MCID: CHR233
MIFTS: 13

Chromosome 21q Deletion malady

Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Chromosome 21q Deletion

About this section


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

About this section
Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Chromosome 21q Deletion, Aliases & Descriptions:

Name: Chromosome 21q Deletion 41
Partial 21q Monosomy 41 47
21q- Syndrome 41 47
21q Deletion 41 47
Monosomy 21 41 47
 
Chromosome 21 Monosomy 60
Partial Monosomy 21q 41
21q Monosomy 41
Monosomy 21q 41
Deletion 21q 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
partial 21q monosomy:
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet47 574
ICD10 via Orphanet26 Q93.0
UMLS via Orphanet61 C0795875

Related Diseases for Chromosome 21q Deletion

About this section

Diseases related to Chromosome 21q Deletion via text searches within MalaCards or GeneCards Suite 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

About this section

Drugs & Therapeutics for Chromosome 21q Deletion

About this section

Drug clinical trials:

Search ClinicalTrials for Chromosome 21q Deletion

Search NIH Clinical Center for Chromosome 21q Deletion

Genetic Tests for Chromosome 21q Deletion

About this section

Anatomical Context for Chromosome 21q Deletion

About this section

MalaCards organs/tissues related to Chromosome 21q Deletion:

31
Eye

Animal Models for Chromosome 21q Deletion or affiliated genes

About this section

Publications for Chromosome 21q Deletion

About this section

Variations for Chromosome 21q Deletion

About this section

Expression for genes affiliated with Chromosome 21q Deletion

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

Pathways for genes affiliated with Chromosome 21q Deletion

About this section

Compounds for genes affiliated with Chromosome 21q Deletion

About this section

GO Terms for genes affiliated with Chromosome 21q Deletion

About this section

Products for genes affiliated with Chromosome 21q Deletion

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chromosome 21q Deletion

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet