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 73 20 43 58 36 13 54 42 3 44 15 37 17 70 32
Trisomy 21 57 20 43 58 3 15 70
Complete Trisomy 21 Syndrome 12 29 6 39
Down's Syndrome 12 20 43
Down Syndrome, Susceptibility to 6
Down's Syndrome - Trisomy 21 12
Trisomy 21 Syndrome 12
Downs Syndrome 12
G Trisomy 12
47,xx,+21 43
47,xy,+21 43
Trisomy G 43

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
down syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Down Syndrome

MedlinePlus Genetics : 43 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 often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. 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 can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. 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 commonly develop this condition earlier, in their fifties or sixties.

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to childhood acute megakaryoblastic leukemia and chromosomal disease. 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 Teniposide and Magnesium oxide have been mentioned in the context of this disorder. Affiliated tissues include prostate, brain and myeloid, and related phenotypes are intellectual disability and short neck

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.

GARD : 20 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) (Updated 05-Apr-2021)

MedlinePlus : 42 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 : 36 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 : 73 Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence... 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 1439)
# Related Disease Score Top Affiliating Genes
1 childhood acute megakaryoblastic leukemia 31.6 MIR99A MIR125B2
2 chromosomal disease 30.4 RCAN1 MIR155 GATA1 DYRK1A DSCAM
3 myeloproliferative syndrome, transient 11.4
4 myeloid leukemia associated with down syndrome 11.4
5 ayme-gripp syndrome 11.3
6 acute megakaryoblastic leukemia in down syndrome 11.2
7 chromosomal triplication 11.2
8 acute megakaryoblastic leukemia without down syndrome 11.2
9 atrioventricular septal defect 11.1
10 nuchal bleb, familial 11.1
11 acute megakaryocytic leukemia 11.0
12 myeloid proliferations related to down syndrome 11.0
13 leukemia, acute lymphoblastic 11.0
14 hypotonia 11.0
15 alacrima, achalasia, and mental retardation syndrome 11.0
16 macroglossia 10.9
17 syringoma 10.9
18 cystic lymphangioma 10.9
19 orofaciodigital syndrome viii 10.9
20 coloboma of macula 10.9
21 alzheimer disease 10.9
22 ring chromosome 21 10.9
23 alpha-fetoprotein deficiency 10.8
24 atrioventricular septal defect 4 10.8
25 atrioventricular septal defect 5 10.8
26 congenital extrahepatic portosystemic shunt 10.8
27 floppy infant syndrome 10.8
28 infantile hypotonia 10.8
29 leukemia 10.7
30 hypothyroidism 10.7
31 sleep apnea 10.7
32 autism 10.7
33 heart septal defect 10.7
34 dementia 10.7
35 myeloid leukemia 10.7
36 myeloproliferative neoplasm 10.7
37 leukemia, acute myeloid 10.7
38 nondisjunction 10.6
39 autism spectrum disorder 10.6
40 ventricular septal defect 10.6
41 acute leukemia 10.6
42 pulmonary hypertension 10.6
43 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.5
44 neural tube defects 10.5
45 fragile x syndrome 10.5
46 celiac disease 1 10.5
47 williams-beuren syndrome 10.5
48 strabismus 10.5
49 mechanical strabismus 10.5
50 aging 10.5

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:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
7 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
8 joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001388
9 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
10 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
11 round ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0100830
12 hypotonia 31 hallmark (90%) HP:0001252
13 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
14 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
15 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
16 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
17 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
18 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
19 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
20 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
21 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
22 prematurely aged appearance 58 31 frequent (33%) Frequent (79-30%) HP:0007495
23 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
24 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
25 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
26 abnormality of the fontanelles or cranial sutures 58 31 frequent (33%) Frequent (79-30%) HP:0000235
27 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
28 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
29 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
30 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
31 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
32 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
33 abnormality of the lymphatic system 58 31 frequent (33%) Frequent (79-30%) HP:0100763
34 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
35 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
36 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
37 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
38 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
39 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
40 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
41 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
42 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
43 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
44 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
45 acute megakaryocytic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006733
46 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
47 sparse hair 31 occasional (7.5%) HP:0008070
48 muscular hypotonia 58 Very frequent (99-80%)
49 abnormality of the dentition 58 Frequent (79-30%)
50 microtia 31 HP:0008551

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Cardiovascular Heart:
congenital heart defect
atrioventricular canal

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

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

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

Skeletal Pelvis:
hypoplastic iliac wings
shallow acetabulum

Clinical features from OMIM®:

190685 (Updated 05-Apr-2021)

Drugs & Therapeutics for Down Syndrome

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

(show top 50) (show all 1354)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teniposide Approved Phase 4 29767-20-2 34698
2
Magnesium oxide Approved Phase 4 1309-48-4 14792
3
Magnesium citrate Approved Phase 4 3344-18-1
4
Amantadine Approved Phase 4 768-94-5 2130
5
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
8
Daunorubicin Approved Phase 4 20830-81-3 30323
9
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
10
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
11
Tocopherol Approved, Investigational Phase 4 1406-66-2
12
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
13
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
14
Valganciclovir Approved, Investigational Phase 4 175865-60-8 64147
15
Montelukast Approved Phase 4 158966-92-8 5281040
16
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
17
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
18
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
19
Racepinephrine Approved Phase 4 329-65-7 838
20
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
21
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
22
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
23
Cosyntropin Approved Phase 4 16960-16-0 16129617
24
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
25
Bromfenac Approved Phase 4 91714-94-2 60726
26
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
27
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
28
Ziprasidone Approved Phase 4 146939-27-7 60854
29
Abatacept Approved Phase 4 332348-12-6 10237
30
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
31
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
32
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
33
Methadone Approved Phase 4 76-99-3 4095
34
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
35
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
36
Copper Approved, Investigational Phase 4 7440-50-8 27099
37
Piperazine Approved, Vet_approved Phase 4 110-85-0 4837
38
Mebendazole Approved, Vet_approved Phase 4 31431-39-7 4030
39
Dienogest Approved Phase 4 65928-58-7
40
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
41
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
42
Drospirenone Approved Phase 4 67392-87-4 68873
43
Norelgestromin Approved, Investigational Phase 4 53016-31-2 13752005
44
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
45
Liraglutide Approved Phase 4 204656-20-2 44147092
46
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
47
Petrolatum Approved, Investigational Phase 4 8009-03-8
48
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
49
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
50
Paromomycin Approved, Investigational Phase 4 1263-89-4, 7542-37-2 165580

Interventional clinical trials:

(show top 50) (show all 6143)
# Name Status NCT ID Phase Drugs
1 Enhancement of Learning Associated Neural Plasticity by Selective Serotonin Reuptake Inhibitors Unknown status NCT02753738 Phase 4 Escitalopram;Placebo
2 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
3 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
4 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
5 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
6 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
7 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
8 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
9 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
10 Treatment of Elderly Patients With Diffuse Large B-cell Lymphoma Unknown status NCT03513601 Phase 4 (R)-CHOP regimen;(R)-CVP regimen
11 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
12 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)
13 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
14 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
15 A Study to Evaluate the Efficacy and Safety of Anlotinib Plus Pemetrexed as the 1-line Treatment of Patients With Platinum Intolerant Advanced Non-squamous NSCLC, With Pemetrexed Control. Unknown status NCT03768037 Phase 4 Anlotinib plus Pemetrexed;Pemetrexed
16 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
17 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
18 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
19 Role of Sildenafil Citrate in Patients With Unexplained Recurrent Miscarriages: a Randomized Clinical Trial Unknown status NCT01419392 Phase 4 Sildenafil citrate;matching placebo
20 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
21 The Prospective Study of FVD Program and HD-MTX-Ara-C Program Contrast in the Treatment of PCNSL Lymphoma. Unknown status NCT01960192 Phase 4 HD-MTX-Ara-C regimen;FVD regimen
22 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
23 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
24 Endometrial Preparation Before Operative Hysteroscopy in Premenopausal Women Unknown status NCT02440750 Phase 4 Dienogest;Ulipristal acetate
25 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
26 Advantages of Ulipristal Acetate for the Preoperative Treatment of Hypoechoic Cellular Leiomyomas Unknown status NCT02361905 Phase 4 ulipristal acetate;Leuprolide acetate
27 Continuous Versus Cyclic Use of Oral Contraceptives Following Surgery for Symptomatic Endometriosis Unknown status NCT02237131 Phase 4 Oral contraceptives cyclic;Oral contraceptives continuous
28 The Effect of Diane-35 Pretreatment on Endocrine and Clinical Profile for Patients With Polycystic Ovary Syndrome Undergoing In-vitro Fertilization Unknown status NCT01752270 Phase 4 Diane-35 pretreatment;Diane-35 pretreatment
29 Ulipristal Acetate Versus GnRH Analogue Treatment Before Hysteroscopic Resection of Uterine Leiomyoma Unknown status NCT02361879 Phase 4 ulipristal acetate;Leuprolide acetate
30 Phase IV, Prospective, Randomized Study Comparing Preparation the Day Before and Split-dose Regimen With Sodium Picosulphate/Magnesium Citrate for Morning Colonoscopies Unknown status NCT01481714 Phase 4 Sodium picosulphate, magnesium oxid and citric acid;Sodium picosulphate/magnesium oxide and citric acid
31 Trans-vaginal Aspiration With or Without Injection of Surgicel for Treatment of Small Ovarian Endometrioma Before ICSI Cycles. A Randomized Controlled Trial Unknown status NCT03784404 Phase 4 Intracytoplasmic sperm injection
32 An Open, Single-arm, Multi-center Study of Anlotinib in Advanced Non-squamous NSCLC Patients in the Elderly Without Systemic Chemotherapy Unknown status NCT03778853 Phase 4 Anlotinib Hydrochloride
33 Endostar Treatment of Advanced Non-small Cell Lung Cancer Multi-center Clinical Research Unknown status NCT02513355 Phase 4 Changchun marina;cisplatin;Taxol;parapl
34 Ulipristal Acetate Versus GnRH Analogue for Myometrial Preservation in Patients With Submucosal Uterine Leiomyoma G2 Unknown status NCT02357563 Phase 4 ulipristal acetate;Leuprolide acetate
35 Effect of Amantadine Administration on Spatial Functioning Following Traumatic Brain Injury Unknown status NCT02321761 Phase 4 Amantadine hydrochloride
36 Recombinant Human Endostatin Durative Transfusion Combined With Pemetrexed Plus Cisplatin or Carboplatin in the First-line Treatment of Advanced Lung Adenocarcinoma With Wild-type EGFR or ALK-negative Unknown status NCT02804646 Phase 4 recombinant human endostatin;pemetrexed plus cisplatin or carboplatin
37 Personalized Medicine in HCV Chronic Infection. Endothelial Dysfunction and Subclinical Atheromatosis in Patients With HCV Infection. Characterization and Potential Reversibility With Direct Antiviral Agents. Unknown status NCT02802280 Phase 4
38 Personalized Medicine in HCV Infection: Cognitive Impairments and Brain Anomalies in Chronic Hepatitis C Infected Individuals. Characterization and Potential Reversibility With Direct Antiviral Agents. Unknown status NCT02745132 Phase 4
39 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
40 Comparative Study Between ICSI Results in Transvaginal Ultrasound Guided Embryo Transfer and Transabdominal Ultrasound Guided Embryo Transfer Unknown status NCT03683043 Phase 4 Long GnRH agonist protocol
41 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4 Norethindrone acetate pretreatment
42 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
43 Effect of Vaxoral® (OM-85) on Frequency of Respiratory Tract Infections and Size of Adenoid Tissue in Preschool Children With Adenoid Hypertrophy Unknown status NCT03243565 Phase 4
44 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
45 Comparison of Different Methodologies Assessing Airway Responsiveness and Investigation of Treatment Efficacy of Budesonide /Formoterol in Asthmatics Unknown status NCT02574975 Phase 4 methacholine;adenosine monophosphate;leukotriene D4;budesonide /formoterol
46 Risk of Tuberculosis and Infections in Spondyloarthritis Patients Treated With Tofacitinib in Bangladesh Unknown status NCT03504072 Phase 4 Tofacitinib 5 mg,;Etanercept
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 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
49 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
50 Safety and Immune Response to Adjuvanted A(H1N1)v Influenza Vaccine in HIV-1 Infected and Immunosuppressed Adults Unknown status NCT01017172 Phase 4

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:

40
Prostate, Brain, Myeloid, Heart, Bone, Liver, Breast

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 19267)
# 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. 54 57 61
18854864 2009
2
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. 57 54 61
18805579 2008
3
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. 54 57 61
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. 54 61 6
12923861 2003
5
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 61 54 57
12586620 2003
6
Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. 54 61 57
12560215 2003
7
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. 61 54 57
12172547 2002
8
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. 6 54 61
10930360 2000
9
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. 54 6 61
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. 61 57 54
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. 61 57
25217160 2014
12
Domains of genome-wide gene expression dysregulation in Down's syndrome. 61 57
24740065 2014
13
Translating dosage compensation to trisomy 21. 57 61
23863942 2013
14
Survival among people with Down syndrome: a nationwide population-based study in Denmark. 61 57
22878506 2013
15
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 57 61
23040494 2012
16
Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory. 61 57
22511596 2012
17
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. 61 57
20442137 2010
18
Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. 61 57
20512340 2010
19
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. 57 61
20101688 2010
20
Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21. 57 61
19892844 2010
21
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. 57 61
19783846 2009
22
Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery. 61 57
19921741 2009
23
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. 57 61
19002211 2009
24
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. 57 61
18771760 2008
25
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. 57 54
18591654 2008
26
Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. 57 61
18172498 2008
27
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. 61 57
17668376 2007
28
Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. 57 61
17163522 2007
29
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. 61 57
17036335 2006
30
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. 61 57
16922718 2006
31
Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. 61 57
16432181 2006
32
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. 61 57
16179473 2005
33
The real earliest historical evidence of Down syndrome. 57 61
15578572 2005
34
Increased risk of symptomatic gallbladder disease in adults with Down syndrome. 61 57
15386474 2004
35
A chromosome 21 critical region does not cause specific Down syndrome phenotypes. 57 61
15499018 2004
36
Further early historical evidence of Down syndrome. 61 57
15057991 2004
37
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. 57 61
12913072 2003
38
Lower neonatal screening thyroxine concentrations in down syndrome newborns. 61 57
12679431 2003
39
An angel with Down syndrome in a sixteenth century Flemish Nativity painting. 57 61
12522800 2003
40
Mutation of the AML1/RUNX1 gene in a transient myeloproliferative disorder patient with Down syndrome. 61 57
12200707 2002
41
Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study. 54 57
11830198 2002
42
Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. 57 61
11483813 2001
43
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome. 61 57
11371509 2001
44
Associated anomalies in individuals with polydactyly. 57 61
9880209 1998
45
Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein. 57 61
9784380 1998
46
Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. 61 57
9399594 1997
47
A novel gene isolated from human placenta located in Down syndrome critical region on chromosome 21. 61 57
9455479 1997
48
A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21. 61 57
8617511 1996
49
Down syndrome phenotypes: the consequences of chromosomal imbalance. 61 57
8197171 1994
50
Toward a molecular understanding of Down syndrome. 61 57
8115409 1993

Variations for Down Syndrome

ClinVar genetic disease variations for Down Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF212 , LOC105374344 NR_134676.1(LOC105374344):n.52T>C SNV risk factor 984916 rs62296477 GRCh37: 4:1107478-1107478
GRCh38: 4:1113690-1113690
2 MTRR NM_002454.3(MTRR):c.66A>G (p.Ile22Met) SNV risk factor 7029 rs1801394 GRCh37: 5:7870973-7870973
GRCh38: 5:7870860-7870860
3 GATA1 NM_002049.3(GATA1):c.94G>A (p.Val32Ile) SNV Uncertain significance 465135 rs782698349 GRCh37: X:48649610-48649610
GRCh38: X:48791203-48791203

Copy number variations for Down Syndrome from CNVD:

7 (show all 17)
# CNVD ID Chromosome 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 VPS26C 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 vesicle GO:1903561 8.8 MIRLET7C MIR99A MIR125B2

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

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.65 MIRLET7C MIR99A MIR802 MIR155 MIR125B2
2 dendritic cell differentiation GO:0097028 9.32 MIR155 GATA1
3 regulation of calcineurin-NFAT signaling cascade GO:0070884 9.16 RCAN3 RCAN1
4 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 9.13 MIRLET7C MIR99A MIR125B2
5 negative regulation of STAT cascade GO:1904893 8.8 MIRLET7C MIR99A MIR125B2

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.26 MIRLET7C MIR99A MIR155 MIR125B2
2 calcium-dependent protein serine/threonine phosphatase regulator activity GO:0008597 8.62 RCAN3 RCAN1

Sources for Down Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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