MCID: DWN001
MIFTS: 62

Down Syndrome malady

Genetic diseases category

Summaries for Down Syndrome

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42NIH Rare Diseases, 33MedlinePlus, 3CDC, 21Genetics Home Reference, 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.

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.

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.

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, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 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:

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Drug clinical trials:

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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
Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? (24002925)
2014
2
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype. (24334122)
2014
3
Systematic review of the clinical prediction rules for the calculation of the risk of Down syndrome based on ultrasound findings in the second trimester of pregnancy. (24420977)
2014
4
Down syndrome with end-stage renal disease. (24426250)
2013
5
Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England. (23297122)
2013
6
Defective thymic progenitor development and mature T-cell responses in a mouse model for Down syndrome. (23432468)
2013
7
Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. (23149966)
2013
8
Pharyngeal dysphagia in children with Down syndrome. (23525851)
2013
9
Author's response regarding "MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility". (23553406)
2013
10
Editorial: Pharmacological Intervention for Down Syndrome Cognitive Deficits: Emerging Drug Targets. (24152331)
2013
11
Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome. (23830204)
2013
12
DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome. (23081874)
2013
13
KIF21A mRNA expression in patients with Down syndrome. (22968744)
2013
14
Physicians compliance during maintenance therapy in children with Down syndrome and acute lymphoblastic leukemia. (23138181)
2013
15
Thyroid functions of neonates with Down syndrome. (22985522)
2012
16
Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome. (23063134)
2012
17
Growth and development profile of Indian children with Down syndrome. (22962246)
2012
18
Anti-Inflammatory Effect of Exercise, Via Reduced Leptin Levels, in Obese Women with Down Syndrome. (23170751)
2012
19
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. (21159028)
2011
20
Hypothyroidism presenting as cardiac tamponade in Down syndrome. (21888163)
2011
21
Estrogen receptor-Beta variants are associated with increased risk of Alzheimer's disease in women with down syndrome. (22156442)
2011
22
Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome. (21287369)
2011
23
Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: an aid for treatment planning. (20451772)
2010
24
Identification of dysregulated genes in lymphocytes from children with Down syndrome. (18356936)
2008
25
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. (18771760)
2008
26
Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. (18273817)
2008
27
Down-regulation of Fas-ligand mRNA in SjAPgren's syndrome patients with enlarged exocrine glands. (17966039)
2007
28
Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down syndrome and normal brain. (16904243)
2007
29
JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. (17252020)
2007
30
The ups and downs of BDNF in Rett syndrome. (16446133)
2006
31
First-trimester maternal dried blood Down syndrome screening marker levels in early pregnancy loss. (17009346)
2006
32
Predicting the result of additional second-trimester markers from a woman's first-trimester marker profile: a new concept in Down syndrome screening. (16231324)
2005
33
Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome. (16113234)
2005
34
Increased MAP kinase activity in Alzheimer's and Down syndrome but not in schizophrenia human brain. (15147305)
2004
35
VEGF selectively induces Down syndrome critical region 1 gene expression in endothelial cells: a mechanism for feedback regulation of angiogenesis? (15358155)
2004
36
Vascular endothelial growth factor- and thrombin-induced termination factor, Down syndrome critical region-1, attenuates endothelial cell proliferation and angiogenesis. (15448146)
2004
37
Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome. (12626825)
2003
38
Characterization of Caenorhabditis elegans homologs of the Down syndrome candidate gene DYRK1A. (12618396)
2003
39
Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis. (12375682)
2002
40
Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5). (11331941)
2001
41
Down syndrome patients start early prenatal life with normal cholinergic, monoaminergic and serotoninergic innervation. (11771753)
2001
42
Decreased ligand affinity rather than glucocorticoid receptor down-regulation in patients with endogenous Cushing's syndrome. (10802524)
2000
43
A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling. (10722714)
2000
44
Down syndrome in association with features of the androgen insensitivity syndrome. (8818943)
1996
45
A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region. (8905236)
1996
46
Screening for Down syndrome during the first and second trimesters: impact of risk estimation parameters. (8521600)
1995
47
High expression on Kunitz-type protease inhibitor-containing substances in the cerebral vessels of patients with Down syndrome. (7761983)
1994
48
Omphalocele in Down syndrome. (7993505)
1994
49
Chromosomal protein HMG-14 gene maps to the Down syndrome region of human chromosome 21 and is overexpressed in mouse trisomy 16. (2140193)
1990
50
Correction of atrioventricular septal defect. Results influenced by Down syndrome? (2530895)
1989

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

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