MCID: DWN001
MIFTS: 66

Down Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Down Syndrome

Aliases & Descriptions for Down Syndrome:

Name: Down Syndrome 12 71 50 25 52 41 3 42 14 38 69
Trisomy 21 71 50 25 3 69
Down's Syndrome 12 50 25 14
Complete Trisomy 21 Syndrome 12 29
Down's Syndrome - Trisomy 21 12
Trisomy 21 Syndrome 12
Downs Syndrome 12
G Trisomy 12
47,xx,+21 25
47,xy,+21 25
Trisomy G 25

Classifications:



External Ids:

Disease Ontology 12 DOID:14250
ICD10 33 Q90 Q90.9
ICD9CM 35 758.0
MeSH 42 D004314
UMLS 69 C0013080

Summaries for Down Syndrome

MedlinePlus : 41 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

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to leukemia, megakaryoblastic, with or without down syndrome, somatic and acute megakaryoblastic leukemia in down syndrome, and has symptoms including joint laxity, short neck and obesity. An important gene associated with Down Syndrome is DSCAM (DS Cell Adhesion Molecule). The drugs Metformin and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thyroid.

Disease Ontology : 12 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 : 25 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.

NIH Rare Diseases : 50 down syndrome is a chromosome disorder 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 also be born with various health concerns such as heart defects or digestive abnormalities. they also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and alzheimer disease. down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. treatment focuses on the specific symptoms in each person. last updated: 4/15/2015

CDC : 3 Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.

Wikipedia : 71 Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all... more...

Related Diseases for Down Syndrome

Diseases related to Down Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 295)
id Related Disease Score Top Affiliating Genes
1 leukemia, megakaryoblastic, with or without down syndrome, somatic 12.2
2 acute megakaryoblastic leukemia in down syndrome 11.9
3 down syndrome-related congenital heart disease 11.8
4 myeloid proliferations related to down syndrome 11.8
5 acute megakaryoblastic leukemia without down syndrome 11.8
6 myeloproliferative syndrome, transient 11.3
7 ayme-gripp syndrome 10.9
8 intellectual disability 10.9
9 macroglossia 10.9
10 syringoma 10.9
11 hypotonia 10.8
12 atrioventricular septal defect 4 10.5
13 atrioventricular septal defect 5 10.5
14 cystic lymphangioma 10.5
15 floppy infant syndrome 10.5
16 infantile hypotonia 10.5
17 leukemia 10.3
18 chromosome 11q duplication 10.2 AFP DYRK1A
19 trypanosomiasis, human east-african 10.1 AFP PAPPA
20 dementia 10.0
21 myeloid leukemia 10.0
22 neuronitis 10.0
23 thyroiditis 9.9
24 shwachman-diamond type metaphyseal dysplasia 9.9 AFP DSCAM DYRK1A GATA1 PAPPA RCAN1
25 atrioventricular septal defect 9.9
26 cerebritis 9.9
27 alzheimer disease 9.9
28 fragile x syndrome 9.9
29 hypothyroidism 9.9
30 lymphoblastic leukemia 9.9
31 duodenitis 9.8
32 obesity 9.8
33 megakaryocytic leukemia 9.8
34 sleep apnea 9.8
35 obstructive sleep apnea 9.8
36 heart disease 9.7
37 neural tube defects 9.7
38 endotheliitis 9.7
39 urethritis 9.7
40 pericardial effusion 9.7
41 hepatitis 9.7
42 posterior urethral valves 9.7
43 periodontitis 9.7
44 autism spectrum disorder 9.7
45 nephrocalcinosis 9.7
46 epilepsy 9.7
47 atlantoaxial subluxation 9.7
48 patau syndrome 9.7
49 cerebral palsy 9.7
50 dental caries 9.7

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



Diseases related to Down Syndrome

Symptoms & Phenotypes for Down Syndrome

Human phenotypes related to Down Syndrome:

32 (show all 47)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 short neck 32 HP:0000470
3 obesity 32 HP:0001513
4 hypothyroidism 32 HP:0000821
5 intellectual disability 32 HP:0001249
6 muscular hypotonia 32 HP:0001252
7 gait disturbance 32 HP:0001288
8 developmental regression 32 HP:0002376
9 macroglossia 32 HP:0000158
10 narrow palate 32 HP:0000189
11 cataract 32 HP:0000518
12 depressed nasal bridge 32 HP:0005280
13 type ii diabetes mellitus 32 HP:0005978
14 umbilical hernia 32 HP:0001537
15 short nose 32 HP:0003196
16 brachycephaly 32 HP:0000248
17 thick lower lip vermilion 32 HP:0000179
18 strabismus 32 HP:0000486
19 epicanthus 32 HP:0000286
20 microdontia 32 HP:0000691
21 flat face 32 HP:0012368
22 thickened nuchal skin fold 32 HP:0000474
23 abnormality of immune system physiology 32 HP:0010978
24 aganglionic megacolon 32 HP:0002251
25 myopia 32 HP:0000545
26 depressed nasal ridge 32 HP:0000457
27 clinodactyly of the 5th finger 32 HP:0004209
28 abnormality of the lymphatic system 32 HP:0100763
29 renal hypoplasia/aplasia 32 HP:0008678
30 prematurely aged appearance 32 HP:0007495
31 decreased fertility 32 HP:0000144
32 narrow mouth 32 HP:0000160
33 open mouth 32 HP:0000194
34 abnormality of the fontanelles or cranial sutures 32 HP:0000235
35 conductive hearing impairment 32 HP:0000405
36 upslanted palpebral fissure 32 HP:0000582
37 hypotrichosis 32 HP:0001006
38 brachydactyly syndrome 32 HP:0001156
39 sandal gap 32 HP:0001852
40 anal atresia 32 HP:0002023
41 downturned corners of mouth 32 HP:0002714
42 acute megakaryocytic leukemia 32 HP:0006733
43 impaired pain sensation 32 HP:0007328
44 bilateral single transverse palmar creases 32 HP:0007598
45 protruding tongue 32 HP:0010808
46 round ear 32 HP:0100830
47 abnormality of cardiovascular system morphology 32 HP:0030680

UMLS symptoms related to Down Syndrome:


joint laxity

Drugs & Therapeutics for Down Syndrome

Drugs for Down Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 519)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 1 657-24-9 14219 4091
2
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
3
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
4
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
6
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
7
Norepinephrine Approved Phase 4,Phase 2 51-41-2 439260
8
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
9
Menotropins Approved Phase 4 61489-71-2 5360545
10
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
11
Ondansetron Approved Phase 4,Phase 1,Phase 2 99614-02-5 4595
12
Montelukast Approved Phase 4 158966-92-8 5281040
13
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
14
Trandolapril Approved Phase 4 87679-37-6 5484727
15
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 1 155213-67-5 392622
16
Zinc Approved Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
17 Zinc sulfate Approved Phase 4 7733-02-0
18
Desogestrel Approved Phase 4 54024-22-5 40973
19
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
20
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
22
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
23
Milnacipran Approved Phase 4 92623-85-3 65833
24
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173
25
Indinavir Approved Phase 4,Phase 2,Phase 1 150378-17-9 5362440
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
28
Rivaroxaban Approved Phase 4 366789-02-8
29
Warfarin Approved Phase 4 81-81-2 6691 54678486
30
Allopurinol Approved Phase 4,Phase 1,Phase 2 315-30-0 2094
31
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
32
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
33
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
34
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
35
Norgestrel Approved Phase 4 6533-00-2 13109
36 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
37
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
38
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
39
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
40 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
43 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
44 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
45 Hormones Phase 4,Phase 3,Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
47 Diuretics, Potassium Sparing Phase 4
48 Sodium Channel Blockers Phase 4
49 Antiparkinson Agents Phase 4,Phase 3,Phase 2
50 Dopamine Agents Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 449)
id Name Status NCT ID Phase
1 Metformin in Step-down Regimen Versus Conventional Low Dose Step-up Protocol in Patients With PCOS Undergoing IVF Unknown status NCT01438190 Phase 4
2 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4
3 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4
4 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4
5 Menopur® Versus Follistim® in Polycystic Ovarian Syndrome (PCOS) Completed NCT00805935 Phase 4
6 Ondansetron for the Treatment of IBS With Diarrhoea (IBS-D) Completed NCT00745004 Phase 4
7 Tailored Antiplatelet Therapy Versus Recommended Dose of Prasugrel Completed NCT01538446 Phase 4
8 Montelukast in Bronchiolitis Obliterans Syndrome Completed NCT01211509 Phase 4
9 Metabolic Effects of Antihypertensive Drugs on People With Metabolic Syndrome (The MEAD Study) Completed NCT00887510 Phase 4
10 Atazanavir/Ritonavir and Zinc Pharmacokinetic Study Completed NCT01475227 Phase 4
11 Predictive Factors for Ovarian Stimulation Using a Fixed Daily Dose of 200 IU Recombinant FSH (Study 142003)(P05696) Completed NCT00778999 Phase 4
12 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4
13 Study of Milnacipran in Patients With Inadequate Response to Duloxetine for the Treatment of Fibromyalgia Completed NCT01077375 Phase 4
14 The Rifaximin Study in CVID Completed NCT01946906 Phase 4
15 Influence of the MDR1 Genotype on Blood Levels of Indinavir and Saquinavir in Healthy Volunteers Completed NCT00050180 Phase 4
16 Platelet-rich Plasma vs. Whole Blood for Gluteus Medius Tendinopathy Recruiting NCT02978833 Phase 4
17 Effect on Vascular Calcification of Replacing Warfarin by Rivaroxaban With or Without VitK2 in Hemodialysis Patients Recruiting NCT02610933 Phase 4
18 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4
19 Allopurinol in Acute Coronary Syndrome Terminated NCT01457820 Phase 4
20 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4
21 Efficacy of Gralise® for Chronic Pelvic Pain Terminated NCT01678911 Phase 4
22 Pituitary Down-regulation Before IVF for Women With Endometriosis Terminated NCT01757249 Phase 4
23 The Role of Synbiotics in Reducing Post-Operative Infections in Patients Undergoing Cardiac Surgery: A Pilot Study Terminated NCT00164099 Phase 4
24 IVF Versus Gonadotropin Therapy in Women With CC Resistant PCOS Withdrawn NCT02458963 Phase 4
25 Cymbalta for Fibromyalgia Pain - Predictive Value of Small Fiber Changed Withdrawn NCT01619566 Phase 4
26 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3
27 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
28 Arterial Properties of Thoracic Aorta Disease Unknown status NCT01068691 Phase 3
29 Rehabilitation With Patterned Electrical Neuromuscular Stimulation for Patients With Patellofemoral Pain Unknown status NCT02441712 Phase 2, Phase 3
30 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
31 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3
32 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3
33 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3
34 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
35 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3
36 Dexamethasone Compared With Prednisone During Induction Therapy and MTX With or Without Leucovorin During Maintenance Therapy in Treating Patients With Newly Diagnosed High-Risk Acute Lymphoblastic Leukemia Completed NCT00075725 Phase 3
37 Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3
38 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3
39 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3
40 Efficacy of Amitriptyline for Painful Bladder Syndrome (PBS) Completed NCT00124306 Phase 3
41 Long Term Study of RBP 7000 in the Treatment of Subjects With Schizophrenia Completed NCT02203838 Phase 3
42 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
43 Effect of Weight and Insulin Sensitivity on Reproductive Function in PCOS Completed NCT01482286 Phase 3
44 Efficacy of an Encapsulated Probiotic Bifidobacterium Infantis 35624 in Irritable Bowel Syndrome Completed NCT00135031 Phase 3
45 A Clinical Study in the Use of Orthotics in Treating Pain in the Front of the Knee Completed NCT00118521 Phase 3
46 Open-Label, Safety Study of Lofexidine Completed NCT02363998 Phase 3
47 Safety and Efficacy of Buprenorphine Transdermal System (BTDS) in Subjects With Chronic Nonmalignant Pain Completed NCT00312195 Phase 3
48 Novel Use of (Oral) Ketotifen for the Treatment of Fibromyalgia: A Pilot Study Completed NCT01553318 Phase 3
49 PERgoveriS In Stratified Treatment for Assisted Reproductive Technique Completed NCT01297465 Phase 3
50 Safety and Efficacy of MBI 226 for the Prevention of Central Venous Catheter-Related Bloodstream Infections Completed NCT00027248 Phase 3

Search NIH Clinical Center for Down Syndrome

Cochrane evidence based reviews: down syndrome

Genetic Tests for Down Syndrome

Genetic tests related to Down Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome 29

Anatomical Context for Down Syndrome

MalaCards organs/tissues related to Down Syndrome:

39
Brain, Heart, Thyroid, Testes, Myeloid, Eye, Bone

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 1738)
id Title Authors Year
1
The physiological phosphorylation of tau is critically changed in fetal brains of individuals with Down syndrome. ( 28455903 )
2017
2
Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer's Disease Type Pathology in vitro. ( 28059787 )
2017
3
Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline. ( 28482213 )
2017
4
Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature. ( 28507273 )
2017
5
The Efficacy of Adenotonsillectomy for Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review. ( 28485249 )
2017
6
Second-Trimester Ultrasound for Adjusting Patient's Risk for Down Syndrome. ( 28457116 )
2017
7
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
8
Prognostic Impact of Specific Molecular Profiles in Pediatric Acute Megakaryoblastic Leukemia in Non-Down Syndrome. ( 28063190 )
2017
9
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ( 28463681 )
2017
10
Epigallocatechin-3-gallate (EGCG) consumption in the Ts65Dn model of Down syndrome fails to improve behavioral deficits and is detrimental to skeletal phenotypes. ( 28478033 )
2017
11
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
12
Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction. ( 28069794 )
2017
13
Prenatal Phenotype of Down Syndrome Using Three-Dimensional Virtual Reality. ( 28483332 )
2017
14
Altered Peripheral Blood Myeloid Cell Subpopulations in Children With Down Syndrome and Pulmonary Hypertension. ( 28060127 )
2017
15
Aiding risk information learning through simulated experience (ARISE): Using simulated outcomes to improve understanding of conditional probabilities in prenatal Down syndrome screening. ( 28526191 )
2017
16
Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first. ( 28453864 )
2017
17
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells. ( 28087733 )
2017
18
POSEIDON - Bringing Assistive Technology to People with Down Syndrome: Results of a Three Year European Project. ( 28508793 )
2017
19
Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual functioning. ( 28067728 )
2017
20
A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia. ( 28453471 )
2017
21
Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome. ( 28092296 )
2017
22
Down syndrome critical region 1 positively correlates with angiogenesis in hypopharyngeal cancer. ( 27922696 )
2017
23
Changes in objectively measured physical activity in adolescents with Down syndrome: the UP&DOWN longitudinal study. ( 28090738 )
2017
24
Vocalization patterns in young children with Down syndrome: Utilizing the language environment analysis (LENA) to inform behavioral phenotypes. ( 28485651 )
2017
25
Dietary practices of children and adolescents with Down syndrome. ( 28078918 )
2017
26
The effectiveness of the computerized visual perceptual training program on individuals with Down syndrome: An fMRI study. ( 28535411 )
2017
27
Determining the relative contribution of retinal disparity and blur cues to ocular accommodation in Down syndrome. ( 28071728 )
2017
28
Hippocampal overexpression of Down syndrome cell adhesion molecule in amyloid precursor protein transgenic mice. ( 28513774 )
2017
29
Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. ( 28461505 )
2017
30
Detection of a clone-specific GATA1 mutation to monitor treatment response and involvement of a monozygotic twin in myeloid leukemia of Down syndrome. ( 28074551 )
2017
31
Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. ( 28522103 )
2017
32
Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea. ( 28055122 )
2017
33
Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature. ( 28028114 )
2016
34
A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome. ( 28035593 )
2016
35
Altered immune parameters correlate with infection-related hospitalizations in children with Down syndrome. ( 27166175 )
2016
36
Retinal Detachment in Down Syndrome: Characteristics and Surgical Outcomes. ( 27123341 )
2016
37
Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome. ( 27168113 )
2016
38
Cognitive stimulation of pupils with Down syndrome: A study of inferential talk during book-sharing. ( 27214682 )
2016
39
Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation. ( 26230373 )
2016
40
Evidence that the rab5 effector APPL1 mediates APP-I^CTF-induced dysfunction of endosomes in Down syndrome and Alzheimer's disease. ( 26194181 )
2016
41
Growth curves in Down syndrome with congenital heart disease. ( 27656850 )
2016
42
Increased MTHFR promoter methylation in mothers of Down syndrome individuals. ( 26926955 )
2016
43
Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome. ( 28027715 )
2016
44
Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score. ( 27173257 )
2016
45
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. ( 26995701 )
2016
46
Ten-year trends in prevalence of Down syndrome in a developing country: impact of the maternal age and prenatal screening. ( 27639605 )
2016
47
Fully-Automated I1MRI Morphometric Phenotyping of the Tc1 Mouse Model of Down Syndrome. ( 27658297 )
2016
48
Supportive care utilization and treatment toxicity in children with Down syndrome and acute lymphoid leukaemia at free-standing paediatric hospitals in the United States. ( 27161549 )
2016
49
Comparison of Static Balance on a Platform in Young Adults With Down Syndrome Before and After a Dance Program. ( 27623608 )
2016
50
Prevalence and patterns of permanent tooth agenesis in individuals with Down syndrome: a meta-analysis. ( 27311636 )
2016

Variations for Down Syndrome

Copy number variations for Down Syndrome from CNVD:

7 (show all 17)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 109509 17 26446120 26728821 Microduplications NF1 Down syndrome
2 157042 21 1 46944323 Trisomy 21 Down syndrome
3 157043 21 1 48129895 Copy number Down syndrome
4 158156 21 30500000 34700000 Triplication SYNJ1 Down syndrome
5 158600 21 34648096 34829283 Gain KCNE1 Down syndrome
6 158601 21 34648096 34829283 Gain KCNE2 Down syndrome
7 158634 21 34768340 34953503 Deletion Down syndrome
8 158784 21 36700000 41400000 Duplication Down syndrome
9 158857 21 37450801 37931211 Deletion Down syndrome
10 158867 21 37536287 37704000 Deletion Down syndrome
11 158887 21 37717328 37872927 Deletion Down syndrome
12 159445 21 42600000 48129895 Copy number COL6A1 Down syndrome
13 159886 21 45593807 45808641 Deletion Down syndrome
14 303383 21 37359533 37367328 Insertion PIGP Down syndrome
15 303384 21 37367440 37497278 Insertion TTC3 Down syndrome
16 303385 21 37517595 37561703 Insertion DSCR3 Down syndrome
17 303386 21 37661728 37809549 Insertion DYRK1A Down syndrome

Expression for Down Syndrome

Search GEO for disease gene expression data for Down Syndrome.

Pathways for Down Syndrome

GO Terms for Down Syndrome

Cellular components related to Down Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular_component GO:0005575 9.02 DSCR10 DSCR4 DSCR8 DSCR9 RCAN2

Biological processes related to Down Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 biological_process GO:0008150 9.72 DSCR10 DSCR3 DSCR4 DSCR8 DSCR9
2 central nervous system development GO:0007417 9.43 DSCAML1 RCAN1 S100B
3 regulation of catalytic activity GO:0050790 9.33 RCAN1 RCAN2 RCAN3
4 calcium-mediated signaling GO:0019722 9.13 RCAN1 RCAN2 RCAN3
5 regulation of calcineurin-NFAT signaling cascade GO:0070884 8.8 RCAN1 RCAN2 RCAN3

Molecular functions related to Down Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tau protein binding GO:0048156 8.96 DYRK1A S100B
2 calcium-dependent protein serine/threonine phosphatase regulator activity GO:0008597 8.8 RCAN1 RCAN2 RCAN3

Sources for Down Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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