MCID: CHR233
MIFTS: 15

Chromosome 21q Deletion malady

Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Chromosome 21q Deletion

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MalaCards based summary: Chromosome 21q Deletion, also known as partial 21q monosomy, is related to ring chromosome 21 and fragile x syndrome. Affiliated tissues include eye.

Aliases & Classifications for Chromosome 21q Deletion

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Sources:
43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chromosome 21q Deletion, Aliases & Descriptions:

Name: Chromosome 21q Deletion 43
Partial 21q Monosomy 43 49
21q- Syndrome 43 49
21q Deletion 43 49
Monosomy 21 43 49
 
Gene Deletion Abnormality 62
Partial Monosomy 21q 43
Monosomy 21q 43
21q Monosomy 43
Deletion 21q 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
partial 21q monosomy:
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet49 574
ICD10 via Orphanet28 Q93.0
UMLS via Orphanet63 C0795875

Related Diseases for Chromosome 21q Deletion

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

idRelated DiseaseScoreTop Affiliating Genes
1ring chromosome 2110.2
2fragile x syndrome10.1
3leukemia10.1
4thrombocytopenia10.1
5neuronitis10.1
6sclerocornea10.1
7azoospermia10.1
8eec syndrome10.1
9mental retardation10.1
10neuronal migration disorders10.1

Graphical network of diseases related to Chromosome 21q Deletion:



Diseases related to chromosome 21q deletion

Symptoms for Chromosome 21q Deletion

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Drugs & Therapeutics for Chromosome 21q Deletion

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Drug clinical trials:

Search ClinicalTrials for Chromosome 21q Deletion

Search NIH Clinical Center for Chromosome 21q Deletion

Genetic Tests for Chromosome 21q Deletion

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Anatomical Context for Chromosome 21q Deletion

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MalaCards organs/tissues related to Chromosome 21q Deletion:

33
Eye

Animal Models for Chromosome 21q Deletion or affiliated genes

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Publications for Chromosome 21q Deletion

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Variations for Chromosome 21q Deletion

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Expression for genes affiliated with Chromosome 21q Deletion

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Search GEO for disease gene expression data for Chromosome 21q Deletion.

Pathways for genes affiliated with Chromosome 21q Deletion

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Compounds for genes affiliated with Chromosome 21q Deletion

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GO Terms for genes affiliated with Chromosome 21q Deletion

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Products for genes affiliated with Chromosome 21q Deletion

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chromosome 21q Deletion

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet