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MCID: DWN001
MIFTS: 69

Down Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Down Syndrome

About this section

MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 57 12 76 53 25 59 37 55 43 3 44 15 38 73
Trisomy 21 57 53 25 59 3 73
Complete Trisomy 21 Syndrome 12 29 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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Down Syndrome

About this section
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. 

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to acute megakaryoblastic leukemia in down syndrome and myeloid proliferations related to 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 Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are short neck and obesity

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.

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.

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

Sources

Related Diseases for Down Syndrome

About this section

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

(show top 50) (show all 373)
# Related Disease Score Top Affiliating Genes
1 acute megakaryoblastic leukemia in down syndrome 12.0
2 myeloid proliferations related to down syndrome 11.9
3 acute megakaryoblastic leukemia without down syndrome 11.9
4 myeloproliferative syndrome, transient 11.7
5 ayme-gripp syndrome 11.1
6 megakaryocytic leukemia 11.0
7 atrioventricular septal defect 11.0
8 syringoma 10.9
9 hypotonia 10.9
10 macroglossia 10.9
11 ring chromosome 21 10.9
12 coloboma of macula 10.6
13 atrioventricular septal defect 4 10.6
14 atrioventricular septal defect 5 10.6
15 cystic lymphangioma 10.6
16 floppy infant syndrome 10.6
17 infantile hypotonia 10.6
18 leukemia 10.4
19 alzheimer disease 10.4
20 aging 10.3
21 dementia 10.1
22 myeloid leukemia 10.1
23 autism 10.1
24 neuronitis 10.1
25 thyroiditis 10.0
26 williams-beuren syndrome 10.0
27 fragile x syndrome 10.0
28 cerebritis 10.0
29 hypothyroidism 10.0
30 chromosomal disease 10.0 DSCAM DYRK1A GATA1 RCAN1 SIM2
31 heart disease 10.0
32 leukemia, acute myeloid 9.9
33 leukemia, acute lymphoblastic 9.9
34 sleep apnea 9.9
35 lymphoblastic leukemia 9.9
36 apnea, obstructive sleep 9.9
37 alacrima, achalasia, and mental retardation syndrome 9.9
38 autism spectrum disorder 9.9
39 periodontitis 9.9
40 duodenitis 9.9
41 neural tube defects 9.9
42 epilepsy 9.9
43 celiac disease 1 9.8
44 nondisjunction 9.8
45 neural tube defects, folate-sensitive 9.8
46 hepatitis 9.8
47 hirschsprung disease 1 9.8
48 hemopericardium 9.8
49 pericardial effusion 9.8
50 calcinosis 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
Sources

Symptoms & Phenotypes for Down Syndrome

About this section

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

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

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

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

Skeletal Spine:
atlantoaxial instability


Clinical features from OMIM:

190685

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 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
7 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
8 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
9 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
12 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
13 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
14 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
15 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
16 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
17 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
18 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
19 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
20 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
21 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
22 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
23 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
24 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
25 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
26 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
27 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
28 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
29 prematurely aged appearance 59 32 frequent (33%) Frequent (79-30%) HP:0007495
30 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
31 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
32 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
33 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
34 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
35 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
36 hypotrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001006
37 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
38 joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001388
39 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
40 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
41 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
42 acute megakaryocytic leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006733
43 impaired pain sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007328
44 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
45 protruding tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010808
46 round ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0100830
47 malar flattening 32 HP:0000272
48 abnormality of the dentition 59 Frequent (79-30%)
49 microtia 32 HP:0008551
50 short stature 32 HP:0004322
Sources

Drugs & Therapeutics for Down Syndrome

About this section

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

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Not Applicable 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
3 Antiparkinson Agents Phase 4,Phase 2,Not Applicable
4 Dopamine Agents Phase 4,Phase 2,Not Applicable
5 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Not Applicable
6 Excitatory Amino Acids Phase 4,Phase 2,Not Applicable
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8
Ethanol Approved Phase 2, Phase 3 64-17-5 702
9
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
10
Cytarabine Approved, Investigational Phase 3,Phase 2 147-94-4 6253
11
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Not Applicable 68538-85-2
14
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
15
Pegaspargase Approved, Investigational Phase 3 130167-69-0
16
Thioguanine Approved Phase 3 154-42-7 2723601
17
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
18
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
19
Etoposide Approved Phase 3 33419-42-0 36462
20
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
21
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
22
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
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
Busulfan Approved, Investigational Phase 3 55-98-1 2478
26
Fludarabine Approved Phase 3,Not Applicable 21679-14-1, 75607-67-9 30751
27
Miconazole Approved, Investigational, Vet_approved Phase 3,Not Applicable 22916-47-8 4189
28
Mycophenolate mofetil Approved, Investigational Phase 3,Not Applicable 128794-94-5 5281078
29
Mycophenolic acid Approved Phase 3,Not Applicable 24280-93-1 446541
30
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
31
Vidarabine Approved, Investigational Phase 3,Not Applicable 24356-66-9 32326 21704
32
Donepezil Approved Phase 3,Phase 2 120014-06-4 3152
33
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
34
Cortisone acetate Approved, Investigational Phase 3 1950-04-4, 50-04-4 5745
35
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
36
Tocopherol Approved, Investigational, Nutraceutical Phase 3,Phase 2 1406-66-2 14986
37
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
39
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
40
Epigallocatechin gallate Investigational Phase 2, Phase 3,Not Applicable 989-51-5 65064
41
Doxil Approved June 1999 Phase 3 31703
42
Butyric Acid Experimental, Investigational Phase 3,Phase 2 107-92-6 264
43 Antioxidants Phase 3,Phase 2,Not Applicable
44 Micronutrients Phase 3,Phase 2,Not Applicable
45 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
46 Tocopherols Phase 3,Phase 2
47 Tocotrienols Phase 3,Phase 2
48 Trace Elements Phase 3,Phase 2,Not Applicable
49 Vitamins Phase 3,Phase 2,Not Applicable
50 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 201)
# 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 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Unknown status NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
6 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3 folinic acid
7 Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children Completed NCT01576705 Phase 3 thyroid hormone and folinic acid
8 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Active, not recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;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 6 To 10 Terminated NCT00754013 Phase 3 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 11 To 17 Terminated NCT00754052 Phase 3 Aricept (donepezil hydrochloride);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 Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
22 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
23 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
24 Rivastigmine Study in Adolescents With Down Syndrome Completed NCT01084135 Phase 1, Phase 2 Rivastigmine
25 A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS) Completed NCT02024789 Phase 2 Placebo;RG1662;RG1662
26 Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid. Completed NCT00928304 Phase 2 Florbetaben (BAY94-9172)
27 A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia Completed NCT01791725 Phase 2 ELND005;Placebo
28 Egcg, a dyrk1a Inhibitor as Therapeutic Tool for Reversing Cognitive Deficits in Down Syndrome Individuals. Completed NCT01394796 Phase 2 Placebo
29 Liq-NOL Efficacy in Pediatric Patients With Down Syndrome Completed NCT00891917 Phase 2 Ubiquinol-10 Syrup
30 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
31 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
32 TDF and LdT in Patients With HBV Infection Awaiting Assisted Reproduction Completed NCT02338674 Phase 1, Phase 2 Telbivudine and Tenofovir
33 Down Syndrome Memantine Follow-up Study Recruiting NCT02304302 Phase 2 Memantine;Placebo
34 The Effects of Inhalational Anaesthetics in Cognitive Functions in Down Syndrome Patients Recruiting NCT02971254 Phase 2 Sevoflurane;Desflurane
35 Nicotine Treatment of Cognitive Decline in Down Syndrome Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
36 Building Sentences With Preschoolers Who Use AAC Recruiting NCT03538925 Phase 2
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 Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Adults With Down Syndrome Unknown status NCT02481765 Phase 1
41 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
42 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
43 A Study of RG1662 in Individuals With Down Syndrome Completed NCT01436955 Phase 1 Placebo;RG1662
44 An Interactive Informed Consent and Education Program for Pregnant Women Completed NCT01176019 Phase 1
45 Rehabilitation of Children With Multiple Disabilities Completed NCT01379443 Phase 1
46 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
47 Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome Recruiting NCT02738450 Phase 1
48 Investigation of the Safety of Intranasal Glulisine in Down Syndrome Recruiting NCT02432716 Phase 1 Insulin glulisine;Saline
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

Sources

Genetic Tests for Down Syndrome

About this section

Genetic tests related to Down Syndrome:

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

Anatomical Context for Down Syndrome

About this section

MalaCards organs/tissues related to Down Syndrome:

41
Brain, Testes, Heart, Myeloid, Thyroid, Eye, Bone
Sources

Publications for Down Syndrome

About this section

Articles related to Down Syndrome:

(show top 50) (show all 2406)
# Title Authors Year
1
Is it time to move towards non-invasive prenatal screening for Down syndrome and screening for pre-eclampsia? ( 29446241 )
2018
2
Topography and Tomography Findings in Patients With Down Syndrome. ( 29931036 )
2018
3
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis. ( 29449075 )
2018
4
The evaluation and management of respiratory disease in children with Down syndrome (DS). ( 29033214 )
2018
5
Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report. ( 29105081 )
2018
6
Effects of whole-body vibration on muscle strength, bone mineral content and density, and balance and body composition of children and adolescents with Down syndrome: a systematic review. ( 29330572 )
2018
7
Early and Selective Activation and Subsequent Alterations to the Unfolded Protein Response in Down Syndrome Mouse Models. ( 29439332 )
2018
8
Prevalence of celiac disease in patients with Down syndrome: a meta-analysis. ( 29435186 )
2018
9
Quality of life in Down syndrome: a matter of perspective. ( 29443380 )
2018
10
Corneal Morphologic Characteristics in Patients With Down Syndrome. ( 29931124 )
2018
11
The Outcomes of Posterior Arthrodesis for Atlantoaxial Subluxation in Down Syndrome Patients: A Meta-Analysis. ( 29847415 )
2018
12
Research matters: How a brother with Down syndrome inspired a PhD in tuberculosis and an ardor for science communication. ( 29420663 )
2018
13
Megakaryoblasts in a newborn with Down syndrome. ( 29963512 )
2018
14
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies. ( 29887288 )
2018
15
Foot and ankle deformities in children with Down syndrome. ( 29951120 )
2018
16
Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome. ( 29413426 )
2018
17
Effects of Activation of Preferred Stimulus on Tummy Time Behavior of an Infant with Down Syndrome and Associated Hypotonia. ( 29868339 )
2018
18
Cerebral vasoreactivity and intima-media thickness in Down syndrome: A case-control study. ( 29406914 )
2018
19
External Auditory Canal Dimensions, Age, and Cerumen Retention or Impaction in Persons With Down Syndrome. ( 29426243 )
2018
20
Femoral and Dega osteotomies in the treatment of habitual hip dislocation in Down syndrome patients - is it efficient or not? ( 29951121 )
2018
21
The age of onset and evolution of Braak tangle stage and Thal amyloid pathology of Alzheimer's disease in individuals with Down syndrome. ( 29973279 )
2018
22
Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network. ( 29351810 )
2018
23
Self-perceptions from people with Down syndrome in Japan. ( 29449634 )
2018
24
Lingual tonsillectomy in children with Down syndrome: Is it safe? ( 29447819 )
2018
25
Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism. ( 29445163 )
2018
26
Children and young people with Down syndrome: Their awareness of Down syndrome and developing self-perceptions. ( 29963734 )
2018
27
Challenges and outcomes of cholesteatoma management in children with Down syndrome. ( 29447898 )
2018
28
Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome. ( 29399949 )
2018
29
Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection. ( 29649131 )
2018
30
Morphological alterations in the hippocampus of the Ts65Dn mouse model for Down Syndrome correlate with structural plasticity markers. ( 28374408 )
2018
31
Low-dose cytarabine to prevent myeloid leukemia in children with Down syndrome: TMD Prevention 2007 study. ( 29959152 )
2018
32
The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations. ( 29341296 )
2018
33
Clinical, echocardiographic and analytical parameters in patients with atrioventricular septal defect with and without Down syndrome. ( 29503025 )
2018
34
Personalized reading intervention for children with Down syndrome. ( 29429497 )
2018
35
The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy. ( 29750627 )
2018
36
Inference From Facial Expressions Among Adolescents and Young Adults With Down Syndrome. ( 29949422 )
2018
37
Kcnj6(GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome. ( 29929098 )
2018
38
Down syndrome with posterior cortical atrophy. ( 29437810 )
2018
39
Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study. ( 29431619 )
2018
40
Quantifier comprehension is linked to linguistic rather than to numerical skills. Evidence from children with Down syndrome and Williams syndrome. ( 29949641 )
2018
41
Aging related cognitive changes associated with Alzheimer's disease in Down syndrome. ( 29928657 )
2018
42
Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center. ( 29953411 )
2018
43
Patterns of Dietary Supplement Use in Children with Down Syndrome. ( 29961644 )
2018
44
Metabolic and Vascular Imaging Biomarkers in Down Syndrome Provide Unique Insights Into Brain Aging and Alzheimer Disease Pathogenesis. ( 29977201 )
2018
45
GABA<sub>A</sub>receptor subunit deregulation in the hippocampus of human foetuses with Down syndrome. ( 29168008 )
2018
46
DYRK1A inhibition and cognitive rescue in a Down syndrome mouse model are induced by new fluoro-DANDY derivatives. ( 29434250 )
2018
47
Remote Exercise for Adults with Down Syndrome. ( 29930988 )
2018
48
Pulmonary hemosiderosis in children with Down syndrome: a national experience. ( 29678139 )
2018
49
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. ( 29054759 )
2018
50
Down syndrome and microRNAs. ( 29403643 )
2018
Sources

Variations for Down Syndrome

About this section

ClinVar genetic disease variations for Down Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
2 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh38 Chromosome 5, 7870860: 7870860

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
Sources

Expression for Down Syndrome

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Search GEO for disease gene expression data for Down Syndrome.
Sources

Pathways for Down Syndrome

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

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 37
11.4 MIR125B2 MIR155 MIR99A MIRLET7C
Sources

GO Terms for Down Syndrome

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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 8.8 DSCAML1 RCAN1 S100B

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 8.62 DYRK1A S100B
Sources

Sources for Down Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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