MCID: DWN001
MIFTS: 70

Down Syndrome

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Down Syndrome

MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 57 12 75 53 25 59 37 13 55 43 3 44 15 38 17 72 33
Trisomy 21 57 53 25 59 3 15 72
Complete Trisomy 21 Syndrome 12 29 6 40
Down's Syndrome 12 53 25
Down Syndrome, Susceptibility to 6
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

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
meiotic origin >95% maternal, mostly meiosis i
increased recurrence risk with parental translocation
incidence, 1 in 650-1000 live births


HPO:

32
down syndrome:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:14250
OMIM 57 190685
KEGG 37 H01552
ICD9CM 35 758.0
MeSH 44 D004314
NCIt 50 C2993
SNOMED-CT 68 41040004
ICD10 33 Q90 Q90.9
MESH via Orphanet 45 D004314
ICD10 via Orphanet 34 Q90.0 Q90.1 Q90.2 more
UMLS via Orphanet 73 C0013080
Orphanet 59 ORPHA870
MedGen 42 C0013080
UMLS 72 C0013080 C3537167

Summaries for Down Syndrome

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. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia). Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals' speech and language develop later and more slowly than in children without Down syndrome, and affected individuals' speech may be more difficult to understand. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome usually develop this condition in their fifties or sixties.

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to chromosomal disease and acute megakaryoblastic leukemia in down syndrome. An important gene associated with Down Syndrome is DCR (Down Syndrome Chromosome Region), and among its related pathways/superpathways is MicroRNAs in cancer. The drugs Sodium citrate and Histamine have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and testes, and related phenotypes are short neck and intellectual disability

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.

NIH Rare Diseases : 53 Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, 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, as well as short stature and a single deep crease across the center of the palm. 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. There is ongoing research about the specific genes causing the disease aiming to find more effective treatments.

OMIM : 57 Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. (190685)

MedlinePlus : 43 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. Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

KEGG : 37
Down syndrome (DS), a genetic condition characterized by mental retardation and distinctive facial appearance, is caused by trisomy of chromosome 21 (HSA21). Down syndrome (DS) is the most common chromosomal malformation in newborns. Throughout the world, the overall prevalence of DS is 1 per 1,000 live births, although in recent years this figure has been increasing. Roughly 95% of cases of DS are due to the presence of an extra (third) copy of HSA21. Most often, the non-disjunction event leading to DS occurs in maternal meiosis I. In about 5% of patients, 1 copy is translocated to another acrocentric chromosome, most often chromosome 14 or 21. In 2 to 4% of cases with free trisomy 21 there is recognizable mosaicism for a trisomic and a normal cell line. DS occurs at a much higher incidence in older mothers. Nonetheless, the vast majority of DS births are to younger mothers. Clinical and experimental studies have shown that age independent DNA hypo-methylation is associated with chromosomal instability and abnormal segregation. Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are quite variable from person to person and include learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. This phenotypic variation is likely to be caused by a combination of environmental and genetic causes. Genetic polymorphisms in both Hsa21 and non-Hsa21 genes may account for much of this variation. Trisomy of Hsa21 has a significant impact on the development of many tissues, most notably the heart and the brain. A recent paper has suggested that RCAN1 and DYRK1A, localized in the Down syndrome critical region (DSCR) of HSA21, may have an impact on the development of multiple tissues.

Wikipedia : 75 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 1418)
# Related Disease Score Top Affiliating Genes
1 chromosomal disease 29.7 SIM2 RCAN1 GATA1 DYRK1A DSCAM AFP
2 acute megakaryoblastic leukemia in down syndrome 12.4
3 acute megakaryoblastic leukemia without down syndrome 12.3
4 myeloid proliferations related to down syndrome 12.2
5 myeloproliferative syndrome, transient 12.1
6 ayme-gripp syndrome 11.7
7 atrioventricular septal defect 11.4
8 nuchal bleb, familial 11.4
9 megakaryocytic leukemia 11.4
10 hypotonia 11.3
11 macroglossia 11.3
12 syringoma 11.3
13 cystic lymphangioma 11.2
14 orofaciodigital syndrome viii 11.2
15 coloboma of macula 11.2
16 ring chromosome 21 11.2
17 chromosomal triplication 11.1
18 atrioventricular septal defect 4 10.9
19 atrioventricular septal defect 5 10.9
20 congenital extrahepatic portosystemic shunt 10.9
21 floppy infant syndrome 10.9
22 infantile hypotonia 10.9
23 alacrima, achalasia, and mental retardation syndrome 10.8
24 alzheimer disease 10.8
25 hypothyroidism 10.6
26 autism 10.6
27 sleep apnea 10.6
28 myeloproliferative neoplasm 10.5
29 heart septal defect 10.5
30 lymphocytic leukemia 10.5
31 leukemia 10.5
32 leukemia, acute myeloid 10.5
33 dementia 10.5
34 myeloid leukemia 10.5
35 leukemia, acute lymphoblastic 10.5
36 nondisjunction 10.5
37 autism spectrum disorder 10.4
38 ventricular septal defect 10.4
39 acute leukemia 10.4
40 pulmonary hypertension 10.4
41 neural tube defects 10.4
42 47,xyy 10.4
43 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
44 fragile x syndrome 10.4
45 celiac disease 1 10.4
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
47 williams-beuren syndrome 10.3
48 learning disability 10.3
49 strabismus 10.3
50 mechanical strabismus 10.3

Comorbidity relations with Down Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis

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:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
6 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
7 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
8 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
9 joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001388
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
12 round ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0100830
13 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
14 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
15 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
16 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
17 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
18 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
19 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
20 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
21 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
22 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
23 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
24 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
25 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
26 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
27 prematurely aged appearance 59 32 frequent (33%) Frequent (79-30%) HP:0007495
28 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
29 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
30 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
31 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
32 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
33 protruding tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010808
34 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
35 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
36 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
37 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
38 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
39 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
40 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
41 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
42 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
43 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
44 hypotrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001006
45 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
46 acute megakaryocytic leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006733
47 impaired pain sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007328
48 malar flattening 32 HP:0000272
49 abnormality of the dentition 59 Frequent (79-30%)
50 microtia 32 HP:0008551

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism

Head And Neck Head:
brachycephaly

Neoplasia:
acute megakaryocytic leukemia
leukemia (both all and aml)

Skeletal Hands:
single transverse palmar crease
short, broad hands
fifth finger mid-phalanx hypoplasia

Neurologic Central Nervous System:
alzheimer disease
mental retardation
hypotonia, poor moro reflex

Abdomen Gastrointestinal:
imperforate anus
hirschsprung disease
duodenal stenosis/atresia

Head And Neck Ears:
conductive hearing loss
small ears
folded helix

Head And Neck Face:
flat facial profile

Hematology:
leukemoid reactions

Growth Height:
short stature

Skeletal Limbs:
joint laxity

Head And Neck Mouth:
protruding tongue

Skin Nails Hair Skin:
single transverse palmar crease
excess nuchal skin

Skeletal Spine:
atlantoaxial instability

Cardiovascular Heart:
congenital heart defect
atrioventricular canal

Head And Neck Eyes:
epicanthal folds
upslanting palpebral fissures
iris brushfield spots

Skeletal Pelvis:
hypoplastic iliac wings
shallow acetabulum

Clinical features from OMIM:

190685

Drugs & Therapeutics for Down Syndrome

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

(show top 50) (show all 1700)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Histamine Approved, Investigational Phase 4 51-45-6 774
3
Misoprostol Approved Phase 4 59122-46-2 5282381
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
6
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Finasteride Approved Phase 4 98319-26-7 57363
9
Fenofibrate Approved Phase 4 49562-28-9 3339
10
Cefditoren Approved, Investigational Phase 4 104145-95-1, 117467-28-4 9870843 9571074
11
Tranexamic Acid Approved Phase 4 1197-18-8 5526
12
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
13
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
14
leucovorin Approved Phase 4 58-05-9 143 6006
15
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
16
Nicotine Approved Phase 4 54-11-5 942 89594
17
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
18
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
19
Topiramate Approved Phase 4 97240-79-4 5284627
20
Eplerenone Approved Phase 4 107724-20-9 150310 443872
21
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
22
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
23
Ciclesonide Approved, Investigational Phase 4 126544-47-6, 141845-82-1 444033
24
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
25
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
26
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
27
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
28
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
29
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
30
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
33
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
34
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
35
Valganciclovir Approved, Investigational Phase 4 175865-60-8 64147
36
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
37
Abciximab Approved Phase 4 143653-53-6
38
Lixisenatide Approved Phase 4 320367-13-3
39
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
40
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
41
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
42
Sertraline Approved Phase 4 79617-96-2 68617
43
Bromfenac Approved Phase 4 91714-94-2 60726
44
Cetirizine Approved Phase 4 83881-51-0 2678
45
Ribavirin Approved Phase 4 36791-04-5 37542
46
Methadone Approved, Illicit Phase 4 76-99-3 4095
47
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
48
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
49
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
50
Terbutaline Approved Phase 4 23031-25-6 5403

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Bronchiolitis All-study, SE-Norway What is the Optimal Inhalation Treatment for Children 0-12 Months With Acute Bronchiolitis? Unknown status NCT00817466 Phase 4 Racemic adrenaline;Isotonic saline
2 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
3 High Dose Icotinib in Advanced Non-small Cell Lung Cancer With EGFR 21 Exon Mutation (INCREASE): a Randomized, Open-label Study Unknown status NCT02404675 Phase 4 icotinib
4 Endometrial Preparation Before Operative Hysteroscopy in Premenopausal Women Unknown status NCT02440750 Phase 4 Dienogest;Ulipristal acetate
5 Ability of Lactobacillus Kefiri LKF01 (DSM32079) to Colonize the Intestinal Environment and Modify the Gut Microbiota Composition of Newborns Born by Caesarian Section Unknown status NCT03154866 Phase 4
6 Safety and Immune Response to Adjuvanted A(H1N1)v Influenza Vaccine in HIV-1 Infected and Immunosuppressed Adults Unknown status NCT01017172 Phase 4
7 Role of Sildenafil Citrate in Patients With Unexplained Recurrent Miscarriages: a Randomized Clinical Trial Unknown status NCT01419392 Phase 4 Sildenafil citrate;matching placebo
8 Effect of Sildenafil Citrate on the Outcome of in Vitro Fertilization After Multiple IVF Failures Attributed to Poor Endometrial Development Unknown status NCT03044561 Phase 4 Sildenafil Citrate;matching placebo
9 Clinical Trial Program of a Medical Instrument Product Unknown status NCT01157455 Phase 4 Aspirin;Clopidogrel;Heparin or Bivalirudin
10 Phase 4 Study Comparison of Two Combined Oral Contraceptive Regimens and an Intravaginal Hormonal Ring Against Placebo for Management of Bleeding Problems in Women Using Implanon, the Sub-dermal Contraceptive Implant Unknown status NCT01384331 Phase 4 Marvelon
11 Enhancement of Learning Associated Neural Plasticity by Selective Serotonin Reuptake Inhibitors Unknown status NCT02753738 Phase 4 Escitalopram;Placebo
12 A Randomized Prospective Clinical Trial of Paclitaxel in Combination With Carboplatin Versus Paclitaxel Plus Epirubicin as First-Line Treatment in Metastatic Breast Cancer Unknown status NCT02207361 Phase 4 Paclitaxel, Carboplatin;Paclitaxel, Epirubicin
13 Continuous Versus Cyclic Use of Oral Contraceptives Following Surgery for Symptomatic Endometriosis Unknown status NCT02237131 Phase 4 Oral contraceptives cyclic;Oral contraceptives continuous
14 Effects of Cerebrolysin Combined With Rehabilitation on Motor Recovery in Patients With Severe Motor Involvement at Subacute Phase of Stroke Unknown status NCT02768571 Phase 4 Cerebrolysin;Placebo
15 The Effect of 21-Days Intranasal Oxytocin on Clinical Symptoms and Social Function in Patients With Post Traumatic Stress Disorder (PTSD), a Randomized Controled Trail Unknown status NCT02336568 Phase 4 Oxytoine;PLACEBO
16 Randomized Phase IV Trial to Compare Cetuximab With Concomitant Radiation Therapy With Concomitant Mitomycin-C and 5-Fluorouracil With Radiation Therapy for Locally Advanced Squamous Cell Carcinomas of the Head and Neck Unknown status NCT02015650 Phase 4 Cetuximab;Mitomycin-C/ 5-Fluorouracil
17 Cross-reactivity and Tolerability of Ertapenem in Patients With IgE-mediated Allergy to Beta-lactams Unknown status NCT01159379 Phase 4 ertapenem
18 Phase IV Study of the Efficacy of Entecavir in Patients With Chronic Hepatitis B Virus Infection and Persistently Normal Alanine Aminotransferase Unknown status NCT01833611 Phase 4 Entecavir;placebo
19 A Randomized Controlled Multi-center Clinical Trial on Treatment of Stage I/II NK/T Cell Lymphoma With DDGP Regiment (Gemcitabine,Pegaspargase,Cisplatin,Dexamethasone) Unknown status NCT01501136 Phase 4
20 The Changes of Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives With Antiandrogenic Activity, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
21 What Duration of Intravenous Antibiotic Therapy Should be Used in the Treatment of Infective Exacerbations of Cystic Fibrosis Chronically Colonised With Pseudomonas Aeruginosa Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
22 Kinetics of the Finasteride Prostate Induced Apoptosis Unknown status NCT00130767 Phase 4 finasteride
23 A Randomized,Double-blind,Placebo-Controlled,Multicenter Clinical Trail of Chemotherapy Combined With Yangzhengxiaoji Capsule in Patients With Advanced Non-Small Cell Lung Cancer Unknown status NCT02195453 Phase 4 Yangzhengxiaoji Capsule;Placebo Capsule
24 Multicentric Evaluation of a Daily Nicotine Patch Administration on Mechanical Ventilation Weaning in Smoking Patients Hospitalized in Intensive Care Unit Unknown status NCT01104896 Phase 4 Nicotine patch;Placebo
25 Randomized, Open Label, Positive Controlled, Multicenter Trial to Evaluate Icotinib as First-line and Maintenance Treatment in EGFR Mutated Patients With Lung Adenocarcinoma Unknown status NCT01665417 Phase 4 Experimental;Chemotherapy;Chemotherapy
26 A Randomized Controlled Trial to Compare Sublingual and Buccal Misoprostol Regimens After Mifepristone for Termination of Pregnancy 13 - 21 Weeks From Last Menstrual Period (LMP) Unknown status NCT02708446 Phase 4 Mifepristone;Buccal misoprostol;Sublingual misoprostol
27 Randomized Double Blinded Trial to Investigate Effects of an Enteral Nutritional Supplement Enriched With Eicosapentaenoic Acid on Body Composition,Complications,Stress Response,Immune Function & Quality of Life in After Esophagectomy Unknown status NCT00790140 Phase 4
28 A Comparison of Body Weight Changing and Side Effects Between Treatment With 30 mcg Ethinylestradiol/2 mg Chlormadinone Acetate (Belara®) and 30 mcg Ethinylestradiol/3 mg Drospirenone (Yasmin®): A Randomized Control Trial Unknown status NCT01608698 Phase 4 30 mcg ethinylestradiol/2 mg chlormadinone acetate;30 mcg ethinylestradiol/3 mg drospirenone
29 A Randomized, Controlled Mutiple-center Clinical Research on the Treatment With Yangzhengxiaoji Capsule Combination Chemotherapy for III/IV Diffuse Large B Cell Lymphoma Unknown status NCT01949818 Phase 4 Yangzhengxiaoji capsule combined with CHOP regimen;CHOP regimen
30 Erythrocyte-Mediated Drug Delivery for the Prevention of Restenosis After Coronary Artery Stent Implantation:TROY-Study Unknown status NCT00484965 Phase 4
31 Sequential Icotinib Plus Chemotherapy Versus Icotinib Alone as First-line Treatment in Stage IIIB/IV Lung Adenocarcinoma: a Randomized, Open-label, Multicenter Study Unknown status NCT02103257 Phase 4 Sequential Icotinib Plus Chemotherapy;Icotinib
32 A Study of Endostar in Combination With Chemotherapy Followed by Endostar Maintenance Therapy in Patients With Stage IIIB/IV Non-small Cell Lung Cancer (NSCLC) Unknown status NCT01028729 Phase 4 Endostar;Gemcitabine-Cisplatin chemotherapy
33 Phase IV Study of the Use of Two Preparations of Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation of Hyper-androgenic Origin Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
34 Effect of Magnesium Alginate on Gastroesophageal Reflux in Infants. Unknown status NCT02806453 Phase 4
35 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
36 A Comparison of Cefditoren Pivoxil 10 mg/kg/Day and Cefditoren Pivoxil 20 mg/kg/Day in Treatment of Childhood With Acute Rhinosinusitis Unknown status NCT01553006 Phase 4 cefditoren pivoxil
37 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Prostate Cancer Unknown status NCT01352598 Phase 4
38 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
39 Comparing the Effect of 0,06 % -, 0,12 % and 0,2 % Chlorhexidine on Plaque, Bleeding and Side Effects in an Experimental Gingivitis Model. A Parallel, Double Masked, Randomized, Placebo-controlled Clinical Trial Unknown status NCT02911766 Phase 4 Chlorhexidine 0.2% Mouthrinse;Chlorhexidine 0.12% mouthrinse;Chlorhexidine 0.06% mouthrinse
40 A Randomized Controlled Multi-center Clinical Trial on Treatment of Stage Ⅲ/Ⅳ NK/T Cell Lymphoma With DDGP Regiment (Gemcitabine,Pegaspargase,Cisplatin,Dexamethasone) Unknown status NCT01501149 Phase 4 DDGP(cisplatin,dexamethasone,gemcitabine,pegaspargase);Modified SMILE (MTX,DEX,IFO,L-ASP,Etoposide,Mesna)
41 Minimization of Bleeding Complications Through Utilization of Perioperative Tranexamic Acid in Breast Surgery: A Randomized Double-blinded Placebo-controlled Trial Unknown status NCT02615366 Phase 4 Tranexamic Acid;Placebo
42 A Randomized, Double-blind, Placebo Controlled, Crossover Study to Evaluate the Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
43 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
44 Randomized Controlled Trial Testing the Effect of Milk Formula Supplemented With L. Reuteri on Crying Time in Colicky Infants Less Than 3 Months Old Unknown status NCT02430831 Phase 4
45 Onset of Action of Advair HFA 115/21 in Comparison to Symbicort pMDI 160/4.5 Measured by Impulse Oscillometry, IOS. Unknown status NCT00867737 Phase 4 Advair HFA MDI 115/21;Symbicort 160/4.5 pMDI
46 Continuous Versus Cyclic Postoperative Use of Low-Dose Combined Oral Contraceptive Belara® for the Treatment of Endometriosis-Related Chronic Pelvic Pain: a Randomized Controlled Trial. Unknown status NCT00844012 Phase 4 Continuous OC (clormadinone acetate plus ethinil-estradiol - Belara®, Grunenthal, Milan, Italy);Cyclic OC (clormadinone acetate plus ethinil-estradiol)
47 Different Doses of Anti-thymocyte Globin With 2.5 or 3.75mg/kg to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
48 Effectiveness and Tolerability of Early Initiation of Combined Lipid -Lowering Therapy Included Simvastatin and Fenofibrate vs Simvastatin Alone in Patients With Type 2 Diabetes Mellitus, Hypertriglyceridemia and Acute Coronary Syndrome Unknown status NCT02015988 Phase 4 Fenofibrate;Simvastatin
49 A Double-Blind, Randomized, Parallel Group, Placebo-controlled Study to Compare the Efficacy and Safety of Activation Energy Serum (AES) Versus Placebo on Patients With Mild to Moderate Persistent Asthma. Unknown status NCT01939951 Phase 4
50 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4 Norethindrone acetate pretreatment

Search NIH Clinical Center for Down Syndrome

Cochrane evidence based reviews: down syndrome

Genetic Tests for Down Syndrome

Genetic tests related to Down Syndrome:

# Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome 29 GATA1

Anatomical Context for Down Syndrome

MalaCards organs/tissues related to Down Syndrome:

41
Lung, Breast, Testes, Brain, Prostate, B Cells, Heart

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 17780)
# Title Authors PMID Year
1
A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome. 9 38 8
18854864 2009
2
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. 9 38 8
18805579 2008
3
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. 9 38 8
16554754 2006
4
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. 9 38 71
12923861 2003
5
Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. 9 38 8
12560215 2003
6
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 9 38 8
12586620 2003
7
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. 9 38 8
12172547 2002
8
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. 9 38 71
10930360 2000
9
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. 9 38 71
10500018 1999
10
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. 9 38 8
8595418 1995
11
Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. 38 8
25217160 2014
12
Domains of genome-wide gene expression dysregulation in Down's syndrome. 38 8
24740065 2014
13
Translating dosage compensation to trisomy 21. 38 8
23863942 2013
14
Survival among people with Down syndrome: a nationwide population-based study in Denmark. 38 8
22878506 2013
15
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 38 8
23040494 2012
16
Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory. 38 8
22511596 2012
17
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. 38 71
22275335 2012
18
Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors. 38 71
21618060 2011
19
Health supervision for children with Down syndrome. 38 71
21788214 2011
20
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. 38 8
20442137 2010
21
Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. 38 8
20512340 2010
22
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. 38 8
20101688 2010
23
Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21. 38 8
19892844 2010
24
Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery. 38 8
19921741 2009
25
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. 38 8
19783846 2009
26
Screening for fetal aneuploidy and neural tube defects. 38 71
19915395 2009
27
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. 38 8
19002211 2009
28
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. 38 8
18771760 2008
29
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. 9 8
18591654 2008
30
Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. 38 8
18172498 2008
31
First trimester diagnosis and screening for fetal aneuploidy. 38 71
18197059 2008
32
ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. 38 71
18055749 2007
33
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. 38 8
17668376 2007
34
Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. 38 8
17163522 2007
35
ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. 38 71
17197615 2007
36
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. 38 8
17036335 2006
37
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. 38 8
16922718 2006
38
Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. 38 8
16432181 2006
39
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. 38 8
16179473 2005
40
The real earliest historical evidence of Down syndrome. 38 8
15578572 2005
41
Increased risk of symptomatic gallbladder disease in adults with Down syndrome. 38 8
15386474 2004
42
A chromosome 21 critical region does not cause specific Down syndrome phenotypes. 38 8
15499018 2004
43
Further early historical evidence of Down syndrome. 38 8
15057991 2004
44
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. 38 8
12913072 2003
45
Lower neonatal screening thyroxine concentrations in down syndrome newborns. 38 8
12679431 2003
46
An angel with Down syndrome in a sixteenth century Flemish Nativity painting. 38 8
12522800 2003
47
Mutation of the AML1/RUNX1 gene in a transient myeloproliferative disorder patient with Down syndrome. 38 8
12200707 2002
48
Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study. 9 8
11830198 2002
49
Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. 38 8
11483813 2001
50
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome. 38 8
11371509 2001

Variations for Down Syndrome

ClinVar genetic disease variations for Down Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MTRR NM_002454.3(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 5:7870973-7870973 5:7870860-7870860
2 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 X:48649610-48649610 X:48791203-48791203

Copy number variations for Down Syndrome from CNVD:

7 (show all 17)
# 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

Pathways related to Down Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 MIRLET7C MIR99A MIR155 MIR125B2

GO Terms for Down Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 S100B MIRLET7C MIR99A MIR155 MIR125B2 DSCAML1

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.33 S100B RCAN1 DSCAML1
2 gene silencing by miRNA GO:0035195 9.02 MIRLET7C MIR99A MIR802 MIR155 MIR125B2
3 dendrite self-avoidance GO:0070593 8.96 DSCAML1 DSCAM

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion mediator activity GO:0098632 8.96 DSCAML1 DSCAM
2 tau protein binding GO:0048156 8.62 S100B DYRK1A

Sources for Down Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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