MCID: DWN001
MIFTS: 58

Down Syndrome malady

Genetic category

Summaries for Down Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 3CDC, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 mental retardation and n syndrome. An important gene associated with Down Syndrome is DCR (Down syndrome chromosome region), and among its related pathways is DSCAM interactions. Affiliated tissues include ovary, liver and tongue.

MedlinePlus:34 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:64 Down syndrome (DS) or Down\'s syndrome, also known as trisomy 21, is a genetic disorder caused by the... more...

Description from OMIM:47 190685

Aliases & Classifications for Down Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 22GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

down syndrome 8 64 43 21 47 10 45 34 61
down's syndrome 8 43 21
trisomy 21 64 43 21
complete trisomy 21 syndrome 8 22
47,xx,+21 64 21
47,xy,+21 64 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


External Ids:

Disease Ontology8 DOID:14250
MeSH35 D004314
ICD9CM27 758.0
OMIM47 190685
ICD1025 Q90, Q90.9

Related Diseases for Down Syndrome

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

190685

Drugs & Therapeutics for Down Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Down Syndrome:

33
Ovary, Liver, Tongue, Spinal cord, Brain, Uterus, Bone marrow, Thymus, Cortex, Cerebellum, Heart, Skeletal muscle, Small intestine, Pancreas, Thyroid, Placenta, Prostate, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Temporal lobe, Amygdala, Fetal liver, Fetal thyroid, Uterus corpus

Animal Models for Down Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Down Syndrome

Sources:
51PubMed
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Articles related to Down Syndrome:

(show top 50)    (show all 524)
idTitleAuthorsYear
1
Profile of hypothyroidism in Down's syndrome. (23748065)
2013
2
The effect of hereditary versus acquired thrombophilia on triple test Down's syndrome screening. (23292892)
2013
3
Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome. (22334035)
2012
4
Transient myeloproliferative disorder in Down's syndrome. (23032858)
2012
5
Graves' disease in a Down's syndrome patient responds well to radioiodine rather than antithyroid drugs. (21932614)
2011
6
Intersectin 1 contributes to phenotypes in vivo: implications for Down's syndrome. (21876463)
2011
7
Elastosis perforans serpiginosa in a patient with Down's syndrome. (21152796)
2010
8
Cerebral amyloid angiopathy as a cause of an extensive brain hemorrhage in adult patient with Down's syndrome - a case report. (20925005)
2010
9
Influence of Down's syndrome on management and outcome of patients with congenital intrinsic duodenal obstruction. (20638526)
2010
10
Functional differences between myeloid leukemia-initiating and transient leukemia cells in Down's syndrome. (20220775)
2010
11
Screening for Down's syndrome in the first trimester: combined risk calculation, methodology, and validation of a web-based system. (19330568)
2009
12
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. (18805579)
2008
13
Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. (18410651)
2008
14
Prevalence of cataract in adult Down's syndrome patients aged 28 to 83 years. (18034878)
2007
15
Patterns of syntactic development in children with Williams syndrome and Down's syndrome: evidence from passives and wh-questions. (17701757)
2007
16
Concomitant aberrant overexpression of RUNX1 and NCAM in regenerating bone marrow of myeloid leukemia of Down's syndrome. (17043020)
2006
17
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
2005
18
ets-2 promotes the activation of a mitochondrial death pathway in Down's syndrome neurons. (15745955)
2005
19
Posterior urethral valves with Downs syndrome presenting as scrotal urinary sinuses. (15523141)
2004
20
A calcineurin inhibitory protein overexpressed in Down's syndrome interacts with the product of a ubiquitously expressed transcript. (15264020)
2004
21
Reactive oxygen metabolites and prooxidant status in children with Down's syndrome. (11824651)
2001
22
Copper, ceruloplasmin and superoxide dismutase (SOD1) in patients with Down's syndrome. (11903959)
2001
23
Vascular endothelial growth factor and placenta growth factor concentrations in Down's syndrome and control pregnancies. (11470864)
2001
24
Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect. (10946038)
2000
25
Second trimester prenatal screening for Down's syndrome using alpha-fetoprotein and free beta hCG: a seven year review. (10609723)
1999
26
Reverse relationship between beta-amyloid precursor protein and beta-amyloid peptide plaques in Down's syndrome versus sporadic/familial Alzheimer's disease. (9928821)
1999
27
Serum markers for Down's syndrome in women who have had in vitro fertilisation: implications for antenatal screening. (10609726)
1999
28
Increased glyceraldehyde 3-phosphate dehydrogenase levels in the brain of patients with Down's syndrome. (10025719)
1999
29
Apolipoprotein E genotype in senile dementia and Down's syndrome. (18653122)
1998
30
Antenatal screening for Down's syndrome. (9494915)
1997
31
Fibroblasts of patients affected by Down's syndrome oversecrete amyloid precursor protein and are hyporesponsive to protein kinase C stimulation. (8857747)
1996
32
Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features. (8807765)
1996
33
Apolipoprotein E allele distribution in parents of Down's syndrome children. (8622392)
1996
34
Screening for Down's syndrome--results of a 3-year study]. (8689003)
1996
35
ApoE genotype and Down's syndrome. (7909036)
1994
36
Taking account of vaginal bleeding in screening for Down's syndrome. (7528053)
1994
37
Galaninergic innervation of the cholinergic vertical limb of the diagonal band (Ch2) and bed nucleus of the stria terminalis in aging, Alzheimer's disease and Down's syndrome. (7505157)
1993
38
Prenatal diagnosis of transient myeloproliferative disorder via percutaneous umbilical blood sampling. Report of two cases in fetuses affected by Down's syndrome. (1532471)
1992
39
Differential expression of lymphocyte function-associated antigen (LFA-1) on peripheral blood leucocytes from individuals with Down's syndrome. (1348667)
1992
40
Slowed synthesis of DNA and methionine is a pathogenetic mechanism common to dementia in Down's syndrome, AIDS and Alzheimer's disease? (1535413)
1992
41
Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in pregnancies with insulin-dependent diabetes: implications for screening for Down's syndrome. (1372176)
1992
42
Acute myeloid leukemia (AML) in Down's syndrome is highly responsive to chemotherapy: experience on Pediatric Oncology Group AML Study 8498. (1384797)
1992
43
Unusual diffuse liver fibrosis accompanying transient myeloproliferative disorder in Down's syndrome: a report of four autopsy cases and proposal of a hypothesis. (1387814)
1992
44
Reduced fetal hepatic alpha-fetoprotein levels in Down's syndrome. (1704627)
1990
45
Immunocytochemical distribution of S-100 protein in patients with Down's syndrome. (2147533)
1990
46
Isolated complete congenital heart block diagnosed prenatally in Down's syndrome; a case report. (2526759)
1989
47
Infants with Down's syndrome. Use of cytogenetic studies and in vitro colony assay for granulocyte progenitor to distinguish acute nonlymphocytic leukemia from a transient myeloproliferative disorder. (2955884)
1987
48
Corpulmonale due to laryngomalacia in Down's syndrome. (6211410)
1981
49
Down's syndrome associated with cystinuria. (4239580)
1968
50
Thrombocythemia in the myeloproliferative disorder of Down's syndrome. (4229443)
1967

Genetic Variations for Down Syndrome

Expression for genes affiliated with Down Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome
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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

GO Terms for genes affiliated with Down Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet