MCID: DWN001
MIFTS: 70

Down Syndrome

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

Aliases & Classifications for Down Syndrome

MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 53 12 72 49 24 55 36 51 40 3 41 14 37 69
Trisomy 21 53 49 24 55 3 69
Down's Syndrome 12 49 24
Complete Trisomy 21 Syndrome 12 28
Down's Syndrome - Trisomy 21 12
Trisomy 21 Syndrome 12
Downs Syndrome 12
G Trisomy 12
47,xx,+21 24
47,xy,+21 24
Trisomy G 24

Characteristics:

OMIM:

53
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:



Summaries for Down Syndrome

NIH Rare Diseases : 49 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.  Last updated: 1/25/2018

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to orofaciodigital syndrome viii and triploidy, and has symptoms including joint laxity, short neck and obesity. An important gene associated with Down Syndrome is DCR (Down Syndrome Chromosome Region). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart.

OMIM : 53 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 : 40 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. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.

Genetics Home Reference : 24 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.

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.

Wikipedia : 72 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 383)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 29.8 AFP PAPPA
2 triploidy 29.5 AFP PAPPA
3 acute megakaryoblastic leukemia in down syndrome 12.0
4 myeloid proliferations related to down syndrome 11.9
5 acute megakaryoblastic leukemia without down syndrome 11.9
6 myeloproliferative syndrome, transient 11.7
7 ayme-gripp syndrome 11.4
8 megakaryocytic leukemia 11.0
9 atrioventricular septal defect 11.0
10 coloboma of macula 10.9
11 syringoma 10.9
12 macroglossia 10.9
13 hypotonia 10.9
14 atrioventricular septal defect 4 10.6
15 atrioventricular septal defect 5 10.6
16 cystic lymphangioma 10.6
17 floppy infant syndrome 10.6
18 infantile hypotonia 10.6
19 leukemia 10.4
20 alzheimer disease 10.3
21 aging 10.2
22 dementia 10.1
23 myeloid leukemia 10.1
24 alpha-fetoprotein deficiency 10.0
25 neuronitis 10.0
26 williams-beuren syndrome 10.0
27 autism 10.0
28 chromosomal disease 10.0 AFP DSCAM DYRK1A GATA1 PAPPA RCAN1
29 heart disease 10.0
30 fragile x syndrome 10.0
31 cerebritis 10.0
32 thyroiditis 10.0
33 hypothyroidism 9.9
34 lymphoblastic leukemia 9.9
35 alacrima, achalasia, and mental retardation syndrome 9.9
36 leukemia, acute myeloid 9.9
37 duodenitis 9.9
38 neural tube defects 9.8
39 body mass index quantitative trait locus 11 9.8
40 body mass index quantitative trait locus 9 9.8
41 body mass index quantitative trait locus 8 9.8
42 body mass index quantitative trait locus 7 9.8
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
44 body mass index quantitative trait locus 12 9.8
45 body mass index quantitative trait locus 14 9.8
46 body mass index quantitative trait locus 18 9.8
47 apnea, obstructive sleep 9.8
48 body mass index quantitative trait locus 4 9.8
49 body mass index quantitative trait locus 10 9.8
50 sleep apnea 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
joint laxity

Growth Height:
short stature

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

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

Abdomen Gastroin testinal:
imperforate anus
hirschsprung disease
duodenal stenosis/atresia

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

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

Skeletal Pelvis:
hypoplastic iliac wings
shallow acetabulum

Hematology:
leukemoid reactions

Endocrine Features:
hypothyroidism

Head And Neck Head:
brachycephaly

Head And Neck Mouth:
protruding tongue

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

Cardiovascular Heart:
congenital heart defect
atrioventricular canal

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

Head And Neck Face:
flat facial profile

Skeletal Spine:
atlantoaxial instability


Clinical features from OMIM:

190685

Human phenotypes related to Down Syndrome:

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint laxity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001388
2 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
4 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 gait disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0001288
8 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
9 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
10 narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0000189
11 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
13 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
14 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
15 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
16 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
17 thick lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000179
18 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
20 microdontia 55 31 frequent (33%) Frequent (79-30%) HP:0000691
21 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
22 thickened nuchal skin fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0000474
23 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
24 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
25 abnormality of immune system physiology 55 31 frequent (33%) Frequent (79-30%) HP:0010978
26 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
27 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
28 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
29 abnormality of the lymphatic system 55 31 frequent (33%) Frequent (79-30%) HP:0100763
30 prematurely aged appearance 55 31 frequent (33%) Frequent (79-30%) HP:0007495
31 decreased fertility 55 31 frequent (33%) Frequent (79-30%) HP:0000144
32 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
33 open mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000194
34 abnormality of the fontanelles or cranial sutures 55 31 frequent (33%) Frequent (79-30%) HP:0000235
35 conductive hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000405
36 upslanted palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000582
37 hypotrichosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001006
38 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
39 sandal gap 55 31 frequent (33%) Frequent (79-30%) HP:0001852
40 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
41 downturned corners of mouth 55 31 frequent (33%) Frequent (79-30%) HP:0002714
42 acute megakaryocytic leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0006733
43 impaired pain sensation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007328
44 bilateral single transverse palmar creases 55 31 frequent (33%) Frequent (79-30%) HP:0007598
45 protruding tongue 55 31 frequent (33%) Frequent (79-30%) HP:0010808
46 round ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0100830
47 malar flattening 31 HP:0000272
48 abnormality of the dentition 55 Frequent (79-30%)
49 microtia 31 HP:0008551
50 short stature 31 HP:0004322

Drugs & Therapeutics for Down Syndrome

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
3 Antiparkinson Agents Phase 4,Phase 2
4 Dopamine Agents Phase 4,Phase 2
5 Excitatory Amino Acid Antagonists Phase 4,Phase 2
6 Excitatory Amino Acids Phase 4,Phase 2
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
8
Ethanol Approved Phase 2, Phase 3 64-17-5 702
9
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2
10
Asparaginase Approved, Investigational Phase 3,Phase 2 9015-68-3
11
Cytarabine Approved, Investigational Phase 3,Phase 2 147-94-4 6253
12
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
13
Etoposide Approved Phase 3 33419-42-0 36462
14
Thioguanine Approved Phase 3 154-42-7 2723601
15
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 657311 5754
16
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
17
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
18
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
19
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
20
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
21
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
22
Pegaspargase Approved, Investigational Phase 3 130167-69-0
23
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
24
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
25
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
26
Busulfan Approved, Investigational Phase 3 55-98-1 2478
27
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
28
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
29
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 3 24280-93-1 446541
31
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
32
Vidarabine Approved, Investigational Phase 3 24356-66-9 21704 32326
33
Donepezil Approved Phase 3,Phase 2 120014-06-4 3152
34
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
35
Cortisone acetate Approved, Investigational Phase 3 1950-04-4, 50-04-4 5745
36
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
37 Tocopherol Approved, Investigational, Nutraceutical Phase 3,Phase 2
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
39
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
40
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
41
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
42
Butyric Acid Experimental, Investigational Phase 3,Phase 2 107-92-6 264
43
Doxil Approved June 1999 Phase 3 31703
44 Antioxidants Phase 3,Phase 2
45 Micronutrients Phase 3,Phase 2
46 Protective Agents Phase 3,Phase 2,Phase 1
47 Tocopherols Phase 3,Phase 2
48 Tocotrienols Phase 3,Phase 2
49 Trace Elements Phase 3,Phase 2
50 Vitamins Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 189)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
2 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
3 Epigallocatechin Gallate (EGCG) to Improve Cognitive Performance in Foetal Alcohol Syndrome (FAS) Children Unknown status NCT02558933 Phase 2, Phase 3
4 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
5 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3 folinic acid
6 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
7 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
8 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
9 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
10 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 cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;doxorubicin hydrochloride;leucovorin calcium;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine sulfate
11 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 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
12 Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome Recruiting NCT02521493 Phase 3 Asparaginase;Asparaginase Erwinia chrysanthemi;Cytarabine;Daunorubicin Hydrochloride;Etoposide;Mitoxantrone Hydrochloride;Thioguanine
13 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
14 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3 Clofarabine;Cyclophosphamide;Cytarabine;Dasatinib;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Thioguanine;Vincristine Sulfate
15 Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children Active, not recruiting NCT01576705 Phase 3 thyroid hormone and folinic acid
16 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Active, not recruiting NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
17 Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17 Terminated NCT00754052 Phase 3 Aricept (donepezil hydrochloride);Aricept (donepezil hydrochloride);Placebo
18 Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10 Terminated NCT00754013 Phase 3 Aricept (Donepezil hydrochloride);Placebo
19 Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy Terminated NCT01332643 Phase 3
20 Low-Dose Cytarabine in Treating Infants With Down Syndrome and Transient Myeloproliferative Disorder Withdrawn NCT00411281 Phase 3 cytarabine
21 Oral Language in Children With Down Syndrome Unknown status NCT00952354 Phase 2
22 Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
23 A Double-blind, Placebo-controlled Comparative Study and Open-label Extension Study to Confirm the Efficacy and Safety of E2020 in Subjects With Down Syndrome Having Regression Symptoms and Disabled Activities of Daily Living. Completed NCT02094053 Phase 2 E2020-Donepezil hydrochloride;E2020-Donepezil hydrochloride;Placebo
24 Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In Treating Cognitive Dysfunction Exhibited By Children With Down Syndrome Completed NCT00570128 Phase 2 Donepezil hydrochloride;Placebo
25 Rivastigmine Study in Adolescents With Down Syndrome Completed NCT01084135 Phase 1, Phase 2 Rivastigmine
26 A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS) Completed NCT02024789 Phase 2 Placebo;RG1662;RG1662
27 Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid. Completed NCT00928304 Phase 2 Florbetaben (BAY94-9172)
28 A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia Completed NCT01791725 Phase 2 ELND005;Placebo
29 Egcg, a dyrk1a Inhibitor as Therapeutic Tool for Reversing Cognitive Deficits in Down Syndrome Individuals. Completed NCT01394796 Phase 2 Placebo
30 Liq-NOL Efficacy in Pediatric Patients With Down Syndrome Completed NCT00891917 Phase 2 Ubiquinol-10 Syrup
31 Normalization of dyrk1A and APP Function as an Approach to Improve Cognitive Performance and Decelerate AD Progression in DS Subjects: Epigallocatechin Gallate as Therapeutic Tool Completed NCT01699711 Phase 2
32 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
33 Down Syndrome Memantine Follow-up Study Recruiting NCT02304302 Phase 2 Memantine;Placebo
34 Nicotine Treatment of Cognitive Decline in Down Syndrome Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
35 The Effects of Inhalational Anaesthetics in Cognitive Functions in Down Syndrome Patients Recruiting NCT02971254 Phase 2 Sevoflurane;Desflurane
36 TDF and LdT in Patients With HBV Infection Awaiting Assisted Reproduction Active, not recruiting NCT02338674 Phase 1, Phase 2 Telbivudine and Tenofovir
37 ASIA Down Syndrome Acute Lymphoblastic Leukemia 2016 Not yet recruiting NCT03286634 Phase 2 Daunorubicin;Prednisolone;Vincristine;Epirubicin;E-coli L-asparaginase;6-Mercaptopurine;Methotrexate;Hydrocortisone;Cytarabine;Cyclophosphamide
38 Evaluating The Safety Of Donepezil Hydrochloride (Aricept) For Up To 1 Year In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome - Follow-Up To A 10-Week, Double-Blind, Placebo-Controlled Trial Terminated NCT00675025 Phase 2 Donepezil Hydrochloride (Aricept)
39 A Study of RO5186582 in Down Syndrome Among Children 6 to 11 Years of Age Terminated NCT02484703 Phase 2 Placebo;RO5186582
40 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
41 A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662 Completed NCT01667367 Phase 1 RG1662;placebo
42 A Study of RG1662 in Individuals With Down Syndrome Completed NCT01436955 Phase 1 Placebo;RG1662
43 An Interactive Informed Consent and Education Program for Pregnant Women Completed NCT01176019 Phase 1
44 Rehabilitation of Children With Multiple Disabilities Completed NCT01379443 Phase 1
45 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
46 Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome Recruiting NCT02738450 Phase 1
47 Investigation of the Safety of Intranasal Glulisine in Down Syndrome Recruiting NCT02432716 Phase 1 Insulin glulisine;Saline
48 Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Adults With Down Syndrome Active, not recruiting NCT02481765 Phase 1
49 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
50 Neuromuscular Characteristics of Individuals With Down Syndrome (DS) Unknown status NCT00643955

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 28 GATA1

Anatomical Context for Down Syndrome

MalaCards organs/tissues related to Down Syndrome:

38
Brain, Testes, Heart, Myeloid, Thyroid, Eye, Bone

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 1801)
# Title Authors Year
1
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. ( 29054759 )
2018
2
Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study. ( 29431619 )
2018
3
Lingual tonsillectomy in children with Down syndrome: Is it safe? ( 29447819 )
2018
4
Research matters: How a brother with Down syndrome inspired a PhD in tuberculosis and an ardor for science communication. ( 29420663 )
2018
5
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis. ( 29449075 )
2018
6
Down syndrome and microRNAs. ( 29403643 )
2018
7
Challenges and outcomes of cholesteatoma management in children with Down syndrome. ( 29447898 )
2018
8
Cerebral vasoreactivity and intima-media thickness in Down syndrome: A case-control study. ( 29406914 )
2018
9
Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report. ( 29105081 )
2018
10
Personalized reading intervention for children with Down syndrome. ( 29429497 )
2018
11
Down syndrome with posterior cortical atrophy. ( 29437810 )
2018
12
Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome. ( 29413426 )
2018
13
DYRK1A inhibition and cognitive rescue in a Down syndrome mouse model are induced by new fluoro-DANDY derivatives. ( 29434250 )
2018
14
Self-perceptions from people with Down syndrome in Japan. ( 29449634 )
2018
15
Early and Selective Activation and Subsequent Alterations to the Unfolded Protein Response in Down Syndrome Mouse Models. ( 29439332 )
2018
16
Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism. ( 29445163 )
2018
17
Prevalence of celiac disease in patients with Down syndrome: a meta-analysis. ( 29435186 )
2018
18
External Auditory Canal Dimensions, Age, and Cerumen Retention or Impaction in Persons With Down Syndrome. ( 29426243 )
2018
19
Is it time to move towards non-invasive prenatal screening for Down syndrome and screening for pre-eclampsia? ( 29446241 )
2018
20
Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome. ( 29399949 )
2018
21
Quality of life in Down syndrome: a matter of perspective. ( 29443380 )
2018
22
Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature. ( 28903458 )
2017
23
Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature. ( 28507273 )
2017
24
Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. ( 28461505 )
2017
25
Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first. ( 28453864 )
2017
26
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ( 28463681 )
2017
27
A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome. ( 28912835 )
2017
28
Second-Trimester Ultrasound for Adjusting Patient's Risk for Down Syndrome. ( 28457116 )
2017
29
Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline. ( 28482213 )
2017
30
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
31
Mutational spectrum of CENP-B box and I+-satellite DNA on chromosome 21 in Down syndrome children. ( 28259924 )
2017
32
Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder. ( 29126394 )
2017
33
Vocalization patterns in young children with Down syndrome: Utilizing the language environment analysis (LENA) to inform behavioral phenotypes. ( 28485651 )
2017
34
Inhibition of Drp1-mediated mitochondrial fission improves mitochondrial dynamics and bioenergetics stimulating neurogenesis in hippocampal progenitor cells from a Down syndrome mouse model. ( 28939434 )
2017
35
Aiding risk information learning through simulated experience (ARISE): Using simulated outcomes to improve understanding of conditional probabilities in prenatal Down syndrome screening. ( 28526191 )
2017
36
Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome. ( 28092296 )
2017
37
Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study. ( 28829905 )
2017
38
Prenatal Phenotype of Down Syndrome Using Three-Dimensional Virtual Reality. ( 28483332 )
2017
39
Application of the amniotic fluid metabolome to the study of fetal malformations, using Down syndrome as a specific model. ( 28944830 )
2017
40
Dietary practices of children and adolescents with Down syndrome. ( 28078918 )
2017
41
Hidradenitis Suppurativa and Concomitant Down Syndrome: Literature Review of Other Associated Mucocutaneous Manifestations in Adults. ( 28859733 )
2017
42
Down syndrome and transposition of the great arteries. ( 28857728 )
2017
43
Papular eruption in a woman with Down syndrome. ( 28917482 )
2017
44
Down syndrome maternal serum markers in oocyte donation and other assisted reproductive technologies. ( 28921586 )
2017
45
Foot Structure in Boys with Down Syndrome. ( 28904967 )
2017
46
Brentuximab-vedotin maintenance following chemotherapy without irradiation for primary intracranial embryonal carcinoma in down syndrome. ( 29236132 )
2017
47
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
48
Targeting trisomic treatments: optimizing Dyrk1a inhibition to improve Down syndrome deficits. ( 28944229 )
2017
49
The physiological phosphorylation of tau is critically changed in fetal brains of individuals with Down syndrome. ( 28455903 )
2017
50
Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. ( 29217785 )
2017

Variations for Down Syndrome

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

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 cellular_component GO:0005575 9.02 DSCR10 DSCR4 DSCR8 DSCR9 RCAN2

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

# Name GO ID Score Top Affiliating Genes
1 biological_process GO:0008150 9.77 DSCR10 DSCR3 DSCR4 DSCR8 DSCR9
2 central nervous system development GO:0007417 9.5 DSCAML1 RCAN1 S100B
3 regulation of catalytic activity GO:0050790 9.43 RCAN1 RCAN2 RCAN3
4 calcium-mediated signaling GO:0019722 9.33 RCAN1 RCAN2 RCAN3
5 regulation of phosphoprotein phosphatase activity GO:0043666 9.13 RCAN1 RCAN2 RCAN3
6 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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