MCID: DWN001
MIFTS: 61

Down Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Down Syndrome

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44NIH Rare Diseases, 35MedlinePlus, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Down Syndrome, also known as down's 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.

MedlinePlus:35 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

CDC:4 Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Wikipedia:66 Down syndrome (DS) or Down\'s syndrome, also known as trisomy 21, is a genetic disorder caused by the... more...

Description from OMIM:48 190685

Aliases & Classifications for Down Syndrome

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 28ICD9CM, 41NCIt, 59SNOMED-CT, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

down syndrome 9 66 44 22 48 11 46 35 63
down's syndrome 9 44 22
trisomy 21 66 44 22
complete trisomy 21 syndrome 9 23
47,xy,+21 66 22
47,xx,+21 66 22
down's syndrome - trisomy 21 9
trisomy 21 syndrome 9
down's syndrome nos 9
downs syndrome 9
g trisomy 9
trisomy g 22


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Disease Ontology9 DOID:14250
ICD9CM28 758.0
OMIM48 190685
MeSH36 D004314
ICD1026 Q90, Q90.9

Related Diseases for Down Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

190685

Drugs & Therapeutics for Down Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Down Syndrome

Search NIH Clinical Center for Down Syndrome

Search CenterWatch for Down Syndrome

Genetic Tests for Down Syndrome

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23GTR
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Genetic tests related to Down Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome23

Anatomical Context for Down Syndrome

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34MalaCards
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MalaCards organs/tissues related to Down Syndrome:

34
Brain, Heart, Thyroid, Testes, Eye, Myeloid, Bone, Cortex, Endothelial, Liver, Placenta, Fetal brain, T cells, Kidney, Fetal liver, Cerebellum, Pancreas, Skin, Bone marrow, Whole blood, Breast, Tongue, Cardiac myocytes, Olfactory bulb, Temporal lobe, Thymus, B cells, Colon, Monocytes, Lung, Salivary gland

Animal Models for Down Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Down Syndrome:

38
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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53PubMed
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Articles related to Down Syndrome:

(show top 50)    (show all 1484)
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
Early grammatical development in Spanish children with Down syndrome. (23286320)
2014
4
Restoration of severely impaired eyesight in an adolescent with down syndrome and bilateral cataract in South Asia. (24403902)
2013
5
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. (23671607)
2013
6
Effects of a naturalistic sign intervention on expressive language of toddlers with down syndrome. (23275419)
2013
7
First trimester combined test for Down syndrome screening in unselected pregnancies - A report of a 13-year experience. (24411037)
2013
8
Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. (23475007)
2013
9
Comparison of combined, biochemical and nuchal translucency screening for Down syndrome in first trimester in Northern Finland. (23369035)
2013
10
Down syndrome with end-stage renal disease. (24426250)
2013
11
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
2013
12
Cognitive flexibility among individuals with Down syndrome: assessing the influence of verbal and nonverbal abilities. (23734614)
2013
13
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
14
Dental surgery and anesthetic precautions of a patient with Down syndrome and juvenile rheumatoid arthritis: a case report. (23265174)
2012
15
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
16
Thyroid functions of neonates with Down syndrome. (22985522)
2012
17
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
18
Plasma amyloid-I^ as a function of age, level of intellectual disability, and presence of dementia in Down syndrome. (21116050)
2011
19
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
20
Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome. (19439973)
2009
21
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
22
Anterior spinal artery syndrome in a girl with Down syndrome: case report and literature review. (19810637)
2009
23
Expression of down syndrome critical region 1 represses vascular branching in Xenopus laevis larva. (18360086)
2008
24
Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder. (18331602)
2008
25
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. (18060320)
2008
26
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury. (17984171)
2008
27
Increased amyloid beta protein levels in children and adolescents with Down syndrome. (17275850)
2007
28
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
29
Pericardial effusion due to hypothyroidism in Down syndrome: report of four cases. (17435671)
2007
30
Does vaginal bleeding influence first-trimester markers for Down syndrome? (17286311)
2007
31
Increase in beta-amyloid levels in cerebrospinal fluid of children with Down syndrome. (17914261)
2007
32
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. (16596679)
2006
33
Natural history of GATA1 mutations in Down syndrome. (14656875)
2004
34
Effects of the ApoE epsilon4 allele on olfactory function in Down syndrome. (15345810)
2004
35
First trimester screening for trisomy 21; Do the parameters used detect more pathologies than just Down syndrome? (15099868)
2004
36
Characteristic developmental expression of amyloid beta40, 42 and 43 in patients with Down syndrome. (12689696)
2003
37
Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies. (12529699)
2003
38
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
39
The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease. (11400916)
2001
40
Transient myeloproliferative disorder in Down syndrome presenting with ascites: a case report. (11480727)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Down Syndrome

Search GEO for disease gene expression data for Down Syndrome.

Pathways for genes affiliated with Down Syndrome

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51PathCards, 39NCBI BioSystems Database, 13EMD Millipore
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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 pathway39
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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17Gene Ontology
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Biological processes related to Down Syndrome according to GeneCards/GeneDecks:

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

Products for genes affiliated with Down Syndrome

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Sources for Down Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet