Down Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DWN001 MIFTS: 71	Down Syndrome Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Gastrointestinal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Down syndrome

Down syndrome, unspecified

Trisomy 21, meiotic nondisjunction

Trisomy 21, mosaicism (mitotic nondisjunction)

Trisomy 21, translocation

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:14250

OMIM ⁵⁸ 190685

KEGG ³⁸ H01552

ICD9CM ³⁶ 758.0

MeSH ⁴⁵ D004314

NCIt ⁵¹ C2993

SNOMED-CT ⁶⁹ 41040004

ICD10 ³⁴ Q90 Q90.9

MESH via Orphanet ⁴⁶ D004314

ICD10 via Orphanet ³⁵ Q90.0 Q90.1 Q90.2 more

UMLS via Orphanet ⁷⁵ C0013080

Orphanet ⁶⁰ ORPHA870

MedGen ⁴³ C0013080

SNOMED-CT via HPO ⁷⁰ 111590001 128306009 128602000 more

EFO ¹⁷ EFO_0001064

UMLS ⁷⁴ C0013080 C3537167

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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...

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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
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:

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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

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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

Dopamine

Approved