Chromosomal Disease

Categories: Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Chromosomal Disease

MalaCards integrated aliases for Chromosomal Disease:

Name: Chromosomal Disease 11 14
Congenital Chromosomal Disease 71
Chromosomal Disorders 53


External Ids:

Disease Ontology 11 DOID:0080014
ICD10 31 Q99.9
UMLS 71 C0008626

Summaries for Chromosomal Disease

Disease Ontology: 11 A genetic disease that has material basis in extra, missing, or re-arranged chromosomes.

MalaCards based summary: Chromosomal Disease, also known as congenital chromosomal disease, is related to down syndrome and chromosomal deletion syndrome. An important gene associated with Chromosomal Disease is DGCR5 (DiGeorge Syndrome Critical Region Gene 5), and among its related pathways/superpathways are Cell differentiation - expanded index and miRNAs involvement in the immune response in sepsis. Affiliated tissues include heart, bone marrow and testes.

Related Diseases for Chromosomal Disease

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome X and Y Chromosomal Anomaly
Rare Chromosomal Anomaly

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

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 down syndrome 32.1 SERPINA3 RCAN1 PAPPA MIR155 DYRK1A APP
2 chromosomal deletion syndrome 32.1 PRODH MIR9-1 MIR24-1 MIR200B MIR17 ICOSLG
3 chromosomal duplication syndrome 32.0 U2AF1 SERPINA3 RCAN1 PRODH PAPPA MIR9-1
4 patau syndrome 30.6 U2AF1 PAPPA DGCR5 AFP
5 neural tube defects 30.4 PAPPA MIR9-1 H2AC18 EPRS1 AFP
6 skin disease 30.3 U2AF1 SERPINA3 PRODH MIR9-1 MIR24-1 MIR200B
7 wolf-hirschhorn syndrome 30.0 H2AC18 DGCR5 CRYAA
8 mosaic variegated aneuploidy syndrome 1 11.0
9 chromosomal disease with overgrowth 11.0
10 partial deletion of the long arm of chromosome 15 10.9
11 prader-willi syndrome 10.8
12 substance abuse 10.6 SERPINA3 PRODH MIR9-1 H2AC18 AFP
13 low grade glioma 10.6 SERPINA3 MIR9-1 MIR155 H2AC18 DGCR5
14 central nervous system benign neoplasm 10.6 SERPINA3 MIR9-1 MIR155 H2AC18 DGCR5
15 germ cell cancer 10.6 SERPINA3 PRODH MIR9-1 H2AC18 AFP
16 placenta disease 10.6 SERPINA3 PRODH PAPPA H2AC18 AFP
17 alcohol use disorder 10.6 SERPINA3 PRODH H2AC18 AFP
18 cecal disease 10.6 SERPINA3 H2AC18 AFP
19 paranoid schizophrenia 10.6 SERPINA3 PRODH H2AC18
20 phobic disorder 10.6 SERPINA3 PRODH H2AC18
21 blood coagulation disease 10.6 U2AF1 SERPINA3 PRODH ICOSLG H2AC18
22 bacterial infectious disease 10.6 SERPINA3 MIR155 ICOSLG H2AC18
23 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.6 U2AF1 H2AC18 AFP
24 mast cell neoplasm 10.6 U2AF1 SERPINA3 ICOSLG H2AC18
25 uterine corpus cancer 10.6 U2AF1 ICOSLG H2AC18 DGCR5
26 mixed cell type cancer 10.6 SERPINA3 H2AC18 AFP
27 brain glioma 10.6 U2AF1 ICOSLG H2AC18 DGCR5
28 cardiovascular organ benign neoplasm 10.6 SERPINA3 MIR17 H2AC18 AFP
29 primary bacterial infectious disease 10.6 SERPINA3 PRODH MIR155 ICOSLG H2AC18
30 autosomal dominant intellectual developmental disorder 10.6 MIR9-1 H2AC18 DYRK1A
31 secondary progressive multiple sclerosis 10.6 SERPINA3 PRODH MIR155 MIR132 ICOSLG
32 mental depression 10.6 SERPINA3 PRODH MIR9-1 MIR24-1 MIR155 MIR132
33 spinal cord disease 10.6 SERPINA3 MIR9-1 MIR155 ICOSLG H2AC18
34 infratentorial cancer 10.6 U2AF1 MIR9-1 MIR17 MIR155 H2AC18
35 ovarian cystadenocarcinoma 10.6 U2AF1 SERPINA3 MIR17 ICOSLG H2AC18
36 parasitic protozoa infectious disease 10.6 SERPINA3 PRODH ICOSLG H2AC18 EPRS1
37 blood platelet disease 10.6 U2AF1 SERPINA3 PRODH ICOSLG H2AC18
38 toxic encephalopathy 10.6 SERPINA3 PRODH MIR9-1 MIR132 H2AC18 APP
39 cervix carcinoma 10.6 U2AF1 SERPINA3 MIR9-1 MIR24-1 ICOSLG H2AC18
40 coronavirus infectious disease 10.6 SERPINA3 MIR155 ICOSLG H2AC18
41 ovary adenocarcinoma 10.6 U2AF1 SERPINA3 MIR17 ICOSLG H2AC18
42 suppression of tumorigenicity 12 10.6 U2AF1 SERPINA3 ICOSLG H2AC18
43 ovarian serous cystadenocarcinoma 10.6 U2AF1 SERPINA3 MIR17 ICOSLG H2AC18
44 macular holes 10.6 SERPINA3 MIR9-1 CRYAA
45 retinitis pigmentosa 11 10.6 PRODH MIR9-1 H2AC18 DGCR5
46 splenic disease 10.6 U2AF1 SERPINA3 H2AC18
47 lipid storage disease 10.6 SERPINA3 MIR9-1 MIR17 MIR155 H2AC18
48 cerebral degeneration 10.6 SERPINA3 PRODH H2AC18 EPRS1 CRYAA APP
49 mood disorder 10.6 SERPINA3 PRODH MIR9-1 MIR24-1 MIR132 H2AC18
50 trypanosomiasis 10.6 PRODH ICOSLG H2AC18 EPRS1

Graphical network of the top 20 diseases related to Chromosomal Disease:

Diseases related to Chromosomal Disease

Symptoms & Phenotypes for Chromosomal Disease

Drugs & Therapeutics for Chromosomal Disease

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Examining the Ability of Electronic Nose in Detecting Fetal Chromosomal Disorders Unknown status NCT02579213

Search NIH Clinical Center for Chromosomal Disease

Genetic Tests for Chromosomal Disease

Anatomical Context for Chromosomal Disease

Organs/tissues related to Chromosomal Disease:

MalaCards : Heart, Bone Marrow, Testes, Brain, Skin, Thyroid, Bone

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

(show top 50) (show all 602)
# Title Authors PMID Year
Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)? 53 62
11360279 2001
Maternal serum screening for Down syndrome in a teaching hospital in Hong Kong. 53 62
11601289 1999
Alpha-fetoprotein in fetal serum, amniotic fluid, and maternal serum. 53 62
1722580 1991
Cannabis- and Substance-Related Epidemiological Patterns of Chromosomal Congenital Anomalies in Europe: Geospatiotemporal and Causal Inferential Study. 62
36141481 2022
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome. 62
36076277 2022
Women's responses to prenatal genetic diagnosis and attitudes to termination of pregnancy after non-invasive prenatal testing: An online survey of Western Australian women. 62
36068728 2022
Risk factors for severe PCR-positive SARS-CoV-2 infection in hospitalised children. 62
36053578 2022
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review. 62
35686676 2022
Prevalence and trends of congenital heart defects among live births from 2005 to 2014 in Northern Ireland. 62
35968936 2022
Association of Prenatal Exposure to Antiseizure Medication With Risk of Autism and Intellectual Disability. 62
35639399 2022
MicroRNA-126-3p/5p and Aortic Stiffness in Patients with Turner Syndrome. 62
35892612 2022
The effect of hemolysis on quality control metrics for noninvasive prenatal testing. 62
35659298 2022
Complex study of Cancer Morbidity and Inflammatory Markers, Presented in the Blood Serum of the Rural Population of Sachkhere District of Georgia. 62
35763657 2022
Prenatal serum screening - a summary of our experience with high risk reporting. 62
32510260 2022
Antenatal screening for chromosomal abnormalities. 62
35279726 2022
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. 62
35248119 2022
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome. 62
35361246 2022
Altered gut microbiota correlates with cognitive impairment in Chinese children with Down's syndrome. 62
33999314 2022
Classification of analyzable metaphase images using transfer learning and fine tuning. 62
34822119 2022
Psychosocial Functioning in Siblings of Children With Rare Disorders Compared to Controls. 62
34970091 2021
Physical Activity and Diet Quality: Effects on Cardiovascular Morbidity in Women with Turner Syndrome-Results from an Online Patient Survey. 62
35011908 2021
A Comparison of Sexual Function in Male Patients with Anorectal Malformations Between the Conventional and Laparoscopic Approaches. 62
34669516 2021
Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia. 62
35047260 2021
Non-Invasive Prenatal Genetic Testing (NIPT) Leading to Prenatal Diagnosis of Trisomy 21 Mosaicism and 18q Deletion Syndrome: Two Cases. 62
34955544 2021
Y Chromosome Material in Turner Syndrome. 62
34868795 2021
Association of maternal body mass index with intellectual disability risk. 62
33849956 2021
Effect of short-term psychological intervention on anxiety of pregnant women with positive screening results for chromosomal disorders: a randomized controlled trial. 62
34753431 2021
The impact of asymmetry on the radiographical outcomes following hip reconstruction in patients with cerebral palsy. 62
34858539 2021
Reticulocyte hemoglobin content as a function of iron stores at 35-36 weeks post menstrual age in very premature infants. 62
31662016 2021
Effect of Vasopressin on Systemic and Pulmonary Hemodynamics in Neonates. 62
32485754 2021
Relation Between Increased Fetal Nuchal Translucency Thickness and Chromosomal Defects in Northern Vietnam. 62
34745772 2021
Time interval from late preterm antenatal corticosteroid administration to delivery and the impact on neonatal outcomes. 62
34153514 2021
Platelets and Immature Neutrophils in Preterm Infants with Feeding Intolerance. 62
32446253 2021
Prenatal exposure to maternal β-thalassemia minor and the risk for long-term hematologic morbidity in the offspring: A population-based cohort study. 62
34102479 2021
Genetic testing in patients with possible foetal alcohol spectrum disorder. 62
33229415 2021
Cis-acting: A pattern of lncRNAs for gene regulation in induced pluripotent stem cells from patients with Down syndrome determined by integrative analysis of lncRNA and mRNA profiling data. 62
34007310 2021
The Unrecognized Mortality Burden of Genetic Disorders in Infancy. 62
34314210 2021
Genetic findings in miscarriages and their relation to the number of previous miscarriages. 62
33211176 2021
Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period. 62
33683014 2021
Clinical and genetic findings in patients with congenital cataract and heart diseases. 62
34059112 2021
"Difficult to Sedate": Successful Implementation of a Benzodiazepine-Sparing Analgosedation-Protocol in Mechanically Ventilated Children. 62
33924822 2021
Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. 62
33809432 2021
Land use as an effective factor on the occurrence of chromosomal diseases in Brazil. 62
34853634 2021
Effectiveness of the Preventive Intervention of Chromosomal Disorders of Iran's Community Genetics Program: Application of Bayesian Network. 62
35321377 2021
Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders. 62
34025125 2021
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review. 62
34956087 2021
An unknown chromosomal aberration in a patient with chronic lymphocytic leukemia: Extra isochromosome 4q. 62
33723172 2021
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations. 62
32495635 2020
Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18. 62
33212351 2020
[Neurological changes and outcomes of paediatric surgery of the aortic arch using selective cerebral perfusion]. 62
32513600 2020

Variations for Chromosomal Disease

Expression for Chromosomal Disease

Search GEO for disease gene expression data for Chromosomal Disease.

Pathways for Chromosomal Disease

Pathways related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
11.03 MIR9-1 MIR17 MIR155
2 10.59 MIR9-1 MIR200B MIR155

GO Terms for Chromosomal Disease

Cellular components related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.4 MIR9-1 MIR24-1 MIR200B MIR17 MIR155 MIR132

Biological processes related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.5 MIR9-1 MIR200B MIR17 MIR155 MIR132 APP
2 negative regulation of blood vessel endothelial cell migration GO:0043537 9.33 MIR24-1 MIR200B MIR132
3 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.02 MIR9-1 MIR24-1 MIR200B MIR17 MIR132

Molecular functions related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.35 MIR9-1 MIR24-1 MIR200B MIR17 MIR155
2 mRNA base-pairing translational repressor activity GO:1903231 9.1 MIR9-1 MIR24-1 MIR200B MIR17 MIR155 MIR132

Sources for Chromosomal Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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