MCID: MNS008
MIFTS: 22

Monosomy 21 malady

Eye diseases, Fetal diseases categories

Summaries for Monosomy 21

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32MalaCards
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MalaCards: Monosomy 21, also known as gene deletion abnormality, is related to chromosome 21q deletion and 21q22.11q22.12 microdeletion syndrome. An important gene associated with Monosomy 21 is GRIK1 (glutamate receptor, ionotropic, kainate 1), and among its related pathways are Class A/1 (Rhodopsin-like receptors) and Circadian entrainment. The compounds nmda and dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye.

Aliases & Classifications for Monosomy 21

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Sources:
48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
partial 21q monosomy:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

monosomy 21 48
gene deletion abnormality 60
chromosome 21 monosomy 60
partial 21q monosomy 48
21q- syndrome 48
21q deletion 48


External Ids:

ICD10 via Orphanet26 Q93.0

Related Diseases for Monosomy 21

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Monosomy 18p family:

monosomy 21 Monosomy Xp21
Monosomy 9q22.3 Monosomy 22

Diseases related to Monosomy 21 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 21q deletion10.3
221q22.11q22.12 microdeletion syndrome10.1
321q22.13q22.2 microdeletion syndrome10.1
4neuronitis10.0
5fragile x syndrome10.0
6acute leukemia10.0
7epithelioid sarcoma10.0
8leukemia10.0
9sarcoma10.0
10thrombocytopenia10.0
11dementia10.0APP
12williams-beuren syndrome10.0
13trichorhinophalangeal syndrome type ii10.0
14cri-du-chat syndrome10.0
151p36 deletion syndrome10.0
16smith magenis syndrome10.0
171q21.1 microdeletion10.0
189q22.3 microdeletion10.0
1915q24 microdeletion syndrome10.0
20kleefstra syndrome10.0
21mitochondrial dna deletion syndromes10.0
22phelan-mcdermid syndrome10.0
23y chromosome infertility10.0
24chromosome 10p deletion10.0
25chromosome 11p deletion10.0
26chromosome 11q deletion10.0
27jacobsen syndrome10.0
28chromosome 12p deletion10.0
29chromosome 12q deletion10.0
30chromosome 13q deletion10.0
31chromosome 14q deletion10.0
32chromosome 15q deletion10.0
33chromosome 15q25.2 deletion10.0
34chromosome 16p deletion10.0
3516p11.2 deletion syndrome10.0
36chromosome 16p13.3 deletion syndrome10.0
37chromosome 16q deletion10.0
38chromosome 17p deletion10.0
39chromosome 17p13.1 deletion syndrome10.0
40chromosome 17q deletion10.0
41chromosome 19p deletion10.0
42chromosome 19q deletion10.0
43chromosome 1p deletion10.0
44chromosome 1q deletion10.0
45chromosome 1q41-q42 deletion syndrome10.0
46chromosome 20p deletion10.0
47chromosome 20q deletion10.0
48chromosome 22q deletion10.0
49chromosome 2p deletion10.0
50chromosome 2q deletion10.0

Graphical network of the top 20 diseases related to Monosomy 21:



Diseases related to monosomy 21

Clinical Features for Monosomy 21

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Drugs & Therapeutics for Monosomy 21

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Monosomy 21

Drug clinical trials:

Search ClinicalTrials for Monosomy 21

Search NIH Clinical Center for Monosomy 21

Search CenterWatch for Monosomy 21

Genetic Tests for Monosomy 21

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Anatomical Context for Monosomy 21

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32MalaCards
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MalaCards organs/tissues related to Monosomy 21:

32
Eye

Animal Models for Monosomy 21 or affiliated genes

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Publications for Monosomy 21

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Genetic Variations for Monosomy 21

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Expression for genes affiliated with Monosomy 21

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Monosomy 21

Search GEO for disease gene expression data for Monosomy 21.

Pathways for genes affiliated with Monosomy 21

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Sources:
53Reactome, 29KEGG
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Pathways related to Monosomy 21 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0GRIK1, APP
2
Hide members
9.0GRIK1, APP

Compounds for genes affiliated with Monosomy 21

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Monosomy 21 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nmda44 2810.4APP
2dopamine44 28 11 2412.0GRIK1, APP
3gaba448.9GRIK1, APP

GO Terms for genes affiliated with Monosomy 21

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Products for genes affiliated with Monosomy 21

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monosomy 21

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet