MCID: DWN001
MIFTS: 71

Down Syndrome

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

Aliases & Classifications for Down Syndrome

MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 58 12 77 54 26 60 38 13 56 44 3 45 15 39 17 74
Trisomy 21 58 54 26 60 3 15 74
Complete Trisomy 21 Syndrome 12 30 6 41
Down's Syndrome 12 54 26
Down Syndrome, Susceptibility to 6
Down's Syndrome - Trisomy 21 12
Trisomy 21 Syndrome 12
Downs Syndrome 12
G Trisomy 12
47,xx,+21 26
47,xy,+21 26
Trisomy G 26

Characteristics:

OMIM:

58
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:

33
down syndrome:
Inheritance sporadic


Classifications:



Summaries for Down Syndrome

NIH Rare Diseases : 54 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 testes, brain and heart, and related phenotypes are short neck and intellectual disability

Disease Ontology : 12 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

Genetics Home Reference : 26 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.

OMIM : 58 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 : 44 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.

Wikipedia : 77 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 794)
# Related Disease Score Top Affiliating Genes
1 acute megakaryoblastic leukemia in down syndrome 12.2
2 myeloid proliferations related to down syndrome 12.1
3 acute megakaryoblastic leukemia without down syndrome 12.1
4 myeloproliferative syndrome, transient 12.0
5 ayme-gripp syndrome 11.6
6 nuchal bleb, familial 11.2
7 megakaryocytic leukemia 11.2
8 atrioventricular septal defect 11.2
9 syringoma 11.1
10 coloboma of macula 11.1
11 hypotonia 11.1
12 macroglossia 11.1
13 cystic lymphangioma 11.1
14 ring chromosome 21 11.1
15 atrioventricular septal defect 4 10.8
16 atrioventricular septal defect 5 10.8
17 congenital extrahepatic portosystemic shunt 10.8
18 infantile hypotonia 10.8
19 floppy infant syndrome 10.8
20 leukemia 10.6
21 alzheimer disease 10.6
22 chromosomal triplication 10.5
23 dementia 10.5
24 autism 10.4
25 bone marrow cancer 10.4
26 heart disease 10.4
27 myeloid leukemia 10.3
28 sleep apnea 10.3
29 lymphocytic leukemia 10.3
30 fragile x syndrome 10.3
31 aging 10.3
32 leukemia, acute lymphoblastic 10.3
33 australia antigen 10.3
34 williams-beuren syndrome 10.3
35 disorganization, mouse, homolog of 10.2
36 neural tube defects 10.2
37 hypothyroidism 10.2
38 neural tube defects, folate-sensitive 10.2
39 autism spectrum disorder 10.2
40 leukemia, acute myeloid 10.2
41 nondisjunction 10.2
42 alacrima, achalasia, and mental retardation syndrome 10.2
43 acute lymphocytic leukemia 10.2
44 acute leukemia 10.1
45 epilepsy 10.1
46 celiac disease 1 10.1
47 moyamoya disease 1 10.1
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
49 cerebral palsy 10.1
50 west syndrome 10.1

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:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
6 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
7 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
8 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
9 joint laxity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001388
10 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
12 round ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0100830
13 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
14 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
15 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
16 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
17 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
18 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
19 thick lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000179
20 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
21 abnormality of immune system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0010978
22 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
23 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
24 abnormality of the lymphatic system 60 33 frequent (33%) Frequent (79-30%) HP:0100763
25 prematurely aged appearance 60 33 frequent (33%) Frequent (79-30%) HP:0007495
26 decreased fertility 60 33 frequent (33%) Frequent (79-30%) HP:0000144
27 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
28 open mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000194
29 abnormality of the fontanelles or cranial sutures 60 33 frequent (33%) Frequent (79-30%) HP:0000235
30 sandal gap 60 33 frequent (33%) Frequent (79-30%) HP:0001852
31 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
32 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
33 protruding tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010808
34 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
35 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
36 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
37 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
38 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
39 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
40 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
41 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
42 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
43 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
44 hypotrichosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001006
45 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
46 acute megakaryocytic leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006733
47 impaired pain sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007328
48 malar flattening 33 HP:0000272
49 abnormality of the dentition 60 Frequent (79-30%)
50 microtia 33 HP:0008551

