease 9.8
44 atrioventricular septal defect 9.8
45 gastrointestinal stromal tumor 9.8
46 leukemia, acute lymphoblastic 9.8
47 supernumerary der(22)t(8;22) syndrome 9.8
48 smith-mccort dysplasia 2 9.8
49 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
50 transient neonatal diabetes mellitus 9.8

Graphical network of the top 20 diseases related to Nondisjunction:



Diseases related to Nondisjunction

Symptoms & Phenotypes for Nondisjunction

Human phenotypes related to Nondisjunction:

31
# Description HPO Frequency HPO Source Accession
1 decreased fertility 31 HP:0000144
2 abnormality of chromosome segregation 31 HP:0002916

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
chromosomal mosaicism in cultured cells

Clinical features from OMIM®:

158250 (Updated 20-May-2021)

Drugs & Therapeutics for Nondisjunction

Search Clinical Trials , NIH Clinical Center for Nondisjunction

Genetic Tests for Nondisjunction

Genetic tests related to Nondisjunction:

# Genetic test Affiliating Genes
1 Nondisjunction 29

Anatomical Context for Nondisjunction

MalaCards organs/tissues related to Nondisjunction:

40
Bone Marrow, Heart, Eye, Lung, Bone, Kidney, Myeloid

Publications for Nondisjunction

Articles related to Nondisjunction:

(show top 50) (show all 1387)
# Title Authors PMID Year
1
Trisomy recurrence: a reconsideration based on North American data. 61 57
15248154 2004
2
Frequency of consanguineous marriages among parents and grandparents of Down patients. 61 57
3160646 1985
3
Evidence for genetic control of nondisjunction in man. 57 61
6446853 1980
4
Familial sex chromosomal mosaicism. 57
2240034 1990
5
The genetic basis of non-disjunction: increased incidence of hyperploidy in oocytes from F1 hybrid mice. 57
6642508 1983
6
Familial sex chromosome mosaicism (yes) and interchromosomal effects (no) 57
7460385 1981
7
The genetic control of meiosis. 57
797314 1976
8
Familial aneuploidy: what risk to sibs? 57
4407165 1974
9
Distributive pairing in man? 57
4999793 1971
10
Sex chromosome mosaicism in 3 sibs. Clinical and pathologic aspects. 57
4392643 1970
11
The presence of Turner's syndrome with 45,X karyotype in two generations. 57
5764188 1969
12
Satellite association (SA) in familial mosaicism. 57
5997618 1966
13
Satellite association and translocation mongolism. 57
4226331 1966
14
THE NONRANDOMNESS OF CHROMOSOMAL ABNORMALITIES. ASSOCIATION OF TRISOMY 18 AND DOWN'S SYNDROME. 57
14211000 1964
15
Mongolism. 57
13734151 1961
16
The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte. 61
33750944 2021
17
Focal Spinal Nondisjunction in Primary Neurulation : Limited Dorsal Myeloschisis and Congenital Spinal Dermal Sinus Tract. 61
33715322 2021
18
Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21. 61
33784681 2021
19
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21. 61
33596328 2021
20
Chemical and optical control of CRISPR-associated nucleases. 61
33253976 2021
21
Prolonged mitosis causes separase deregulation and chromosome nondisjunction. 61
33472072 2021
22
Missed connections: recombination and human aneuploidy. 61
33484483 2021
23
Failure to recombine is a common feature of human oogenesis. 61
33306948 2021
24
Cytogenetic signatures of recurrent pregnancy losses. 61
33015842 2021
25
Unusual Longevity of Edwards Syndrome: A Case Report. 61
33297534 2020
26
The Interchromosomal Effect: Different Meanings for Different Organisms. 61
33158985 2020
27
Sexual and developmental aspects of 49, XXXXY Syndrome: A case report. 61
32725928 2020
28
Genotoxic analysis of nickel-iron oxide in Drosophila. 61
32873197 2020
29
Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study. 61
33098655 2020
30
Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring. 61
32445071 2020
31
Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. 61
32399795 2020
32
Insights into variation in meiosis from 31,228 human sperm genomes. 61
32494014 2020
33
Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos. 61
32445153 2020
34
Supernumerary B chromosomes of Aegilops speltoides undergo precise elimination in roots early in embryo development. 61
32488019 2020
35
Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes, paucity of somatic mutations, and extensive allelic imbalances shared across mature, immature, and disseminated components. 61
31911616 2020
36
Condensin I is required for faithful meiosis in Drosophila males. 61
32314039 2020
37
The maize B chromosome is capable of expressing microRNAs and altering the expression of microRNAs derived from A chromosomes. 61
31712937 2020
38
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome. 61
32415901 2020
39
Mathematical modeling of human oocyte aneuploidy. 61
32350135 2020
40
Does human oocyte cryopreservation affect equally on embryo chromosome aneuploidy? 61
32156622 2020
41
Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population. 61
32073761 2020
42
Resolvases, Dissolvases, and Helicases in Homologous Recombination: Clearing the Road for Chromosome Segregation. 61
31936378 2020
43
Transient Myeloproliferative Disorder: A Cytogenomic Update. 61
32526731 2020
44
Hybridization Facilitates Adaptive Evolution in Two Major Fungal Pathogens. 61
31963231 2020
45
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. 61
32599602 2020
46
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer. 61
31982875 2020
47
The association between maternal occupation and down syndrome: A report from the national Down syndrome project. 61
31519426 2020
48
Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13). 61
31464342 2019
49
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21. 61
31830031 2019
50
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. 61
31607426 2019

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 MTRR MTHFR
2 methionine biosynthetic process GO:0009086 9.16 MTRR MTHFR
3 homocysteine metabolic process GO:0050667 8.96 MTRR MTHFR
4 methionine metabolic process GO:0006555 8.62 MTRR MTHFR

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 MTRR MTHFR
2 NADP binding GO:0050661 8.96 MTRR MTHFR
3 FAD binding GO:0071949 8.62 MTRR MTHFR

Sources for Nondisjunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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