MCID: DWN001
MIFTS: 62

Down Syndrome malady

Genetic diseases category

Summaries for Down Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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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: Down Syndrome, also known as down's syndrome, is related to intellectual disability and leukemia. An important gene associated with Down Syndrome is DCR (Down syndrome chromosome region), and among its related pathways is DSCAM interactions. Affiliated tissues include brain, heart and thyroid.

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

CDC:3 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:63 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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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 22GTR, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

down syndrome 8 63 42 21 46 10 44 33 60
down's syndrome 8 42 21
trisomy 21 63 42 21
complete trisomy 21 syndrome 8 22
47,xx,+21 63 21
47,xy,+21 63 21
down's syndrome - trisomy 21 8
trisomy 21 syndrome 8
down's syndrome nos 8
downs syndrome 8
g trisomy 8
trisomy g 21


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

Related Diseases for Down Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Down Syndrome:



Diseases related to down syndrome

Clinical Features for Down Syndrome

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46OMIM
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Clinical features from OMIM:

190685

Drugs & Therapeutics for Down Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Down Syndrome

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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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Down Syndrome:

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

Animal Models for Down Syndrome or affiliated genes

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Publications for Down Syndrome

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50PubMed
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Articles related to Down Syndrome:

(show top 50)    (show all 1562)
idTitleAuthorsYear
1
Relationship between flat foot condition and gait pattern alterations in children with Down syndrome. (23289955)
2014
2
Relationship between family quality of life and day occupations of young people with Down syndrome. (24414088)
2014
3
Hospitalization for respiratory syncytial virus illness in down syndrome following prophylaxis with palivizumab. (23989104)
2014
4
Down syndrome masked by Marfan syndrome in a neonate. (23483062)
2013
5
Share with women. Prenatal tests for Down syndrome. (23631486)
2013
6
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project. (23558253)
2013
7
Bilateral congenital lacrimal fistula in Down syndrome. (24014994)
2013
8
Changes in mortality and causes of death in the Swedish Down syndrome population. (23436430)
2013
9
Upregulation of RCAN1 causes Down syndrome-like immune dysfunction. (23644448)
2013
10
Systematic review of cognitive development across childhood in Down syndrome: implications for treatment interventions. (23506141)
2013
11
Efficacy of the genetic sonogram in a stepwise sequential protocol for down syndrome screening. (23980222)
2013
12
Low-contrast acuity measurement: does it add value in the visual assessment of down syndrome and cerebral palsy populations? (23233262)
2013
13
Ten year serial mean corpuscular volume--a peripheral marker for Alzheimer's disease in Down syndrome. (24038164)
2013
14
Is oximetry an effective screening tool for obstructive sleep apnoea in children with Down syndrome? (23241194)
2013
15
Pharmacotherapy with fluoxetine restores functional connectivity from the dentate gyrus to field CA3 in the Ts65Dn mouse model of down syndrome. (23620781)
2013
16
Experiences of parents with a child with Down syndrome in Pakistan and their views on termination of pregnancy. (23090504)
2013
17
Double-orifice left atrioventricular valve in patients with atrioventricular septal defect with and without down syndrome. (23608283)
2013
18
DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome. (23497562)
2013
19
Dental surgery and anesthetic precautions of a patient with Down syndrome and juvenile rheumatoid arthritis: a case report. (23265174)
2012
20
Prenatal screening for open neural tube defects and Down syndrome: three decades of progress. (20572104)
2010
21
Rivastigmine for dementia in people with Down syndrome. (19160344)
2009
22
Costs and effects of prenatal screening methods for Down syndrome and neural tube defects. (18690004)
2008
23
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
24
Does vaginal bleeding influence first-trimester markers for Down syndrome? (17286311)
2007
25
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. (17456055)
2007
26
Adipocyte resistin mRNA levels are down-regulated by laparoscopic ovarian electrocautery in both obese and lean women with polycystic ovary syndrome. (17208941)
2007
27
Alopecia universalis in Down syndrome: response to therapy. (17179625)
2006
28
GATA 1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome--a new tool with significant potential applications. (15925405)
2005
29
Human chromosome 21-specific DNA markers are useful in prenatal detection of Down syndrome. (15487707)
2004
30
Altered glutamate uptake in peripheral tissues from Down syndrome patients. (12759167)
2003
31
Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. (14636651)
2003
32
Progressive worsening of adaptive functions in Down syndrome may be mediated by the complexing of soluble Abeta peptides with the alpha 7 nicotinic acetylcholine receptor: therapeutic implications. (14520169)
2003
33
Development of refractive error and strabismus in children with Down syndrome. (12601024)
2003
34
Aberrant expression of signaling-related proteins 14-3-3 gamma and RACK1 in fetal Down syndrome brain (trisomy 21), AND MASS SPECTROMETRY. (11824616)
2002
35
Decreased brain histamine-releasing factor protein in patients with Down syndrome and Alzheimer's disease. (11172935)
2001
36
Alteration of caspases and other apoptosis regulatory proteins in Down syndrome. (11771741)
2001
37
Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome. (10951459)
2000
38
Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion. (10925149)
2000
39
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (9503011)
1998
40
Down syndrome, transient myeloproliferative disorder, and infantile liver fibrosis. (9722898)
1998
41
Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome. (9885027)
1998
42
Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome. (9189907)
1997
43
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. (9325060)
1997
44
Hydrops fetalis and neonatal leukemia in Down syndrome. (8718505)
1996
45
Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. (8947847)
1996
46
First-trimester biochemical screening for Down syndrome with the use of PAPP-A, AFP, and beta-hCG. (8843997)
1996
47
Thyroid antibodies are not a risk factor for pregnancies with Down syndrome. (7644435)
1995
48
Cigarette smoking and levels of maternal serum alpha-fetoprotein, unconjugated estriol, and hCG: impact on Down syndrome screening. (7682315)
1993
49
Clinical and biological characteristics of acute lymphocytic leukemia in children with Down syndrome. (2149960)
1990
50
Upside down ptosis in patients with Horner's syndrome. (6659903)
1983

Genetic Variations for Down Syndrome

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Expression for genes affiliated with Down Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome
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Pathways related to Down Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.8DSCAML1, DSCAM

Compounds for genes affiliated with Down Syndrome

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GO Terms for genes affiliated with Down Syndrome

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16Gene Ontology
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Biological processes related to Down Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:00741711.1RCAN1, S100B, DSCAML1, RCAN2
2calcium-mediated signalingGO:01972210.8RCAN2, RCAN1, RCAN3
3dendrite self-avoidanceGO:07059310.8DSCAML1, DSCAM
4negative regulation of cell adhesionGO:00716210.8DSCAM, DSCAML1
5nervous system developmentGO:00739910.7DYRK1A, DSCAM, SIM1, SIM2

Molecular functions related to Down Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:04815610.8DYRK1A, S100B

Products for genes affiliated with Down Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet