MCID: DWN001
MIFTS: 62

Down Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Down Syndrome

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NIH Rare Diseases:42 Down syndrome is a chromosome condition that is associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. the degree of intellectual disability varies from mild to moderate. people with down syndrome may be born with a variety of health concerns, including heart defects or digestive abnormalities. in addition, they have an increased risk of developing gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and alzheimer disease. down syndrome is caused by having three copies of chromosome 21, instead of the usual two copies. this condition occurs in about 1 in 800 newborns. researchers have identified genes that cause some of the features of down syndrome and are working to learn more in order to improve treatment options. last updated: 6/8/2012

MalaCards based summary: Down Syndrome, also known as complete trisomy 21 syndrome, is related to alzheimer's disease and mental retardation. An important gene associated with Down Syndrome is DCR (Down syndrome chromosome region), and among its related pathways are Role of Calcineurin-dependent NFAT signaling in lymphocytes and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. Affiliated tissues include brain, heart and thyroid, and related mouse phenotypes are growth/size/body and nervous system.

Disease Ontology:8 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

Genetics Home Reference:21 Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

MedlinePlus:33 Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. people with down syndrome can have physical problems, as well as intellectual disabilities. every person born with down syndrome is different. people with the syndrome may also have other health problems. they may be born with heart disease. they may have dementia. they may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. the chance of having a baby with down syndrome increases as a woman gets older. down syndrome cannot be cured. early treatment programs can help improve skills. they may include speech, physical, occupational, and/or educational therapy. with support and treatment, many people with down syndrome live happy, productive lives. nih: national institute of child health and human development

Wikipedia:65 Down syndrome (DS) or Down\'s syndrome, also known as trisomy 21, is a genetic disorder caused by the... more...

Description from OMIM:46 190685

Aliases & Classifications for Down Syndrome

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Down Syndrome, Aliases & Descriptions:

Name: Down Syndrome 8 65 42 21 46 10 44 33 62
Complete Trisomy 21 Syndrome 8 22 62
Down's Syndrome 8 42 21
Trisomy 21 65 42 21
Down's Syndrome - Trisomy 21 8 62
Trisomy 21 Syndrome 8 62
 
47,xx,+21 65 21
47,xy,+21 65 21
Trisomy G 21 62
Downs Syndrome 8
G Trisomy 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

Disease Ontology8 DOID:14250
OMIM46 190685
ICD9CM27 758.0
MeSH34 D004314
ICD1025 Q90, Q90.9

Related Diseases for Down Syndrome

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Graphical network of the top 20 diseases related to Down Syndrome:



Diseases related to down syndrome

Symptoms for Down Syndrome

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Clinical features from OMIM:

190685

Drugs & Therapeutics for Down Syndrome

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Drug clinical trials:

Search ClinicalTrials for Down Syndrome

Search NIH Clinical Center for Down Syndrome

Genetic Tests for Down Syndrome

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Genetic tests related to Down Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome22

Anatomical Context for Down Syndrome

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MalaCards organs/tissues related to Down Syndrome:

32
Brain, Heart, Thyroid, Testes, Eye, Myeloid, Bone, Cortex, Liver, Endothelial, Placenta, T cells, Fetal brain, Kidney, Cerebellum, Fetal liver, Pancreas, Skin, Bone marrow, Whole blood, Thymus, Colon, Lung, Salivary gland, Breast, Monocytes, B cells, Prefrontal cortex, Temporal lobe, Olfactory bulb, Cardiac myocytes, Tongue, Neutrophil

Animal Models for Down Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Down Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1RCAN1, RCAN2, DYRK1A, SIM2, SIM1, BACE2
2MP:00036317.8UBB, DSCAML1, DSCAM, PSMG1, DYRK1A, SIM2

Publications for Down Syndrome

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Articles related to Down Syndrome:

(show top 50)    (show all 1532)
idTitleAuthorsYear
1
Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits. (24041763)
2014
2
Antenatal screening for Down Syndrome and other chromosomal abnormalities: increasingly complex issues. (24132715)
2014
3
Should We Mend Their Broken Hearts? The History of Cardiac Repairs in Children With Down Syndrome. (25367533)
2014
4
Refractive error, binocular vision and accommodation of children with Down syndrome. (25395109)
2014
5
Restoration of severely impaired eyesight in an adolescent with down syndrome and bilateral cataract in South Asia. (24403902)
2013
6
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. (23671607)
2013
7
Effects of a naturalistic sign intervention on expressive language of toddlers with down syndrome. (23275419)
2013
8
First trimester combined test for Down syndrome screening in unselected pregnancies - A report of a 13-year experience. (24411037)
2013
9
Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. (23475007)
2013
10
Comparison of combined, biochemical and nuchal translucency screening for Down syndrome in first trimester in Northern Finland. (23369035)
2013
11
Down syndrome with end-stage renal disease. (24426250)
2013
12
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
2013
13
Cognitive flexibility among individuals with Down syndrome: assessing the influence of verbal and nonverbal abilities. (23734614)
2013
14
A comparison study of depression and quality of life in Turkish mothers of children with Down syndrome, cerebral palsy, and autism spectrum disorder. (23654042)
2013
15
Dental surgery and anesthetic precautions of a patient with Down syndrome and juvenile rheumatoid arthritis: a case report. (23265174)
2012
16
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
17
Thyroid functions of neonates with Down syndrome. (22985522)
2012
18
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
19
Plasma amyloid-I^ as a function of age, level of intellectual disability, and presence of dementia in Down syndrome. (21116050)
2011
20
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
21
Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome. (19439973)
2009
22
A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions. (19460634)
2009
23
Anterior spinal artery syndrome in a girl with Down syndrome: case report and literature review. (19810637)
2009
24
Expression of down syndrome critical region 1 represses vascular branching in Xenopus laevis larva. (18360086)
2008
25
Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder. (18331602)
2008
26
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. (18060320)
2008
27
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury. (17984171)
2008
28
Increased amyloid beta protein levels in children and adolescents with Down syndrome. (17275850)
2007
29
Down syndrome critical region-1 is a transcriptional target of nuclear factor of activated T cells-c1 within the endocardium during heart development. (17693409)
2007
30
Pericardial effusion due to hypothyroidism in Down syndrome: report of four cases. (17435671)
2007
31
Does vaginal bleeding influence first-trimester markers for Down syndrome? (17286311)
2007
32
Increase in beta-amyloid levels in cerebrospinal fluid of children with Down syndrome. (17914261)
2007
33
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. (16596679)
2006
34
Natural history of GATA1 mutations in Down syndrome. (14656875)
2004
35
Effects of the ApoE epsilon4 allele on olfactory function in Down syndrome. (15345810)
2004
36
First trimester screening for trisomy 21; Do the parameters used detect more pathologies than just Down syndrome? (15099868)
2004
37
Characteristic developmental expression of amyloid beta40, 42 and 43 in patients with Down syndrome. (12689696)
2003
38
Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies. (12529699)
2003
39
High expression of platelet-derived growth factor and transforming growth factor-beta 1 in blast cells from patients with Down Syndrome suffering from transient myeloproliferative disorder and organ fibrosis. (11703351)
2001
40
The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease. (11400916)
2001
41
Maternal serum screening for down syndrome by using alpha-fetoprotein and human chorionic gonadotropin in an asian population. a prospective study. (10720876)
2000
42
A new gene family including DSCR1 (Down syndrome candidate region 1) and ZAKI-4: characterization from yeast to human and identification of DSCR1-like 2, a novel human member (DSCR1L2). (10756093)
2000
43
Second-trimester maternal serum inhibin-A screening for fetal Down syndrome in Asian women. (10360516)
1999
44
Thrombopoietin level is inversely related to blast count, not platelet number, in Down syndrome neonates with transient myeloproliferative disorder. (9692388)
1998
45
Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. (9399594)
1997
46
Similar deficits of central histaminergic system in patients with Down syndrome and Alzheimer disease. (9148245)
1997
47
Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. (8724848)
1996
48
Neuronal plasticity and astrocytic reaction in Down syndrome and Alzheimer disease. (1977892)
1990
49
Correction of atrioventricular septal defect. Results influenced by Down syndrome? (2530895)
1989
50
Transient myeloproliferative disorder. In a neonate with Down syndrome. Immunophenotypic studies. (2522030)
1989

Variations for Down Syndrome

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Expression for genes affiliated with Down Syndrome

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Expression patterns in normal tissues for genes affiliated with Down Syndrome

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Pathways for genes affiliated with Down Syndrome

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Pathways related to Down Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0RCAN2, RCAN1
2
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
10.0RCAN2, RCAN1
39.9SIM1, SIM2

Compounds for genes affiliated with Down Syndrome

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GO Terms for genes affiliated with Down Syndrome

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Biological processes related to Down Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendrite self-avoidanceGO:07059310.0DSCAM, DSCAML1
2calcium-mediated signalingGO:0197229.7RCAN2, RCAN1, RCAN3
3negative regulation of cell adhesionGO:0071629.7DSCAM, DSCAML1
4nervous system developmentGO:0073999.4DSCAM, DYRK1A, SIM2, SIM1
5biological_processGO:0081509.1RIPPLY3, DSCR10, DSCR4, DSCR3

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Sources for Down Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet