MCID: CHR084
MIFTS: 35

Chromosomal Disease

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosomal Disease

MalaCards integrated aliases for Chromosomal Disease:

Name: Chromosomal Disease 12 15
Congenital Chromosomal Disease 70
Chromosomal Disorders 54
Chromosomal Anomaly 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0080014
ICD10 32 Q99.9
UMLS 70 C0008626

Summaries for Chromosomal Disease

Disease Ontology : 12 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 is MicroRNAs in cancer. The drugs Melatonin and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and myeloid.

Related Diseases for Chromosomal Disease

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome Y Chromosomal Anomaly
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 364)
# Related Disease Score Top Affiliating Genes
1 down syndrome 32.1 SERPINA3 PAPPA MIR155 DYRK1A AFP
2 chromosomal deletion syndrome 32.0 PRODH MIR9-1 MIR24-1 MIR200B MIR19B1 MIR185
3 chromosomal duplication syndrome 32.0 U2AF1 SERPINA3 PRODH PAPPA MIR9-1 MIR486-1
4 leukemia, acute myeloid 30.8 U2AF1 SERPINA3 PRODH MIR9-1 MIR486-1 MIR21
5 chromosomal triplication 30.8 PAPPA AFP
6 leukemia, acute lymphoblastic 30.7 U2AF1 PRODH MIR9-1 MIR21 MIR17 MIR155
7 patau syndrome 30.6 U2AF1 PAPPA AFP
8 diffuse large b-cell lymphoma 30.4 MIR21 MIR200B MIR17 MIR155
9 cystic lymphangioma 30.4 SERPINA3 PAPPA AFP
10 triploidy 30.4 PAPPA AFP
11 fragile x syndrome 30.3 PRODH MIR9-1 MIR24-1 H2AC18
12 skin disease 30.3 U2AF1 SERPINA3 PRODH MIR9-1 MIR24-1 MIR21
13 pierre robin syndrome associated with a chromosomal anomaly 11.2
14 cri-du-chat syndrome 11.1
15 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.1
16 chromosome 18p deletion syndrome 11.1
17 jacobsen syndrome 11.1
18 chromosome 13q14 deletion syndrome 11.1
19 16q24.3 microdeletion syndrome 11.1
20 chromosome 13q duplication 11.1
21 chromosome 14q deletion 11.1
22 chromosome 16q deletion 11.1
23 chromosome 19p deletion 11.1
24 chromosome 22q duplication 11.1
25 chromosome 9p duplication 11.1
26 chromosome 9q deletion 11.1
27 chromosome 9q duplication 11.1
28 distal chromosome 18q deletion syndrome 11.1
29 proximal chromosome 18q deletion syndrome 11.1
30 49, xxxxy syndrome 11.1
31 chromosomal anomaly with epilepsy as a major feature 11.1
32 sucking/swallowing disorder associated to a chromosomal anomaly 11.1
33 y chromosomal anomaly 11.1
34 x and y chromosomal anomaly 11.1
35 rare chromosomal anomaly 11.1
36 chromosomal anomaly with cataract 11.1
37 mosaic variegated aneuploidy syndrome 1 11.0
38 chromosomal disease with overgrowth 11.0
39 chromosome 17p13.1 deletion syndrome 11.0
40 chromosome 17q12 duplication syndrome 11.0
41 chromosome 17q12 deletion syndrome 11.0
42 chromosome 15q24 deletion syndrome 11.0
43 8p inverted duplication/deletion syndrome 11.0
44 8p23.1 duplication syndrome 11.0
45 chromosome 15, trisomy mosaicism 11.0
46 chromosome 2q24 microdeletion syndrome 11.0
47 cobb syndrome 11.0
48 ring chromosome 12 11.0
49 ring chromosome 17 11.0
50 ring chromosome 6 11.0

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

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
2 Protective Agents
3 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies Unknown status NCT03201666
2 Examining the Ability of Electronic Nose in Detecting Fetal Chromosomal Disorders Unknown status NCT02579213
3 National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY) Unknown status NCT00064597
4 Prospective Collection of Whole Blood Specimens From Pregnant Women at Any Risk of Fetal Chromosomal Anomaly for the Development of a Noninvasive Prenatal Test Completed NCT03620110
5 Correlation Between Ultrasonographic Fetal Soft Markers and Aneuploidy Completed NCT03861520
6 Diagnosis and Management of Intrauterine Growth Restriction, Structural Anomalies and Chromosomal Anomalies: A Prospective Cohort Study Recruiting NCT03398629
7 The Value of Prenatal Ultrasound in the Diagnosis and Monitoring of Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies of Twin Active, not recruiting NCT02732717
8 Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome: a Pilot Study Terminated NCT00691574

Search NIH Clinical Center for Chromosomal Disease

Genetic Tests for Chromosomal Disease

Genetic tests related to Chromosomal Disease:

# Genetic test Affiliating Genes
1 Chromosomal Anomaly 29

Anatomical Context for Chromosomal Disease

MalaCards organs/tissues related to Chromosomal Disease:

40
Bone, Heart, Myeloid, Eye, Whole Blood, Kidney, Lung

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

(show top 50) (show all 59)
# Title Authors PMID Year
1
[Neurological changes and outcomes of paediatric surgery of the aortic arch using selective cerebral perfusion]. 61
32513600 2020
2
Left ventricular remodelling among Turner syndrome patients: insights from non-invasive 3D echocardiography-derived pressure-volume loop analysis. 61
31786629 2020
3
Gesell Developmental Schedules scores and the relevant factors in children with Down syndrome. 61
32242832 2020
4
[Trisomy 18 or postnatal Edward´s syndrome: descriptive study conducted at the University Hospital Center of Casablanca and literature review]. 61
33654528 2020
5
Assessment of left ventricular myocardial work in Turner syndrome patients: insights from the novel non-invasive pressure-strain loop analysis method. 61
31956525 2020
6
Two-dimensional speckle tracking of the abdominal aorta: a novel approach to evaluate arterial stiffness in patients with Turner syndrome. 61
31737531 2019
7
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. 61
31443662 2019
8
Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study. 61
29600796 2018
9
Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome. 61
29544220 2018
10
Middle pregnancy ultrasound screening for fetal chromosomal diseases. 61
28944865 2017
11
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. 61
27644703 2017
12
Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis. 61
26445265 2016
13
[POSSIBILITIES AND LIMITATIONS ANALYSIS OF SCREENING IN PREGNANT WOMEN FOR DOWN SYNDROME AND OTHER COMMON CHROMOSOMAL DISORDERS OVER A PERIOD OF TWO YEARS]. 61
27514138 2016
14
Use of the HPRT gene to study nuclease-induced DNA double-strand break repair. 61
26423459 2015
15
[Nursing Experience With Providing Wound Care for a Newborn With Epidermolysis Bullosa]. 61
26645451 2015
16
Is nutritional support needed in late preterm infants? 61
26597280 2015
17
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. 61
25388684 2015
18
[Prenatal diagnosis of a case of Pallister-Killian syndrome]. 61
25636105 2015
19
Repair of complete atrioventricular septal defect in infants with down syndrome: outcomes and long-term results. 61
25099029 2015
20
Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. 61
25044397 2015
21
[Applied research of combined G-banding and array-CGH in the prenatal diagnosis of ultrasonographic abnormalities in fetuses]. 61
25449078 2014
22
Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study. 61
24184606 2014
23
Changes of musculoskeletal deformity in severely disabled children using the custom molded fitting chair. 61
23524955 2013
24
[Tetrasomy 18p syndrome and hearing loss. An unusual case]. 61
22733277 2012
25
[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]. 61
22859333 2012
26
[Karyotype analysis of qualified sperm donors on preliminary screening]. 61
21351525 2011
27
[Posture in Turner syndrome patients]. 61
21092698 2010
28
Turner syndrome with ulcerative colitis. 61
23926368 2009
29
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. 61
19017565 2008
30
First trimester Down syndrome screening: distribution of markers and comparison of assays for quantification of pregnancy-associated plasma protein-A. 61
16537243 2006
31
Aneuploidy and cancer: from correlation to causation. 61
16627957 2006
32
The level of ADAM12-S in maternal serum is an early first-trimester marker of fetal trisomy 18. 61
15662668 2005
33
The chromosomal basis of cancer. 61
16373963 2005
34
Total pregnancy-associated plasma protein A--a first trimester maternal serum marker for Down's syndrome: clinical and technical assessment of a poly-monoclonal enzyme immunoassay. 61
14594321 2003
35
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)? 54
11360279 2001
36
Celiac disease and Turner's syndrome: patient report. 61
11154159 2000
37
The association between Turner's syndrome and juvenile rheumatoid arthritis. 61
10460329 1999
38
Maternal serum screening for Down syndrome in a teaching hospital in Hong Kong. 54
11601289 1999
39
[Analytic study of amniocentesis in prenatal genetic diagnosis. Transversal study of cases]. 61
9679399 1998
40
[Genetics of mental retardation]. 61
9646628 1998
41
[Maternal serum markers of fetal trisomy 21]. 61
7501610 1995
42
The ultrasound markers of chromosomal disease: a retrospective study. 61
8319061 1993
43
Choroid plexus cysts: a normal finding on ultrasound. 61
1437362 1992
44
Alpha-fetoprotein in fetal serum, amniotic fluid, and maternal serum. 54
1722580 1991
45
First trimester maternal serum alpha-fetoprotein screening for Down syndrome and other aneuploidies. 54
1705804 1990
46
Congenital right-sided diaphragmatic hernia: a heterogeneous lesion. 61
2810186 1989
47
[Chromosome translocations: study of 232 cases originating from 144 families]. 61
2967887 1988
48
The genetic implications of optic disc anomalies. 61
3868877 1985
49
Quantitative histology of human fetal testes in chromosomal disease. 61
2937030 1985
50
Fetal chromosome analysis: screening for chromosome disease? 61
6622404 1983

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
1 11.59 MIR9-1 MIR21 MIR200B MIR19B1 MIR17 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 extracellular space GO:0005615 9.65 SERPINA3 PAPPA MIR486-1 MIR24-1 MIR21 MIR19B1
2 extracellular vesicle GO:1903561 9.02 MIR24-1 MIR21 MIR19B1 MIR185 MIR17

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.71 MIR19B1 MIR185 MIR155
2 negative regulation of gene expression GO:0010629 9.63 MIR21 MIR200B MIR19B1 MIR185 MIR17 MIR155
3 negative regulation of angiogenesis GO:0016525 9.62 MIR24-1 MIR21 MIR200B MIR185
4 gene silencing by miRNA GO:0035195 9.61 MIR9-1 MIR486-1 MIR24-1 MIR21 MIR200B MIR19B1
5 negative regulation of blood vessel endothelial cell migration GO:0043537 9.58 MIR24-1 MIR200B MIR155
6 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.55 MIR24-1 MIR155
7 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.54 MIR24-1 MIR21 MIR19B1
8 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.52 MIR17 MIR155
9 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.51 MIR17 MIR155
10 positive regulation of metalloendopeptidase activity GO:1904685 9.49 MIR21 MIR17
11 negative regulation of vascular wound healing GO:0061044 9.48 MIR200B MIR155
12 negative regulation of regulatory T cell differentiation GO:0045590 9.46 MIR21 MIR155
13 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.43 MIR21 MIR17
14 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.43 MIR185 MIR17 MIR155
15 miRNA mediated inhibition of translation GO:0035278 9.1 MIR9-1 MIR21 MIR200B MIR19B1 MIR17 MIR155

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 MIR21 MIR200B MIR17
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR9-1 MIR24-1 MIR21 MIR200B MIR19B1 MIR185

Sources for Chromosomal Disease

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
Content
Loading form....