MCID: DWN001
MIFTS: 69

Down Syndrome

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

Aliases & Classifications for Down Syndrome

MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 54 12 72 50 25 56 52 41 3 42 14 38 69
Trisomy 21 72 50 25 56 3 69
Down's Syndrome 12 50 25
Complete Trisomy 21 Syndrome 12 29
Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 54
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:

54
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:



Summaries for Down Syndrome

MedlinePlus : 41 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

MalaCards based summary : Down Syndrome, also known as trisomy 21, is related to acute megakaryoblastic leukemia in down syndrome and acute megakaryoblastic leukemia without down syndrome, and has symptoms including macroglossia, strabismus and umbilical hernia. An important gene associated with Down Syndrome is DCR (Down Syndrome Chromosome Region). The drugs Metformin and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart.

NIH Rare Diseases : 50 down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, 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. 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. last updated: 4/15/2015

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 : 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.

OMIM : 54
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)

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 300)
id Related Disease Score Top Affiliating Genes
1 acute megakaryoblastic leukemia in down syndrome 11.9
2 acute megakaryoblastic leukemia without down syndrome 11.8
3 myeloid proliferations related to down syndrome 11.8
4 down syndrome-related congenital heart disease 11.8
5 myeloproliferative syndrome, transient 11.3
6 ayme-gripp syndrome 10.9
7 intellectual disability 10.9
8 megakaryocytic leukemia 10.9
9 coloboma 10.9
10 syringoma 10.8
11 macroglossia 10.8
12 hypotonia 10.8
13 mohr syndrome 10.6 AFP PAPPA
14 trisomy 2 mosaicism 10.5 AFP PAPPA
15 floppy infant syndrome 10.5
16 infantile hypotonia 10.5
17 atrioventricular septal defect 4 10.5
18 atrioventricular septal defect 5 10.5
19 cystic lymphangioma 10.5
20 leukemia 10.3
21 dysbaric osteonecrosis 10.1 AFP DSCAM DYRK1A GATA1 PAPPA RCAN1
22 dementia 10.0
23 myeloid leukemia 10.0
24 neuronitis 10.0
25 thyroiditis 9.9
26 atrioventricular septal defect 9.9
27 alzheimer disease 9.9
28 fragile x syndrome 9.9
29 cerebritis 9.9
30 hypothyroidism 9.9
31 hypersensitivity syndrome, carbamazepine-induced 9.9 BACE2 DYRK1A RCAN1 S100B UBB
32 lymphoblastic leukemia 9.9
33 duodenitis 9.8
34 obesity 9.8
35 sleep apnea 9.8
36 obstructive sleep apnea 9.8
37 endotheliitis 9.7
38 autism spectrum disorder 9.7
39 neural tube defects 9.7
40 heart disease 9.7
41 periodontitis 9.7
42 nephrocalcinosis 9.7
43 calcinosis 9.7
44 epilepsy 9.7
45 atlantoaxial subluxation 9.7
46 urethritis 9.7
47 hepatitis 9.7
48 pericardial effusion 9.7
49 posterior urethral valves 9.7
50 achondroplasia 9.7

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:

54

Growth- Height:
short stature

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

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

Head And Neck- Head:
brachycephaly

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

Endocrine Features:
hypothyroidism

Head And Neck- Face:
flat facial profile

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

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

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

Skeletal- Limbs:
joint laxity

Skeletal- Pelvis:
hypoplastic iliac wings
shallow acetabulum

Skeletal- Spine:
atlantoaxial instability

Cardiovascular- Heart:
congenital heart defect
atrioventricular canal

Head And Neck- Mouth:
protruding tongue

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

Hematology:
leukemoid reactions


Clinical features from OMIM:

190685

Human phenotypes related to Down Syndrome:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
5 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 joint laxity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001388
7 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
8 narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0000189
9 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
10 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
12 open mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000194
13 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
14 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
15 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
16 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
17 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 sandal gap 56 32 frequent (33%) Frequent (79-30%) HP:0001852
19 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
20 protruding tongue 56 32 frequent (33%) Frequent (79-30%) HP:0010808
21 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
22 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
23 hypotrichosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001006
24 downturned corners of mouth 56 32 frequent (33%) Frequent (79-30%) HP:0002714
25 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
26 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
27 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
28 decreased fertility 56 32 frequent (33%) Frequent (79-30%) HP:0000144
29 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
30 depressed nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000457
31 type ii diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0005978
32 narrow mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000160
33 acute megakaryocytic leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0006733
34 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
35 bilateral single transverse palmar creases 56 32 frequent (33%) Frequent (79-30%) HP:0007598
36 thickened nuchal skin fold 56 32 hallmark (90%) Very frequent (99-80%) HP:0000474
37 abnormality of immune system physiology 56 32 frequent (33%) Frequent (79-30%) HP:0010978
38 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
39 abnormality of the lymphatic system 56 32 frequent (33%) Frequent (79-30%) HP:0100763
40 prematurely aged appearance 56 32 frequent (33%) Frequent (79-30%) HP:0007495
41 abnormality of the fontanelles or cranial sutures 56 32 frequent (33%) Frequent (79-30%) HP:0000235
42 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
43 upslanted palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0000582
44 impaired pain sensation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007328
45 round ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0100830
46 short stature 32 HP:0004322
47 brachydactyly 32 hallmark (90%) HP:0001156
48 atlantoaxial instability 32 HP:0003467
49 microtia 32 HP:0008551
50 malar flattening 32 HP:0000272

UMLS symptoms related to Down Syndrome:


joint laxity

Drugs & Therapeutics for Down Syndrome

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

(show top 50) (show all 262)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
3
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
4
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
6
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
7
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
8
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
9
Ondansetron Approved Phase 4 99614-02-5 4595
10
Montelukast Approved Phase 4 158966-92-8 5281040
11
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
12
Trandolapril Approved Phase 4 87679-37-6 5484727
13
Allopurinol Approved Phase 4 315-30-0 2094
14
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
15
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
16
gamma-Aminobutyric acid Investigational Phase 4 56-12-2 119
17 Hypoglycemic Agents Phase 4,Phase 1
18 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
19 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
20 glucocorticoids Phase 4,Phase 3,Phase 2
21 Hormone Antagonists Phase 4,Phase 3,Phase 2
22 Hormones Phase 4,Phase 3,Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
24 Diuretics, Potassium Sparing Phase 4
25 Sodium Channel Blockers Phase 4
26 Antiparkinson Agents Phase 4,Phase 2
27 Dopamine Agents Phase 4,Phase 2
28 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
29 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Chorionic Gonadotropin Phase 4
32 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
33 Antioxidants Phase 4,Phase 3,Phase 2
34 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Fertility Agents Phase 4
36 Follicle Stimulating Hormone Phase 4
37 Progestins Phase 4
38 Anti-Anxiety Agents Phase 4
39 Antiemetics Phase 4,Phase 3,Phase 2
40 Antipruritics Phase 4
41 Antipsychotic Agents Phase 4
42 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Dermatologic Agents Phase 4,Phase 3,Phase 2
44 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Psychotropic Drugs Phase 4,Phase 2
47
Serotonin Phase 4 50-67-9 5202
48 Serotonin Agents Phase 4
49 Serotonin Antagonists Phase 4
50 Tranquilizing Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 247)

id Name Status NCT ID Phase Drugs
1 Metformin in Step-down Regimen Versus Conventional Low Dose Step-up Protocol in Patients With PCOS Undergoing IVF Unknown status NCT01438190 Phase 4 Metformin, gonadotropins in step-down regimen;Placebo, gonadotropins in step-up regimen
2 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
3 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
4 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
5 Menopur® Versus Follistim® in Polycystic Ovarian Syndrome (PCOS) Completed NCT00805935 Phase 4 Menotropin;Progesterone vaginal insert;Follitropin beta;Progesterone in oil;leuprolide acetate
6 Ondansetron for the Treatment of IBS With Diarrhoea (IBS-D) Completed NCT00745004 Phase 4 Ondansetron;Placebo
7 Tailored Antiplatelet Therapy Versus Recommended Dose of Prasugrel Completed NCT01538446 Phase 4 Modification of Prasugrel based on a biological assay;prasugrel / clopidogrel
8 Montelukast in Bronchiolitis Obliterans Syndrome Completed NCT01211509 Phase 4 Montelukast
9 Metabolic Effects of Antihypertensive Drugs on People With Metabolic Syndrome (The MEAD Study) Completed NCT00887510 Phase 4 Hydrochlorothiazide;Trandolapril
10 Allopurinol in Acute Coronary Syndrome Terminated NCT01457820 Phase 4 Allopurinol;Allopurinol;Placebo
11 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4 Gabapentin immediate release;Gabapentin enacarbil extended release
12 IVF Versus Gonadotropin Therapy in Women With CC Resistant PCOS Withdrawn NCT02458963 Phase 4 Gonadotropin
13 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
14 Epigallocatechin Gallate (EGCG) to Improve Cognitive Performance in Foetal Alcohol Syndrome (FAS) Children Unknown status NCT02558933 Phase 2, Phase 3
15 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
16 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3 folinic acid
17 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
18 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
19 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
20 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
21 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
22 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
23 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
24 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
25 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
26 Effects of Metyrapone in Patients With Endogenous Cushing's Syndrome Recruiting NCT02297945 Phase 3 metyrapone
27 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
28 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
29 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;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Thioguanine;Vincristine Sulfate
30 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
31 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
32 Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy Terminated NCT01332643 Phase 3
33 Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
34 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
35 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
36 Terlipressin + Albumin Versus Midodrine + Octreotide in the Treatment of Hepatorenal Syndrome Terminated NCT00742339 Phase 2, Phase 3 Terlipressin plus albumin;Midodrine plus octreotide plus human albumin
37 Low-Dose Cytarabine in Treating Infants With Down Syndrome and Transient Myeloproliferative Disorder Withdrawn NCT00411281 Phase 3 cytarabine
38 Oral Language in Children With Down Syndrome Unknown status NCT00952354 Phase 2
39 Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
40 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
41 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
42 Rivastigmine Study in Adolescents With Down Syndrome Completed NCT01084135 Phase 1, Phase 2 Rivastigmine
43 Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid. Completed NCT00928304 Phase 2 Florbetaben (BAY94-9172)
44 Egcg, a dyrk1a Inhibitor as Therapeutic Tool for Reversing Cognitive Deficits in Down Syndrome Individuals. Completed NCT01394796 Phase 2 Placebo
45 A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS) Completed NCT02024789 Phase 2 Placebo;RG1662;RG1662
46 A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia Completed NCT01791725 Phase 2 ELND005;Placebo
47 Liq-NOL Efficacy in Pediatric Patients With Down Syndrome Completed NCT00891917 Phase 2 Ubiquinol-10 Syrup
48 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
49 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
50 Intravenous Mepolizumab In Subjects With Hypereosinophilic Syndromes (HES) Completed NCT00086658 Phase 2 mepolizumab

Search NIH Clinical Center for Down Syndrome

Cochrane evidence based reviews: down syndrome

Genetic Tests for Down Syndrome

Genetic tests related to Down Syndrome:

id Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome 29

Anatomical Context for Down Syndrome

MalaCards organs/tissues related to Down Syndrome:

39
Brain, Testes, Heart, Myeloid, Thyroid, Bone, Eye

Publications for Down Syndrome

Articles related to Down Syndrome:

(show top 50) (show all 1769)
id Title Authors Year
1
Congenital duodenal and multiple jejunal atresia with malrotation in a patient with Down syndrome. ( 28677208 )
2017
2
Changes in objectively measured physical activity in adolescents with Down syndrome: the UP&DOWN longitudinal study. ( 28090738 )
2017
3
Hippocampal overexpression of Down syndrome cell adhesion molecule in amyloid precursor protein transgenic mice. ( 28513774 )
2017
4
Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature. ( 28903458 )
2017
5
Hidradenitis Suppurativa and Concomitant Down Syndrome: Literature Review of Other Associated Mucocutaneous Manifestations in Adults. ( 28859733 )
2017
6
Acoustic parameters of infant-directed singing in mothers of infants with down syndrome. ( 28934613 )
2017
7
A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease. ( 27667142 )
2017
8
Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. ( 28747993 )
2017
9
Blinatumomab activity in a patient with Down syndrome B-precursor acute lymphoblastic leukemia. ( 28921818 )
2017
10
Application of the amniotic fluid metabolome to the study of fetal malformations, using Down syndrome as a specific model. ( 28944830 )
2017
11
Craniospinal Germinomas in Patient with Down Syndrome Successfully Treated with Standard-Dose Chemotherapy and Craniospinal Irradiation: Case Report and Literature Review. ( 28919233 )
2017
12
Detection of a clone-specific GATA1 mutation to monitor treatment response and involvement of a monozygotic twin in myeloid leukemia of Down syndrome. ( 28074551 )
2017
13
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
14
A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome. ( 28912835 )
2017
15
Mutational spectrum of CENP-B box and I+-satellite DNA on chromosome 21 in Down syndrome children. ( 28259924 )
2017
16
Aiding risk information learning through simulated experience (ARISE): Using simulated outcomes to improve understanding of conditional probabilities in prenatal Down syndrome screening. ( 28526191 )
2017
17
Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline. ( 28482213 )
2017
18
Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome? ( 28774164 )
2017
19
Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual functioning. ( 28067728 )
2017
20
Targeting trisomic treatments: optimizing Dyrk1a inhibition to improve Down syndrome deficits. ( 28944229 )
2017
21
Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome. ( 28902628 )
2017
22
Analyses of Sustained Vowels in Down Syndrome (DS): A Case Study Using Spectrograms and Perturbation Data to Investigate Voice Quality in Four Adults With DS. ( 28943107 )
2017
23
The effectiveness of the computerized visual perceptual training program on individuals with Down syndrome: An fMRI study. ( 28535411 )
2017
24
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
25
Foot Structure in Boys with Down Syndrome. ( 28904967 )
2017
26
The physiological phosphorylation of tau is critically changed in fetal brains of individuals with Down syndrome. ( 28455903 )
2017
27
POSEIDON - Bringing Assistive Technology to People with Down Syndrome: Results of a Three Year European Project. ( 28508793 )
2017
28
Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first. ( 28453864 )
2017
29
Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee. ( 28220267 )
2017
30
Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer's Disease Type Pathology in vitro. ( 28059787 )
2017
31
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
32
Second-Trimester Ultrasound for Adjusting Patient's Risk for Down Syndrome. ( 28457116 )
2017
33
Down syndrome, beta-amyloid and neuroimaging. ( 28935420 )
2017
34
Vocalization patterns in young children with Down syndrome: Utilizing the language environment analysis (LENA) to inform behavioral phenotypes. ( 28485651 )
2017
35
Papular eruption in a woman with Down syndrome. ( 28917482 )
2017
36
Altered Peripheral Blood Myeloid Cell Subpopulations in Children With Down Syndrome and Pulmonary Hypertension. ( 28060127 )
2017
37
Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome. ( 28092296 )
2017
38
Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. ( 28461505 )
2017
39
Otolaryngologic management of Down syndrome patients: what is new? ( 28915135 )
2017
40
Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea. ( 28055122 )
2017
41
Determining the relative contribution of retinal disparity and blur cues to ocular accommodation in Down syndrome. ( 28071728 )
2017
42
Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. ( 28522103 )
2017
43
Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction. ( 28069794 )
2017
44
Dietary practices of children and adolescents with Down syndrome. ( 28078918 )
2017
45
Should a Down Syndrome Child With a Failing Heart Be Offered Heart Transplantation? ( 28935297 )
2017
46
Fetal pleural effusion and Down syndrome. ( 28944136 )
2017
47
Down syndrome critical region 1 positively correlates with angiogenesis in hypopharyngeal cancer. ( 27922696 )
2017
48
Epigallocatechin-3-gallate (EGCG) consumption in the Ts65Dn model of Down syndrome fails to improve behavioral deficits and is detrimental to skeletal phenotypes. ( 28478033 )
2017
49
Prenatal Phenotype of Down Syndrome Using Three-Dimensional Virtual Reality. ( 28483332 )
2017
50
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ( 28463681 )
2017

Variations for Down Syndrome

Copy number variations for Down Syndrome from CNVD:

7 (show all 17)
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 biological_process GO:0008150 9.72 DSCR10 DSCR3 DSCR4 DSCR8 DSCR9
2 central nervous system development GO:0007417 9.43 DSCAML1 RCAN1 S100B
3 regulation of catalytic activity GO:0050790 9.33 RCAN1 RCAN2 RCAN3
4 calcium-mediated signaling GO:0019722 9.13 RCAN1 RCAN2 RCAN3
5 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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