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Down Syndrome

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

(show top 50) (show all 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Not Applicable 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
3 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Not Applicable
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Dopamine Agents Phase 4,Phase 2,Not Applicable
6 Excitatory Amino Acids Phase 4,Phase 2,Not Applicable
7 Antiparkinson Agents Phase 4,Phase 2,Not Applicable
8
Tocopherol Approved, Investigational Phase 3,Phase 2 1406-66-2 14986
9
Ethanol Approved Phase 2, Phase 3 64-17-5 702
10
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
11
Levoleucovorin Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 68538-85-2
12
Etoposide Approved Phase 3 33419-42-0 36462
13
Cytarabine Approved, Experimental, Investigational Phase 3,Phase 2 147-94-4, 65-46-3 6253
14
Thioguanine Approved Phase 3 154-42-7 2723601
15
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
16
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
17
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
18
Hydrocortisone acetate Approved, Vet_approved Phase 3,Phase 2 50-03-3
19
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
20
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
21
Pegaspargase Approved, Investigational Phase 3 130167-69-0
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
23
Mercaptopurine Approved Phase 3,Phase 2 50-44-2 667490
24
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
25
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
26
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
27
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2,Early Phase 1 83-43-2 6741
28
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
29
Methylprednisolone hemisuccinate Approved Phase 3,Phase 2,Early Phase 1 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 2,Early Phase 1 302-25-0
31
Prednisolone Approved, Vet_approved Phase 3,Phase 2,Early Phase 1 50-24-8 5755
32
Fludarabine Approved Phase 3,Not Applicable 75607-67-9, 21679-14-1 30751
33
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643 439492
34
Vidarabine Approved, Investigational Phase 3,Not Applicable 24356-66-9 21704 32326
35
Miconazole Approved, Investigational, Vet_approved Phase 3,Not Applicable 22916-47-8 4189
36
Mycophenolic acid Approved Phase 3,Not Applicable 24280-93-1 446541
37
Busulfan Approved, Investigational Phase 3 55-98-1 2478
38
Donepezil Approved Phase 3,Phase 2 120014-06-4 3152
39
Ichthammol Approved Phase 3 8029-68-3
40
Blinatumomab Approved, Investigational Phase 3 853426-35-4
41
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
42
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
43
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
45
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
46
Tyrosine Approved, Investigational, Nutraceutical Phase 3,Not Applicable 60-18-4 6057
47 Tocotrienol Investigational Phase 3,Phase 2 6829-55-6
48
Epigallocatechin gallate Investigational Phase 2, Phase 3,Not Applicable 989-51-5 65064
49
Epigallocatechin Experimental, Investigational Phase 2, Phase 3,Not Applicable 970-74-1 72277
50
Doxil Approved June 1999 Phase 3 31703

Interventional clinical trials:

(show top 50) (show all 226)
# 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 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
7 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
8 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
9 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
10 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
11 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Completed NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
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 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
16 Blinatumomab in Combination With Chemotherapy in Treating Patients With or Without Down Syndrome and Newly Diagnosed, Standard Risk B-Lymphoblastic Leukemia or Localized B-Lymphoblastic Lymphoma Not yet recruiting NCT03914625 Phase 3 Asparaginase Erwinia chrysanthemi;Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin;Doxorubicin Hydrochloride;Leucovorin;Leucovorin Calcium;Mercaptopurine;Mercaptopurine Oral Suspension;Methotrexate;Prednisolone;Prednisone;Thioguanine;Vincristine;Vincristine Sulfate
17 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Suspended NCT02883049 Phase 3 Clofarabine;Cyclophosphamide;Cytarabine;Dasatinib;Daunorubicin Hydrochloride;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Thioguanine;Vincristine Sulfate
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 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
20 Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy Terminated NCT01332643 Phase 3
21 Low-Dose Cytarabine in Treating Infants With Down Syndrome and Transient Myeloproliferative Disorder Withdrawn NCT00411281 Phase 3 cytarabine
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 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 Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS) Completed NCT02024789 Phase 2 Placebo;RG1662;RG1662
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 "Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX) Completed NCT01855971 Phase 2
34 TDF and LdT in Immune-tolerant CHB Patients Awaiting Assisted Reproduction Completed NCT02338674 Phase 1, Phase 2 Tenofovir and telbivudine;Tenofovir
35 Down Syndrome Memantine Follow-up Study Recruiting NCT02304302 Phase 2 Memantine;Placebo
36 The Effects of Inhalational Anaesthetics in Cognitive Functions in Down Syndrome Patients Recruiting NCT02971254 Phase 2 Sevoflurane;Desflurane
37 Nicotine Treatment of Cognitive Decline in Down Syndrome Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
38 ASIA Down Syndrome Acute Lymphoblastic Leukemia 2016 Recruiting NCT03286634 Phase 2 Daunorubicin;Prednisolone;Vincristine;Epirubicin;E-coli L-asparaginase;6-Mercaptopurine;Methotrexate;Hydrocortisone;Cytarabine;Cyclophosphamide
39 Building Sentences With Preschoolers Who Use AAC Recruiting NCT03538925 Phase 2
40 A Trial of Metformin in Individuals With Fragile X Syndrome (Met) Not yet recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
41 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)
42 A Study of RO5186582 in Down Syndrome Among Children 6 to 11 Years of Age Terminated NCT02484703 Phase 2 Placebo;RO5186582
43 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
44 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Unknown status NCT02567357 Phase 1
45 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
46 A Study of RG1662 in Individuals With Down Syndrome Completed NCT01436955 Phase 1 Placebo;RG1662
47 An Interactive Informed Consent and Education Program for Pregnant Women Completed NCT01176019 Phase 1
48 Rehabilitation of Children With Multiple Disabilities Completed NCT01379443 Phase 1
49 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
50 Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Children With Down Syndrome Recruiting NCT02481765 Phase 1

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 30 GATA1

Anatomical Context for Down Syndrome

MalaCards organs/tissues related to Down Syndrome:

42
Testes, Brain, Heart, Bone, Myeloid, Thyroid, Eye

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 6115)
# Title Authors Year
1
Aging and Disabilities: How to Age Well With Down Syndrome and Leave No One Behind. ( 31026325 )
2019
2
Aging Individuals With Down Syndrome and Dementia as Teachers: Learnings from Staffin a Developmental Disability Program in Long-Term Care. ( 31026328 )
2019
3
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies. ( 30768754 )
2019
4
Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata. ( 31008170 )
2019
5
Dementia in Down syndrome: unique insights for Alzheimer disease research. ( 30733618 )
2019
6
Case 2 / 2019 - Complete Atrioventricular Septal Defect, with Down Syndrome, without Pulmonary Hypertension and Natural History at 33 Years of Age. ( 30916196 )
2019
7
Successful Treatment With ATRA and Arsenic Trioxide for a Child With Down Syndrome and Acute Promyelocytic Leukemia. ( 30807394 )
2019
8
Autism needs to be considered in children with Down syndrome. ( 31090964 )
2019
9
Social support and post-crisis growth among mothers of children with autism spectrum disorder and mothers of children with down syndrome. ( 31030056 )
2019
10
Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders. ( 30950174 )
2019
11
Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only. ( 30959431 )
2019
12
Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy. ( 30101573 )
2019
13
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. ( 30822236 )
2019
14
Brain stem infarction in a 6-year-old boy with Down syndrome. ( 30857880 )
2019
15
Milia-like idiopathic calcinosis cutis and plaque-type syringoma in a girl with Down syndrome. ( 30194873 )
2019
16
Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients. ( 30951523 )
2019
17
Choroid Plexus Acts as Gatekeeper for TREM2, Abnormal Accumulation of ApoE, and Fibrillary Tau in Alzheimer's Disease and in Down Syndrome Dementia. ( 30909239 )
2019
18
Frontal cortex and striatal cellular and molecular pathobiology in individuals with Down syndrome with and without dementia. ( 30734106 )
2019
19
Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome. ( 30086988 )
2019
20
Successful Treatment of an EBV-positive Diffuse Large B-Cell Lymphoma in a Patient With Trisomy 21. ( 31045623 )
2019
21
Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia. ( 31011264 )
2019
22
Disentangling the roles of maternal and paternal age on birth prevalence of down syndrome and other chromosomal disorders using a Bayesian modeling approach. ( 31014243 )
2019
23
Analysis of a nanoparticle‑enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis. ( 31017260 )
2019
24
Behaviour changes in an adult with Down syndrome. ( 31023775 )
2019
25
Associations between electroencephalography power and Alzheimer's disease in persons with Down syndrome. ( 31025465 )
2019
26
Reliability of Informant-Report Measures of Executive Functioning in Children With Down Syndrome. ( 31026204 )
2019
27
Obstructive Sleep Apnea in Children With Down Syndrome: Screening and Effect of Guidelines. ( 31030547 )
2019
28
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome. ( 31032231 )
2019
29
Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities. ( 31036426 )
2019
30
Friendships and patterns of social leisure participation among Norwegian adolescents with Down syndrome. ( 31038247 )
2019
31
Glucagon-like peptide-1 cleavage product improves cognitive function in a mouse model of Down syndrome. ( 31040160 )
2019
32
Knowledge of Prenatal Screening, Down Syndrome, Amniocentesis, and Related Factors among Iranian Pregnant Women: A Cross-Sectional Study. ( 31041325 )
2019
33
Transient leukemia of Down Syndrome. ( 31043105 )
2019
34
Lysosomal dysfunction in Down syndrome is APP-dependent and mediated by APP-βCTF (C99). ( 31043483 )
2019
35
Trends in Obesity and Overweight in Oregon Children With Down Syndrome. ( 31044152 )
2019
36
Pediatric-onset annular pustular psoriasis in a patient with Down syndrome. ( 31050001 )
2019
37
Psychoprophylaxis for oral conscious sedation for dental care in Down syndrome adults with behavioral disorder. ( 31050376 )
2019
38
Outcomes following physical therapy incorporating hippotherapy on neuromotor function and bladder control in children with Down syndrome: A case series. ( 31106675 )
2019
39
Neuroimaging assessment in Down syndrome: a pictorial review. ( 31111268 )
2019
40
Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center. ( 30634988 )
2019
41
Relation between processing facial identity and emotional expression in typically developing school-age children and those with Down syndrome. ( 30646753 )
2019
42
Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a. ( 30649339 )
2019
43
Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome. ( 30660502 )
2019
44
Dasatinib and low-intensity chemotherapy for Philadelphia chromosome-positive acute lymphoblastic leukemia in a child with Down syndrome. ( 30663211 )
2019
45
Prevalence and risk factors for Down syndrome: A hospital-based single-center study in Western Mexico. ( 30666778 )
2019
46
Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response. ( 30671494 )
2019
47
Building and Connecting: Family Strategies for Developing Social Support Networks for Adults With Down Syndrome. ( 30675807 )
2019
48
Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients. ( 30677764 )
2019
49
Cannabinoid type-1 receptor blockade restores neurological phenotypes in two models for Down syndrome. ( 30685352 )
2019
50
Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje Down syndrome mouse model. ( 30775947 )
2019

Variations for Down Syndrome

ClinVar genetic disease variations for Down Syndrome:

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

Copy number variations for Down Syndrome from CNVD:

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

Expression for Down Syndrome

Search GEO for disease gene expression data for Down Syndrome.

Pathways for Down Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.4 MIR125B2 MIR155 MIR99A MIRLET7C

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 micro-ribonucleoprotein complex GO:0035068 9.02 MIR125B2 MIR155 MIR802 MIR99A MIRLET7C

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

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

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

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

Sources for Down Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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